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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 1 2 3
  • Cellular Retinol-Binding Protein I 3 4
  • CRBP-I 3 4
  • CRBP1 3 4
  • CRBP 3 4
  • Cellular Retinol-Binding Protein 4
  • Retinol-Binding Protein 1 3
  • 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 Epithelioid Cell Melanoma. Among its related pathways are Retinoid cycle disease events and Metabolism of fat-soluble vitamins. GO annotations related to this gene include transporter activity and retinal binding. An important paralog of this gene is RBP5.

UniProtKB/Swiss-Prot for RBP1 Gene

  • Intracellular transport of retinol.

Gene Wiki entry for RBP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBP1 Gene

Genomics for RBP1 Gene

Regulatory Elements for RBP1 Gene

Enhancers for RBP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G139531 1.5 Ensembl ENCODE dbSUPER 13.5 +3.2 3228 10.7 PKNOX1 FEZF1 YY1 GLIS2 FOS KLF7 ZNF263 SP3 JUNB ZNF488 COPB2 RBP1 ENSG00000272656 LOC100507291 MRPS22 GC03M139507
GH03G139552 0.7 ENCODE dbSUPER 11.5 -13.1 -13120 0.7 CTCF RAD21 RBP1 ENSG00000272656 GC03P139562
GH03G139548 0.9 ENCODE dbSUPER 8.9 -9.2 -9194 2.6 TFAP4 MAX ZNF644 RAD21 YY1 FOXA1 NR2F2 JUND ATF3 HNF4G RBP1 ACTG1P1 GC03P139562
GH03G139559 0.6 ENCODE 11.1 -19.9 -19916 1.4 ESRRA RFX1 CEBPG ZNF217 CTBP1 ZNF585B CREB1 PRDM10 FOS ZBTB33 RBP1 ENSG00000272656 GC03P139562
GH03G138593 1.3 ENCODE dbSUPER 4.4 +945.6 945567 2.4 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 FAIM CEP70 RBP1 GC03M138521
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBP1 on UCSC Golden Path with GeneCards custom track

Promoters for RBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000159149 129 1401 SOX13 TAF1 ZNF76 EBF1 ZIC2 HIC1 E2F1 ZFHX2 GLIS2 POLR2A

Genomic Location for RBP1 Gene

Chromosome:
3
Start:
139,517,434 bp from pter
End:
139,539,829 bp from pter
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:
    No Data Available

    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

Suggested Antigen Peptide Sequences for RBP1 Gene

GenScript: Design optimal peptide antigens:

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

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

Gene Ontology (GO) - Molecular Function for RBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005501 retinoid binding TAS 3472205
GO:0008289 lipid binding IEA --
GO:0016918 retinal binding IEA --
GO:0019841 retinol binding IEA --
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:

Animal Model Products

CRISPR Products

miRNA for RBP1 Gene

miRTarBase miRNAs that target RBP1

Inhibitory RNA 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.

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
extracellular 2
cytoskeleton 1
peroxisome 1

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: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 IEA,TAS --
GO:0006810 transport IEA --
GO:0030852 regulation of granulocyte differentiation 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acitretin Approved Pharma Target, agonist Metabolite of etretinate 30
Vitamin A Approved, Vet_approved Nutra Target 492

(21) 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

Unigene Clusters for RBP1 Gene

Retinol binding protein 1, cellular:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
RBP1

Expression for RBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RBP1 Gene



Protein tissue co-expression partners for RBP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RBP1 Gene:

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(2.8)
  • 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

Primer Products

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 34 35
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia RBP1 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBP1 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbp1 34 16 35
  • 90.37 (n)
rat
(Rattus norvegicus)
Mammalia Rbp1 34
  • 90.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RBP1 35
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RBP1 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBP1 34 35
  • 74.57 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rbp1 34
  • 75.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6191 34
zebrafish
(Danio rerio)
Actinopterygii rbp1b 35
  • 75 (a)
OneToMany
RBP1 (2 of 3) 35
  • 72 (a)
OneToMany
si:ch211-119o8.7 34
  • 71.21 (n)
rbp2b 35
  • 37 (a)
OneToMany
Dr.15881 34
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)

Paralogs for RBP1 Gene

Paralogs for RBP1 Gene

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

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

Variants for RBP1 Gene

Sequence variations from dbSNP and Humsavar for RBP1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs587783020 Uncertain significance 139,538,819(-) CAGGT(-/TGGGAAGGAGTTTG)AGGAG intron-variant, reference, frameshift-variant
rs1000057420 -- 139,534,419(+) GGGGA(C/G)AGAAC intron-variant
rs1000099263 -- 139,520,603(+) GACCC(A/G)GAAAT intron-variant
rs1000256353 -- 139,520,789(+) ATATT(A/G)GTCAG intron-variant
rs1000402166 -- 139,520,902(+) ATTAC(A/T)CTAGG intron-variant

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)

Relevant External Links for RBP1 Gene

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

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

Disorders for RBP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
blepharophimosis
  • blepharophimosis, ptosis, and epicanthus inversus
epithelioid cell melanoma
  • epithelioid melanoma
juxtacortical chondroma
  • periosteal chondroma
keratoacanthoma
renal-hepatic-pancreatic dysplasia
  • ivemark's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RBP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RBP1

Genetic Association Database (GAD)
RBP1
Human Genome Epidemiology (HuGE) Navigator
RBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBP1
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. Identification, retinoid binding and X-ray analysis of a human retinol-binding protein. (PMID: 11274389) Folli C. … Berni R. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 22 64
  2. 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. (Cytogenet. Cell Genet. 1998) 2 3 22 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations. (PMID: 21067480) Ksantini M. … Hamel C.P. (Ophthalmic Genet. 2010) 3 46 64
  5. Vinculin and cellular retinol-binding protein-1 are markers for quiescent and activated hepatic stellate cells in formalin-fixed paraffin embedded human liver. (PMID: 19052772) Van Rossen E. … Geerts A. (Histochem. Cell Biol. 2009) 3 22 64

Products for RBP1 Gene

Sources for RBP1 Gene

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