GUCA1B
entrez
2979
canonical
uniprot
Q9UMX6
canonical
ensembl
ENSG00000112599
resolver
ensp
ENSP00000230361
resolver
enst
ENST00000230361
resolver
genesymbol
GUCA1B
resolver
genesymbol_syn
GCAP2
resolver
hgnc
HGNC:4679
resolver
uniprot
Q9NU15
resolver
uniprot_entry
GUC1B_HUMAN
resolver
uniprot_sec
Q9NU15
resolver
amino_acid_sequence
MGQEFSWEEAEAAGEIDVAELQEWYKKFVMECPSGTLFMHEFKRFFKVTDDEEASQYVEGMFRAFDKNGDNTIDFLEYVAALNLVLRGTLEHKLKWTFKIYDKDGNGCIDRLELLNIVEGIYQLKKACRRELQTEQGQLLTPEEVVDRIFLLVDENGDGQLSLNEFVEGARRDKWVMKMLQMDMNPSSWLAQQRRKSAMF
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 48 (RP48) [MIM:613827]: 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:15452722}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated (By similarity). This Ca(2+)-sensitive regulation of GCs is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor response and recovery of response in bright light (By similarity). {ECO:0000250|UniProtKB:P51177, ECO:0000250|UniProtKB:Q8VBV8}.
uniprot
proteins
mass_dalton
23420
uniprot
proteins
post_translational_modification
PTM: The N-terminus is blocked. {ECO:0000250|UniProtKB:P51177}.
uniprot
proteins
pubmed
10507726
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15452722
uniprot
proteins
pubmed
9119368
uniprot
proteins
pubmed
9620085
uniprot
proteins
sequence_length
200
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P51177}; Lipid-anchor {ECO:0000250|UniProtKB:P51177}. Photoreceptor inner segment {ECO:0000269|PubMed:9620085}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:9620085}. Note=Subcellular location is not affected by light or dark conditions. {ECO:0000250|UniProtKB:Q8VBV8}.
uniprot
proteins