TRPM1_HUMAN
ID TRPM1_HUMAN Reviewed; 1603 AA.
AC Q7Z4N2; D9IDV2; D9IDV3; F8W865; H0YN37; O75560; Q6PE48; Q7Z4N1; Q7Z4N3;
AC Q7Z4N4; Q7Z4N5;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Transient receptor potential cation channel subfamily M member 1;
DE AltName: Full=Long transient receptor potential channel 1;
DE Short=LTrpC1;
DE AltName: Full=Melastatin-1;
GN Name=TRPM1 {ECO:0000312|HGNC:HGNC:7146};
GN Synonyms=LTRPC1, MLSN {ECO:0000303|PubMed:11535825},
GN MLSN1 {ECO:0000312|EMBL:BAC80203.1};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1] {ECO:0000305, ECO:0000312|EMBL:AAC80000.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS THR-399 AND GLN-1498.
RC TISSUE=Retina {ECO:0000312|EMBL:AAC80000.1};
RX PubMed=9806836; DOI=10.1006/geno.1998.5549;
RA Hunter J.J., Shao J., Smutko J.S., Dussault B.J., Nagle D.L., Woolf E.A.,
RA Holmgren L.M., Moore K.J., Shyjan A.W.;
RT "Chromosomal localization and genomic characterization of the mouse
RT melastatin gene (Mlsn1).";
RL Genomics 54:116-123(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 6).
RX PubMed=19436059; DOI=10.1126/scisignal.2000146;
RA Oancea E., Vriens J., Brauchi S., Jun J., Splawski I., Clapham D.E.;
RT "TRPM1 forms ion channels associated with melanin content in melanocytes.";
RL Sci. Signal. 2:RA21-RA21(2009).
RN [3] {ECO:0000305, ECO:0000312|EMBL:BAC80203.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
RC TISSUE=Melanoma {ECO:0000312|EMBL:BAC80203.1};
RA Sano M., Okabayashi K., Miyauchi A., Gonoi T.;
RT "ProX human full-length cDNA cloning project.";
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [4] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [5] {ECO:0000305, ECO:0000312|EMBL:BAC80203.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7), AND VARIANT ASN-32.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7] {ECO:0000305}
RP TISSUE SPECIFICITY.
RX PubMed=9537257;
RA Duncan L.M., Deeds J., Hunter J., Shao J., Holmgren L.M., Woolf E.A.,
RA Tepper R.I., Shyjan A.W.;
RT "Down-regulation of the novel gene melastatin correlates with potential for
RT melanoma metastasis.";
RL Cancer Res. 58:1515-1520(1998).
RN [8] {ECO:0000305}
RP TISSUE SPECIFICITY, AND INDUCTION.
RX PubMed=11112417; DOI=10.1006/bbrc.2000.3894;
RA Fang D., Setaluri V.;
RT "Expression and up-regulation of alternatively spliced transcripts of
RT melastatin, a melanoma metastasis-related gene, in human melanoma cells.";
RL Biochem. Biophys. Res. Commun. 279:53-61(2000).
RN [9] {ECO:0000305}
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=11535825; DOI=10.1073/pnas.191360198;
RA Xu X.-Z.S., Moebius F., Gill D.L., Montell C.;
RT "Regulation of melastatin, a TRP-related protein, through interaction with
RT a cytoplasmic isoform.";
RL Proc. Natl. Acad. Sci. U.S.A. 98:10692-10697(2001).
RN [10]
RP FUNCTION, ACTIVITY REGULATION, IDENTIFICATION IN COMPLEX WITH TRPM3,
RP SUBCELLULAR LOCATION, AND MUTAGENESIS OF HIS-989 AND 1021-LEU--ASN-1027.
RX PubMed=21278253; DOI=10.1074/jbc.m110.202945;
RA Lambert S., Drews A., Rizun O., Wagner T.F., Lis A., Mannebach S.,
RA Plant S., Portz M., Meissner M., Philipp S.E., Oberwinkler J.;
RT "Transient receptor potential melastatin 1 (TRPM1) is an ion-conducting
RT plasma membrane channel inhibited by zinc ions.";
RL J. Biol. Chem. 286:12221-12233(2011).
RN [11]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND TOPOLOGY.
RX PubMed=30027108; DOI=10.1523/eneuro.0143-18.2018;
RA Agosto M.A., Anastassov I.A., Robichaux M.A., Wensel T.G.;
RT "A Large Endoplasmic Reticulum-Resident Pool of TRPM1 in Retinal ON-Bipolar
RT Cells.";
RL ENeuro 5:0-0(2018).
RN [12]
RP FUNCTION, VARIANTS CSNB1C CYS-56; CYS-74; GLN-721; GLY-883 AND PHE-1002,
RP AND VARIANTS TRP-6; ASN-32; MET-605; THR-962; ILE-1395 AND GLY-1438.
RX PubMed=19878917; DOI=10.1016/j.ajhg.2009.10.003;
RA Li Z., Sergouniotis P.I., Michaelides M., Mackay D.S., Wright G.A.,
RA Devery S., Moore A.T., Holder G.E., Robson A.G., Webster A.R.;
RT "Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function
RT and cause complete congenital stationary night blindness in humans.";
RL Am. J. Hum. Genet. 85:711-719(2009).
RN [13]
RP FUNCTION, TISSUE SPECIFICITY, AND VARIANTS CSNB1C CYS-74; PRO-99; ARG-364;
RP ARG-534 AND HIS-611.
RX PubMed=19896109; DOI=10.1016/j.ajhg.2009.10.012;
RA van Genderen M.M., Bijveld M.M., Claassen Y.B., Florijn R.J.,
RA Pearring J.N., Meire F.M., McCall M.A., Riemslag F.C., Gregg R.G.,
RA Bergen A.A., Kamermans M.;
RT "Mutations in TRPM1 are a common cause of complete congenital stationary
RT night blindness.";
RL Am. J. Hum. Genet. 85:730-736(2009).
RN [14]
RP VARIANTS CSNB1C CYS-72; PRO-99; PRO-473 AND LYS-541, AND VARIANTS TRP-6;
RP ASN-32; THR-399; MET-605; HIS-1161; THR-1229; THR-1379; ILE-1395; TRP-1422
RP AND GLN-1498.
RX PubMed=19896113; DOI=10.1016/j.ajhg.2009.10.013;
RA Audo I., Kohl S., Leroy B.P., Munier F.L., Guillonneau X., Mohand-Said S.,
RA Bujakowska K., Nandrot E.F., Lorenz B., Preising M., Kellner U.,
RA Renner A.B., Bernd A., Antonio A., Moskova-Doumanova V., Lancelot M.E.,
RA Poloschek C.M., Drumare I., Defoort-Dhellemmes S., Wissinger B.,
RA Leveillard T., Hamel C.P., Schorderet D.F., De Baere E., Berger W.,
RA Jacobson S.G., Zrenner E., Sahel J.A., Bhattacharya S.S., Zeitz C.;
RT "TRPM1 is mutated in patients with autosomal-recessive complete congenital
RT stationary night blindness.";
RL Am. J. Hum. Genet. 85:720-729(2009).
CC -!- FUNCTION: Forms nonselective divalent cation-conducting channels which
CC mediate the influx of Na(2+), Ca(2+), Mg(2+), Mn(2+), Ba(2+), and
CC Ni(2+) into the cytoplasm, leading to membrane depolarization
CC (PubMed:19436059, PubMed:21278253). Impermeable to zinc ions
CC (PubMed:21278253). In addition, forms heteromultimeric ion channels
CC with TRPM3 which are permeable for calcium and zinc ions
CC (PubMed:21278253). Essential for the depolarizing photoresponse of
CC retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May
CC play a role in metastasis suppression (By similarity). May act as a
CC spontaneously active, calcium-permeable plasma membrane channel.
CC {ECO:0000250, ECO:0000269|PubMed:11535825, ECO:0000269|PubMed:19436059,
CC ECO:0000269|PubMed:19878917, ECO:0000269|PubMed:19896109,
CC ECO:0000269|PubMed:21278253}.
CC -!- ACTIVITY REGULATION: Inhibited by zinc ions.
CC {ECO:0000269|PubMed:21278253}.
CC -!- SUBUNIT: Interacts with TRPM3; the interaction results in the formation
CC of a heteromultimeric cation channel complex.
CC {ECO:0000269|PubMed:21278253}.
CC -!- INTERACTION:
CC Q7Z4N2-7; P51114-2: FXR1; NbExp=3; IntAct=EBI-12371223, EBI-11022345;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21278253};
CC Multi-pass membrane protein {ECO:0000255, ECO:0000269|PubMed:11535825}.
CC Endoplasmic reticulum membrane {ECO:0000269|PubMed:30027108}; Multi-
CC pass membrane protein {ECO:0000269|PubMed:30027108}. Cell projection,
CC axon {ECO:0000250|UniProtKB:Q2TV84}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=1 {ECO:0000269|PubMed:16572171};
CC IsoId=Q7Z4N2-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:9806836, ECO:0000269|Ref.3};
CC IsoId=Q7Z4N2-2; Sequence=VSP_052748;
CC Name=3 {ECO:0000269|Ref.3};
CC IsoId=Q7Z4N2-3; Sequence=VSP_052749;
CC Name=4 {ECO:0000269|Ref.3};
CC IsoId=Q7Z4N2-4; Sequence=VSP_052750;
CC Name=5;
CC IsoId=Q7Z4N2-5; Sequence=VSP_046786;
CC Name=6;
CC IsoId=Q7Z4N2-6; Sequence=VSP_046787;
CC Name=7;
CC IsoId=Q7Z4N2-7; Sequence=VSP_046788, VSP_046789;
CC -!- TISSUE SPECIFICITY: Expressed in the retina where it localizes to the
CC outer plexiform layer. Specifically, it is expressed in retinal bipolar
CC cells (BPCs) of the ON subtype (PubMed:30027108). Highly expressed in
CC benign melanocytic nevi and diffusely expressed in various in situ
CC melanomas, but not detected in melanoma metastases. Also expressed in
CC melanocytes and pigmented metastatic melanoma cell lines. In
CC melanocytes expression appears to be regulated at the level of
CC transcription and mRNA processing. {ECO:0000269|PubMed:11112417,
CC ECO:0000269|PubMed:19896109, ECO:0000269|PubMed:30027108,
CC ECO:0000269|PubMed:9537257}.
CC -!- INDUCTION: Up-regulated by hexamethylene bisacetamide (HBMA).
CC {ECO:0000269|PubMed:11112417}.
CC -!- DISEASE: Night blindness, congenital stationary, 1C (CSNB1C)
CC [MIM:613216]: A non-progressive retinal disorder characterized by
CC impaired night vision, often associated with nystagmus and myopia.
CC {ECO:0000269|PubMed:19878917, ECO:0000269|PubMed:19896109,
CC ECO:0000269|PubMed:19896113}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 4]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the transient receptor (TC 1.A.4) family. LTrpC
CC subfamily. TRPM1 sub-subfamily. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/TRPM1ID42707ch15q13.html";
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF071787; AAC80000.1; -; mRNA.
DR EMBL; HM135790; ADJ52077.1; -; mRNA.
DR EMBL; HM135791; ADJ52078.1; -; mRNA.
DR EMBL; AB115498; BAC80200.1; -; mRNA.
DR EMBL; AB115499; BAC80201.1; -; mRNA.
DR EMBL; AB115500; BAC80202.1; -; mRNA.
DR EMBL; AB115501; BAC80203.1; -; mRNA.
DR EMBL; AB115502; BAC80204.1; -; mRNA.
DR EMBL; AC009562; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090829; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471216; EAW61261.1; -; Genomic_DNA.
DR EMBL; BC058286; AAH58286.1; -; mRNA.
DR CCDS; CCDS10024.2; -. [Q7Z4N2-1]
DR CCDS; CCDS58345.1; -. [Q7Z4N2-7]
DR CCDS; CCDS58346.1; -. [Q7Z4N2-6]
DR CCDS; CCDS58347.1; -. [Q7Z4N2-5]
DR RefSeq; NP_001238949.1; NM_001252020.1. [Q7Z4N2-5]
DR RefSeq; NP_001238953.1; NM_001252024.1. [Q7Z4N2-6]
DR RefSeq; NP_001238959.1; NM_001252030.1. [Q7Z4N2-7]
DR RefSeq; NP_002411.3; NM_002420.5. [Q7Z4N2-1]
DR AlphaFoldDB; Q7Z4N2; -.
DR SMR; Q7Z4N2; -.
DR BioGRID; 110453; 8.
DR IntAct; Q7Z4N2; 4.
DR STRING; 9606.ENSP00000437849; -.
DR GuidetoPHARMACOLOGY; 493; -.
DR TCDB; 1.A.4.5.2; the transient receptor potential ca(2+) channel (trp-cc) family.
DR GlyGen; Q7Z4N2; 1 site.
DR iPTMnet; Q7Z4N2; -.
DR PhosphoSitePlus; Q7Z4N2; -.
DR BioMuta; TRPM1; -.
DR DMDM; 182701419; -.
DR jPOST; Q7Z4N2; -.
DR MassIVE; Q7Z4N2; -.
DR MaxQB; Q7Z4N2; -.
DR PaxDb; Q7Z4N2; -.
DR PeptideAtlas; Q7Z4N2; -.
DR PRIDE; Q7Z4N2; -.
DR ProteomicsDB; 15175; -.
DR ProteomicsDB; 30084; -.
DR ProteomicsDB; 40445; -.
DR ProteomicsDB; 69213; -. [Q7Z4N2-1]
DR ProteomicsDB; 69214; -. [Q7Z4N2-2]
DR ProteomicsDB; 69215; -. [Q7Z4N2-3]
DR ProteomicsDB; 69216; -. [Q7Z4N2-4]
DR Antibodypedia; 9410; 82 antibodies from 22 providers.
DR DNASU; 4308; -.
DR Ensembl; ENST00000256552.11; ENSP00000256552.7; ENSG00000134160.15. [Q7Z4N2-6]
DR Ensembl; ENST00000397795.6; ENSP00000380897.2; ENSG00000134160.15. [Q7Z4N2-1]
DR Ensembl; ENST00000542188.5; ENSP00000437849.1; ENSG00000134160.15. [Q7Z4N2-5]
DR Ensembl; ENST00000559179.2; ENSP00000453851.1; ENSG00000134160.15. [Q7Z4N2-7]
DR Ensembl; ENST00000560658.5; ENSP00000454077.1; ENSG00000134160.15. [Q7Z4N2-4]
DR GeneID; 4308; -.
DR KEGG; hsa:4308; -.
DR MANE-Select; ENST00000256552.11; ENSP00000256552.7; NM_001252024.2; NP_001238953.1. [Q7Z4N2-6]
DR UCSC; uc001zfm.4; human. [Q7Z4N2-1]
DR CTD; 4308; -.
DR DisGeNET; 4308; -.
DR GeneCards; TRPM1; -.
DR HGNC; HGNC:7146; TRPM1.
DR HPA; ENSG00000134160; Group enriched (retina, skin).
DR MalaCards; TRPM1; -.
DR MIM; 603576; gene.
DR MIM; 613216; phenotype.
DR neXtProt; NX_Q7Z4N2; -.
DR OpenTargets; ENSG00000134160; -.
DR Orphanet; 215; Congenital stationary night blindness.
DR PharmGKB; PA35496; -.
DR VEuPathDB; HostDB:ENSG00000134160; -.
DR eggNOG; KOG3614; Eukaryota.
DR GeneTree; ENSGT00940000155024; -.
DR HOGENOM; CLU_046430_1_0_1; -.
DR InParanoid; Q7Z4N2; -.
DR OMA; WIERTFC; -.
DR OrthoDB; 738147at2759; -.
DR PhylomeDB; Q7Z4N2; -.
DR TreeFam; TF314204; -.
DR PathwayCommons; Q7Z4N2; -.
DR Reactome; R-HSA-3295583; TRP channels.
DR SignaLink; Q7Z4N2; -.
DR SIGNOR; Q7Z4N2; -.
DR BioGRID-ORCS; 4308; 11 hits in 1063 CRISPR screens.
DR ChiTaRS; TRPM1; human.
DR GeneWiki; TRPM1; -.
DR GenomeRNAi; 4308; -.
DR Pharos; Q7Z4N2; Tchem.
DR PRO; PR:Q7Z4N2; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q7Z4N2; protein.
DR Bgee; ENSG00000134160; Expressed in pigmented layer of retina and 97 other tissues.
DR ExpressionAtlas; Q7Z4N2; baseline and differential.
DR Genevisible; Q7Z4N2; HS.
DR GO; GO:0030424; C:axon; IEA:UniProtKB-SubCell.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0005262; F:calcium channel activity; IDA:UniProtKB.
DR GO; GO:0005261; F:cation channel activity; IBA:GO_Central.
DR GO; GO:0098703; P:calcium ion import across plasma membrane; IDA:UniProtKB.
DR GO; GO:0070588; P:calcium ion transmembrane transport; TAS:Reactome.
DR GO; GO:0060402; P:calcium ion transport into cytosol; IBA:GO_Central.
DR GO; GO:0098655; P:cation transmembrane transport; IBA:GO_Central.
DR GO; GO:0071482; P:cellular response to light stimulus; IMP:UniProtKB.
DR GO; GO:0007216; P:G protein-coupled glutamate receptor signaling pathway; IMP:UniProtKB.
DR GO; GO:0051262; P:protein tetramerization; IEA:InterPro.
DR GO; GO:0007601; P:visual perception; IMP:UniProtKB.
DR Gene3D; 1.20.5.1010; -; 1.
DR InterPro; IPR005821; Ion_trans_dom.
DR InterPro; IPR029588; TRPM1.
DR InterPro; IPR041491; TRPM_SLOG.
DR InterPro; IPR032415; TRPM_tetra.
DR InterPro; IPR037162; TRPM_tetra_sf.
DR PANTHER; PTHR13800:SF13; PTHR13800:SF13; 1.
DR Pfam; PF00520; Ion_trans; 1.
DR Pfam; PF18139; LSDAT_euk; 1.
DR Pfam; PF16519; TRPM_tetra; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Coiled coil;
KW Congenital stationary night blindness; Disease variant;
KW Endoplasmic reticulum; Glycoprotein; Ion channel; Ion transport;
KW Ligand-gated ion channel; Membrane; Receptor; Reference proteome;
KW Sensory transduction; Transmembrane; Transmembrane helix; Transport;
KW Vision.
FT CHAIN 1..1603
FT /note="Transient receptor potential cation channel
FT subfamily M member 1"
FT /id="PRO_0000328930"
FT TOPO_DOM 1..830
FT /note="Cytoplasmic"
FT /evidence="ECO:0000269|PubMed:30027108"
FT TRANSMEM 831..851
FT /note="Helical"
FT /evidence="ECO:0000269|PubMed:30027108"
FT TOPO_DOM 852..897
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 898..918
FT /note="Helical"
FT /evidence="ECO:0000269|PubMed:30027108"
FT TOPO_DOM 919..928
FT /note="Cytoplasmic"
FT /evidence="ECO:0000269|PubMed:30027108"
FT TRANSMEM 929..949
FT /note="Helical"
FT /evidence="ECO:0000269|PubMed:30027108"
FT TOPO_DOM 950..961
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 962..982
FT /note="Helical"
FT /evidence="ECO:0000269|PubMed:30027108"
FT TOPO_DOM 983..1054
FT /note="Cytoplasmic"
FT /evidence="ECO:0000269|PubMed:30027108"
FT TRANSMEM 1055..1075
FT /note="Helical"
FT /evidence="ECO:0000269|PubMed:30027108"
FT TOPO_DOM 1076..1105
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 1106..1126
FT /note="Helical"
FT /evidence="ECO:0000269|PubMed:30027108"
FT TOPO_DOM 1127..1603
FT /note="Cytoplasmic"
FT /evidence="ECO:0000269|PubMed:30027108"
FT REGION 16..47
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 403..445
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 573..596
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 777..810
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1352..1380
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1182..1240
FT /evidence="ECO:0000255"
FT COMPBIAS 1352..1379
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 1076
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00498"
FT VAR_SEQ 1..70
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9806836, ECO:0000303|Ref.3"
FT /id="VSP_052748"
FT VAR_SEQ 1
FT /note="M -> MSSFKRGSLKSSTSGSQKGQKSWIEKTFCKRECIFVIPSM (in
FT isoform 5)"
FT /evidence="ECO:0000303|PubMed:19436059"
FT /id="VSP_046786"
FT VAR_SEQ 1
FT /note="M -> MGQKSWIEKTFCKRECIFVIPSM (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:19436059"
FT /id="VSP_046787"
FT VAR_SEQ 72..136
FT /note="YIRVSYDTKPDSLLHLMVKDWQLELPKLLISVHGGLQNFEMQPKLKQVFGKG
FT LIKAAMTTGAWIF -> VRKAFRHGATRITAFIGGQSPSPKLQIPGLLHGCGSIFLDIS
FT LKNQEIYLCTWLLAMRLGNWTPL (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046788"
FT VAR_SEQ 137..1603
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046789"
FT VAR_SEQ 295..300
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_052749"
FT VAR_SEQ 301..1603
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_052750"
FT VARIANT 6
FT /note="R -> W"
FT /evidence="ECO:0000269|PubMed:19878917,
FT ECO:0000269|PubMed:19896113"
FT /id="VAR_063173"
FT VARIANT 32
FT /note="S -> N (in dbSNP:rs2241493)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:19878917, ECO:0000269|PubMed:19896113"
FT /id="VAR_052370"
FT VARIANT 56
FT /note="Y -> C (in CSNB1C)"
FT /evidence="ECO:0000269|PubMed:19878917"
FT /id="VAR_063174"
FT VARIANT 72
FT /note="Y -> C (in CSNB1C; dbSNP:rs200514769)"
FT /evidence="ECO:0000269|PubMed:19896113"
FT /id="VAR_063175"
FT VARIANT 74
FT /note="R -> C (in CSNB1C; dbSNP:rs774365264)"
FT /evidence="ECO:0000269|PubMed:19878917,
FT ECO:0000269|PubMed:19896109"
FT /id="VAR_063176"
FT VARIANT 99
FT /note="L -> P (in CSNB1C; dbSNP:rs191205969)"
FT /evidence="ECO:0000269|PubMed:19896109,
FT ECO:0000269|PubMed:19896113"
FT /id="VAR_063177"
FT VARIANT 364
FT /note="L -> R (in CSNB1C; dbSNP:rs372608320)"
FT /evidence="ECO:0000269|PubMed:19896109"
FT /id="VAR_063178"
FT VARIANT 399
FT /note="P -> T (in dbSNP:rs141540242)"
FT /evidence="ECO:0000269|PubMed:19896113,
FT ECO:0000269|PubMed:9806836"
FT /id="VAR_063179"
FT VARIANT 473
FT /note="R -> P (in CSNB1C)"
FT /evidence="ECO:0000269|PubMed:19896113"
FT /id="VAR_063180"
FT VARIANT 534
FT /note="G -> R (in CSNB1C; dbSNP:rs748043795)"
FT /evidence="ECO:0000269|PubMed:19896109"
FT /id="VAR_063181"
FT VARIANT 541
FT /note="M -> K (in CSNB1C; dbSNP:rs1261040173)"
FT /evidence="ECO:0000269|PubMed:19896113"
FT /id="VAR_063182"
FT VARIANT 605
FT /note="V -> M (in dbSNP:rs17815774)"
FT /evidence="ECO:0000269|PubMed:19878917,
FT ECO:0000269|PubMed:19896113"
FT /id="VAR_052371"
FT VARIANT 611
FT /note="P -> H (in CSNB1C; dbSNP:rs267607139)"
FT /evidence="ECO:0000269|PubMed:19896109"
FT /id="VAR_063183"
FT VARIANT 721
FT /note="R -> Q (in CSNB1C; dbSNP:rs781460164)"
FT /evidence="ECO:0000269|PubMed:19878917"
FT /id="VAR_063184"
FT VARIANT 883
FT /note="E -> G (in CSNB1C; dbSNP:rs574652148)"
FT /evidence="ECO:0000269|PubMed:19878917"
FT /id="VAR_063185"
FT VARIANT 962
FT /note="M -> T (in a patient with night blindness started in
FT the third decade; associated in cis with G-1438)"
FT /evidence="ECO:0000269|PubMed:19878917"
FT /id="VAR_063186"
FT VARIANT 1002
FT /note="I -> F (in CSNB1C; dbSNP:rs369484186)"
FT /evidence="ECO:0000269|PubMed:19878917"
FT /id="VAR_063187"
FT VARIANT 1161
FT /note="Q -> H (in dbSNP:rs182549235)"
FT /evidence="ECO:0000269|PubMed:19896113"
FT /id="VAR_063188"
FT VARIANT 1229
FT /note="N -> T (in dbSNP:rs17227996)"
FT /evidence="ECO:0000269|PubMed:19896113"
FT /id="VAR_052372"
FT VARIANT 1305
FT /note="R -> H (in dbSNP:rs13380059)"
FT /id="VAR_052373"
FT VARIANT 1379
FT /note="P -> T (in dbSNP:rs61734298)"
FT /evidence="ECO:0000269|PubMed:19896113"
FT /id="VAR_063189"
FT VARIANT 1395
FT /note="V -> I (in dbSNP:rs3784588)"
FT /evidence="ECO:0000269|PubMed:19878917,
FT ECO:0000269|PubMed:19896113"
FT /id="VAR_052374"
FT VARIANT 1422
FT /note="R -> G (in dbSNP:rs3784587)"
FT /id="VAR_052375"
FT VARIANT 1422
FT /note="R -> W"
FT /evidence="ECO:0000269|PubMed:19896113"
FT /id="VAR_063190"
FT VARIANT 1438
FT /note="R -> G (in a patient with night blindness started in
FT the third decade; associated in cis with T-962)"
FT /evidence="ECO:0000269|PubMed:19878917"
FT /id="VAR_063191"
FT VARIANT 1498
FT /note="H -> Q (in dbSNP:rs12898290)"
FT /evidence="ECO:0000269|PubMed:19896113,
FT ECO:0000269|PubMed:9806836"
FT /id="VAR_052376"
FT MUTAGEN 989
FT /note="H->F: Reduces inhibition by zinc allowing zinc ion
FT influx."
FT /evidence="ECO:0000269|PubMed:21278253"
FT MUTAGEN 1021..1027
FT /note="Missing: Abolishes inhibition by zinc allowing zinc
FT ion influx."
FT /evidence="ECO:0000269|PubMed:21278253"
FT CONFLICT 1
FT /note="M -> T (in Ref. 2; ADJ52077)"
FT /evidence="ECO:0000305"
FT CONFLICT 369
FT /note="V -> L (in Ref. 3; BAC80200)"
FT /evidence="ECO:0000305"
FT CONFLICT 1195
FT /note="R -> G (in Ref. 3; BAC80201)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1603 AA; 182178 MW; 8B9658FAE3F7B32F CRC64;
MKDSNRCCCG QFTNQHIPPL PSATPSKNEE ESKQVETQPE KWSVAKHTQS YPTDSYGVLE
FQGGGYSNKA MYIRVSYDTK PDSLLHLMVK DWQLELPKLL ISVHGGLQNF EMQPKLKQVF
GKGLIKAAMT TGAWIFTGGV STGVISHVGD ALKDHSSKSR GRVCAIGIAP WGIVENKEDL
VGKDVTRVYQ TMSNPLSKLS VLNNSHTHFI LADNGTLGKY GAEVKLRRLL EKHISLQKIN
TRLGQGVPLV GLVVEGGPNV VSIVLEYLQE EPPIPVVICD GSGRASDILS FAHKYCEEGG
IINESLREQL LVTIQKTFNY NKAQSHQLFA IIMECMKKKE LVTVFRMGSE GQQDIEMAIL
TALLKGTNVS APDQLSLALA WNRVDIARSQ IFVFGPHWPP LGSLAPPTDS KATEKEKKPP
MATTKGGRGK GKGKKKGKVK EEVEEETDPR KIELLNWVNA LEQAMLDALV LDRVDFVKLL
IENGVNMQHF LTIPRLEELY NTRLGPPNTL HLLVRDVKKS NLPPDYHISL IDIGLVLEYL
MGGAYRCNYT RKNFRTLYNN LFGPKRPKAL KLLGMEDDEP PAKGKKKKKK KKEEEIDIDV
DDPAVSRFQY PFHELMVWAV LMKRQKMAVF LWQRGEESMA KALVACKLYK AMAHESSESD
LVDDISQDLD NNSKDFGQLA LELLDQSYKH DEQIAMKLLT YELKNWSNST CLKLAVAAKH
RDFIAHTCSQ MLLTDMWMGR LRMRKNPGLK VIMGILLPPT ILFLEFRTYD DFSYQTSKEN
EDGKEKEEEN TDANADAGSR KGDEENEHKK QRSIPIGTKI CEFYNAPIVK FWFYTISYLG
YLLLFNYVIL VRMDGWPSLQ EWIVISYIVS LALEKIREIL MSEPGKLSQK IKVWLQEYWN
ITDLVAISTF MIGAILRLQN QPYMGYGRVI YCVDIIFWYI RVLDIFGVNK YLGPYVMMIG
KMMIDMLYFV VIMLVVLMSF GVARQAILHP EEKPSWKLAR NIFYMPYWMI YGEVFADQID
LYAMEINPPC GENLYDEEGK RLPPCIPGAW LTPALMACYL LVANILLVNL LIAVFNNTFF
EVKSISNQVW KFQRYQLIMT FHDRPVLPPP MIILSHIYII IMRLSGRCRK KREGDQEERD
RGLKLFLSDE ELKRLHEFEE QCVQEHFREK EDEQQSSSDE RIRVTSERVE NMSMRLEEIN
ERETFMKTSL QTVDLRLAQL EELSNRMVNA LENLAGIDRS DLIQARSRAS SECEATYLLR
QSSINSADGY SLYRYHFNGE ELLFEDTSLS TSPGTGVRKK TCSFRIKEEK DVKTHLVPEC
QNSLHLSLGT STSATPDGSH LAVDDLKNAE ESKLGPDIGI SKEDDERQTD SKKEETISPS
LNKTDVIHGQ DKSDVQNTQL TVETTNIEGT ISYPLEETKI TRYFPDETIN ACKTMKSRSF
VYSRGRKLVG GVNQDVEYSS ITDQQLTTEW QCQVQKITRS HSTDIPYIVS EAAVQAEHKE
QFADMQDEHH VAEAIPRIPR LSLTITDRNG MENLLSVKPD QTLGFPSLRS KSLHGHPRNV
KSIQGKLDRS GHASSVSSLV IVSGMTAEEK KVKKEKASTE TEC
