RBP4
entrez
5950
canonical
uniprot
P02753
canonical
ensembl
ENSG00000138207
resolver
ensp
ENSP00000360519
resolver
ensp
ENSP00000360522
resolver
ensp
ENSP00000360524
resolver
ensp
ENSP00000524060
resolver
ensp
ENSP00000524062
resolver
ensp
ENSP00000524063
resolver
ensp
ENSP00000524064
resolver
ensp
ENSP00000524065
resolver
ensp
ENSP00000524066
resolver
ensp
ENSP00000524067
resolver
ensp
ENSP00000524074
resolver
ensp
ENSP00000524076
resolver
enst
ENST00000371464
resolver
enst
ENST00000371467
resolver
enst
ENST00000371469
resolver
enst
ENST00000854001
resolver
enst
ENST00000854003
resolver
enst
ENST00000854004
resolver
enst
ENST00000854005
resolver
enst
ENST00000854006
resolver
enst
ENST00000854007
resolver
enst
ENST00000854008
resolver
enst
ENST00000854015
resolver
enst
ENST00000854017
resolver
genesymbol
RBP4
resolver
hgnc
HGNC:9922
resolver
uniprot
D3DR38
resolver
uniprot
O43478
resolver
uniprot
O43479
resolver
uniprot
Q5VY24
resolver
uniprot
Q5VY30
resolver
uniprot
Q8WWA3
resolver
uniprot
Q9P178
resolver
uniprot_entry
Q5VY30_HUMAN
resolver
uniprot_entry
RET4_HUMAN
resolver
uniprot_sec
D3DR38
resolver
uniprot_sec
O43478
resolver
uniprot_sec
O43479
resolver
uniprot_sec
Q5VY24
resolver
uniprot_sec
Q8WWA3
resolver
uniprot_sec
Q9P178
resolver
amino_acid_sequence
MKWVWALLLLAALGSGRAERDCRVSSFRVKENFDKARFSGTWYAMAKKDPEGLFLQDNIVAEFSVDETGQMSATAKGRVRLLNNWDVCADMVGTFTDTEDPAKFKMKYWGVASFLQKGNDDHWIVDTDYDTYAVQYSCRLLNLDGTCADSYSFVFSRDPNGLPPEAQKIVRQRQEELCLARQYRLIVHNGYCDGRSERNLL
uniprot
proteins
disease_involvement
DISEASE: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147]: A disease characterized by retinal degeneration, ocular colobomas involving both the anterior and posterior segment, impaired night vision and loss of visual acuity. Additional characteristic features include developmental abnormalities and severe acne. {ECO:0000269|PubMed:10232633, ECO:0000269|PubMed:23189188, ECO:0000269|PubMed:9888420}. Note=The disease is caused by variants affecting the gene represented in this entry. Loss of functional RBP4 protein results in serum retinol deficiency. Lack of normal levels of retinol impairs the visual cycle leading to night blindness at early stages; prolonged deficiency may lead to retinal degeneration. Additionally, retinol deficiency may result in dry skin, increased susceptibility to infection and acne (PubMed:23189188). {ECO:0000269|PubMed:23189188}.; DISEASE: Microphthalmia/Coloboma 10 (MCOPCB10) [MIM:616428]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269|PubMed:25910211}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Retinol-binding protein that mediates retinol transport in blood plasma (PubMed:5541771). Delivers retinol from the liver stores to the peripheral tissues (Probable). Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane (PubMed:22665496). {ECO:0000269|PubMed:22665496, ECO:0000305, ECO:0000305|PubMed:5541771}.
uniprot
proteins
mass_dalton
23010
uniprot
proteins
protein_family
Calycin superfamily
uniprot
proteins
protein_family
Lipocalin family
uniprot
proteins
pubmed
10052934
uniprot
proteins
pubmed
10232633
uniprot
proteins
pubmed
12237133
uniprot
proteins
pubmed
12716133
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1623143
uniprot
proteins
pubmed
19021760
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2217163
uniprot
proteins
pubmed
22665496
uniprot
proteins
pubmed
23189188
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2444024
uniprot
proteins
pubmed
25910211
uniprot
proteins
pubmed
2998779
uniprot
proteins
pubmed
5541771
uniprot
proteins
pubmed
573217
uniprot
proteins
pubmed
6316270
uniprot
proteins
pubmed
6540172
uniprot
proteins
pubmed
6942701
uniprot
proteins
pubmed
7666002
uniprot
proteins
pubmed
7754382
uniprot
proteins
pubmed
9888420
uniprot
proteins
sequence_length
201
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12237133, ECO:0000269|PubMed:2444024, ECO:0000269|PubMed:5541771}.
uniprot
proteins