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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RBP1 Gene

protein-coding   GIFtS: 60
GCID: GC03M139236

Retinol Binding Protein 1, Cellular

(Previous names: retinol-binding protein 1, cellular)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Retinol Binding Protein 1, Cellular1 2     CRABP-I2
Retinol-Binding Protein 1, Cellular1 2     CRBPI2
Cellular Retinol-Binding Protein I2 3     RBPC2
CRBP2 3     Retinol-Binding Protein 12
CRBP-I2 3     Cellular Retinol-Binding Protein3
CRBP12 3     C5

External Ids:    HGNC: 99191   Entrez Gene: 59472   Ensembl: ENSG000001141157   OMIM: 1802605   UniProtKB: P094553   

Export aliases for RBP1 gene to outside databases

Previous GC identifers: GC03M136134 GC03M140065 GC03M140517 GC03M140557 GC03M140718 GC03M136611


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, cellular) is a protein-coding gene. Diseases associated with RBP1 include blepharophimosis, ptosis, and epicanthus inversus syndrome, and seborrheic keratosis, and among its related super-pathways are the visual cycle I (vertebrates) and Visual phototransduction. GO annotations related to this gene include retinal binding and transporter activity. An important paralog of this gene is FABP5.

UniProtKB/Swiss-Prot: RET1_HUMAN, P09455
Function: Intracellular transport of retinol

Gene Wiki entry for RBP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBP1 gene promoter:
         Elk-1   p53   MAZR   p300   RelA   Nkx2-5   FOXC1   POU2F1   POU2F1a   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q23   Ensembl cytogenetic band:  3q23   HGNC cytogenetic band: 3q21-q23

RBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBP1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M139236:  view genomic region     (about GC identifiers)

Start:
139,236,276 bp from pter      End:
139,258,671 bp from pter
Size:
22,396 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RET1_HUMAN, P09455 (See protein sequence)
Recommended Name: Retinol-binding protein 1  
Size: 135 amino acids; 15850 Da
Subcellular location: Cytoplasm
Secondary accessions: A8K2Q0 B7Z7A0 E7EWV0 F2Z2F2 Q6FGX8
Alternative splicing: 3 isoforms:  P09455-1   P09455-2   P09455-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RBP1: NX_P09455

Explore proteomics data for RBP1 at MOPED 

RBP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

RBP1 Protein Expression

REFSEQ proteins (3 alternative transcripts): 
NP_001124464.1  NP_001124465.1  NP_002890.2  

ENSEMBL proteins: 
 ENSP00000232219   ENSP00000424813   ENSP00000427492   ENSP00000429166  
Reactome Protein details: P09455
Human Recombinant Protein Products for RBP1: 
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Novus Biologicals RBP1 Lysate
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Browse Sino Biological Cell Lysates 
ProSpec Recombinant Protein for RBP1
Cloud-Clone Corp. Proteins for RBP1 

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005829cytosol TAS--
GO:0044297cell body ----

RBP1 for ontologies           About GeneDecksing



RBP1 Antibody Products: 
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Cloud-Clone Corp. CLIAs for RBP1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
FABP: Fatty acid binding protein family

4 InterPro protein domains:
 IPR012674 Calycin
 IPR011038 Calycin-like
 IPR000463 Fatty_acid-bd
 IPR000566 Lipocln_cytosolic_FA-bd_dom

Graphical View of Domain Structure for InterPro Entry P09455

ProtoNet protein and cluster: P09455

1 Blocks protein domain: IPB000463 Cytosolic fatty-acid binding protein

UniProtKB/Swiss-Prot: RET1_HUMAN, P09455
Domain: Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior (By similarity)
Similarity: Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family


RBP1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: RET1_HUMAN, P09455
Function: Intracellular transport of retinol

     Genatlas biochemistry entry for RBP1:
retinol binding protein 1,cellular (lipocalin family,Kernel group),monomer,essential for vitamin A homeostasis

     Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005215transporter activity IEA--
GO:0005501retinoid binding TAS3472205
GO:0008289lipid binding ----
GO:0016918retinal binding IEA--
GO:0019841retinol binding IEA--
     
RBP1 for ontologies           About GeneDecksing


Phenotypes:
     11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rbp1):
 endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
 immune system  liver/biliary system  nervous system  pigmentation  reproductive system 
 vision/eye 

RBP1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Rbp1tm1Ipc for RBP1

   inGenious Targeting Laboratory - Custom generated mouse model solutions for RBP1 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RBP1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBP1 
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miRNA
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Inhib. RNA
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Gene Editing
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Clone
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Sino Biological Human cDNA Clone for RBP1
DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBP1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBP1
Sirion Biotech Customized lentivirus for stable overexpression of RBP1 
                     Customized lentivirus expression plasmids for stable overexpression of RBP1 

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBP1


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for RBP1 About   (see all 9)                                                                                              See pathways by source

SuperPathContained pathways About
1the visual cycle I (vertebrates)
the visual cycle I (vertebrates)0.52
The canonical retinoid cycle in rods (twilight vision)0.50
retinol biosynthesis0.52
2Visual phototransduction
Visual phototransduction0.48
Diseases associated with visual transduction0.47
Retinoid metabolism and transport0.48
3retinoate biosynthesis II
retinoate biosynthesis I0.38
retinoate biosynthesis II0.38
4Signaling by GPCR
Signal Transduction0.55
5The retinoid cycle in cones (daylight vision)
Retinoid cycle disease events0.36

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RBP1
    Visual Cycle in Retinal Rods

5/6 BioSystems Pathways for RBP1 (see all 6)
    Vitamin A and carotenoid metabolism
Retinoic acid receptors-mediated signaling
retinoate biosynthesis I
retinol biosynthesis
the visual cycle I (vertebrates)


5/7        Reactome Pathways for RBP1 (see all 7)
    Diseases associated with visual transduction
Retinoid cycle disease events
Retinoid metabolism and transport
Signal Transduction
The canonical retinoid cycle in rods (twilight vision)



RBP1 for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/16 Interacting proteins for RBP1 (P094553 ENSP000002322194) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
InteractantInteraction Details
GeneCardExternal ID(s)
SAP30O754463, ENSP000002965044I2D: score=3 STRING: ENSP00000296504
LRP2P981643, ENSP000002638164I2D: score=2 STRING: ENSP00000263816
RBBP4Q090283, ENSP000003625924I2D: score=2 STRING: ENSP00000362592
BRMS1Q9HCU93, ENSP000003960524I2D: score=1 STRING: ENSP00000396052
LRATO952373, ENSP000003372244I2D: score=1 STRING: ENSP00000337224
About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001523retinoid metabolic process TAS--
GO:0002138retinoic acid biosynthetic process ----
GO:0006776vitamin A metabolic process TAS3472205
GO:0007603phototransduction, visible light TAS--
GO:0030852regulation of granulocyte differentiation ----

RBP1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RBP1 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RBP1 (RET1)

2 DrugBank Compounds for RBP1    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--15994349 15951260 16011460 16156801 16157297
Acitretin-- 55079-83-9targetagonist8375617

10/25 Novoseek inferred chemical compound relationships for RBP1 gene (see all 25)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
vitamin a 91.6 514 9147140 (10), 7835405 (10), 7744071 (8), 8463337 (6) (see all 99)
retinoid 87.8 49 7744071 (3), 10506831 (2), 7586162 (2), 12153175 (2) (see all 30)
retinaldehyde 87.1 19 19250215 (3), 8440409 (1), 10559215 (1), 10800207 (1) (see all 6)
retinoic acid 86.1 197 7615982 (9), 19250215 (4), 9858140 (4), 12153175 (4) (see all 68)
retinyl ester 79.5 14 7864119 (3), 8228637 (1), 9147140 (1), 8914940 (1) (see all 6)
9-cis-retinol 70.9 1 11360992 (1)
11-cis-retinol 61.6 2 15928609 (1)
n-(4-hydroxyphenyl)retinamide 56.9 1 7744071 (1)
isoprene 53.7 1 7744071 (1)
nad+ 51.1 1 18569334 (1)

Search CenterWatch for drugs/clinical trials and news about RBP1 / RET1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RBP1 gene (3 alternative transcripts): 
NM_001130992.1  NM_001130993.1  NM_002899.3  

Unigene Cluster for RBP1:

Retinol binding protein 1, cellular
Hs.529571  [show with all ESTs]
Unigene Representative Sequence: AK309492
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000474490 ENST00000232219(uc003eti.2) ENST00000483943(uc011bmx.2)
ENST00000487424(uc010huj.3) ENST00000492918(uc011bmy.2)
miRNA
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Inhib. RNA
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                     Customized lentivirus expression plasmids for stable overexpression of RBP1 
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RBP1

Additional mRNA sequence: 

AK290315.1 AK301684.1 AK307378.1 AK309492.1 BC121052.2 CR541979.1 CR542005.1 M11433.1 
M36809.1 

7 DOTS entries:

DT.100776630  DT.99955551  DT.97788656  DT.100776631  DT.316267  DT.95069622  DT.421579 

24/213 AceView cDNA sequences (see all 213):

BM707739 AW189399 BU740318 CR542005 BM667492 CA848594 BE383317 BM984614 
CA440876 AA972852 BE263795 CF528961 AI141677 CF528492 CA848447 BE673460 
AI078619 AA129681 AI972574 BQ581751 BX357590 BE264410 BE264353 AW160737 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RBP1 expression in normal human tissues (normalized intensities)      RBP1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CCAATAAAGT
RBP1 Expression
About this image


RBP1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/29 selected tissues (see all 29) fully expand
 
 Brain (Nervous System)    fully expand to see all 23 entries
         Caudal Ganglionic Eminence Progenitor Cells Caudal Ganglionic Eminence
         Thalamus
         Human Cerebellar Astrocytes   
         Septum   
 
 Uncategorized (Uncategorized)    fully expand to see all 6 entries
         PureStem Progenitor EN7
 
 Liver (Hepatobiliary System)    fully expand to see all 5 entries
         Hepatic Stellate Cells Sinusoids
         Human Mesenchymal Stem Cell-hepatic (HMSC-he)   
 
 Kidney (Urinary System)    fully expand to see all 4 entries
         Presumptive Podocytes Podocyte Layer
         Metanephros
         Human Renal Mesangial Cells (HRMC)   
 
 Neural Tube (Nervous System)    fully expand to see all 4 entries
         Caudal Ganglionic Eminence Progenitor Cells Caudal Ganglionic Eminence
         Telencephalon

See RBP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RBP1

SOURCE GeneReport for Unigene cluster: Hs.529571

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

    SABiosciences Expression via Pathway-Focused PCR Arrays including RBP1: 
          Lymphoma in human mouse rat
          Prostate Cancer in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for RBP1
OriGene qSTAR qPCR primer pairs in human, mouse for RBP1
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RBP1
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RBP1
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RBP1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBP1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for RBP1 gene from 6/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Rbp11 , 5 retinol binding protein 1, cellular1, 5 90.55(n)1
97.01(a)1
  9 (51.36 cM)5
196591  NM_011254.51  NP_035384.11 
 984229615 
chicken
(Gallus gallus)
Aves RBP11 retinol binding protein 1, cellular 74.57(n)
85.19(a)
  424821  XM_422635.2  XP_422635.1 
African clawed frog
(Xenopus laevis)
Amphibia Xl.61912 Xenopus laevis transcribed sequence with moderate similarity more 76.92(n)    48019930 
zebrafish
(Danio rerio)
Actinopterygii Dr.158812 Transcribed sequence with moderate similarity to protein more 71.93(n)    BM530104.1 
fruit fly
(Drosophila melanogaster)
Insecta fabp6
fatty acid bindin protein
25(a)
1 → many
3R(7385612-7392771)
worm
(Caenorhabditis elegans)
Secernentea lbp-86
lbp-66
(see all 5)
Fatty acid-binding protein homolog 6
(see all 5)
33(a)
33(a)
(see all 5)
many ↔ many
many ↔ many
(see all 5)
V(13890700-13891362)
I(6728285-6729378)


ENSEMBL Gene Tree for RBP1 (if available)
TreeFam Gene Tree for RBP1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for RBP1 gene
FABP52  RBP52  FABP92  CRABP22  FABP122  FABP42  FABP32  RBP22  
CRABP12  FABP22  PMP22  FABP72  RBP72  
14 SIMAP similar genes for RBP1 using alignment to 2 protein entries:     RET1_HUMAN (see all proteins):
RBP5    RBP7    DKFZp547J2313    FABP7    RBP2    CRABP1
CRABP2    FABP4    FABP5    PMP2    FABP3    FABP9
FABP12    FABP2

RBP1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/413 SNPs in RBP1 are shown (see all 413)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 3 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1146346581,2
C--139235803(+) GGTGGA/TTGGTC 1 -- int10--------
rs1445446401,2
--139235955(+) TACTGG/TGCAGT 1 -- int10--------
rs1484321781,2
C--139235995(+) CTAGGA/GTGGAA 1 -- int10--------
rs1438192401,2
C--139236311(+) ATGGC-/TTTGT 
        
TTTAA
1 -- ut310--------
rs2012597091,2
--139236451(+) GGACAA/GGGTTG 1 -- ut310--------
rs1131880161,2
C--139236524(+) TCTCCA/TGAAAC 1 -- spa11Minor allele frequency- T:0.00CSA 1
rs2007018711,2
--139236572(+) ACTTAC/TGGCAA 1 -- int10--------
rs1482803161,2
C--139236602(+) GGCTG-/GTTTATT 1 -- int10--------
rs1418393261,2
C--139236605(+) TGTTA-/TTTTTT 1 -- int10--------
rs20713881,2
C,F,A,H--139236683(-) GTAGGG/ATGCTG 1 -- int115Minor allele frequency- A:0.29NS EA NA WA CSA 783

HapMap Linkage Disequilibrium report for RBP1 (139236276 - 139258671 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for RBP1:    About this table     
Variant IDTypeSubtypePubMed ID
nsv877543CNV Gain21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 180260    OMIM disorders: --

20/42 diseases for RBP1 (see all 42):    About MalaCards
blepharophimosis, ptosis, and epicanthus inversus syndrome    seborrheic keratosis    blepharophimosis    uterine fibroid
fetal alcohol syndrome    keratoacanthoma    alcoholism    leiomyoma
maturity-onset diabetes of the young    keratosis    endometrial adenocarcinoma    cervical intraepithelial neoplasia
acute promyelocytic leukemia    laryngeal squamous cell carcinoma    leiomyosarcoma    non-small cell lung carcinoma
endometrial carcinoma    basal cell carcinoma    teratocarcinoma    esophageal squamous cell carcinoma


RBP1 for disorders           About GeneDecksing

10/22 Novoseek inferred disease relationships for RBP1 gene (see all 22)    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
epicanthus 54.5 2 9727204 (1)
blepharophimosis 49.7 2 9727204 (1)
carcinoma endometrioid 36.9 5 16575402 (4), 15500655 (1)
endometrial hyperplasia 36.8 3 16575402 (2), 15500655 (1)
squamous cell cancer 24.1 2 1329518 (1)
ovarian carcinoma 20.8 2 12631600 (2)
hyperpigmentation 16.3 1 9858140 (1)
tumors 12.2 27 12631600 (3), 12384555 (3), 16575402 (3), 12883492 (2) (see all 14)
ovarian cancer 11.3 15 12631600 (4), 11879576 (3), 19110304 (2)
breast cancer 11 27 15113415 (8), 10716965 (2), 8801168 (2), 11704871 (2) (see all 8)

Genetic Association Database (GAD): RBP1
Human Genome Epidemiology (HuGE) Navigator: RBP1 (5 documents)

Export disorders for RBP1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for RBP1 gene, integrated from 9 sources (see all 227):
(articles sorted by number of sources associating them with RBP1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (PubMed id 9858824)1, 3, 9 De Baere E....Messiaen L. (1998)
  2. Identification, retinoid binding and X-ray analysis of a human retinol-binding protein. (PubMed id 11274389)1, 2, 9 Folli C.... Berni R. (2001)
  3. Screening genes of the visual cycle RGR, RBP1 and RBP 3 identifies rare sequence variations. (PubMed id 21067480)1, 4 Ksantini M....Hamel C.P. (2010)
  4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
  5. Molecular cloning of two human cellular retinoic acid-binding proteins (CRABP). Retinoic acid-induced expression of CRABP-II but not CRABP-I in adult human skin in vivo and in skin fibroblasts in vitro. (PubMed id 1654334)1, 3 Astroem A....Voorhees J.J. (1991)
  6. Human cellular retinol-binding protein gene organization and chromosomal location. (PubMed id 3356192)1, 2 Nilsson M.H.L.... Peterson P.A. (1988)
  7. Cellular retinoic acid- and cellular retinol-binding proteins: complementary deoxyribonucleic acid cloning, chromosomal assignment, and tissue specific expression. (PubMed id 2856408)1, 2 Wei L.-N.... Nguyen-Huu M.C. (1987)
  8. Cloning and sequencing of a full length cDNA corresponding to human cellular retinol-binding protein. (PubMed id 2992469)1, 2 Colantuoni V.... Sundelin J. (1985)
  9. Cellular retinol-binding protein-1 in hepatocellular carcinoma correlates with beta-catenin, Ki-67 index, and patient survival. (PubMed id 12883492)1, 9 Schmitt-Graff A....Blum H.E. (2003)
  10. Cellular retinol-binding protein-1 expression in normal and fibrotic/cirrhotic human liver: different patterns of expression in hepatic stellate cells and (myo)fibroblast subpopulations. (PubMed id 15094224)1, 9 Lepreux S....Desmouliere A. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5947 HGNC: 9919 AceView: RBP1 Ensembl:ENSG00000114115 euGenes: HUgn5947
ECgene: RBP1 H-InvDB: RBP1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for RBP1 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RBP1 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for RBP1 gene:
Search GeneIP for patents involving RBP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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