Q9HCF6 (TRPM3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 99.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Transient receptor potential cation channel subfamily M member 3 Alternative name(s): Long transient receptor potential channel 3 Short name=LTrpC-3 Short name=LTrpC3 Melastatin-2 Short name=MLSN2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1732 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Calcium channel mediating constitutive calcium ion entry. Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation. Ref.1 Ref.5 |
| Subcellular location | |
| Tissue specificity | Expressed primarily in the kidney and, at lower levels, in brain, testis, ovary, pancreas and spinal cord. Expression in the brain and kidney was determined at protein level. In the kidney, expressed predominantly in the collecting tubular epithelium in the medulla, medullary rays, and periglomerular regions; in the brain, highest levels are found in the cerebellum, choroid plexus, the locus coeruleus, the posterior thalamus and the substantia nigra. Down-regulated in renal tumors compared to normal kidney. Ref.1 Ref.5 |
| Sequence similarities | Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM3 sub-subfamily. [View classification] |
| Sequence caution | The sequence CAB66480.2 differs from that shown. Reason: Cloning artifact in C-terminus. The sequence CAM13096.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAM13169.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAM15782.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAM17596.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAM22746.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Calcium transport Ion transport Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Transmembrane Transmembrane helix |
| Ligand | Calcium |
| Molecular function | Calcium channel Ion channel |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular_function | calcium channel activity Inferred from electronic annotation. Source: UniProtKB-KW cation channel activityInferred from direct assay PubMed 15824111. Source: MGI |
| Complete GO annotation... | |
Alternative products
| This entry describes 11 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9HCF6-1) Also known as: TRPM3f; 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. | ||||||
| Isoform 2 (identifier: Q9HCF6-2) Also known as: TRPM3a; The sequence of this isoform differs from the canonical sequence as follows: 326-350: Missing. | ||||||
| Isoform 3 (identifier: Q9HCF6-3) Also known as: TRPM3b; The sequence of this isoform differs from the canonical sequence as follows: 326-350: Missing. 569-569: K → KREYPGFGWIYFK | ||||||
| Isoform 4 (identifier: Q9HCF6-4) Also known as: TRPM3d; The sequence of this isoform differs from the canonical sequence as follows: 326-350: Missing. 617-626: Missing. | ||||||
| Isoform 5 (identifier: Q9HCF6-5) Also known as: TRPM3e; The sequence of this isoform differs from the canonical sequence as follows: 326-350: Missing. 569-569: K → KREYPGFGWIYFK 617-626: Missing. | ||||||
| Isoform 6 (identifier: Q9HCF6-6) Also known as: TRPM3c; The sequence of this isoform differs from the canonical sequence as follows: 326-350: Missing. 1088-1088: P → RKQVYDSHTPKSA | ||||||
| Isoform 7 (identifier: Q9HCF6-7) The sequence of this isoform differs from the canonical sequence as follows: 617-626: Missing. | ||||||
| Isoform 8 (identifier: Q9HCF6-8) The sequence of this isoform differs from the canonical sequence as follows: 326-350: Missing. 535-552: Missing. 617-626: Missing. | ||||||
| Isoform 10 (identifier: Q9HCF6-10) The sequence of this isoform differs from the canonical sequence as follows: 326-350: Missing. 1344-1350: GEETMSP → EHPLYSV 1351-1732: Missing. | ||||||
| Isoform 11 (identifier: Q9HCF6-11) The sequence of this isoform differs from the canonical sequence as follows: 1-59: MPEPWGTVYF...AFLPSVRLLK → MGKKWRDAAE...RSGLPSQQTP | ||||||
| Isoform 12 (identifier: Q9HCF6-12) The sequence of this isoform differs from the canonical sequence as follows: 1-153: Missing. 326-350: Missing. 409-1732: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1732 | 1732 | Transient receptor potential cation channel subfamily M member 3 | PRO_0000215328 | |||||
Regions | |||||||||
| Transmembrane | 4 – 24 | 21 | Helical; Potential | ||||||
| Topological domain | 25 – 794 | 770 | Cytoplasmic Potential | ||||||
| Transmembrane | 795 – 815 | 21 | Helical; Potential | ||||||
| Topological domain | 816 – 897 | 82 | Extracellular Potential | ||||||
| Transmembrane | 898 – 918 | 21 | Helical; Potential | ||||||
| Topological domain | 919 – 964 | 46 | Cytoplasmic Potential | ||||||
| Transmembrane | 965 – 985 | 21 | Helical; Potential | ||||||
| Topological domain | 986 – 995 | 10 | Extracellular Potential | ||||||
| Transmembrane | 996 – 1016 | 21 | Helical; Potential | ||||||
| Topological domain | 1017 – 1028 | 12 | Cytoplasmic Potential | ||||||
| Transmembrane | 1029 – 1049 | 21 | Helical; Potential | ||||||
| Topological domain | 1050 – 1116 | 67 | Extracellular Potential | ||||||
| Transmembrane | 1117 – 1137 | 21 | Helical; Potential | ||||||
| Topological domain | 1138 – 1732 | 595 | Cytoplasmic Potential | ||||||
| Coiled coil | 1241 – 1301 | 61 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 153 | 153 | Missing in isoform 12. | VSP_043515 | |||||
| Alternative sequence | 1 – 59 | 59 | MPEPW…VRLLK → MGKKWRDAAEMERGCSDRED NAESRRRSRSASRGRFAESW KRLSSKQGSTKRSGLPSQQT P in isoform 11. | VSP_039107 | |||||
| Alternative sequence | 326 – 350 | 25 | Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6, isoform 8, isoform 10 and isoform 12. | VSP_012826 | |||||
| Alternative sequence | 409 – 1732 | 1324 | Missing in isoform 12. | VSP_043516 | |||||
| Alternative sequence | 535 – 552 | 18 | Missing in isoform 8. | VSP_012827 | |||||
| Alternative sequence | 569 | 1 | K → KREYPGFGWIYFK in isoform 3 and isoform 5. | VSP_012828 | |||||
| Alternative sequence | 617 – 626 | 10 | Missing in isoform 4, isoform 5, isoform 7 and isoform 8. | VSP_012829 | |||||
| Alternative sequence | 1088 | 1 | P → RKQVYDSHTPKSA in isoform 6. | VSP_012830 | |||||
| Alternative sequence | 1344 – 1350 | 7 | GEETMSP → EHPLYSV in isoform 10. | VSP_012831 | |||||
| Alternative sequence | 1351 – 1732 | 382 | Missing in isoform 10. | VSP_012832 | |||||
| Natural variant | 1653 | 1 | T → I. Corresponds to variant rs13440436 [ dbSNP | Ensembl ]. | VAR_057305 | |||||
| Natural variant | 1695 | 1 | R → Q. Corresponds to variant rs6560142 [ dbSNP | Ensembl ]. | VAR_021257 | |||||
| Natural variant | 1717 | 1 | R → K. Ref.7 Corresponds to variant rs41287373 [ dbSNP | Ensembl ]. | VAR_061862 | |||||
| Natural variant | 1732 | 1 | N → T. Ref.5 Ref.6 Ref.7 Corresponds to variant rs17535963 [ dbSNP | Ensembl ]. | VAR_057306 | |||||
Experimental info | |||||||||
| Sequence conflict | 335 | 1 | R → H in BAC55103. Ref.6 | ||||||
| Sequence conflict | 695 | 1 | C → Y in BAC55106. Ref.6 | ||||||
| Sequence conflict | 1032 | 1 | D → E in BAC55106. Ref.6 | ||||||
| Sequence conflict | 1730 | 1 | K → Q in BAC55104. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular and functional characterization of the melastatin-related cation channel TRPM3." Grimm C., Kraft R., Sauerbruch S., Schultz G., Harteneck C. J. Biol. Chem. 278:21493-21501(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 10), FUNCTION, TISSUE SPECIFICITY. Tissue: Fetal brain. |
| [2] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 12). |
| [4] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-324 (ISOFORM 11). Tissue: Amygdala. |
| [5] | "Expression and characterization of human transient receptor potential melastatin 3 (hTRPM3)." Lee N., Chen J., Sun L., Wu S., Gray K.R., Rich A., Huang M., Lin J.-H., Feder J.N., Janovitz E.B., Levesque P.C., Blanar M.A. J. Biol. Chem. 278:20890-20897(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 154-1732 (ISOFORMS 1; 2; 3; 4; 5 AND 6), VARIANT THR-1732, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [6] | "ProX human full-length cDNA cloning project." Okabayashi K., Hirano K., Sano M., Murahashi Y., Miyauchi A., Gonoi T. Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 154-1732 (ISOFORMS 1; 2; 4; 7 AND 8), VARIANT THR-1732. Tissue: Brain. |
| [7] | "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 716-1732 (ISOFORMS 1/2/3/4/5/7/8), VARIANTS LYS-1717 AND THR-1732. Tissue: Brain. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ505025 mRNA. Translation: CAD43604.1. AJ505026 mRNA. Translation: CAD43605.1. AL159990, AL356318 Genomic DNA. Translation: CAI12193.1. AL356318, AL159990 Genomic DNA. Translation: CAI96096.1. AL159990 AL442645 Genomic DNA. Translation: CAM13096.1. Sequence problems.AL356318 AL442645 Genomic DNA. Translation: CAM13169.1. Sequence problems.AL358786 AL442645 Genomic DNA. Translation: CAM15782.1. Sequence problems.AL442645 AL358786 Genomic DNA. Translation: CAM17596.1. Sequence problems.AL161913 AL442645 Genomic DNA. Translation: CAM22746.1. Sequence problems.AL160273 Genomic DNA. No translation available. AL391819 Genomic DNA. No translation available. AL592438 Genomic DNA. No translation available. BC121821 mRNA. Translation: AAI21822.2. BC134414 mRNA. Translation: AAI34415.1. BC142972 mRNA. Translation: AAI42973.1. AL136545 mRNA. Translation: CAB66480.2. Sequence problems. AF536748 mRNA. Translation: AAO49153.1. AF536749 mRNA. Translation: AAO49154.1. AF536750 mRNA. Translation: AAO49155.1. AF536751 mRNA. Translation: AAO49156.1. AF536752 mRNA. Translation: AAO49157.1. AF536753 mRNA. Translation: AAO49158.1. AB099661 mRNA. Translation: BAC55102.1. AB099662 mRNA. Translation: BAC55103.1. AB099663 mRNA. Translation: BAC55104.1. AB099664 mRNA. Translation: BAC55105.1. AB099665 mRNA. Translation: BAC55106.1. AB046836 mRNA. Translation: BAB13442.1. |
| IPI | IPI00328399. IPI00410153. IPI00410304. IPI00410306. IPI00479292. IPI00552215. IPI00552239. IPI00552380. IPI00553010. IPI00654589. IPI00964809. |
| RefSeq | NP_001007472.2. NM_001007471.2. NP_996831.1. NM_206948.2. |
| UniGene | Hs.47288. |
3D structure databases | |
| ModBase | Search... |
Protein family/group databases | |
| TCDB | 1.A.4.5.6. transient receptor potential Ca2+ channel (TRP-CC) family. |
PTM databases | |
| PhosphoSite | Q9HCF6. |
Polymorphism databases | |
| DMDM | 212276493. |
Proteomic databases | |
| PaxDb | Q9HCF6. |
| PRIDE | Q9HCF6. |
Protocols and materials databases | |
| DNASU | 80036. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000361823; ENSP00000355395; ENSG00000083067. ENST00000377110; ENSP00000366314; ENSG00000083067. ENST00000377111; ENSP00000366315; ENSG00000083067. ENST00000423814; ENSP00000389542; ENSG00000083067. |
| GeneID | 80036. |
| KEGG | hsa:80036. |
| UCSC | uc004ahv.3. human. uc004ahw.3. human. uc004ahx.3. human. uc004ahz.3. human. uc004aia.3. human. uc004aib.3. human. uc004aic.3. human. |
Organism-specific databases | |
| CTD | 80036. |
| GeneCards | GC09M073149. |
| HGNC | HGNC:17992. TRPM3. |
| MIM | 608961. gene. |
| neXtProt | NX_Q9HCF6. |
| PharmGKB | PA38271. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG253824. |
| HOGENOM | HOG000230920. |
| HOVERGEN | HBG058254. |
| InParanoid | Q9HCF6. |
| KO | K04978. |
| OMA | YIVRQSS. |
Gene expression databases | |
| ArrayExpress | Q9HCF6. |
| Bgee | Q9HCF6. |
| Genevestigator | Q9HCF6. |
| GermOnline | ENSG00000083067. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR005821. Ion_trans_dom. [Graphical view] |
| Pfam | PF00520. Ion_trans. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | TRPM3. human. |
| GenomeRNAi | 80036. |
| NextBio | 70216. |
| SOURCE | Search... |
Entry information
| Entry name | TRPM3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HCF6 Secondary accession number(s): A2A3F6 Q9H0X2 | ||||||||
| Entry history |
| ||||||||
| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: 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 |

Clusters with
