OPN4_HUMAN
ID OPN4_HUMAN Reviewed; 478 AA.
AC Q9UHM6; B7ZLB3; Q14D01; Q2PP22; Q8NGQ9;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Melanopsin;
DE AltName: Full=Opsin-4;
GN Name=OPN4; Synonyms=MOP;
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]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND TISSUE SPECIFICITY.
RX PubMed=10632589; DOI=10.1523/jneurosci.20-02-00600.2000;
RA Provencio I., Rodriguez I.R., Jiang G., Hayes W.P., Moreira E.F.,
RA Rollag M.D.;
RT "A novel human opsin in the inner retina.";
RL J. Neurosci. 20:600-605(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ILE-394.
RG SeattleSNPs variation discovery resource;
RL Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP LEU-10.
RC TISSUE=Brain, and Brain cortex;
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 [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-418, AND VARIANT LEU-10.
RA Suwa M., Sato T., Okouchi I., Arita M., Futami K., Matsumoto S.,
RA Tsutsumi S., Aburatani H., Asai K., Akiyama Y.;
RT "Genome-wide discovery and analysis of human seven transmembrane helix
RT receptor genes.";
RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP FUNCTION.
RX PubMed=15674244; DOI=10.1038/nature03344;
RA Melyan Z., Tarttelin E.E., Bellingham J., Lucas R.J., Hankins M.W.;
RT "Addition of human melanopsin renders mammalian cells photoresponsive.";
RL Nature 433:741-745(2005).
CC -!- FUNCTION: Photoreceptor that binds cis-retinaldehydes
CC (PubMed:15674244). Contributes to pupillar reflex, photoentrainment and
CC other non-image forming responses to light (By similarity). May be
CC involved in the optokinetic visual tracking response (By similarity).
CC May be involved in the regulation of retinal hyaloid vessel growth and
CC regression (By similarity). {ECO:0000250|UniProtKB:Q9QXZ9,
CC ECO:0000269|PubMed:15674244}.
CC -!- INTERACTION:
CC Q9UHM6; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-18058356, EBI-947187;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9QXZ9};
CC Multi-pass membrane protein {ECO:0000255}. Cell projection, axon
CC {ECO:0000250|UniProtKB:Q9QXZ9}. Cell projection, dendrite
CC {ECO:0000250|UniProtKB:Q9QXZ9}. Perikaryon
CC {ECO:0000250|UniProtKB:Q9QXZ9}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UHM6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UHM6-2; Sequence=VSP_041123;
CC -!- TISSUE SPECIFICITY: Expressed in the retina.
CC {ECO:0000269|PubMed:10632589}.
CC -!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family. Opsin
CC subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC05951.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/opn4/";
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DR EMBL; AF147788; AAF24978.1; -; Genomic_DNA.
DR EMBL; DQ314804; ABC40723.1; -; Genomic_DNA.
DR EMBL; BC113558; AAI13559.1; -; mRNA.
DR EMBL; BC143688; AAI43689.1; -; mRNA.
DR EMBL; AB065730; BAC05951.1; ALT_SEQ; Genomic_DNA.
DR CCDS; CCDS31237.1; -. [Q9UHM6-2]
DR CCDS; CCDS7376.1; -. [Q9UHM6-1]
DR RefSeq; NP_001025186.1; NM_001030015.2. [Q9UHM6-2]
DR RefSeq; NP_150598.1; NM_033282.3. [Q9UHM6-1]
DR AlphaFoldDB; Q9UHM6; -.
DR SMR; Q9UHM6; -.
DR BioGRID; 125146; 68.
DR IntAct; Q9UHM6; 4.
DR STRING; 9606.ENSP00000361141; -.
DR TCDB; 9.A.14.1.8; the g-protein-coupled receptor (gpcr) family.
DR iPTMnet; Q9UHM6; -.
DR PhosphoSitePlus; Q9UHM6; -.
DR BioMuta; OPN4; -.
DR DMDM; 13632136; -.
DR PaxDb; Q9UHM6; -.
DR PeptideAtlas; Q9UHM6; -.
DR PRIDE; Q9UHM6; -.
DR Antibodypedia; 30087; 95 antibodies from 23 providers.
DR DNASU; 94233; -.
DR Ensembl; ENST00000241891.10; ENSP00000241891.5; ENSG00000122375.13. [Q9UHM6-1]
DR Ensembl; ENST00000372071.7; ENSP00000361141.2; ENSG00000122375.13. [Q9UHM6-2]
DR GeneID; 94233; -.
DR KEGG; hsa:94233; -.
DR MANE-Select; ENST00000241891.10; ENSP00000241891.5; NM_033282.4; NP_150598.1.
DR UCSC; uc001kdp.4; human. [Q9UHM6-1]
DR CTD; 94233; -.
DR DisGeNET; 94233; -.
DR GeneCards; OPN4; -.
DR HGNC; HGNC:14449; OPN4.
DR HPA; ENSG00000122375; Tissue enhanced (brain, skeletal muscle).
DR MIM; 606665; gene.
DR neXtProt; NX_Q9UHM6; -.
DR OpenTargets; ENSG00000122375; -.
DR PharmGKB; PA31940; -.
DR VEuPathDB; HostDB:ENSG00000122375; -.
DR eggNOG; KOG3656; Eukaryota.
DR GeneTree; ENSGT01030000234631; -.
DR HOGENOM; CLU_009579_3_12_1; -.
DR InParanoid; Q9UHM6; -.
DR OMA; HYTIGTV; -.
DR OrthoDB; 911005at2759; -.
DR PhylomeDB; Q9UHM6; -.
DR TreeFam; TF324998; -.
DR PathwayCommons; Q9UHM6; -.
DR Reactome; R-HSA-416476; G alpha (q) signalling events.
DR Reactome; R-HSA-419771; Opsins.
DR SignaLink; Q9UHM6; -.
DR BioGRID-ORCS; 94233; 17 hits in 1056 CRISPR screens.
DR GeneWiki; Melanopsin; -.
DR GenomeRNAi; 94233; -.
DR Pharos; Q9UHM6; Tbio.
DR PRO; PR:Q9UHM6; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9UHM6; protein.
DR Bgee; ENSG00000122375; Expressed in gastrocnemius and 63 other tissues.
DR ExpressionAtlas; Q9UHM6; baseline and differential.
DR Genevisible; Q9UHM6; HS.
DR GO; GO:0030424; C:axon; IEA:UniProtKB-SubCell.
DR GO; GO:0030425; C:dendrite; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; TAS:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0043204; C:perikaryon; IEA:UniProtKB-SubCell.
DR GO; GO:0097381; C:photoreceptor disc membrane; TAS:Reactome.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:1990913; C:sperm head plasma membrane; IEA:Ensembl.
DR GO; GO:0005502; F:11-cis retinal binding; IDA:UniProtKB.
DR GO; GO:0008020; F:G protein-coupled photoreceptor activity; IDA:UniProtKB.
DR GO; GO:0071482; P:cellular response to light stimulus; IBA:GO_Central.
DR GO; GO:0050960; P:detection of temperature stimulus involved in thermoception; IEA:Ensembl.
DR GO; GO:0007186; P:G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR GO; GO:1990384; P:hyaloid vascular plexus regression; ISS:UniProtKB.
DR GO; GO:0007634; P:optokinetic behavior; ISS:UniProtKB.
DR GO; GO:0007602; P:phototransduction; IDA:UniProtKB.
DR GO; GO:0042752; P:regulation of circadian rhythm; ISS:UniProtKB.
DR GO; GO:0048511; P:rhythmic process; IEA:UniProtKB-KW.
DR GO; GO:0043052; P:thermotaxis; IEA:Ensembl.
DR GO; GO:0007601; P:visual perception; IEA:InterPro.
DR InterPro; IPR000276; GPCR_Rhodpsn.
DR InterPro; IPR017452; GPCR_Rhodpsn_7TM.
DR InterPro; IPR001760; Opsin.
DR InterPro; IPR027430; Retinal_BS.
DR Pfam; PF00001; 7tm_1; 1.
DR PRINTS; PR00237; GPCRRHODOPSN.
DR PRINTS; PR00238; OPSIN.
DR SMART; SM01381; 7TM_GPCR_Srsx; 1.
DR PROSITE; PS00237; G_PROTEIN_RECEP_F1_1; 1.
DR PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
DR PROSITE; PS00238; OPSIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Biological rhythms; Cell membrane; Cell projection;
KW Chromophore; Disulfide bond; G-protein coupled receptor; Membrane;
KW Photoreceptor protein; Receptor; Reference proteome; Retinal protein;
KW Sensory transduction; Transducer; Transmembrane; Transmembrane helix.
FT CHAIN 1..478
FT /note="Melanopsin"
FT /id="PRO_0000197815"
FT TOPO_DOM 1..72
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 73..93
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 94..107
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 108..128
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 129..144
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 145..165
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 166..188
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 189..209
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 210..238
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 239..259
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 260..296
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 297..317
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 318..332
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 333..353
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 354..478
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 440..478
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..20
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 340
FT /note="N6-(retinylidene)lysine"
FT DISULFID 143..221
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00521"
FT VAR_SEQ 97
FT /note="R -> RAVLRGVTVMMQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_041123"
FT VARIANT 10
FT /note="P -> L (in dbSNP:rs2675703)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4"
FT /id="VAR_029774"
FT VARIANT 394
FT /note="T -> I (in dbSNP:rs1079610)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_020430"
FT VARIANT 444
FT /note="G -> D (in dbSNP:rs12262894)"
FT /id="VAR_029775"
SQ SEQUENCE 478 AA; 52635 MW; A8022F5B5AA1198F CRC64;
MNPPSGPRVP PSPTQEPSCM ATPAPPSWWD SSQSSISSLG RLPSISPTAP GTWAAAWVPL
PTVDVPDHAH YTLGTVILLV GLTGMLGNLT VIYTFCRSRS LRTPANMFII NLAVSDFLMS
FTQAPVFFTS SLYKQWLFGE TGCEFYAFCG ALFGISSMIT LTAIALDRYL VITRPLATFG
VASKRRAAFV LLGVWLYALA WSLPPFFGWS AYVPEGLLTS CSWDYMSFTP AVRAYTMLLC
CFVFFLPLLI IIYCYIFIFR AIRETGRALQ TFGACKGNGE SLWQRQRLQS ECKMAKIMLL
VILLFVLSWA PYSAVALVAF AGYAHVLTPY MSSVPAVIAK ASAIHNPIIY AITHPKYRVA
IAQHLPCLGV LLGVSRRHSR PYPSYRSTHR STLTSHTSNL SWISIRRRQE SLGSESEVGW
THMEAAAVWG AAQQANGRSL YGQGLEDLEA KAPPRPQGHE AETPGKTKGL IPSQDPRM
