Gene Gene information from NCBI Gene database.
Entrez ID 5947
Gene name Retinol binding protein 1
Gene symbol RBP1
Synonyms (NCBI Gene)
CRABP-ICRBPCRBP1CRBPIRBPChCRBP1
Chromosome 3
Chromosome location 3q23
Summary This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues,
miRNA miRNA information provided by mirtarbase database.
211
miRTarBase ID miRNA Experiments Reference
MIRT018800 hsa-miR-335-5p Microarray 18185580
MIRT1297332 hsa-miR-1273e CLIP-seq
MIRT1297333 hsa-miR-1287 CLIP-seq
MIRT1297334 hsa-miR-134 CLIP-seq
MIRT1297335 hsa-miR-142-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0002138 Process Retinoic acid biosynthetic process IEA
GO:0005501 Function Retinoid binding TAS 3472205
GO:0005504 Function Fatty acid binding IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180260 9919 ENSG00000114115
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09455
Protein name Retinol-binding protein 1 (Cellular retinol-binding protein) (CRBP) (Cellular retinol-binding protein I) (CRBP-I)
Protein function Cytoplasmic retinol-binding protein (PubMed:22665496, PubMed:26900151, PubMed:28057518). Accepts retinol from the transport protein STRA6, and thereby contributes to retinol uptake, storage and retinoid homeostasis (PubMed:15632377, PubMed:22665
PDB 5H8T , 5H9A , 5HA1 , 5HBS , 5LJB , 5LJC , 5LJD , 5LJE , 5LJG , 5LJH , 5LJK , 6E5L , 6E5T , 6E6M , 8GD2 , 8GDM , 8GEM , 8GEU , 8GEV , 8GEY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00061 Lipocalin 6 134 Lipocalin / cytosolic fatty-acid binding protein family Domain
Tissue specificity TISSUE SPECIFICITY: Detected in nearly all the tissues with higher expression in adult ovary, pancreas, pituitary gland and adrenal gland, and fetal liver. {ECO:0000269|PubMed:11274389}.
Sequence
Sequence length 135
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)
Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Lung cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15280411
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 30556317
★☆☆☆☆
Found in Text Mining only
Alopecia Areata Alopecia Areata BEFREE 30556317
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 12376462
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma BEFREE 23639973
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 1335015 Stimulate
★☆☆☆☆
Found in Text Mining only
Atypical Endometrial Hyperplasia Endometrial Hyperplasia BEFREE 16575402
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 18831746
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 18831746 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 21042705
★☆☆☆☆
Found in Text Mining only