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Aliases for REP15 Gene

Aliases for REP15 Gene

  • RAB15 Effector Protein 2 3 5
  • RAB15EP 3

External Ids for REP15 Gene

Previous GeneCards Identifiers for REP15 Gene

  • GC12P027742
  • GC12P027849
  • GC12P027618

Summaries for REP15 Gene

Entrez Gene Summary for REP15 Gene

  • The protein encoded by this intronless gene interacts with GTP-bound Rab15 and is involved in recycling of transferrin receptor from the endocytic recycling compartment to the cell surface. [provided by RefSeq, Sep 2016]

GeneCards Summary for REP15 Gene

REP15 (RAB15 Effector Protein) is a Protein Coding gene.

UniProtKB/Swiss-Prot for REP15 Gene

  • Regulates transferrin receptor recycling from the endocytic recycling compartment.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REP15 Gene

Genomics for REP15 Gene

Regulatory Elements for REP15 Gene

Enhancers for REP15 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
GH12G027613 1.4 Ensembl ENCODE dbSUPER 11.1 -79.1 -79149 6.9 PKNOX1 KLF17 SIN3A FEZF1 GATA2 ZNF366 ZSCAN5C SCRT2 RCOR1 FOS SMCO2 ARNTL2-AS1 REP15 PPFIBP1 ENSG00000256377 ENSG00000256557 GC12P027690
GH12G027622 1.3 Ensembl ENCODE dbSUPER 10.8 -73.1 -73055 2.7 ZFP64 ZNF140 ZNF266 ZNF101 ZNF697 E2F1 ZNF121 CTBP1 GATA3 FOSL2 LOC729222 MED21 SMCO2 REP15 C12orf71 ENSG00000256557 GC12P027690
GH12G028126 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.4 +433.1 433100 6.8 HDGF ATF1 CREB3L1 ARNT SIN3A TCF12 ZNF766 ELK1 GATA2 FOS STK38L CCDC91 REP15 PTHLH LOC105369710
GH12G027695 1 Ensembl ENCODE 0.7 +0.5 463 2.0 SOX13 FOXA2 MAX CEBPG ZNF384 ZSCAN9 KAT2B NCOR1 HNF4G CREM MANSC4 KLHL42 ENSG00000276261 REP15
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around REP15 on UCSC Golden Path with GeneCards custom track

Genomic Location for REP15 Gene

Chromosome:
12
Start:
27,696,495 bp from pter
End:
27,697,633 bp from pter
Size:
1,139 bases
Orientation:
Plus strand

Genomic View for REP15 Gene

Genes around REP15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REP15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REP15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REP15 Gene

Proteins for REP15 Gene

  • Protein details for REP15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6BDI9-REP15_HUMAN
    Recommended name:
    Rab15 effector protein
    Protein Accession:
    Q6BDI9
    Secondary Accessions:
    • B2RU16

    Protein attributes for REP15 Gene

    Size:
    236 amino acids
    Molecular mass:
    26571 Da
    Quaternary structure:
    • Interacts with the GTP-bound form of RAB15.
    SequenceCaution:
    • Sequence=AAT76304.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

neXtProt entry for REP15 Gene

Post-translational modifications for REP15 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for REP15 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for REP15 Gene

Domains & Families for REP15 Gene

Protein Domains for REP15 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for REP15 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with REP15: view

No data available for Gene Families and UniProtKB/Swiss-Prot for REP15 Gene

Function for REP15 Gene

Molecular function for REP15 Gene

UniProtKB/Swiss-Prot Function:
Regulates transferrin receptor recycling from the endocytic recycling compartment.

Gene Ontology (GO) - Molecular Function for REP15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16195351
genes like me logo Genes that share ontologies with REP15: view
genes like me logo Genes that share phenotypes with REP15: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for REP15 Gene

Localization for REP15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REP15 Gene

Early endosome membrane. Note=Colocalizes with RAB11 and RAB15 to the endocytic recycling compartment.

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 REP15 gene
Compartment Confidence
endosome 5
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for REP15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0010008 endosome membrane IDA 16195351
GO:0016020 membrane IEA --
GO:0031901 early endosome membrane IEA --
GO:0048471 perinuclear region of cytoplasm IDA 16195351
genes like me logo Genes that share ontologies with REP15: view

Pathways & Interactions for REP15 Gene

SuperPathways for REP15 Gene

No Data Available

Interacting Proteins for REP15 Gene

Selected Interacting proteins: Q6BDI9-REP15_HUMAN for REP15 Gene via IID

Symbol External ID(s) Details
RAB15

Gene Ontology (GO) - Biological Process for REP15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling IMP 16195351
GO:0033572 transferrin transport IDA 16195351
genes like me logo Genes that share ontologies with REP15: view

No data available for Pathways by source and SIGNOR curated interactions for REP15 Gene

Drugs & Compounds for REP15 Gene

(1) Drugs for REP15 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with REP15: view

Transcripts for REP15 Gene

mRNA/cDNA for REP15 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for REP15 Gene

RAB15 effector protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for REP15 Gene

No ASD Table

Relevant External Links for REP15 Gene

GeneLoc Exon Structure for
REP15
ECgene alternative splicing isoforms for
REP15

Expression for REP15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for REP15 Gene

mRNA differential expression in normal tissues according to GTEx for REP15 Gene

This gene is overexpressed in Colon - Transverse (x13.0) and Stomach (x8.4).

Protein differential expression in normal tissues from HIPED for REP15 Gene

This gene is overexpressed in Fetal Brain (31.4), Monocytes (15.1), Frontal cortex (10.4), and CD4 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for REP15 Gene



NURSA nuclear receptor signaling pathways regulating expression of REP15 Gene:

REP15

SOURCE GeneReport for Unigene cluster for REP15 Gene:

Hs.269836
genes like me logo Genes that share expression patterns with REP15: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for REP15 Gene

Orthologs for REP15 Gene

This gene was present in the common ancestor of chordates.

Orthologs for REP15 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia REP15 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia REP15 34
  • 88.14 (n)
cow
(Bos Taurus)
Mammalia REP15 34 35
  • 84.48 (n)
mouse
(Mus musculus)
Mammalia Rep15 34 16 35
  • 79.28 (n)
rat
(Rattus norvegicus)
Mammalia Rep15 34
  • 79.13 (n)
lizard
(Anolis carolinensis)
Reptilia REP15 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rep15 34
  • 59.1 (n)
Species where no ortholog for REP15 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for REP15 Gene

ENSEMBL:
Gene Tree for REP15 (if available)
TreeFam:
Gene Tree for REP15 (if available)

Paralogs for REP15 Gene

No data available for Paralogs for REP15 Gene

Variants for REP15 Gene

Sequence variations from dbSNP and Humsavar for REP15 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000292166 -- 27,695,265(+) GTACC(C/T)GCCAC intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1002957214 -- 27,696,892(+) GCAGT(A/G)CAGAC intron-variant, reference, synonymous-codon
rs1003544705 -- 27,697,752(+) GCTTA(C/T)GCCTA intron-variant, downstream-variant-500B
rs1003596963 -- 27,697,976(+) TAGCT(G/T)CTGTC intron-variant, downstream-variant-500B
rs1004034352 -- 27,696,200(+) AAAAG(A/G)ACTAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for REP15 Gene

Variant ID Type Subtype PubMed ID
esv2745664 CNV deletion 23290073
esv2761729 CNV gain 21179565
nsv469178 CNV gain 19166990
nsv557823 CNV gain 21841781
nsv832358 CNV gain 17160897

Variation tolerance for REP15 Gene

Residual Variation Intolerance Score: 54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.26; 62.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for REP15 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
REP15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REP15 Gene

Disorders for REP15 Gene

Relevant External Links for REP15

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
REP15

No disorders were found for REP15 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for REP15 Gene

Publications for REP15 Gene

  1. Rab15 effector protein: a novel protein for receptor recycling from the endocytic recycling compartment. (PMID: 16195351) Strick D.J. … Elferink L.A. (Mol. Biol. Cell 2005) 2 3 4 22 64
  2. Image-based genome-wide siRNA screen identifies selective autophagy factors. (PMID: 22020285) Orvedahl A. … Levine B. (Nature 2011) 3 64
  3. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer S.E. … Gibbs R.A. (Nature 2006) 4 64
  4. Functional properties of rab15 effector protein in endocytic recycling. (PMID: 16473635) Elferink L.A. … Strick D.J. (Meth. Enzymol. 2005) 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for REP15 Gene

Sources for REP15 Gene

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