NucEnvDB

NucEnvDB

A database of Nuclear Envelope Proteins and their Interactions

Short-wave-sensitive opsin 1 - Homo sapiens - NucEnvDB

Short-wave-sensitive opsin 1 (Homo sapiens)

FASTA TEXT XML

Subcellular Location Biology & Function Disease Associations Interactions Cross-References

General Information

Protein Information
Protein Name	Short-wave-sensitive opsin 1
Accession Code	P03999
Gene	OPN1SW
Organism	Homo sapiens \| Human (Taxonomy: 9606)
Part of Reference Proteome?	Yes
Sequence (Length: 348)
MRKMSEEEFYLFKNISSVGPWDGPQYHIAPVWAFYLQAAFMGTVFLIGFPLNAMVLVATLRYKKLRQPLNYILVNVSFGGFLLCIFSVFPVFVASCNGYFVFGRHVCALEGFLGTVAGLVTGWSLAFLAF ERYIVICKPFGNFRFSSKHALTVVLATWTIGIGVSIPPFFGWSRFIPEGLQCSCGPDWYTVGTKYRSESYTWFLFIFCFIVPLSLICFSYTQLLRALKAVAAQQQESATTQKAEREVSRMVVVMVGSFCV CYVPYAAFAMYMVNNRNHGLDLRLVTIPSFFSKSACIYNPIIYCFMNKQFQACIMKMVCGKAMTDESDTCSSQKTEVSTVSSTQVGPN

Subcellular Location

Description
Cell membrane {Experimental EvidencePubMed:2937147, Experimental EvidencePubMed:31380578, Experimental EvidencePubMed:31730232}; Multi-pass membrane protein {Sequence Analysis}. Photoreceptor inner segment {By SimilarityUniProtKB:P51491}. Cell projection, cilium, photoreceptor outer segment {By SimilarityUniProtKB:P51491}. Cytoplasm, perinuclear region {ECO:0000269\|PubMed:30168605}.
Position in the Nuclear Envelope
Location	Location ID	Description
Perinuclear Region	SL-0198	The perinuclear region is the cytoplasmic region just around the nucleus.
Membrane Topology
Topology	Source	Annotation Type
Transmembrane	UniProt	Sequence Analysis {ECO:0000255}
Assigned Ontology terms

Cellular Component	Cone Photoreceptor Outer Segment (GO:0120199) Perinuclear Region Of Cytoplasm (GO:0048471) Photoreceptor Disc Membrane (GO:0097381) Photoreceptor Inner Segment (GO:0001917) Photoreceptor Outer Segment (GO:0001750) Plasma Membrane (GO:0005886)

Biology & Function

Description
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal (Probable). Required for the maintenance of cone outer segment organization in the ventral retina, but not essential for the maintenance of functioning cone photoreceptors (By similarity). Involved in ensuring correct abundance and localization of retinal membrane proteins (By similarity). May increase spectral sensitivity in dim light (By similarity). {By SimilarityUniProtKB:P51491, Curator InferencePubMed:2937147}.
Assigned Ontology terms

Biological Process	Cellular Response To Light Stimulus (GO:0071482) Cellular Response To UV-A (GO:0071492) G Protein-Coupled Receptor Signaling Pathway (GO:0007186) Phototransduction (GO:0007602) Signal Transduction (GO:0007165) Visual Perception (GO:0007601)
Molecular Function	G Protein-Coupled Photoreceptor Activity (GO:0008020) Signaling Receptor Activity (GO:0038023)

Disease associations

Description
Tritan color blindness (CBT) [MIM:190900]: A disorder of vision characterized by a selective deficiency of blue spectral sensitivity. {Experimental EvidencePubMed:1386496, Experimental EvidencePubMed:1531728, Experimental EvidencePubMed:23022137}. Note=The disease is caused by variants affecting the gene represented in this entry.
Database Associations
OMIM	190900 613522
DisGeNET	611

Protein-Protein Interactions

Interactions with other proteins (1 interactors)

Partner (UniProt)		IntAct	Confidence score
Q9GZY8	Mitochondrial fission factor	EBI-24523945	0.56

Cross-References

Database	Links
UNIPROT	P03999 Q13877
Pfam	PF00001
PROSITE	PS00237 PS50262 PS00238
OMIM	190900 613522
DisGeNET	611

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