UniProtKB - Q7Z4N2 (TRPM1_HUMAN)
(max 400 entries)x
Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>
Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)
- BLAST>sp|Q7Z4N2|TRPM1_HUMAN Transient receptor potential cation channel subfamily M member 1 OS=Homo sapiens OX=9606 GN=TRPM1 PE=1 SV=2 MKDSNRCCCGQFTNQHIPPLPSATPSKNEEESKQVETQPEKWSVAKHTQSYPTDSYGVLE FQGGGYSNKAMYIRVSYDTKPDSLLHLMVKDWQLELPKLLISVHGGLQNFEMQPKLKQVF GKGLIKAAMTTGAWIFTGGVSTGVISHVGDALKDHSSKSRGRVCAIGIAPWGIVENKEDL VGKDVTRVYQTMSNPLSKLSVLNNSHTHFILADNGTLGKYGAEVKLRRLLEKHISLQKIN TRLGQGVPLVGLVVEGGPNVVSIVLEYLQEEPPIPVVICDGSGRASDILSFAHKYCEEGG IINESLREQLLVTIQKTFNYNKAQSHQLFAIIMECMKKKELVTVFRMGSEGQQDIEMAIL TALLKGTNVSAPDQLSLALAWNRVDIARSQIFVFGPHWPPLGSLAPPTDSKATEKEKKPP MATTKGGRGKGKGKKKGKVKEEVEEETDPRKIELLNWVNALEQAMLDALVLDRVDFVKLL IENGVNMQHFLTIPRLEELYNTRLGPPNTLHLLVRDVKKSNLPPDYHISLIDIGLVLEYL MGGAYRCNYTRKNFRTLYNNLFGPKRPKALKLLGMEDDEPPAKGKKKKKKKKEEEIDIDV DDPAVSRFQYPFHELMVWAVLMKRQKMAVFLWQRGEESMAKALVACKLYKAMAHESSESD LVDDISQDLDNNSKDFGQLALELLDQSYKHDEQIAMKLLTYELKNWSNSTCLKLAVAAKH RDFIAHTCSQMLLTDMWMGRLRMRKNPGLKVIMGILLPPTILFLEFRTYDDFSYQTSKEN EDGKEKEEENTDANADAGSRKGDEENEHKKQRSIPIGTKICEFYNAPIVKFWFYTISYLG YLLLFNYVILVRMDGWPSLQEWIVISYIVSLALEKIREILMSEPGKLSQKIKVWLQEYWN ITDLVAISTFMIGAILRLQNQPYMGYGRVIYCVDIIFWYIRVLDIFGVNKYLGPYVMMIG KMMIDMLYFVVIMLVVLMSFGVARQAILHPEEKPSWKLARNIFYMPYWMIYGEVFADQID LYAMEINPPCGENLYDEEGKRLPPCIPGAWLTPALMACYLLVANILLVNLLIAVFNNTFF EVKSISNQVWKFQRYQLIMTFHDRPVLPPPMIILSHIYIIIMRLSGRCRKKREGDQEERD RGLKLFLSDEELKRLHEFEEQCVQEHFREKEDEQQSSSDERIRVTSERVENMSMRLEEIN ERETFMKTSLQTVDLRLAQLEELSNRMVNALENLAGIDRSDLIQARSRASSECEATYLLR QSSINSADGYSLYRYHFNGEELLFEDTSLSTSPGTGVRKKTCSFRIKEEKDVKTHLVPEC QNSLHLSLGTSTSATPDGSHLAVDDLKNAEESKLGPDIGISKEDDERQTDSKKEETISPS LNKTDVIHGQDKSDVQNTQLTVETTNIEGTISYPLEETKITRYFPDETINACKTMKSRSF VYSRGRKLVGGVNQDVEYSSITDQQLTTEWQCQVQKITRSHSTDIPYIVSEAAVQAEHKE QFADMQDEHHVAEAIPRIPRLSLTITDRNGMENLLSVKPDQTLGFPSLRSKSLHGHPRNV KSIQGKLDRSGHASSVSSLVIVSGMTAEEKKVKKEKASTETEC
- Align
Protein
Transient receptor potential cation channel subfamily M member 1
Gene
TRPM1
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel.By similarity3 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.9"Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform."
Xu X.-Z.S., Moebius F., Gill D.L., Montell C.
Proc. Natl. Acad. Sci. U.S.A. 98:10692-10697(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION. - Ref.10"Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans."
Li Z., Sergouniotis P.I., Michaelides M., Mackay D.S., Wright G.A., Devery S., Moore A.T., Holder G.E., Robson A.G., Webster A.R.
Am. J. Hum. Genet. 85:711-719(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, VARIANTS CSNB1C CYS-56; CYS-74; GLN-721; GLY-883 AND PHE-1002, VARIANTS TRP-6; ASN-32; MET-605; THR-962; ILE-1395 AND GLY-1438. - Ref.11"Mutations in TRPM1 are a common cause of complete congenital stationary night blindness."
van Genderen M.M., Bijveld M.M., Claassen Y.B., Florijn R.J., Pearring J.N., Meire F.M., McCall M.A., Riemslag F.C., Gregg R.G., Bergen A.A., Kamermans M.
Am. J. Hum. Genet. 85:730-736(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS CSNB1C CYS-74; PRO-99; ARG-364; ARG-534 AND HIS-611.
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- calcium channel activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- calcium ion transmembrane transport Source: Reactome
- calcium ion transport into cytosol Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- cellular response to light stimulus Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- G-protein coupled glutamate receptor signaling pathway Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- protein tetramerization Source: InterPro
- retinal rod cell development Source: Ensembl
- visual perception Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Ion channel, Ligand-gated ion channel, Receptor |
| Biological process | Ion transport, Sensory transduction, Transport, Vision |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-3295583 TRP channels |
SIGNOR Signaling Network Open Resource More...SIGNORi | Q7Z4N2 |
Protein family/group databases
Transport Classification Database More...TCDBi | 1.A.4.5.2 the transient receptor potential ca(2+) channel (trp-cc) family |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Transient receptor potential cation channel subfamily M member 1Alternative name(s): Long transient receptor potential channel 1 Short name: LTrpC1 Melastatin-1 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:TRPM1Imported <p>Manually validated information which has been imported from another database.</p> <p><a href="/manual/evidences#ECO:0000312">More...</a></p> Manual assertion inferred from database entriesi Synonyms:LTRPC1, MLSN1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
<p>Manually validated information which has been imported from another database.</p> <p><a href="/manual/evidences#ECO:0000312">More...</a></p> Manual assertion inferred from database entriesi |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000134160.13 |
Human Gene Nomenclature Database More...HGNCi | HGNC:7146 TRPM1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 603576 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q7Z4N2 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Plasma membrane
- Cell membrane Sequence analysis; Multi-pass membrane protein Sequence analysis1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.9"Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform."
Xu X.-Z.S., Moebius F., Gill D.L., Montell C.
Proc. Natl. Acad. Sci. U.S.A. 98:10692-10697(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION.
- Cell membrane Sequence analysis; Multi-pass membrane protein Sequence analysis1 Publication
Plasma Membrane
- integral component of plasma membrane Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- plasma membrane Source: Reactome
Other locations
- new growing cell tip Source: Ensembl
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 1 – 524 | ExtracellularSequence analysisAdd BLAST | 524 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 525 – 545 | HelicalSequence analysisAdd BLAST | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 546 – 745 | CytoplasmicSequence analysisAdd BLAST | 200 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 746 – 766 | HelicalSequence analysisAdd BLAST | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 767 – 830 | ExtracellularSequence analysisAdd BLAST | 64 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 831 – 851 | HelicalSequence analysisAdd BLAST | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 852 | CytoplasmicSequence analysis | 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 853 – 873 | HelicalSequence analysisAdd BLAST | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 874 – 897 | ExtracellularSequence analysisAdd BLAST | 24 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 898 – 918 | HelicalSequence analysisAdd BLAST | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 919 – 928 | CytoplasmicSequence analysis | 10 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 929 – 949 | HelicalSequence analysisAdd BLAST | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 950 – 961 | ExtracellularSequence analysisAdd BLAST | 12 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 962 – 982 | HelicalSequence analysisAdd BLAST | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 983 – 1054 | CytoplasmicSequence analysisAdd BLAST | 72 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 1055 – 1075 | HelicalSequence analysisAdd BLAST | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 1076 – 1105 | ExtracellularSequence analysisAdd BLAST | 30 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 1106 – 1126 | HelicalSequence analysisAdd BLAST | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 1127 – 1603 | CytoplasmicSequence analysisAdd BLAST | 477 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Cell membrane, Membrane<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Night blindness, congenital stationary, 1C (CSNB1C)3 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.10"Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans."
Li Z., Sergouniotis P.I., Michaelides M., Mackay D.S., Wright G.A., Devery S., Moore A.T., Holder G.E., Robson A.G., Webster A.R.
Am. J. Hum. Genet. 85:711-719(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, VARIANTS CSNB1C CYS-56; CYS-74; GLN-721; GLY-883 AND PHE-1002, VARIANTS TRP-6; ASN-32; MET-605; THR-962; ILE-1395 AND GLY-1438. - Ref.11"Mutations in TRPM1 are a common cause of complete congenital stationary night blindness."
van Genderen M.M., Bijveld M.M., Claassen Y.B., Florijn R.J., Pearring J.N., Meire F.M., McCall M.A., Riemslag F.C., Gregg R.G., Bergen A.A., Kamermans M.
Am. J. Hum. Genet. 85:730-736(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS CSNB1C CYS-74; PRO-99; ARG-364; ARG-534 AND HIS-611. - Ref.12"TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness."
Audo I., Kohl S., Leroy B.P., Munier F.L., Guillonneau X., Mohand-Said S., Bujakowska K., Nandrot E.F., Lorenz B., Preising M., Kellner U., Renner A.B., Bernd A., Antonio A., Moskova-Doumanova V., Lancelot M.E., Poloschek C.M., Drumare I. , Defoort-Dhellemmes S., Wissinger B., Leveillard T., Hamel C.P., Schorderet D.F., De Baere E., Berger W., Jacobson S.G., Zrenner E., Sahel J.A., Bhattacharya S.S., Zeitz C.
Am. J. Hum. Genet. 85:720-729(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CSNB1C CYS-72; PRO-99; PRO-473 AND LYS-541, VARIANTS TRP-6; ASN-32; THR-399; MET-605; HIS-1161; THR-1229; THR-1379; ILE-1395; TRP-1422 AND GLN-1498.
Ref.10
"Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans."
Li Z., Sergouniotis P.I., Michaelides M., Mackay D.S., Wright G.A., Devery S., Moore A.T., Holder G.E., Robson A.G., Webster A.R.
Am. J. Hum. Genet. 85:711-719(2009) [PubMed] [Europe PMC] [Abstract]
Li Z., Sergouniotis P.I., Michaelides M., Mackay D.S., Wright G.A., Devery S., Moore A.T., Holder G.E., Robson A.G., Webster A.R.
Am. J. Hum. Genet. 85:711-719(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANTS CSNB1C CYS-56; CYS-74; GLN-721; GLY-883 AND PHE-1002, VARIANTS TRP-6; ASN-32; MET-605; THR-962; ILE-1395 AND GLY-1438.
Ref.11
"Mutations in TRPM1 are a common cause of complete congenital stationary night blindness."
van Genderen M.M., Bijveld M.M., Claassen Y.B., Florijn R.J., Pearring J.N., Meire F.M., McCall M.A., Riemslag F.C., Gregg R.G., Bergen A.A., Kamermans M.
Am. J. Hum. Genet. 85:730-736(2009) [PubMed] [Europe PMC] [Abstract]
van Genderen M.M., Bijveld M.M., Claassen Y.B., Florijn R.J., Pearring J.N., Meire F.M., McCall M.A., Riemslag F.C., Gregg R.G., Bergen A.A., Kamermans M.
Am. J. Hum. Genet. 85:730-736(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS CSNB1C CYS-74; PRO-99; ARG-364; ARG-534 AND HIS-611.
Ref.12
"TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness."
Audo I., Kohl S., Leroy B.P., Munier F.L., Guillonneau X., Mohand-Said S., Bujakowska K., Nandrot E.F., Lorenz B., Preising M., Kellner U., Renner A.B., Bernd A., Antonio A., Moskova-Doumanova V., Lancelot M.E., Poloschek C.M., Drumare I. , Defoort-Dhellemmes S., Wissinger B., Leveillard T., Hamel C.P., Schorderet D.F., De Baere E., Berger W., Jacobson S.G., Zrenner E., Sahel J.A., Bhattacharya S.S., Zeitz C.
Am. J. Hum. Genet. 85:720-729(2009) [PubMed] [Europe PMC] [Abstract]
Audo I., Kohl S., Leroy B.P., Munier F.L., Guillonneau X., Mohand-Said S., Bujakowska K., Nandrot E.F., Lorenz B., Preising M., Kellner U., Renner A.B., Bernd A., Antonio A., Moskova-Doumanova V., Lancelot M.E., Poloschek C.M., Drumare I. , Defoort-Dhellemmes S., Wissinger B., Leveillard T., Hamel C.P., Schorderet D.F., De Baere E., Berger W., Jacobson S.G., Zrenner E., Sahel J.A., Bhattacharya S.S., Zeitz C.
Am. J. Hum. Genet. 85:720-729(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CSNB1C CYS-72; PRO-99; PRO-473 AND LYS-541, VARIANTS TRP-6; ASN-32; THR-399; MET-605; HIS-1161; THR-1229; THR-1379; ILE-1395; TRP-1422 AND GLN-1498.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
See also OMIM:613216| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063174 | 56 | Y → C in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063175 | 72 | Y → C in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063176 | 74 | R → C in CSNB1C. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063177 | 99 | L → P in CSNB1C. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063178 | 364 | L → R in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063180 | 473 | R → P in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063181 | 534 | G → R in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063182 | 541 | M → K in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063183 | 611 | P → H in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063184 | 721 | R → Q in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063185 | 883 | E → G in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063187 | 1002 | I → F in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Congenital stationary night blindness, Disease mutationOrganism-specific databases
DisGeNET More...DisGeNETi | 4308 |
MalaCards human disease database More...MalaCardsi | TRPM1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 613216 phenotype |
Open Targets More...OpenTargetsi | ENSG00000134160 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 215 Congenital stationary night blindness |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA35496 |
Chemistry databases
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYi | 493 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | TRPM1 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 182701419 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000328930 | 1 – 1603 | Transient receptor potential cation channel subfamily M member 1Add BLAST | 1603 |
Proteomic databases
MaxQB - The MaxQuant DataBase More...MaxQBi | Q7Z4N2 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q7Z4N2 |
PeptideAtlas More...PeptideAtlasi | Q7Z4N2 |
PRoteomics IDEntifications database More...PRIDEi | Q7Z4N2 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 69213 69214 [Q7Z4N2-2] 69215 [Q7Z4N2-3] 69216 [Q7Z4N2-4] |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q7Z4N2 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q7Z4N2 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
Expressed in the retina where it localizes to the outer plexiform layer. Highly expressed in benign melanocytic nevi and diffusely expressed in various in situ melanomas, but not detected in melanoma metastases. Also expressed in melanocytes and pigmented metastatic melanoma cell lines. In melanocytes expression appears to be regulated at the level of transcription and mRNA processing.3 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.7"Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis."
Duncan L.M., Deeds J., Hunter J., Shao J., Holmgren L.M., Woolf E.A., Tepper R.I., Shyjan A.W.
Cancer Res. 58:1515-1520(1998) [PubMed] [Europe PMC] [Abstract]Cited for: TISSUE SPECIFICITY. - Ref.8"Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells."
Fang D., Setaluri V.
Biochem. Biophys. Res. Commun. 279:53-61(2000) [PubMed] [Europe PMC] [Abstract]Cited for: TISSUE SPECIFICITY, INDUCTION. - Ref.11"Mutations in TRPM1 are a common cause of complete congenital stationary night blindness."
van Genderen M.M., Bijveld M.M., Claassen Y.B., Florijn R.J., Pearring J.N., Meire F.M., McCall M.A., Riemslag F.C., Gregg R.G., Bergen A.A., Kamermans M.
Am. J. Hum. Genet. 85:730-736(2009) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS CSNB1C CYS-74; PRO-99; ARG-364; ARG-534 AND HIS-611.
<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni
Up-regulated by hexamethylene bisacetamide (HBMA).1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells."
Fang D., Setaluri V.
Biochem. Biophys. Res. Commun. 279:53-61(2000) [PubMed] [Europe PMC] [Abstract]Cited for: TISSUE SPECIFICITY, INDUCTION.
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000134160 |
CleanEx database of gene expression profiles More...CleanExi | HS_TRPM1 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q7Z4N2 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q7Z4N2 HS |
Organism-specific databases
Human Protein Atlas More...HPAi | HPA014779 HPA014785 |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 110453, 4 interactors |
Protein interaction database and analysis system More...IntActi | Q7Z4N2, 2 interactors |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000380897 |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q7Z4N2 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Coiled coil
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili | 1179 – 1240 | Sequence analysisAdd BLAST | 62 |
<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM1 sub-subfamily. [View classification]Curated
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG3614 Eukaryota ENOG410XR5B LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00760000119127 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000230920 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG055663 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q7Z4N2 |
KEGG Orthology (KO) More...KOi | K04976 |
Identification of Orthologs from Complete Genome Data More...OMAi | AVSRFQY |
Database of Orthologous Groups More...OrthoDBi | EOG091G0DHL |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q7Z4N2 |
TreeFam database of animal gene trees More...TreeFami | TF314204 |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 1.20.5.1010, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR005821 Ion_trans_dom IPR029588 TRPM1 IPR032415 TRPM_tetra IPR037162 TRPM_tetra_sf |
The PANTHER Classification System More...PANTHERi | PTHR13800:SF13 PTHR13800:SF13, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF00520 Ion_trans, 1 hit PF16519 TRPM_tetra, 1 hit |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7)i
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
This entry describes 7 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basketAdded to basket
Isoform 11 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.4"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS
60 70 80 90 100
YPTDSYGVLE FQGGGYSNKA MYIRVSYDTK PDSLLHLMVK DWQLELPKLL
110 120 130 140 150
ISVHGGLQNF EMQPKLKQVF GKGLIKAAMT TGAWIFTGGV STGVISHVGD
160 170 180 190 200
ALKDHSSKSR GRVCAIGIAP WGIVENKEDL VGKDVTRVYQ TMSNPLSKLS
210 220 230 240 250
VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN TRLGQGVPLV
260 270 280 290 300
GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKYCEEGG
310 320 330 340 350
IINESLREQL LVTIQKTFNY NKAQSHQLFA IIMECMKKKE LVTVFRMGSE
360 370 380 390 400
GQQDIEMAIL TALLKGTNVS APDQLSLALA WNRVDIARSQ IFVFGPHWPP
410 420 430 440 450
LGSLAPPTDS KATEKEKKPP MATTKGGRGK GKGKKKGKVK EEVEEETDPR
460 470 480 490 500
KIELLNWVNA LEQAMLDALV LDRVDFVKLL IENGVNMQHF LTIPRLEELY
510 520 530 540 550
NTRLGPPNTL HLLVRDVKKS NLPPDYHISL IDIGLVLEYL MGGAYRCNYT
560 570 580 590 600
RKNFRTLYNN LFGPKRPKAL KLLGMEDDEP PAKGKKKKKK KKEEEIDIDV
610 620 630 640 650
DDPAVSRFQY PFHELMVWAV LMKRQKMAVF LWQRGEESMA KALVACKLYK
660 670 680 690 700
AMAHESSESD LVDDISQDLD NNSKDFGQLA LELLDQSYKH DEQIAMKLLT
710 720 730 740 750
YELKNWSNST CLKLAVAAKH RDFIAHTCSQ MLLTDMWMGR LRMRKNPGLK
760 770 780 790 800
VIMGILLPPT ILFLEFRTYD DFSYQTSKEN EDGKEKEEEN TDANADAGSR
810 820 830 840 850
KGDEENEHKK QRSIPIGTKI CEFYNAPIVK FWFYTISYLG YLLLFNYVIL
860 870 880 890 900
VRMDGWPSLQ EWIVISYIVS LALEKIREIL MSEPGKLSQK IKVWLQEYWN
910 920 930 940 950
ITDLVAISTF MIGAILRLQN QPYMGYGRVI YCVDIIFWYI RVLDIFGVNK
960 970 980 990 1000
YLGPYVMMIG KMMIDMLYFV VIMLVVLMSF GVARQAILHP EEKPSWKLAR
1010 1020 1030 1040 1050
NIFYMPYWMI YGEVFADQID LYAMEINPPC GENLYDEEGK RLPPCIPGAW
1060 1070 1080 1090 1100
LTPALMACYL LVANILLVNL LIAVFNNTFF EVKSISNQVW KFQRYQLIMT
1110 1120 1130 1140 1150
FHDRPVLPPP MIILSHIYII IMRLSGRCRK KREGDQEERD RGLKLFLSDE
1160 1170 1180 1190 1200
ELKRLHEFEE QCVQEHFREK EDEQQSSSDE RIRVTSERVE NMSMRLEEIN
1210 1220 1230 1240 1250
ERETFMKTSL QTVDLRLAQL EELSNRMVNA LENLAGIDRS DLIQARSRAS
1260 1270 1280 1290 1300
SECEATYLLR QSSINSADGY SLYRYHFNGE ELLFEDTSLS TSPGTGVRKK
1310 1320 1330 1340 1350
TCSFRIKEEK DVKTHLVPEC QNSLHLSLGT STSATPDGSH LAVDDLKNAE
1360 1370 1380 1390 1400
ESKLGPDIGI SKEDDERQTD SKKEETISPS LNKTDVIHGQ DKSDVQNTQL
1410 1420 1430 1440 1450
TVETTNIEGT ISYPLEETKI TRYFPDETIN ACKTMKSRSF VYSRGRKLVG
1460 1470 1480 1490 1500
GVNQDVEYSS ITDQQLTTEW QCQVQKITRS HSTDIPYIVS EAAVQAEHKE
1510 1520 1530 1540 1550
QFADMQDEHH VAEAIPRIPR LSLTITDRNG MENLLSVKPD QTLGFPSLRS
1560 1570 1580 1590 1600
KSLHGHPRNV KSIQGKLDRS GHASSVSSLV IVSGMTAEEK KVKKEKASTE
TEC
Note: No experimental confirmation available.Curated
Show »Length:1,603
Mass (Da):182,178
Last modified:April 8, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:i8B9658FAE3F7B32F
Isoform 22 PublicationsShow »
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.1"Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1)."
Hunter J.J., Shao J., Smutko J.S., Dussault B.J., Nagle D.L., Woolf E.A., Holmgren L.M., Moore K.J., Shyjan A.W.
Genomics 54:116-123(1998) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS THR-399 AND GLN-1498. - Ref.3"ProX human full-length cDNA cloning project."
Sano M., Okabayashi K., Miyauchi A., Gonoi T.
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databasesCited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
The sequence of this isoform differs from the canonical sequence as follows:
1-70: Missing.
10 20 30 40 50
MYIRVSYDTK PDSLLHLMVK DWQLELPKLL ISVHGGLQNF EMQPKLKQVF
60 70 80 90 100
GKGLIKAAMT TGAWIFTGGV STGVISHVGD ALKDHSSKSR GRVCAIGIAP
110 120 130 140 150
WGIVENKEDL VGKDVTRVYQ TMSNPLSKLS VLNNSHTHFI LADNGTLGKY
160 170 180 190 200
GAEVKLRRLL EKHISLQKIN TRLGQGVPLV GLVVEGGPNV VSIVLEYLQE
210 220 230 240 250
EPPIPVVICD GSGRASDILS FAHKYCEEGG IINESLREQL LVTIQKTFNY
260 270 280 290 300
NKAQSHQLFA IIMECMKKKE LVTVFRMGSE GQQDIEMAIL TALLKGTNVS
310 320 330 340 350
APDQLSLALA WNRVDIARSQ IFVFGPHWPP LGSLAPPTDS KATEKEKKPP
360 370 380 390 400
MATTKGGRGK GKGKKKGKVK EEVEEETDPR KIELLNWVNA LEQAMLDALV
410 420 430 440 450
LDRVDFVKLL IENGVNMQHF LTIPRLEELY NTRLGPPNTL HLLVRDVKKS
460 470 480 490 500
NLPPDYHISL IDIGLVLEYL MGGAYRCNYT RKNFRTLYNN LFGPKRPKAL
510 520 530 540 550
KLLGMEDDEP PAKGKKKKKK KKEEEIDIDV DDPAVSRFQY PFHELMVWAV
560 570 580 590 600
LMKRQKMAVF LWQRGEESMA KALVACKLYK AMAHESSESD LVDDISQDLD
610 620 630 640 650
NNSKDFGQLA LELLDQSYKH DEQIAMKLLT YELKNWSNST CLKLAVAAKH
660 670 680 690 700
RDFIAHTCSQ MLLTDMWMGR LRMRKNPGLK VIMGILLPPT ILFLEFRTYD
710 720 730 740 750
DFSYQTSKEN EDGKEKEEEN TDANADAGSR KGDEENEHKK QRSIPIGTKI
760 770 780 790 800
CEFYNAPIVK FWFYTISYLG YLLLFNYVIL VRMDGWPSLQ EWIVISYIVS
810 820 830 840 850
LALEKIREIL MSEPGKLSQK IKVWLQEYWN ITDLVAISTF MIGAILRLQN
860 870 880 890 900
QPYMGYGRVI YCVDIIFWYI RVLDIFGVNK YLGPYVMMIG KMMIDMLYFV
910 920 930 940 950
VIMLVVLMSF GVARQAILHP EEKPSWKLAR NIFYMPYWMI YGEVFADQID
960 970 980 990 1000
LYAMEINPPC GENLYDEEGK RLPPCIPGAW LTPALMACYL LVANILLVNL
1010 1020 1030 1040 1050
LIAVFNNTFF EVKSISNQVW KFQRYQLIMT FHDRPVLPPP MIILSHIYII
1060 1070 1080 1090 1100
IMRLSGRCRK KREGDQEERD RGLKLFLSDE ELKRLHEFEE QCVQEHFREK
1110 1120 1130 1140 1150
EDEQQSSSDE RIRVTSERVE NMSMRLEEIN ERETFMKTSL QTVDLRLAQL
1160 1170 1180 1190 1200
EELSNRMVNA LENLAGIDRS DLIQARSRAS SECEATYLLR QSSINSADGY
1210 1220 1230 1240 1250
SLYRYHFNGE ELLFEDTSLS TSPGTGVRKK TCSFRIKEEK DVKTHLVPEC
1260 1270 1280 1290 1300
QNSLHLSLGT STSATPDGSH LAVDDLKNAE ESKLGPDIGI SKEDDERQTD
1310 1320 1330 1340 1350
SKKEETISPS LNKTDVIHGQ DKSDVQNTQL TVETTNIEGT ISYPLEETKI
1360 1370 1380 1390 1400
TRYFPDETIN ACKTMKSRSF VYSRGRKLVG GVNQDVEYSS ITDQQLTTEW
1410 1420 1430 1440 1450
QCQVQKITRS HSTDIPYIVS EAAVQAEHKE QFADMQDEHH VAEAIPRIPR
1460 1470 1480 1490 1500
LSLTITDRNG MENLLSVKPD QTLGFPSLRS KSLHGHPRNV KSIQGKLDRS
1510 1520 1530
GHASSVSSLV IVSGMTAEEK KVKKEKASTE TEC
Length:1,533
Mass (Da):174,418
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:iD824DC467BC1A70F
Isoform 31 PublicationShow »
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.3"ProX human full-length cDNA cloning project."
Sano M., Okabayashi K., Miyauchi A., Gonoi T.
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databasesCited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
The sequence of this isoform differs from the canonical sequence as follows:
295-300: Missing.
10 20 30 40 50
MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS
60 70 80 90 100
YPTDSYGVLE FQGGGYSNKA MYIRVSYDTK PDSLLHLMVK DWQLELPKLL
110 120 130 140 150
ISVHGGLQNF EMQPKLKQVF GKGLIKAAMT TGAWIFTGGV STGVISHVGD
160 170 180 190 200
ALKDHSSKSR GRVCAIGIAP WGIVENKEDL VGKDVTRVYQ TMSNPLSKLS
210 220 230 240 250
VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN TRLGQGVPLV
260 270 280 290 300
GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKIINESL
310 320 330 340 350
REQLLVTIQK TFNYNKAQSH QLFAIIMECM KKKELVTVFR MGSEGQQDIE
360 370 380 390 400
MAILTALLKG TNVSAPDQLS LALAWNRVDI ARSQIFVFGP HWPPLGSLAP
410 420 430 440 450
PTDSKATEKE KKPPMATTKG GRGKGKGKKK GKVKEEVEEE TDPRKIELLN
460 470 480 490 500
WVNALEQAML DALVLDRVDF VKLLIENGVN MQHFLTIPRL EELYNTRLGP
510 520 530 540 550
PNTLHLLVRD VKKSNLPPDY HISLIDIGLV LEYLMGGAYR CNYTRKNFRT
560 570 580 590 600
LYNNLFGPKR PKALKLLGME DDEPPAKGKK KKKKKKEEEI DIDVDDPAVS
610 620 630 640 650
RFQYPFHELM VWAVLMKRQK MAVFLWQRGE ESMAKALVAC KLYKAMAHES
660 670 680 690 700
SESDLVDDIS QDLDNNSKDF GQLALELLDQ SYKHDEQIAM KLLTYELKNW
710 720 730 740 750
SNSTCLKLAV AAKHRDFIAH TCSQMLLTDM WMGRLRMRKN PGLKVIMGIL
760 770 780 790 800
LPPTILFLEF RTYDDFSYQT SKENEDGKEK EEENTDANAD AGSRKGDEEN
810 820 830 840 850
EHKKQRSIPI GTKICEFYNA PIVKFWFYTI SYLGYLLLFN YVILVRMDGW
860 870 880 890 900
PSLQEWIVIS YIVSLALEKI REILMSEPGK LSQKIKVWLQ EYWNITDLVA
910 920 930 940 950
ISTFMIGAIL RLQNQPYMGY GRVIYCVDII FWYIRVLDIF GVNKYLGPYV
960 970 980 990 1000
MMIGKMMIDM LYFVVIMLVV LMSFGVARQA ILHPEEKPSW KLARNIFYMP
1010 1020 1030 1040 1050
YWMIYGEVFA DQIDLYAMEI NPPCGENLYD EEGKRLPPCI PGAWLTPALM
1060 1070 1080 1090 1100
ACYLLVANIL LVNLLIAVFN NTFFEVKSIS NQVWKFQRYQ LIMTFHDRPV
1110 1120 1130 1140 1150
LPPPMIILSH IYIIIMRLSG RCRKKREGDQ EERDRGLKLF LSDEELKRLH
1160 1170 1180 1190 1200
EFEEQCVQEH FREKEDEQQS SSDERIRVTS ERVENMSMRL EEINERETFM
1210 1220 1230 1240 1250
KTSLQTVDLR LAQLEELSNR MVNALENLAG IDRSDLIQAR SRASSECEAT
1260 1270 1280 1290 1300
YLLRQSSINS ADGYSLYRYH FNGEELLFED TSLSTSPGTG VRKKTCSFRI
1310 1320 1330 1340 1350
KEEKDVKTHL VPECQNSLHL SLGTSTSATP DGSHLAVDDL KNAEESKLGP
1360 1370 1380 1390 1400
DIGISKEDDE RQTDSKKEET ISPSLNKTDV IHGQDKSDVQ NTQLTVETTN
1410 1420 1430 1440 1450
IEGTISYPLE ETKITRYFPD ETINACKTMK SRSFVYSRGR KLVGGVNQDV
1460 1470 1480 1490 1500
EYSSITDQQL TTEWQCQVQK ITRSHSTDIP YIVSEAAVQA EHKEQFADMQ
1510 1520 1530 1540 1550
DEHHVAEAIP RIPRLSLTIT DRNGMENLLS VKPDQTLGFP SLRSKSLHGH
1560 1570 1580 1590
PRNVKSIQGK LDRSGHASSV SSLVIVSGMT AEEKKVKKEK ASTETEC
Length:1,597
Mass (Da):181,540
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:i44A93B1C9CF533C7
Isoform 41 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.3"ProX human full-length cDNA cloning project."
Sano M., Okabayashi K., Miyauchi A., Gonoi T.
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databasesCited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
The sequence of this isoform differs from the canonical sequence as follows:
301-1603: Missing.
10 20 30 40 50
MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS
60 70 80 90 100
YPTDSYGVLE FQGGGYSNKA MYIRVSYDTK PDSLLHLMVK DWQLELPKLL
110 120 130 140 150
ISVHGGLQNF EMQPKLKQVF GKGLIKAAMT TGAWIFTGGV STGVISHVGD
160 170 180 190 200
ALKDHSSKSR GRVCAIGIAP WGIVENKEDL VGKDVTRVYQ TMSNPLSKLS
210 220 230 240 250
VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN TRLGQGVPLV
260 270 280 290 300
GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKYCEEGG
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »Length:300
Mass (Da):32,814
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:iEA1EE23D05248823
Isoform 5 (identifier: Q7Z4N2-5) [UniParc]FASTAAdd to basketAdded to basketShow »
The sequence of this isoform differs from the canonical sequence as follows:
1-1: M → MSSFKRGSLKSSTSGSQKGQKSWIEKTFCKRECIFVIPSM
10 20 30 40 50
MSSFKRGSLK SSTSGSQKGQ KSWIEKTFCK RECIFVIPSM KDSNRCCCGQ
60 70 80 90 100
FTNQHIPPLP SATPSKNEEE SKQVETQPEK WSVAKHTQSY PTDSYGVLEF
110 120 130 140 150
QGGGYSNKAM YIRVSYDTKP DSLLHLMVKD WQLELPKLLI SVHGGLQNFE
160 170 180 190 200
MQPKLKQVFG KGLIKAAMTT GAWIFTGGVS TGVISHVGDA LKDHSSKSRG
210 220 230 240 250
RVCAIGIAPW GIVENKEDLV GKDVTRVYQT MSNPLSKLSV LNNSHTHFIL
260 270 280 290 300
ADNGTLGKYG AEVKLRRLLE KHISLQKINT RLGQGVPLVG LVVEGGPNVV
310 320 330 340 350
SIVLEYLQEE PPIPVVICDG SGRASDILSF AHKYCEEGGI INESLREQLL
360 370 380 390 400
VTIQKTFNYN KAQSHQLFAI IMECMKKKEL VTVFRMGSEG QQDIEMAILT
410 420 430 440 450
ALLKGTNVSA PDQLSLALAW NRVDIARSQI FVFGPHWPPL GSLAPPTDSK
460 470 480 490 500
ATEKEKKPPM ATTKGGRGKG KGKKKGKVKE EVEEETDPRK IELLNWVNAL
510 520 530 540 550
EQAMLDALVL DRVDFVKLLI ENGVNMQHFL TIPRLEELYN TRLGPPNTLH
560 570 580 590 600
LLVRDVKKSN LPPDYHISLI DIGLVLEYLM GGAYRCNYTR KNFRTLYNNL
610 620 630 640 650
FGPKRPKALK LLGMEDDEPP AKGKKKKKKK KEEEIDIDVD DPAVSRFQYP
660 670 680 690 700
FHELMVWAVL MKRQKMAVFL WQRGEESMAK ALVACKLYKA MAHESSESDL
710 720 730 740 750
VDDISQDLDN NSKDFGQLAL ELLDQSYKHD EQIAMKLLTY ELKNWSNSTC
760 770 780 790 800
LKLAVAAKHR DFIAHTCSQM LLTDMWMGRL RMRKNPGLKV IMGILLPPTI
810 820 830 840 850
LFLEFRTYDD FSYQTSKENE DGKEKEEENT DANADAGSRK GDEENEHKKQ
860 870 880 890 900
RSIPIGTKIC EFYNAPIVKF WFYTISYLGY LLLFNYVILV RMDGWPSLQE
910 920 930 940 950
WIVISYIVSL ALEKIREILM SEPGKLSQKI KVWLQEYWNI TDLVAISTFM
960 970 980 990 1000
IGAILRLQNQ PYMGYGRVIY CVDIIFWYIR VLDIFGVNKY LGPYVMMIGK
1010 1020 1030 1040 1050
MMIDMLYFVV IMLVVLMSFG VARQAILHPE EKPSWKLARN IFYMPYWMIY
1060 1070 1080 1090 1100
GEVFADQIDL YAMEINPPCG ENLYDEEGKR LPPCIPGAWL TPALMACYLL
1110 1120 1130 1140 1150
VANILLVNLL IAVFNNTFFE VKSISNQVWK FQRYQLIMTF HDRPVLPPPM
1160 1170 1180 1190 1200
IILSHIYIII MRLSGRCRKK REGDQEERDR GLKLFLSDEE LKRLHEFEEQ
1210 1220 1230 1240 1250
CVQEHFREKE DEQQSSSDER IRVTSERVEN MSMRLEEINE RETFMKTSLQ
1260 1270 1280 1290 1300
TVDLRLAQLE ELSNRMVNAL ENLAGIDRSD LIQARSRASS ECEATYLLRQ
1310 1320 1330 1340 1350
SSINSADGYS LYRYHFNGEE LLFEDTSLST SPGTGVRKKT CSFRIKEEKD
1360 1370 1380 1390 1400
VKTHLVPECQ NSLHLSLGTS TSATPDGSHL AVDDLKNAEE SKLGPDIGIS
1410 1420 1430 1440 1450
KEDDERQTDS KKEETISPSL NKTDVIHGQD KSDVQNTQLT VETTNIEGTI
1460 1470 1480 1490 1500
SYPLEETKIT RYFPDETINA CKTMKSRSFV YSRGRKLVGG VNQDVEYSSI
1510 1520 1530 1540 1550
TDQQLTTEWQ CQVQKITRSH STDIPYIVSE AAVQAEHKEQ FADMQDEHHV
1560 1570 1580 1590 1600
AEAIPRIPRL SLTITDRNGM ENLLSVKPDQ TLGFPSLRSK SLHGHPRNVK
1610 1620 1630 1640
SIQGKLDRSG HASSVSSLVI VSGMTAEEKK VKKEKASTET EC
Length:1,642
Mass (Da):186,545
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:i8FCF58496AF8504D
Isoform 6 (identifier: Q7Z4N2-6) [UniParc]FASTAAdd to basketAdded to basketShow »
The sequence of this isoform differs from the canonical sequence as follows:
1-1: M → MGQKSWIEKTFCKRECIFVIPSM
10 20 30 40 50
MGQKSWIEKT FCKRECIFVI PSMKDSNRCC CGQFTNQHIP PLPSATPSKN
60 70 80 90 100
EEESKQVETQ PEKWSVAKHT QSYPTDSYGV LEFQGGGYSN KAMYIRVSYD
110 120 130 140 150
TKPDSLLHLM VKDWQLELPK LLISVHGGLQ NFEMQPKLKQ VFGKGLIKAA
160 170 180 190 200
MTTGAWIFTG GVSTGVISHV GDALKDHSSK SRGRVCAIGI APWGIVENKE
210 220 230 240 250
DLVGKDVTRV YQTMSNPLSK LSVLNNSHTH FILADNGTLG KYGAEVKLRR
260 270 280 290 300
LLEKHISLQK INTRLGQGVP LVGLVVEGGP NVVSIVLEYL QEEPPIPVVI
310 320 330 340 350
CDGSGRASDI LSFAHKYCEE GGIINESLRE QLLVTIQKTF NYNKAQSHQL
360 370 380 390 400
FAIIMECMKK KELVTVFRMG SEGQQDIEMA ILTALLKGTN VSAPDQLSLA
410 420 430 440 450
LAWNRVDIAR SQIFVFGPHW PPLGSLAPPT DSKATEKEKK PPMATTKGGR
460 470 480 490 500
GKGKGKKKGK VKEEVEEETD PRKIELLNWV NALEQAMLDA LVLDRVDFVK
510 520 530 540 550
LLIENGVNMQ HFLTIPRLEE LYNTRLGPPN TLHLLVRDVK KSNLPPDYHI
560 570 580 590 600
SLIDIGLVLE YLMGGAYRCN YTRKNFRTLY NNLFGPKRPK ALKLLGMEDD
610 620 630 640 650
EPPAKGKKKK KKKKEEEIDI DVDDPAVSRF QYPFHELMVW AVLMKRQKMA
660 670 680 690 700
VFLWQRGEES MAKALVACKL YKAMAHESSE SDLVDDISQD LDNNSKDFGQ
710 720 730 740 750
LALELLDQSY KHDEQIAMKL LTYELKNWSN STCLKLAVAA KHRDFIAHTC
760 770 780 790 800
SQMLLTDMWM GRLRMRKNPG LKVIMGILLP PTILFLEFRT YDDFSYQTSK
810 820 830 840 850
ENEDGKEKEE ENTDANADAG SRKGDEENEH KKQRSIPIGT KICEFYNAPI
860 870 880 890 900
VKFWFYTISY LGYLLLFNYV ILVRMDGWPS LQEWIVISYI VSLALEKIRE
910 920 930 940 950
ILMSEPGKLS QKIKVWLQEY WNITDLVAIS TFMIGAILRL QNQPYMGYGR
960 970 980 990 1000
VIYCVDIIFW YIRVLDIFGV NKYLGPYVMM IGKMMIDMLY FVVIMLVVLM
1010 1020 1030 1040 1050
SFGVARQAIL HPEEKPSWKL ARNIFYMPYW MIYGEVFADQ IDLYAMEINP
1060 1070 1080 1090 1100
PCGENLYDEE GKRLPPCIPG AWLTPALMAC YLLVANILLV NLLIAVFNNT
1110 1120 1130 1140 1150
FFEVKSISNQ VWKFQRYQLI MTFHDRPVLP PPMIILSHIY IIIMRLSGRC
1160 1170 1180 1190 1200
RKKREGDQEE RDRGLKLFLS DEELKRLHEF EEQCVQEHFR EKEDEQQSSS
1210 1220 1230 1240 1250
DERIRVTSER VENMSMRLEE INERETFMKT SLQTVDLRLA QLEELSNRMV
1260 1270 1280 1290 1300
NALENLAGID RSDLIQARSR ASSECEATYL LRQSSINSAD GYSLYRYHFN
1310 1320 1330 1340 1350
GEELLFEDTS LSTSPGTGVR KKTCSFRIKE EKDVKTHLVP ECQNSLHLSL
1360 1370 1380 1390 1400
GTSTSATPDG SHLAVDDLKN AEESKLGPDI GISKEDDERQ TDSKKEETIS
1410 1420 1430 1440 1450
PSLNKTDVIH GQDKSDVQNT QLTVETTNIE GTISYPLEET KITRYFPDET
1460 1470 1480 1490 1500
INACKTMKSR SFVYSRGRKL VGGVNQDVEY SSITDQQLTT EWQCQVQKIT
1510 1520 1530 1540 1550
RSHSTDIPYI VSEAAVQAEH KEQFADMQDE HHVAEAIPRI PRLSLTITDR
1560 1570 1580 1590 1600
NGMENLLSVK PDQTLGFPSL RSKSLHGHPR NVKSIQGKLD RSGHASSVSS
1610 1620
LVIVSGMTAE EKKVKKEKAS TETEC
Length:1,625
Mass (Da):184,792
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:i242329CE4A78C0F6
Isoform 7 (identifier: Q7Z4N2-7) [UniParc]FASTAAdd to basketAdded to basketShow »
The sequence of this isoform differs from the canonical sequence as follows:
72-136: YIRVSYDTKP...AAMTTGAWIF → VRKAFRHGAT...AMRLGNWTPL
137-1603: Missing.
10 20 30 40 50
MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS
60 70 80 90 100
YPTDSYGVLE FQGGGYSNKA MVRKAFRHGA TRITAFIGGQ SPSPKLQIPG
110 120 130
LLHGCGSIFL DISLKNQEIY LCTWLLAMRL GNWTPL
Length:136
Mass (Da):15,099
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:iEAA6CA0DA32B87D7
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 1 | M → T in ADJ52077 (PubMed:19436059).Curated | 1 | |
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 369 | V → L in BAC80200 (Ref. 3) Curated | 1 | |
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 1195 | R → G in BAC80201 (Ref. 3) Curated | 1 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063173 | 6 | R → W2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052370 | 32 | S → N3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063174 | 56 | Y → C in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063175 | 72 | Y → C in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063176 | 74 | R → C in CSNB1C. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063177 | 99 | L → P in CSNB1C. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063178 | 364 | L → R in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063179 | 399 | P → T2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063180 | 473 | R → P in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063181 | 534 | G → R in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063182 | 541 | M → K in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052371 | 605 | V → M2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063183 | 611 | P → H in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063184 | 721 | R → Q in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063185 | 883 | E → G in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063186 | 962 | M → T in a patient with night blindness started in the third decade; associated in cis with G-1438. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063187 | 1002 | I → F in CSNB1C. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063188 | 1161 | Q → H1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052372 | 1229 | N → T1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052373 | 1305 | R → H. Corresponds to variant dbSNP:rs13380059Ensembl. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063189 | 1379 | P → T1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052374 | 1395 | V → I2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052375 | 1422 | R → G. Corresponds to variant dbSNP:rs3784587Ensembl. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063190 | 1422 | R → W1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063191 | 1438 | R → G in a patient with night blindness started in the third decade; associated in cis with T-962. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052376 | 1498 | H → Q2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Alternative sequence
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_052748 | 1 – 70 | Missing in isoform 2. 2 Publications <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 70 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_046786 | 1 | M → MSSFKRGSLKSSTSGSQKGQ KSWIEKTFCKRECIFVIPSM in isoform 5. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_046787 | 1 | M → MGQKSWIEKTFCKRECIFVI PSM in isoform 6. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_046788 | 72 – 136 | YIRVS…GAWIF → VRKAFRHGATRITAFIGGQS PSPKLQIPGLLHGCGSIFLD ISLKNQEIYLCTWLLAMRLG NWTPL in isoform 7. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 65 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_046789 | 137 – 1603 | Missing in isoform 7. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 1467 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_052749 | 295 – 300 | Missing in isoform 3. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 6 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_052750 | 301 – 1603 | Missing in isoform 4. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 1303 |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | AF071787 mRNA Translation: AAC80000.1 HM135790 mRNA Translation: ADJ52077.1 HM135791 mRNA Translation: ADJ52078.1 AB115498 mRNA Translation: BAC80200.1 AB115499 mRNA Translation: BAC80201.1 AB115500 mRNA Translation: BAC80202.1 AB115501 mRNA Translation: BAC80203.1 AB115502 mRNA Translation: BAC80204.1 AC009562 Genomic DNA No translation available. AC090829 Genomic DNA No translation available. CH471216 Genomic DNA Translation: EAW61261.1 BC058286 mRNA Translation: AAH58286.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS10024.2 [Q7Z4N2-1] CCDS58345.1 [Q7Z4N2-7] CCDS58346.1 [Q7Z4N2-6] CCDS58347.1 [Q7Z4N2-5] |
NCBI Reference Sequences More...RefSeqi | NP_001238949.1, NM_001252020.1 [Q7Z4N2-5] NP_001238953.1, NM_001252024.1 [Q7Z4N2-6] NP_001238959.1, NM_001252030.1 [Q7Z4N2-7] NP_002411.3, NM_002420.5 [Q7Z4N2-1] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.155942 Hs.732541 |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000256552; ENSP00000256552; ENSG00000134160 [Q7Z4N2-6] ENST00000397795; ENSP00000380897; ENSG00000134160 [Q7Z4N2-1] ENST00000542188; ENSP00000437849; ENSG00000134160 [Q7Z4N2-5] ENST00000559179; ENSP00000453851; ENSG00000134160 [Q7Z4N2-7] ENST00000560658; ENSP00000454077; ENSG00000134160 [Q7Z4N2-4] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 4308 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:4308 |
UCSC genome browser More...UCSCi | uc001zfm.4 human [Q7Z4N2-1] |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi
Alternative splicing, Polymorphism<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| Q7Z4N2 | Transient receptor potential cation channel subfamily M member 1 (Fragment) | 1390 | |||
| UPI00084040C3 | 1696 | ||||
| transient receptor potential cation channel subfamily M member 1 | 1685 | ||||
| UPI000626A9D4 | 1648 | ||||
| Transient receptor potential cation channel subfamily M member 1 | 1646 | ||||
| +123 | |||||
| Q7Z4N2-7 | TRPM1 isoform 12 (Fragment) | 136 | |||
| TRPM1 isoform 12 (Fragment) | 136 | ||||
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi
| Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | AF071787 mRNA Translation: AAC80000.1 HM135790 mRNA Translation: ADJ52077.1 HM135791 mRNA Translation: ADJ52078.1 AB115498 mRNA Translation: BAC80200.1 AB115499 mRNA Translation: BAC80201.1 AB115500 mRNA Translation: BAC80202.1 AB115501 mRNA Translation: BAC80203.1 AB115502 mRNA Translation: BAC80204.1 AC009562 Genomic DNA No translation available. AC090829 Genomic DNA No translation available. CH471216 Genomic DNA Translation: EAW61261.1 BC058286 mRNA Translation: AAH58286.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS10024.2 [Q7Z4N2-1] CCDS58345.1 [Q7Z4N2-7] CCDS58346.1 [Q7Z4N2-6] CCDS58347.1 [Q7Z4N2-5] |
NCBI Reference Sequences More...RefSeqi | NP_001238949.1, NM_001252020.1 [Q7Z4N2-5] NP_001238953.1, NM_001252024.1 [Q7Z4N2-6] NP_001238959.1, NM_001252030.1 [Q7Z4N2-7] NP_002411.3, NM_002420.5 [Q7Z4N2-1] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.155942 Hs.732541 |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q7Z4N2 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 110453, 4 interactors |
Protein interaction database and analysis system More...IntActi | Q7Z4N2, 2 interactors |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000380897 |
Chemistry databases
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYi | 493 |
Protein family/group databases
Transport Classification Database More...TCDBi | 1.A.4.5.2 the transient receptor potential ca(2+) channel (trp-cc) family |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q7Z4N2 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q7Z4N2 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | TRPM1 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 182701419 |
Proteomic databases
MaxQB - The MaxQuant DataBase More...MaxQBi | Q7Z4N2 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q7Z4N2 |
PeptideAtlas More...PeptideAtlasi | Q7Z4N2 |
PRoteomics IDEntifications database More...PRIDEi | Q7Z4N2 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 69213 69214 [Q7Z4N2-2] 69215 [Q7Z4N2-3] 69216 [Q7Z4N2-4] |
Protocols and materials databases
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000256552; ENSP00000256552; ENSG00000134160 [Q7Z4N2-6] ENST00000397795; ENSP00000380897; ENSG00000134160 [Q7Z4N2-1] ENST00000542188; ENSP00000437849; ENSG00000134160 [Q7Z4N2-5] ENST00000559179; ENSP00000453851; ENSG00000134160 [Q7Z4N2-7] ENST00000560658; ENSP00000454077; ENSG00000134160 [Q7Z4N2-4] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 4308 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:4308 |
UCSC genome browser More...UCSCi | uc001zfm.4 human [Q7Z4N2-1] |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 4308 |
DisGeNET More...DisGeNETi | 4308 |
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000134160.13 |
GeneCards: human genes, protein and diseases More...GeneCardsi | TRPM1 |
Human Gene Nomenclature Database More...HGNCi | HGNC:7146 TRPM1 |
Human Protein Atlas More...HPAi | HPA014779 HPA014785 |
MalaCards human disease database More...MalaCardsi | TRPM1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 603576 gene 613216 phenotype |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q7Z4N2 |
Open Targets More...OpenTargetsi | ENSG00000134160 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 215 Congenital stationary night blindness |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA35496 |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG3614 Eukaryota ENOG410XR5B LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00760000119127 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000230920 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG055663 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q7Z4N2 |
KEGG Orthology (KO) More...KOi | K04976 |
Identification of Orthologs from Complete Genome Data More...OMAi | AVSRFQY |
Database of Orthologous Groups More...OrthoDBi | EOG091G0DHL |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q7Z4N2 |
TreeFam database of animal gene trees More...TreeFami | TF314204 |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-3295583 TRP channels |
SIGNOR Signaling Network Open Resource More...SIGNORi | Q7Z4N2 |
Miscellaneous databases
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data More...ChiTaRSi | TRPM1 human |
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | TRPM1 |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 4308 |
Protein Ontology More...PROi | PR:Q7Z4N2 |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000134160 |
CleanEx database of gene expression profiles More...CleanExi | HS_TRPM1 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q7Z4N2 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q7Z4N2 HS |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 1.20.5.1010, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR005821 Ion_trans_dom IPR029588 TRPM1 IPR032415 TRPM_tetra IPR037162 TRPM_tetra_sf |
The PANTHER Classification System More...PANTHERi | PTHR13800:SF13 PTHR13800:SF13, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF00520 Ion_trans, 1 hit PF16519 TRPM_tetra, 1 hit |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
| <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | TRPM1_HUMAN | |
| <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | Q7Z4N2Primary (citable) accession number: Q7Z4N2 Secondary accession number(s): D9IDV2 , D9IDV3, F8W865, H0YN37, O75560, Q6PE48, Q7Z4N1, Q7Z4N3, Q7Z4N4, Q7Z4N5 | |
| <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 8, 2008 |
| Last sequence update: | April 8, 2008 | |
| Last modified: | June 20, 2018 | |
| This is version 121 of the entry and version 2 of the sequence. See complete history. | ||
| <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families
