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

RBP7 Gene

protein-coding   GIFtS: 46
GCID: GC01P010057

retinol binding protein 7, cellular

 Explore 7 diseases affiliated with
RBP7 via our new
 Human Malady Compendium 
Biological research products
for RBP7
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Retinol Binding Protein 7, Cellular1 2     CRABP42 3
CRBPIV1 2     CRBP42 3
Cellular Retinoic Acid-Binding Protein 42 3     Putative Cellular Retinol-Binding Protein CRBP IV2
Cellular Retinoic Acid-Binding Protein IV2 3     Retinoid Binding Protein 72
CRABP-IV2 3     Retinoid-Binding Protein 72

External Ids:    HGNC: 303161   Entrez Gene: 1163622   Ensembl: ENSG000001624447   OMIM: 6086045   UniProtKB: Q96R053   

Export aliases for RBP7 gene to outside databases

Previous GC identifers: GC01P010018 GC01P009767 GC01P009991 GC01P009979 GC01P009212


(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 RBP7:
Due to its chemical instability and low solubility in aqueous solution, vitamin A requires cellular retinol-binding
proteins (CRBPs), such as RBP7, for stability, internalization, intercellular transfer, homeostasis, and
metabolism.(supplied by OMIM, May 2004)

UniProtKB/Swiss-Prot: RET7_HUMAN, Q96R05
Function: Intracellular transport of retinol




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_021937.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBP7 gene promoter:
         Elk-1   NF-1   Pax-5   NCX/Ncx   YY1   PPAR-alpha   AREB6   HEN1   Msx-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBP7 promoter sequence
   Search SABiosciences Chromatin IP Primers for RBP7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBP7


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

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

RBP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBP7 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P010057:  view genomic region     (about GC identifiers)

Start:
10,057,255 bp from pter      End:
10,076,078 bp from pter
Size:
18,824 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RET7_HUMAN, Q96R05 (See protein sequence)
Recommended Name: Retinoid-binding protein 7  
Size: 134 amino acids; 15536 Da
Subcellular location: Cytoplasm (By similarity)
1 PDB 3D structure from and Proteopedia for RBP7:
1LPJ (3D)    
Secondary accessions: B2R517 Q5SWJ4

Explore the universe of human proteins at neXtProt for RBP7: NX_Q96R05

RBP7 Protein expression data from MOPED and PaxDb:    About this image 
RBP7 Protein Expression

REFSEQ proteins: NP_443192.1  
ENSEMBL proteins: 
 ENSP00000324228   ENSP00000294435  

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Uscn Proteins for RBP7

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

RBP7 for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RBP7 for domains           About GeneDecksing

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

Graphical View of Domain Structure for InterPro Entry Q96R05

ProtoNet protein and cluster: Q96R05

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

UniProtKB/Swiss-Prot: RET7_HUMAN, Q96R05
Domain: Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior
Similarity: Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family


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

Molecular Function:

     UniProtKB/Swiss-Prot Summary: RET7_HUMAN, Q96R05
Function: Intracellular transport of retinol

     Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005215transporter activity IEA--
GO:0005501retinoid binding ----
GO:0016918retinal binding IEA--
GO:0019841retinol binding IEA--
     
RBP7 for ontologies           About GeneDecksing


Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rbp7):
 homeostasis/metabolism 

RBP7 for phenotypes           About GeneDecksing

Animal Models:
     Mouse knock-out Rbp7tm1Vgl for RBP7
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RBP7 

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Vitamin A and carotenoid metabolism
Vitamin A and carotenoid metabolism1.00


1 BioSystems Pathway for RBP7 
    Vitamin A and carotenoid metabolism


Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RBP7

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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Browse Tocris compounds for RBP7

1 DrugBank Compound for RBP7    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8carrier--15493015 17139284 17016423

Search CenterWatch for drugs/clinical trials and news about RBP7 / RET7 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RBP7 gene: 
NM_052960.2  

Unigene Cluster for RBP7:

Retinol binding protein 7, cellular
Hs.422688  [show with all ESTs]
Unigene Representative Sequence: BG218528
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000315901(uc001aqq.3 uc009vms.3) ENST00000294435

miRNA
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Inhib. RNA
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Additional cDNA sequence: 

AF399927.1 AK312027.1 AY145438.1 BC063013.1 

2 DOTS entries:

DT.206419  DT.97818274 

24/39 AceView cDNA sequences (see all 39):

BG198492 BC063013 BM091444 AL603589 BM142634 AF399927 BM091139 BG200083 
BC033883 AY145438 BM973611 AA502122 BM477848 AI791518 BG212598 NM_052960 
BI835720 AW448918 BG209962 BG204684 BG182975 BQ694038 BG213621 BM955928 

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

RBP7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGGCCCTAG
RBP7 Expression
About this image
See RBP7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RBP7

SOURCE GeneReport for Unigene cluster: Hs.422688

UniProtKB/Swiss-Prot: RET7_HUMAN, Q96R05
Tissue specificity: Expressed primarily in kidney, heart and transverse colon. Detected in adult lymph node, appendix,
ascending colon, and in fetal heart and spleen

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In Situ
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(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 RBP7 gene from 4/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves NMNAT16
Uncharacterized protein
35(a)
1 ↔ 1
21(3570285-3581255)
lizard
(Anolis carolinensis)
Reptilia RBP76
--
71(a)
1 ↔ 1
GL343709.1(191257-200466)
zebrafish
(Danio rerio)
Actinopterygii rbp7b1 retinol binding protein 7b, cellular 69.9(n)
67.91(a)
  569308  NM_001128750.1  NP_001122222.1 
fruit fly
(Drosophila melanogaster)
Insecta fabp6
fatty acid bindin protein
24(a)
possible ortholog
3R(7385612-7392771)


ENSEMBL Gene Tree for RBP7 (if available)
TreeFam Gene Tree for RBP7 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for RBP7 gene
FABP52  RBP52  FABP92  CRABP22  FABP122  FABP42  RBP12  FABP32  
CRABP12  RBP22  FABP22  PMP22  FABP72  
18/35 SIMAP similar genes for RBP7 using alignment to 3 protein entries:     RET7_HUMAN (see all proteins) (see all similar genes):
NRAMP1    C10orf137    TMEM14B    LINC00596    UTY    AURA2
TMEM135    c-myb    MYB    AGBL3    FAM175A    RBP1
C16orf89    RBP5    RBP2    NF2    DNAPTP3    GLT8D2

RBP7 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/365 NCBI SNPs in RBP7 are shown (see all 365    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1435676341,2
--10055265(+) ACCGCC/TGGCAA 1 -- us2k10--------
rs1468056191,2
--10055438(+) GGCAAC/TAGAGC 1 -- us2k10--------
rs1406223201,2
--10055514(+) GGGAAA/GCTTAG 1 -- us2k10--------
rs1456140071,2
--10055730(+) CTAGGC/TGACAG 1 -- us2k10--------
rs1876326521,2
--10055731(+) TAGGCA/GACAGA 1 -- us2k10--------
rs1925391111,2
--10055861(+) GCAGGC/TGAATC 1 -- us2k10--------
rs1138845351,2
--10055920(+) ATCTCC/TACTAA 1 -- us2k12Minor allele frequency- T:0.03CSA NA 121
rs1129780381,2
--10055935(+) ACAAAC/AAATTA 1 -- us2k11Minor allele frequency- A:0.00CSA 1
rs1856452411,2
--10056001(+) AGAATC/GACTTG 1 -- us2k10--------
rs1877623911,2
--10056018(+) GGAGGC/TGGAGG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for RBP7 (10057255 - 10076078 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for RBP7: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RBP7 for disorders           About GeneDecksing

OMIM gene information: 608604    OMIM disorders: --

7 diseases for RBP7:    About MalaCards
retinol binding protein    leber congenital amaurosis    nasopharyngitis    breast cancer
neuroblastoma    retinitis    carcinoma


Export disorders for RBP7 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)
About This Section

PubMed articles for RBP7 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with RBP7)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Ligand binding and structural analysis of a human putative cellular retinol-binding protein. (PubMed id 12177003)1, 2, 3 Folli C.... Berni R. (2002)
  2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
  5. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
  6. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
  7. CRBP-III:lacZ expression pattern reveals a novel heterogeneity of vascular endothelial cells. (PubMed id 15493015)7 Caprioli A....Sato T.N. (2004)
  8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
  9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  10. Epigenetic silencing of cellular retinol-binding proteins in nasopharyngeal carcinoma. (PubMed id 15720818)9 Kwong J....Huang D.P. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 116362 HGNC: 30316 AceView: RBP7 Ensembl:ENSG00000162444 euGenes: HUgn116362
ECgene: RBP7 H-InvDB: RBP7

(According to HUGE)
About This Section
  --

(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 RBP7 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for RBP7 gene:
Search GeneIP for patents involving RBP7

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section

 
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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VWF
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von Willebrand factor
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