Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q7Z4N2 (TRPM1_HUMAN)

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>

<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>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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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 functionIon channel, Ligand-gated ion channel, Receptor
Biological processIon 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 1
Alternative 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
Synonyms:LTRPC1, MLSN1 Publication, MLSN1Imported
<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>OrganismiHomo 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 identifieri9606 [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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 domaini1 – 524ExtracellularSequence analysisAdd BLAST524
<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>Transmembranei525 – 545HelicalSequence analysisAdd BLAST21
Topological domaini546 – 745CytoplasmicSequence analysisAdd BLAST200
Transmembranei746 – 766HelicalSequence analysisAdd BLAST21
Topological domaini767 – 830ExtracellularSequence analysisAdd BLAST64
Transmembranei831 – 851HelicalSequence analysisAdd BLAST21
Topological domaini852CytoplasmicSequence analysis1
Transmembranei853 – 873HelicalSequence analysisAdd BLAST21
Topological domaini874 – 897ExtracellularSequence analysisAdd BLAST24
Transmembranei898 – 918HelicalSequence analysisAdd BLAST21
Topological domaini919 – 928CytoplasmicSequence analysis10
Transmembranei929 – 949HelicalSequence analysisAdd BLAST21
Topological domaini950 – 961ExtracellularSequence analysisAdd BLAST12
Transmembranei962 – 982HelicalSequence analysisAdd BLAST21
Topological domaini983 – 1054CytoplasmicSequence analysisAdd BLAST72
Transmembranei1055 – 1075HelicalSequence analysisAdd BLAST21
Topological domaini1076 – 1105ExtracellularSequence analysisAdd BLAST30
Transmembranei1106 – 1126HelicalSequence analysisAdd BLAST21
Topological domaini1127 – 1603CytoplasmicSequence analysisAdd BLAST477

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
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 keyPosition(s)DescriptionActionsGraphical viewLength
<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_06317456Y → C in CSNB1C. 1 Publication1
Natural variantiVAR_06317572Y → C in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs200514769Ensembl.1
Natural variantiVAR_06317674R → C in CSNB1C. 2 PublicationsCorresponds to variant dbSNP:rs774365264Ensembl.1
Natural variantiVAR_06317799L → P in CSNB1C. 2 PublicationsCorresponds to variant dbSNP:rs191205969EnsemblClinVar.1
Natural variantiVAR_063178364L → R in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs372608320Ensembl.1
Natural variantiVAR_063180473R → P in CSNB1C. 1 Publication1
Natural variantiVAR_063181534G → R in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs748043795Ensembl.1
Natural variantiVAR_063182541M → K in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs1261040173Ensembl.1
Natural variantiVAR_063183611P → H in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs267607139EnsemblClinVar.1
Natural variantiVAR_063184721R → Q in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs781460164EnsemblClinVar.1
Natural variantiVAR_063185883E → G in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs574652148Ensembl.1
Natural variantiVAR_0631871002I → F in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs369484186EnsemblClinVar.1

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		4308

MalaCards human disease database

More...MalaCardsi		TRPM1
MIMi613216 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 keyPosition(s)DescriptionActionsGraphical viewLength
<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_00003289301 – 1603Transient receptor potential cation channel subfamily M member 1Add BLAST1603

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7Z4N2

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>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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000134160 Expressed in 75 organ(s), highest expression level in pigmented layer of retina

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 keyPosition(s)DescriptionActionsGraphical viewLength
<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 coili1179 – 1240Sequence analysisAdd BLAST62

<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

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3614 Eukaryota
ENOG410XR5B LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155024

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		LYKSMAH

Database of Orthologous Groups

More...OrthoDBi		738147at2759

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 basket

This entry has 7 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q7Z4N2-1) [UniParc]FASTAAdd to basket

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.

« Hide
        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
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
GO
Isoform 22 Publications (identifier: Q7Z4N2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.

Show »
Length:1,533
Mass (Da):174,418
Checksum:iD824DC467BC1A70F
GO
Isoform 31 Publication (identifier: Q7Z4N2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     295-300: Missing.

Show »
Length:1,597
Mass (Da):181,540
Checksum:i44A93B1C9CF533C7
GO
Isoform 41 Publication (identifier: Q7Z4N2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     301-1603: Missing.

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
Checksum:iEA1EE23D05248823
GO
Isoform 5 (identifier: Q7Z4N2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSSFKRGSLKSSTSGSQKGQKSWIEKTFCKRECIFVIPSM

Show »
Length:1,642
Mass (Da):186,545
Checksum:i8FCF58496AF8504D
GO
Isoform 6 (identifier: Q7Z4N2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGQKSWIEKTFCKRECIFVIPSM

Show »
Length:1,625
Mass (Da):184,792
Checksum:i242329CE4A78C0F6
GO
Isoform 7 (identifier: Q7Z4N2-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     72-136: YIRVSYDTKP...AAMTTGAWIF → VRKAFRHGAT...AMRLGNWTPL
     137-1603: Missing.

Show »
Length:136
Mass (Da):15,099
Checksum:iEAA6CA0DA32B87D7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YM61H0YM61_HUMAN
Transient receptor potential cation...
TRPM1
505Annotation score:

Annotation score:2 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>
H0YKU7H0YKU7_HUMAN
Transient receptor potential cation...
TRPM1
1,390Annotation score:

Annotation score:2 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>
A0A0A0MTQ9A0A0A0MTQ9_HUMAN
Transient receptor potential cation...
TRPM1
1,526Annotation score:

Annotation score:2 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>
A0A0G2JMR4A0A0G2JMR4_HUMAN
Transient receptor potential cation...
TRPM1
1,625Annotation score:

Annotation score:2 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>
A0A0G2JMJ5A0A0G2JMJ5_HUMAN
Transient receptor potential cation...
TRPM1
1,603Annotation score:

Annotation score:2 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>
A0A0G2JPN6A0A0G2JPN6_HUMAN
Transient receptor potential cation...
TRPM1
1,603Annotation score:

Annotation score:2 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>
A0A0G2JN34A0A0G2JN34_HUMAN
Transient receptor potential cation...
TRPM1
1,642Annotation score:

Annotation score:1 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>
A0A0A0MTR0A0A0A0MTR0_HUMAN
Transient receptor potential cation...
TRPM1
229Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 conflicti1M → T in ADJ52077 (PubMed:19436059).Curated1
Sequence conflicti369V → L in BAC80200 (Ref. 3) Curated1
Sequence conflicti1195R → G in BAC80201 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0631736R → W2 Publications1
Natural variantiVAR_05237032S → N3 PublicationsCorresponds to variant dbSNP:rs2241493EnsemblClinVar.1
Natural variantiVAR_06317456Y → C in CSNB1C. 1 Publication1
Natural variantiVAR_06317572Y → C in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs200514769Ensembl.1
Natural variantiVAR_06317674R → C in CSNB1C. 2 PublicationsCorresponds to variant dbSNP:rs774365264Ensembl.1
Natural variantiVAR_06317799L → P in CSNB1C. 2 PublicationsCorresponds to variant dbSNP:rs191205969EnsemblClinVar.1
Natural variantiVAR_063178364L → R in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs372608320Ensembl.1
Natural variantiVAR_063179399P → T2 PublicationsCorresponds to variant dbSNP:rs141540242Ensembl.1
Natural variantiVAR_063180473R → P in CSNB1C. 1 Publication1
Natural variantiVAR_063181534G → R in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs748043795Ensembl.1
Natural variantiVAR_063182541M → K in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs1261040173Ensembl.1
Natural variantiVAR_052371605V → M2 PublicationsCorresponds to variant dbSNP:rs17815774EnsemblClinVar.1
Natural variantiVAR_063183611P → H in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs267607139EnsemblClinVar.1
Natural variantiVAR_063184721R → Q in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs781460164EnsemblClinVar.1
Natural variantiVAR_063185883E → G in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs574652148Ensembl.1
Natural variantiVAR_063186962M → T in a patient with night blindness started in the third decade; associated in cis with G-1438. 1 Publication1
Natural variantiVAR_0631871002I → F in CSNB1C. 1 PublicationCorresponds to variant dbSNP:rs369484186EnsemblClinVar.1
Natural variantiVAR_0631881161Q → H1 PublicationCorresponds to variant dbSNP:rs182549235EnsemblClinVar.1
Natural variantiVAR_0523721229N → T1 PublicationCorresponds to variant dbSNP:rs17227996EnsemblClinVar.1
Natural variantiVAR_0523731305R → H. Corresponds to variant dbSNP:rs13380059Ensembl.1
Natural variantiVAR_0631891379P → T1 PublicationCorresponds to variant dbSNP:rs61734298EnsemblClinVar.1
Natural variantiVAR_0523741395V → I2 PublicationsCorresponds to variant dbSNP:rs3784588EnsemblClinVar.1
Natural variantiVAR_0523751422R → G. Corresponds to variant dbSNP:rs3784587Ensembl.1
Natural variantiVAR_0631901422R → W1 Publication1
Natural variantiVAR_0631911438R → G in a patient with night blindness started in the third decade; associated in cis with T-962. 1 Publication1
Natural variantiVAR_0523761498H → Q2 PublicationsCorresponds to variant dbSNP:rs12898290EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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_0527481 – 70Missing in isoform 2. 2 PublicationsAdd BLAST70
Alternative sequenceiVSP_0467861M → MSSFKRGSLKSSTSGSQKGQ KSWIEKTFCKRECIFVIPSM in isoform 5. 1 Publication1
Alternative sequenceiVSP_0467871M → MGQKSWIEKTFCKRECIFVI PSM in isoform 6. 1 Publication1
Alternative sequenceiVSP_04678872 – 136YIRVS…GAWIF → VRKAFRHGATRITAFIGGQS PSPKLQIPGLLHGCGSIFLD ISLKNQEIYLCTWLLAMRLG NWTPL in isoform 7. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_046789137 – 1603Missing in isoform 7. 1 PublicationAdd BLAST1467
Alternative sequenceiVSP_052749295 – 300Missing in isoform 3. 1 Publication6
Alternative sequenceiVSP_052750301 – 1603Missing in isoform 4. 1 PublicationAdd BLAST1303

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links 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]

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

<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:
EMBLi
GenBanki
DDBJi
Links 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
CCDSiCCDS10024.2 [Q7Z4N2-1]
CCDS58345.1 [Q7Z4N2-7]
CCDS58346.1 [Q7Z4N2-6]
CCDS58347.1 [Q7Z4N2-5]
RefSeqiNP_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]
UniGeneiHs.155942
Hs.732541

3D structure databases

ProteinModelPortaliQ7Z4N2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110453, 4 interactors
IntActiQ7Z4N2, 2 interactors
STRINGi9606.ENSP00000380897

Chemistry databases

GuidetoPHARMACOLOGYi493

Protein family/group databases

TCDBi1.A.4.5.2 the transient receptor potential ca(2+) channel (trp-cc) family

PTM databases

iPTMnetiQ7Z4N2
PhosphoSitePlusiQ7Z4N2

Polymorphism and mutation databases

BioMutaiTRPM1
DMDMi182701419

Proteomic databases

jPOSTiQ7Z4N2
MaxQBiQ7Z4N2
PaxDbiQ7Z4N2
PeptideAtlasiQ7Z4N2
PRIDEiQ7Z4N2
ProteomicsDBi69213
69214 [Q7Z4N2-2]
69215 [Q7Z4N2-3]
69216 [Q7Z4N2-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256552; ENSP00000256552; ENSG00000134160 [Q7Z4N2-6]
ENST00000397795; ENSP00000380897; ENSG00000134160 [Q7Z4N2-1]
ENST00000542188; ENSP00000437849; ENSG00000134160 [Q7Z4N2-5]
ENST00000559179; ENSP00000453851; ENSG00000134160 [Q7Z4N2-7]
ENST00000560658; ENSP00000454077; ENSG00000134160 [Q7Z4N2-4]
GeneIDi4308
KEGGihsa:4308
UCSCiuc001zfm.4 human [Q7Z4N2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4308
DisGeNETi4308
EuPathDBiHostDB:ENSG00000134160.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		TRPM1

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0038069
HGNCiHGNC:7146 TRPM1
HPAiHPA014779
HPA014785
MalaCardsiTRPM1
MIMi603576 gene
613216 phenotype
neXtProtiNX_Q7Z4N2
OpenTargetsiENSG00000134160
Orphaneti215 Congenital stationary night blindness
PharmGKBiPA35496

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3614 Eukaryota
ENOG410XR5B LUCA
GeneTreeiENSGT00940000155024
HOGENOMiHOG000230920
HOVERGENiHBG055663
InParanoidiQ7Z4N2
KOiK04976
OMAiLYKSMAH
OrthoDBi738147at2759
PhylomeDBiQ7Z4N2
TreeFamiTF314204

Enzyme and pathway databases

ReactomeiR-HSA-3295583 TRP channels
SIGNORiQ7Z4N2

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

BgeeiENSG00000134160 Expressed in 75 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_TRPM1
ExpressionAtlasiQ7Z4N2 baseline and differential
GenevisibleiQ7Z4N2 HS

Family and domain databases

Gene3Di1.20.5.1010, 1 hit
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR029588 TRPM1
IPR032415 TRPM_tetra
IPR037162 TRPM_tetra_sf
PANTHERiPTHR13800:SF13 PTHR13800:SF13, 1 hit
PfamiView 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 nameiTRPM1_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>AccessioniPrimary (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 historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: January 16, 2019
This is version 126 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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again