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, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug ... See more...

Aliases for RBP1 Gene

Aliases for RBP1 Gene

  • Retinol Binding Protein 1 2 3 5
  • Retinol-Binding Protein 1, Cellular 2 3
  • Cellular Retinol-Binding Protein I 3 4
  • Cellular Retinol Binding Protein 1 2 3
  • Retinol-Binding Protein 1 3 4
  • CRBP-I 3 4
  • CRBP1 3 4
  • CRBP 3 4
  • Cellular Retinol-Binding Protein 4
  • CRABP-I 3
  • CRBPI 3
  • RBPC 3

External Ids for RBP1 Gene

Previous GeneCards Identifiers for RBP1 Gene

  • GC03M136134
  • GC03M140065
  • GC03M140517
  • GC03M140557
  • GC03M140718
  • GC03M139236
  • GC03M136611

Summaries for RBP1 Gene

Entrez Gene Summary for RBP1 Gene

  • 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, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for RBP1 Gene

RBP1 (Retinol Binding Protein 1) is a Protein Coding gene. Diseases associated with RBP1 include Blepharophimosis and Epicanthus. Among its related pathways are Diseases associated with visual transduction and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transporter activity and retinal binding. An important paralog of this gene is RBP7.

UniProtKB/Swiss-Prot Summary for RBP1 Gene

  • 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:22665496).

Gene Wiki entry for RBP1 Gene

Additional gene information for RBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBP1 Gene

Genomics for RBP1 Gene

GeneHancer (GH) Regulatory Elements for RBP1 Gene

Promoters and enhancers for RBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBP1

Top Transcription factor binding sites by QIAGEN in the RBP1 gene promoter:
  • Elk-1
  • FOXC1
  • MAZR
  • Nkx2-5
  • p300
  • p53
  • POU2F1
  • POU2F1a
  • RelA
  • SEF-1 (1)

Genomic Locations for RBP1 Gene

Genomic Locations for RBP1 Gene
chr3:139,517,434-139,539,829
(GRCh38/hg38)
Size:
22,396 bases
Orientation:
Minus strand
chr3:139,236,276-139,258,671
(GRCh37/hg19)
Size:
22,396 bases
Orientation:
Minus strand

Genomic View for RBP1 Gene

Genes around RBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBP1 Gene

Proteins for RBP1 Gene

  • Protein details for RBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09455-RET1_HUMAN
    Recommended name:
    Retinol-binding protein 1
    Protein Accession:
    P09455
    Secondary Accessions:
    • A8K2Q0
    • B7Z7A0
    • E7EWV0
    • F2Z2F2
    • Q6FGX8

    Protein attributes for RBP1 Gene

    Size:
    135 amino acids
    Molecular mass:
    15850 Da
    Quaternary structure:
    • Interacts (only as retinol-free apoprotein) with STRA6.

    Three dimensional structures from OCA and Proteopedia for RBP1 Gene

    Alternative splice isoforms for RBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBP1 Gene

Post-translational modifications for RBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RBP1 Gene

Domains & Families for RBP1 Gene

Gene Families for RBP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RBP1 Gene

Blocks:
  • Cytosolic fatty-acid binding protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBP1 Gene

GenScript: Design optimal peptide antigens:
  • Cellular retinol-binding protein I (RET1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P09455

UniProtKB/Swiss-Prot:

RET1_HUMAN :
  • Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior.
  • Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.
Domain:
  • Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior.
Family:
  • Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.
genes like me logo Genes that share domains with RBP1: view

Function for RBP1 Gene

Molecular function for RBP1 Gene

UniProtKB/Swiss-Prot 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:22665496).
GENATLAS Biochemistry:
retinol binding protein 1,cellular (lipocalin family,Kernel group),monomer,essential for vitamin A homeostasis

Phenotypes From GWAS Catalog for RBP1 Gene

Gene Ontology (GO) - Molecular Function for RBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005501 retinoid binding TAS 3472205
GO:0008289 lipid binding IEA --
GO:0016918 retinal binding IEA --
GO:0019841 retinol binding IEA --
GO:1904768 all-trans-retinol binding IDA 28057518
genes like me logo Genes that share ontologies with RBP1: view
genes like me logo Genes that share phenotypes with RBP1: view

Animal Models for RBP1 Gene

MGI Knock Outs for RBP1:
  • Rbp1 Rbp1<tm1Ipc>
  • Rbp1 Rbp1<tm2b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for RBP1 Gene

miRTarBase miRNAs that target RBP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBP1 Gene

Localization for RBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBP1 Gene

Cytoplasm. Lipid droplet.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBP1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005811 lipid droplet IDA,IEA 15632377
GO:0005829 cytosol TAS --
GO:0044297 cell body IEA --
genes like me logo Genes that share ontologies with RBP1: view

Pathways & Interactions for RBP1 Gene

genes like me logo Genes that share pathways with RBP1: view

Gene Ontology (GO) - Biological Process for RBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0002138 retinoic acid biosynthetic process IEA --
GO:0006776 vitamin A metabolic process TAS,IMP 15632377
GO:0030852 regulation of granulocyte differentiation IEA --
GO:0033189 response to vitamin A IEA --
genes like me logo Genes that share ontologies with RBP1: view

No data available for SIGNOR curated interactions for RBP1 Gene

Drugs & Compounds for RBP1 Gene

(7) Drugs for RBP1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Target 658
Acitretin Approved Pharma Target, agonist Metabolite of etretinate 31
Beta carotene Approved Nutra Carrier, substrate 72

(19) Additional Compounds for RBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RBP1: view

Transcripts for RBP1 Gene

mRNA/cDNA for RBP1 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBP1 Gene

No ASD Table

Relevant External Links for RBP1 Gene

GeneLoc Exon Structure for
RBP1

Expression for RBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBP1 Gene

mRNA differential expression in normal tissues according to GTEx for RBP1 Gene

This gene is overexpressed in Ovary (x15.2), Pancreas (x6.9), and Adrenal Gland (x4.1).

Protein differential expression in normal tissues from HIPED for RBP1 Gene

This gene is overexpressed in Ovary (14.0), Fetal ovary (12.0), and Fetal testis (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBP1 Gene



Protein tissue co-expression partners for RBP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBP1

SOURCE GeneReport for Unigene cluster for RBP1 Gene:

Hs.529571

mRNA Expression by UniProt/SwissProt for RBP1 Gene:

P09455-RET1_HUMAN
Tissue specificity: Detected in nearly all the tissues with higher expression in adult ovary, pancreas, pituitary gland and adrenal gland, and fetal liver.

Evidence on tissue expression from TISSUES for RBP1 Gene

  • Liver(4.6)
  • Heart(4.4)
  • Nervous system(3.5)
  • Eye(2.9)
  • Lung(2.8)
  • Pancreas(2.5)
  • Intestine(2.4)
  • Skin(2.3)
  • Adrenal gland(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with RBP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBP1 Gene

Orthologs for RBP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBP1 31 30
  • 99.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RBP1 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBP1 31
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbp1 17 31 30
  • 90.37 (n)
rat
(Rattus norvegicus)
Mammalia Rbp1 30
  • 90.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RBP1 31
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RBP1 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBP1 31 30
  • 74.57 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbp1 30
  • 75.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6191 30
zebrafish
(Danio rerio)
Actinopterygii rbp1b 31
  • 75 (a)
OneToMany
RBP1 (2 of 3) 31
  • 72 (a)
OneToMany
si:ch211-119o8.7 30
  • 71.21 (n)
rbp2b 31
  • 37 (a)
OneToMany
Dr.15881 30
Species where no ortholog for RBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RBP1 Gene

ENSEMBL:
Gene Tree for RBP1 (if available)
TreeFam:
Gene Tree for RBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBP1: view image

Paralogs for RBP1 Gene

(14) SIMAP similar genes for RBP1 Gene using alignment to 2 proteins:

  • RET1_HUMAN
  • H0YAK8_HUMAN
genes like me logo Genes that share paralogs with RBP1: view

Variants for RBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBP1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
791955 Benign: not provided 139,538,885(-) T/C MISSENSE_VARIANT
rs587783020 Uncertain Significance: Leber congenital amaurosis 139,538,818(-) TCAAACTCCTTCCCA/ FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for RBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RBP1 Gene

Variant ID Type Subtype PubMed ID
nsv1001460 CNV gain 25217958

Variation tolerance for RBP1 Gene

Residual Variation Intolerance Score: 41.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.86; 79.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBP1 Gene

Human Gene Mutation Database (HGMD)
RBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBP1 Gene

Disorders for RBP1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for RBP1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RBP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBP1 Gene

Publications for RBP1 Gene

  1. Cellular retinol-binding protein I, a regulator of breast epithelial retinoic acid receptor activity, cell differentiation, and tumorigenicity. (PMID: 15632377) Farias EF … Mira y Lopez R (Journal of the National Cancer Institute 2005) 3 4 23 54
  2. Identification, retinoid binding, and x-ray analysis of a human retinol-binding protein. (PMID: 11274389) Folli C … Berni R (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 23 54
  3. Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization. (PMID: 9858824) De Baere E … Messiaen L (Cytogenetics and cell genetics 1998) 2 3 23 54
  4. Structural and molecular determinants affecting the interaction of retinol with human CRBP1. (PMID: 28057518) Menozzi I … Zanotti G (Journal of structural biology 2017) 3 4 54
  5. Ligand Binding Induces Conformational Changes in Human Cellular Retinol-binding Protein 1 (CRBP1) Revealed by Atomic Resolution Crystal Structures. (PMID: 26900151) Silvaroli JA … Golczak M (The Journal of biological chemistry 2016) 3 4 54

Products for RBP1 Gene

Sources for RBP1 Gene