SAG
entrez
6295
canonical
uniprot
P10523
canonical
ensembl
ENSG00000130561
resolver
ensembl
ENSG00000281857
resolver
ensp
ENSP00000386444
resolver
ensp
ENSP00000486571
resolver
enst
ENST00000409110
resolver
enst
ENST00000631149
resolver
genesymbol
SAG
resolver
hgnc
HGNC:10521
resolver
uniprot
A0FDN6
resolver
uniprot
Q53SV3
resolver
uniprot
Q99858
resolver
uniprot_entry
ARRS_HUMAN
resolver
uniprot_sec
A0FDN6
resolver
uniprot_sec
Q53SV3
resolver
uniprot_sec
Q99858
resolver
amino_acid_sequence
MAASGKTSKSEPNHVIFKKISRDKSVTIYLGNRDYIDHVSQVQPVDGVVLVDPDLVKGKKVYVTLTCAFRYGQEDIDVIGLTFRRDLYFSRVQVYPPVGAASTPTKLQESLLKKLGSNTYPFLLTFPDYLPCSVMLQPAPQDSGKSCGVDFEVKAFATDSTDAEEDKIPKKSSVRLLIRKVQHAPLEMGPQPRAEAAWQFFMSDKPLHLAVSLNKEIYFHGEPIPVTVTVTNNTEKTVKKIKAFVEQVANVVLYSSDYYVKPVAMEEAQEKVPPNSTLTKTLTLLPLLANNRERRGIALDGKIKHEDTNLASSTIIKEGIDRTVLGILVSYQIKVKLTVSGFLGELTSSEVATEVPFRLMHPQPEDPAKESYQDANLVFEEFARHNLKDAGEAEEGKRDKNDVDE
uniprot
proteins
disease_involvement
DISEASE: Night blindness, congenital stationary, Oguchi type 1 (CSNBO1) [MIM:258100]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation. {ECO:0000269|PubMed:15234147, ECO:0000269|PubMed:22665972, ECO:0000269|PubMed:7670478, ECO:0000269|PubMed:9452120}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 47 (RP47) [MIM:613758]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:9565049}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 96 (RP96) [MIM:620228]: An autosomal dominant form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. {ECO:0000269|PubMed:28549094, ECO:0000269|PubMed:33047631}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the regulation of phototransduction, playing a key role in signal termination after rhodopsin (RHO) has been activated by light in rod photoreceptors. Binds to photoactivated and phosphorylated RHO, preventing its interaction with transducin (GNAT1) and terminating transducin-mediated opsin signaling (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells (PubMed:9565049). {ECO:0000250|UniProtKB:P08168, ECO:0000305|PubMed:9565049}.
uniprot
proteins
mass_dalton
45120
uniprot
proteins
protein_family
Arrestin family
uniprot
proteins
pubmed
15234147
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17286855
uniprot
proteins
pubmed
21288033
uniprot
proteins
pubmed
22665972
uniprot
proteins
pubmed
26200343
uniprot
proteins
pubmed
28549094
uniprot
proteins
pubmed
28753425
uniprot
proteins
pubmed
3164688
uniprot
proteins
pubmed
33047631
uniprot
proteins
pubmed
3720866
uniprot
proteins
pubmed
7670478
uniprot
proteins
pubmed
9020843
uniprot
proteins
pubmed
9452120
uniprot
proteins
pubmed
9501883
uniprot
proteins
pubmed
9565049
uniprot
proteins
sequence_length
405
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor inner segment {ECO:0000250|UniProtKB:P20443}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:3720866}. Membrane {ECO:0000250|UniProtKB:P20443}; Peripheral membrane protein {ECO:0000250|UniProtKB:P20443}. Note=In dark-adapted retina, it is predominatly localized to the outer nuclear layer and photoreceptor inner segments (By similarity). Localized to photoreceptor outer segments in light-exposed retina. During light exposure it first accumulates in the proximal region of photoreceptor outer segments, and moves toward the distal tip of the outer segment as light exposure is prolonged (By similarity). {ECO:0000250|UniProtKB:P20443}.
uniprot
proteins