RLBP1
entrez
6017
canonical
uniprot
P12271
canonical
ensembl
ENSG00000140522
resolver
ensp
ENSP00000268125
resolver
ensp
ENSP00000543676
resolver
ensp
ENSP00000543677
resolver
ensp
ENSP00000543678
resolver
enst
ENST00000268125
resolver
enst
ENST00000873617
resolver
enst
ENST00000873618
resolver
enst
ENST00000873619
resolver
genesymbol
RLBP1
resolver
genesymbol_syn
CRALBP
resolver
hgnc
HGNC:10024
resolver
uniprot
B2R667
resolver
uniprot_entry
RLBP1_HUMAN
resolver
uniprot_sec
B2R667
resolver
amino_acid_sequence
MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF
uniprot
proteins
disease_involvement
DISEASE: Bothnia retinal dystrophy (BRD) [MIM:607475]: A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. {ECO:0000269|PubMed:10102298}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Rod-cone dystrophy Newfoundland (NFRCD) [MIM:607476]: A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss. {ECO:0000269|PubMed:11868161}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis punctata albescens (RPA) [MIM:136880]: A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina. {ECO:0000269|PubMed:10102299, ECO:0000269|PubMed:11453974, ECO:0000269|PubMed:9326942}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'. {ECO:0000269|PubMed:19846785}.
uniprot
proteins
mass_dalton
36474
uniprot
proteins
pubmed
10102298
uniprot
proteins
pubmed
10102299
uniprot
proteins
pubmed
11453974
uniprot
proteins
pubmed
11868161
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19846785
uniprot
proteins
pubmed
3198595
uniprot
proteins
pubmed
7929238
uniprot
proteins
pubmed
9326942
uniprot
proteins
pubmed
9541407
uniprot
proteins
sequence_length
317
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins