Q9UHM6 (OPN4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Melanopsin

Alternative name(s):
Opsin-4

Gene names

Name:	OPN4
Synonyms:	MOP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	478 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Photoreceptor required for regulation of circadian rhythm. Contributes to pupillar reflex and other non-image forming responses to light. May be able to isomerize covalently bound all-trans retinal back to 11-cis retinal By similarity. Ref.1 Ref.5
Subcellular location	Cell membrane; Multi-pass membrane protein By similarity. Note: Found in soma, dendrites and proximal part of axons of certain retinal ganglion cells By similarity.
Tissue specificity	Eye. Expression is restricted within the ganglion and amacrine cell layers of the retina. Ref.1
Sequence similarities	Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
Sequence caution	The sequence BAC05951.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Biological rhythms Sensory transduction
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Chromophore
Molecular function	G-protein coupled receptor Photoreceptor protein Receptor Retinal protein Transducer
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	phototransduction Inferred from direct assay Ref.5. Source: UniProtKB protein-chromophore linkage Inferred from electronic annotation. Source: UniProtKB-KW regulation of circadian rhythm Inferred from sequence or structural similarity. Source: UniProtKB rhythmic process Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to membrane Traceable author statement Ref.1. Source: UniProtKB plasma membrane Traceable author statement. Source: Reactome
Molecular_function	11-cis retinal binding Inferred from direct assay Ref.5. Source: UniProtKB G-protein coupled photoreceptor activity Inferred from direct assay Ref.5. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UHM6-1)

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: Q9UHM6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     97-97: R → RAVLRGVTVMMQ

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 478	478	Melanopsin		PRO_0000197815
Regions
	Topological domain	1 – 72	72	Extracellular Potential
	Transmembrane	73 – 93	21	Helical; Name=1; Potential
	Topological domain	94 – 107	14	Cytoplasmic Potential
	Transmembrane	108 – 128	21	Helical; Name=2; Potential
	Topological domain	129 – 144	16	Extracellular Potential
	Transmembrane	145 – 165	21	Helical; Name=3; Potential
	Topological domain	166 – 188	23	Cytoplasmic Potential
	Transmembrane	189 – 209	21	Helical; Name=4; Potential
	Topological domain	210 – 238	29	Extracellular Potential
	Transmembrane	239 – 259	21	Helical; Name=5; Potential
	Topological domain	260 – 296	37	Cytoplasmic Potential
	Transmembrane	297 – 317	21	Helical; Name=6; Potential
	Topological domain	318 – 332	15	Extracellular Potential
	Transmembrane	333 – 353	21	Helical; Name=7; Potential
	Topological domain	354 – 478	125	Cytoplasmic Potential
Amino acid modifications
	Modified residue	340	1	N6-(retinylidene)lysine
	Disulfide bond	143 ↔ 221		Potential
Natural variations
	Alternative sequence	97	1	R → RAVLRGVTVMMQ in isoform 2.		VSP_041123
	Natural variant	10	1	P → L. Ref.3 Ref.4 Corresponds to variant rs2675703 [ dbSNP | Ensembl ].		VAR_029774
	Natural variant	394	1	T → I. Ref.2 Corresponds to variant rs1079610 [ dbSNP | Ensembl ].		VAR_020430
	Natural variant	444	1	G → D. Corresponds to variant rs12262894 [ dbSNP | Ensembl ].		VAR_029775

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: A8022F5B5AA1198F	FASTA	478	52,635
	10 20 30 40 50 60 MNPPSGPRVP PSPTQEPSCM ATPAPPSWWD SSQSSISSLG RLPSISPTAP GTWAAAWVPL 70 80 90 100 110 120 PTVDVPDHAH YTLGTVILLV GLTGMLGNLT VIYTFCRSRS LRTPANMFII NLAVSDFLMS 130 140 150 160 170 180 FTQAPVFFTS SLYKQWLFGE TGCEFYAFCG ALFGISSMIT LTAIALDRYL VITRPLATFG 190 200 210 220 230 240 VASKRRAAFV LLGVWLYALA WSLPPFFGWS AYVPEGLLTS CSWDYMSFTP AVRAYTMLLC 250 260 270 280 290 300 CFVFFLPLLI IIYCYIFIFR AIRETGRALQ TFGACKGNGE SLWQRQRLQS ECKMAKIMLL 310 320 330 340 350 360 VILLFVLSWA PYSAVALVAF AGYAHVLTPY MSSVPAVIAK ASAIHNPIIY AITHPKYRVA 370 380 390 400 410 420 IAQHLPCLGV LLGVSRRHSR PYPSYRSTHR STLTSHTSNL SWISIRRRQE SLGSESEVGW 430 440 450 460 470 THMEAAAVWG AAQQANGRSL YGQGLEDLEA KAPPRPQGHE AETPGKTKGL IPSQDPRM
	Isoform 2 [UniParc]. Checksum: 48D2D86479D9EC72	FASTA	489	53,822
	10 20 30 40 50 60 MNPPSGPRVP PSPTQEPSCM ATPAPPSWWD SSQSSISSLG RLPSISPTAP GTWAAAWVPL 70 80 90 100 110 120 PTVDVPDHAH YTLGTVILLV GLTGMLGNLT VIYTFCRAVL RGVTVMMQSR SLRTPANMFI 130 140 150 160 170 180 INLAVSDFLM SFTQAPVFFT SSLYKQWLFG ETGCEFYAFC GALFGISSMI TLTAIALDRY 190 200 210 220 230 240 LVITRPLATF GVASKRRAAF VLLGVWLYAL AWSLPPFFGW SAYVPEGLLT SCSWDYMSFT 250 260 270 280 290 300 PAVRAYTMLL CCFVFFLPLL IIIYCYIFIF RAIRETGRAL QTFGACKGNG ESLWQRQRLQ 310 320 330 340 350 360 SECKMAKIML LVILLFVLSW APYSAVALVA FAGYAHVLTP YMSSVPAVIA KASAIHNPII 370 380 390 400 410 420 YAITHPKYRV AIAQHLPCLG VLLGVSRRHS RPYPSYRSTH RSTLTSHTSN LSWISIRRRQ 430 440 450 460 470 480 ESLGSESEVG WTHMEAAAVW GAAQQANGRS LYGQGLEDLE AKAPPRPQGH EAETPGKTKG LIPSQDPRM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel human opsin in the inner retina." Provencio I., Rodriguez I.R., Jiang G., Hayes W.P., Moreira E.F., Rollag M.D. J. Neurosci. 20:600-605(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, TISSUE SPECIFICITY.
[2]	SeattleSNPs variation discovery resource Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-394.
[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] (ISOFORMS 1 AND 2), VARIANT LEU-10. Tissue: Brain and Brain cortex.
[4]	"Genome-wide discovery and analysis of human seven transmembrane helix receptor genes." Suwa M., Sato T., Okouchi I., Arita M., Futami K., Matsumoto S., Tsutsumi S., Aburatani H., Asai K., Akiyama Y. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-418, VARIANT LEU-10.
[5]	"Addition of human melanopsin renders mammalian cells photoresponsive." Melyan Z., Tarttelin E.E., Bellingham J., Lucas R.J., Hankins M.W. Nature 433:741-745(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
+	Additional computationally mapped references.

Web resources

SeattleSNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF147788 Genomic DNA. Translation: AAF24978.1. DQ314804 Genomic DNA. Translation: ABC40723.1. BC113558 mRNA. Translation: AAI13559.1. BC143688 mRNA. Translation: AAI43689.1. AB065730 Genomic DNA. Translation: BAC05951.1. Sequence problems.
IPI	IPI00005930. IPI00646790.
RefSeq	NP_001025186.1. NM_001030015.2. NP_150598.1. NM_033282.3.
UniGene	Hs.283922.
3D structure databases
ProteinModelPortal	Q9UHM6.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000361141.
Protein family/group databases
GPCRDB	Search...
Polymorphism databases
DMDM	13632136.
Proteomic databases
PaxDb	Q9UHM6.
PRIDE	Q9UHM6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000241891; ENSP00000241891; ENSG00000122375. ENST00000372071; ENSP00000361141; ENSG00000122375.
GeneID	94233.
KEGG	hsa:94233.
UCSC	uc001kdp.3. human. uc001kdq.3. human.
Organism-specific databases
CTD	94233.
GeneCards	GC10P088417.
HGNC	HGNC:14449. OPN4.
HPA	HPA039147.
MIM	606665. gene.
neXtProt	NX_Q9UHM6.
PharmGKB	PA31940.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG255465.
HOGENOM	HOG000264261.
HOVERGEN	HBG007871.
KO	K04255.
OrthoDB	EOG418BNM.
PhylomeDB	Q9UHM6.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
ArrayExpress	Q9UHM6.
Bgee	Q9UHM6.
CleanEx	HS_OPN4.
Genevestigator	Q9UHM6.
GermOnline	ENSG00000122375. Homo sapiens.
Family and domain databases
InterPro	IPR000276. GPCR_Rhodpsn. IPR017452. GPCR_Rhodpsn_7TM. IPR001760. Opsin. [Graphical view]
Pfam	PF00001. 7tm_1. 1 hit. [Graphical view]
PRINTS	PR00237. GPCRRHODOPSN. PR00238. OPSIN.
PROSITE	PS00237. G_PROTEIN_RECEP_F1_1. 1 hit. PS50262. G_PROTEIN_RECEP_F1_2. 1 hit. PS00238. OPSIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	94233.
NextBio	78466.
SOURCE	Search...

Entry information

Entry name

OPN4_HUMAN

Accession

Primary (citable) accession number: Q9UHM6
Secondary accession number(s): B7ZLB3 , Q14D01, Q2PP22, Q8NGQ9

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 104 of the entry and version 1 of the sequence. [Complete 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.