OPN1SW

Protein-coding gene in the species Homo sapiens
OPN1SW
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1KPN

Identifiers
AliasesOPN1SW, BCP, BOP, CBT, opsin 1 (cone pigments), short-wave-sensitive, opsin 1, short wave sensitive
External IDsOMIM: 613522; MGI: 99438; HomoloGene: 1291; GeneCards: OPN1SW; OMA:OPN1SW - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for OPN1SW
Genomic location for OPN1SW
Band7q32.1Start128,772,485 bp[1]
End128,775,794 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for OPN1SW
Genomic location for OPN1SW
Band6|6 A3.3Start29,376,670 bp[2]
End29,388,467 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sural nerve

  • Brodmann area 46

  • stromal cell of endometrium

  • retinal pigment epithelium

  • Achilles tendon

  • prefrontal cortex

  • ganglionic eminence

  • exocrine gland

  • islet of Langerhans

  • blood
Top expressed in
  • outer nuclear layer

  • retinal pigment epithelium

  • morula

  • esophagus

  • right ventricle

  • lip

  • striated muscle tissue

  • skeletal muscle tissue

  • blastocyst

  • stomach
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • G protein-coupled receptor activity
  • photoreceptor activity
  • signal transducer activity
  • G protein-coupled photoreceptor activity
  • signaling receptor activity
Cellular component
  • integral component of membrane
  • integral component of plasma membrane
  • membrane
  • photoreceptor outer segment
  • photoreceptor disc membrane
Biological process
  • response to stimulus
  • signal transduction
  • visual perception
  • retinoid metabolic process
  • phototransduction
  • detection of visible light
  • G protein-coupled receptor signaling pathway
  • cellular response to light stimulus
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

611

12057

Ensembl

ENSG00000128617

ENSMUSG00000058831

UniProt

P03999

P51491

RefSeq (mRNA)

NM_001708
NM_001385125

NM_007538

RefSeq (protein)

NP_001699

NP_031564

Location (UCSC)Chr 7: 128.77 – 128.78 MbChr 6: 29.38 – 29.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Blue-sensitive opsin is a protein that in humans is encoded by the OPN1SW gene.[5][6][7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000128617 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058831 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Nathans J, Thomas D, Hogness DS (Apr 1986). "Molecular genetics of human color vision: the genes encoding blue, green, and red pigments". Science. 232 (4747): 193–202. Bibcode:1986Sci...232..193N. CiteSeerX 10.1.1.461.5915. doi:10.1126/science.2937147. PMID 2937147.
  6. ^ Fitzgibbon J, Appukuttan B, Gayther S, Wells D, Delhanty J, Hunt DM (Feb 1994). "Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32". Hum Genet. 93 (1): 79–80. doi:10.1007/bf00218919. PMID 8270261. S2CID 43548690.
  7. ^ "Entrez Gene: OPN1SW opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)".

Further reading

  • Applebury ML, Hargrave PA (1987). "Molecular biology of the visual pigments". Vision Res. 26 (12): 1881–95. doi:10.1016/0042-6989(86)90115-X. PMID 3303660. S2CID 34038855.
  • Swanson WH, Cohen JM (2003). "Color vision". Ophthalmology Clinics of North America. 16 (2): 179–203. doi:10.1016/S0896-1549(03)00004-X. PMID 12809157.
  • Weitz CJ, Went LN, Nathans J (1992). "Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment". Am. J. Hum. Genet. 51 (2): 444–6. PMC 1682686. PMID 1386496.
  • Weitz CJ, Miyake Y, Shinzato K, et al. (1992). "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin". Am. J. Hum. Genet. 50 (3): 498–507. PMC 1684278. PMID 1531728.
  • Oprian DD, Asenjo AB, Lee N, Pelletier SL (1992). "Design, chemical synthesis, and expression of genes for the three human color vision pigments". Biochemistry. 30 (48): 11367–72. doi:10.1021/bi00112a002. PMID 1742276.
  • Sarkar G, Sommer SS (1989). "Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity". Science. 244 (4902): 331–4. Bibcode:1989Sci...244..331S. doi:10.1126/science.2565599. PMID 2565599.
  • Nathans J, Piantanida TP, Eddy RL, et al. (1986). "Molecular genetics of inherited variation in human color vision". Science. 232 (4747): 203–10. Bibcode:1986Sci...232..203N. doi:10.1126/science.3485310. PMID 3485310.
  • Shimmin LC, Mai P, Li WH (1997). "Sequences and evolution of human and squirrel monkey blue opsin genes". J. Mol. Evol. 44 (4): 378–82. Bibcode:1997JMolE..44..378S. doi:10.1007/PL00006157. PMID 9089077. S2CID 6425474.
  • Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
  • Gunther KL, Neitz J, Neitz M (2006). "A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect". Vis. Neurosci. 23 (3–4): 403–9. doi:10.1017/S0952523806233169. PMID 16961973. S2CID 3748083.
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