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Aliases for RBP7 Gene

Aliases for RBP7 Gene

  • Retinol Binding Protein 7 2 3 5
  • Cellular Retinoic Acid-Binding Protein IV 3 4
  • Cellular Retinoic Acid-Binding Protein 4 3 4
  • Retinol Binding Protein 7, Cellular 2 3
  • Cellular Retinol Binding Protein 7 2 3
  • CRABP4 3 4
  • CRBP4 3 4
  • Putative Cellular Retinol-Binding Protein CRBP IV 3
  • Retinoid-Binding Protein 7 3
  • CRABP-IV 4
  • CRBPIV 3

External Ids for RBP7 Gene

Previous GeneCards Identifiers for RBP7 Gene

  • GC01P010018
  • GC01P009767
  • GC01P009991
  • GC01P009979
  • GC01P010057
  • GC01P009212

Summaries for RBP7 Gene

Entrez Gene Summary for RBP7 Gene

  • The protein encoded by this gene is a member of the cellular retinol-binding protein (CRBP) family, whose members are required for vitamin A stability and metabolism. The encoded protein binds all-trans-retinol and is structurally similar to other CRBPs; however, it has a lower binding affinity for retinol than other CRBPs. [provided by RefSeq, Aug 2016]

GeneCards Summary for RBP7 Gene

RBP7 (Retinol Binding Protein 7) is a Protein Coding gene. Diseases associated with RBP7 include Leber Congenital Amaurosis 9 and Leber Congenital Amaurosis. Among its related pathways are Vitamin A and Carotenoid Metabolism and Visual Cycle in Retinal Rods. GO annotations related to this gene include transporter activity and retinol binding. An important paralog of this gene is RBP2.

UniProtKB/Swiss-Prot for RBP7 Gene

  • Intracellular transport of retinol.

Additional gene information for RBP7 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBP7 Gene

Genomics for RBP7 Gene

Regulatory Elements for RBP7 Gene

Enhancers for RBP7 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
GH01H010507 2.6 Ensembl ENCODE dbSUPER 5.8 +515.5 515547 11 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 PGD NMNAT1 PEX14 ENSG00000271989 RBP7 GC01P010513 DFFA
GH01H010662 3.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 4.4 +679.3 679302 28 PKNOX1 FOXA2 ZFP64 ARID4B FEZF1 DMAP1 ZNF2 FOS SP5 MXD4 TARDBP ENSG00000226849 EXOSC10 C1orf127 DFFA PGD RBP7 CASZ1 GC01P010673
GH01H009369 1.7 VISTA Ensembl ENCODE dbSUPER 6.4 -623.6 -623574 8 CTCF ZFP64 ZMYM3 EBF1 ZNF507 ZFHX2 SCRT2 ZBTB20 RFX1 NRF1 MIR34A RBP7 ENSG00000284652 SPSB1
GH01H009990 0.8 Ensembl ENCODE 11.9 -6.2 -6197 1 BCOR ZNF3 SCRT2 ZMYM3 NR2F2 RBP7 UBE4B RN7SKP269 ENSG00000228150 NMNAT1 LZIC CTNNBIP1 ENSG00000241326
GH01H009712 1.6 Ensembl ENCODE dbSUPER 5.5 -281.0 -280951 8 HDGF PKNOX1 MLX ARNT ARID4B DMAP1 YY1 SLC30A9 ZNF766 CBX5 GPR157 RBP7 CLSTN1 PIK3CD-AS2 MZT1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBP7 on UCSC Golden Path with GeneCards custom track

Promoters for RBP7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000001220 403 801 CTCF MAZ SP3 KLF1 ZNF777 SUZ12 ZNF10 ZBTB8A ZNF560 ZFP69B

Genomic Location for RBP7 Gene

Chromosome:
1
Start:
9,997,197 bp from pter
End:
10,016,020 bp from pter
Size:
18,824 bases
Orientation:
Plus strand

Genomic View for RBP7 Gene

Genes around RBP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBP7 Gene

Proteins for RBP7 Gene

  • Protein details for RBP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96R05-RET7_HUMAN
    Recommended name:
    Retinoid-binding protein 7
    Protein Accession:
    Q96R05
    Secondary Accessions:
    • B2R517
    • Q5SWJ4

    Protein attributes for RBP7 Gene

    Size:
    134 amino acids
    Molecular mass:
    15536 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RBP7 Gene

neXtProt entry for RBP7 Gene

Post-translational modifications for RBP7 Gene

No Post-translational modifications

Other Protein References for RBP7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBP7 Gene

Domains & Families for RBP7 Gene

Gene Families for RBP7 Gene

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

Suggested Antigen Peptide Sequences for RBP7 Gene

Graphical View of Domain Structure for InterPro Entry

Q96R05

UniProtKB/Swiss-Prot:

RET7_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 RBP7: view

Function for RBP7 Gene

Molecular function for RBP7 Gene

UniProtKB/Swiss-Prot Function:
Intracellular transport of retinol.

Phenotypes From GWAS Catalog for RBP7 Gene

Gene Ontology (GO) - Molecular Function for RBP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005501 retinoid binding IEA --
GO:0005515 protein binding IPI 25814554
GO:0008289 lipid binding IEA --
GO:0016918 retinal binding IEA --
genes like me logo Genes that share ontologies with RBP7: view
genes like me logo Genes that share phenotypes with RBP7: view

Animal Models for RBP7 Gene

MGI Knock Outs for RBP7:

Animal Model Products

  • Taconic Biosciences Mouse Models for RBP7

CRISPR Products

miRNA for RBP7 Gene

miRTarBase miRNAs that target RBP7

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RBP7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBP7 Gene

Localization for RBP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBP7 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 RBP7 gene
Compartment Confidence
cytosol 4
nucleus 3
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nuclear speckles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with RBP7: view

Pathways & Interactions for RBP7 Gene

genes like me logo Genes that share pathways with RBP7: view

Pathways by source for RBP7 Gene

1 BioSystems pathway for RBP7 Gene
1 Qiagen pathway for RBP7 Gene

Gene Ontology (GO) - Biological Process for RBP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with RBP7: view

No data available for SIGNOR curated interactions for RBP7 Gene

Drugs & Compounds for RBP7 Gene

(1) Drugs for RBP7 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Carrier 511
genes like me logo Genes that share compounds with RBP7: view

Transcripts for RBP7 Gene

mRNA/cDNA for RBP7 Gene

Unigene Clusters for RBP7 Gene

Retinol binding protein 7, cellular:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RBP7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RBP7 Gene

No ASD Table

Relevant External Links for RBP7 Gene

GeneLoc Exon Structure for
RBP7
ECgene alternative splicing isoforms for
RBP7

Expression for RBP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBP7 Gene

mRNA differential expression in normal tissues according to GTEx for RBP7 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x8.0), Adipose - Subcutaneous (x7.1), and Breast - Mammary Tissue (x6.6).

Protein differential expression in normal tissues from HIPED for RBP7 Gene

This gene is overexpressed in Adrenal (42.6) and Nasopharynx (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RBP7 Gene



NURSA nuclear receptor signaling pathways regulating expression of RBP7 Gene:

RBP7

SOURCE GeneReport for Unigene cluster for RBP7 Gene:

Hs.422688

mRNA Expression by UniProt/SwissProt for RBP7 Gene:

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

Evidence on tissue expression from TISSUES for RBP7 Gene

  • Nervous system(4.3)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with RBP7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBP7 Gene

Orthologs for RBP7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RBP7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBP7 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia RBP7 33 34
  • 90.99 (n)
cow
(Bos Taurus)
Mammalia RBP7 33 34
  • 90.55 (n)
mouse
(Mus musculus)
Mammalia Rbp7 33 16 34
  • 87.06 (n)
rat
(Rattus norvegicus)
Mammalia Rbp7 33
  • 85.57 (n)
oppossum
(Monodelphis domestica)
Mammalia RBP7 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBP7 33 34
  • 75.87 (n)
lizard
(Anolis carolinensis)
Reptilia RBP7 34
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rbp7b 33 34
  • 69.9 (n)
rbp7a 34
  • 59 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9113 33
Species where no ortholog for RBP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RBP7 Gene

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

Paralogs for RBP7 Gene

Paralogs for RBP7 Gene

genes like me logo Genes that share paralogs with RBP7: view

Variants for RBP7 Gene

Sequence variations from dbSNP and Humsavar for RBP7 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000023223 -- 9,996,037(+) CCGGG(C/T)GCAGT intron-variant, upstream-variant-2KB
rs1000583112 -- 10,006,422(+) GGAGA(A/C)TCACT intron-variant
rs1000697610 -- 10,006,108(+) TCTAG(C/G)TACAT intron-variant
rs1000766994 -- 10,012,563(+) AAAGC(A/G)GGAAG intron-variant
rs1000826839 -- 10,002,177(+) TTGCC(C/T)TGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RBP7 Gene

Variant ID Type Subtype PubMed ID
esv2664618 CNV deletion 23128226
esv2667343 CNV deletion 23128226
esv2671412 CNV deletion 23128226
esv3336969 CNV insertion 20981092
esv3585192 CNV loss 21293372
esv3585193 CNV loss 21293372
esv3585194 CNV loss 21293372
nsv1001742 CNV gain 25217958

Variation tolerance for RBP7 Gene

Residual Variation Intolerance Score: 68.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBP7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBP7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBP7 Gene

Disorders for RBP7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RBP7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leber congenital amaurosis 9
  • lca9
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards
Search RBP7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RBP7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBP7
genes like me logo Genes that share disorders with RBP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBP7 Gene

Publications for RBP7 Gene

  1. Ligand binding and structural analysis of a human putative cellular retinol-binding protein. (PMID: 12177003) Folli C … Berni R (The Journal of biological chemistry 2002) 2 3 4 60
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 60
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3 60

Products for RBP7 Gene

Sources for RBP7 Gene

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