REP15 Gene (Protein Coding)

RAB15 Effector Protein

GC12P027696
GIFtS:
30
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] See more...

Aliases for REP15 Gene

Aliases for REP15 Gene

  • RAB15 Effector Protein 2 3 5
  • Rab15 Effector Protein 3 4
  • RAB15EP 2 3
  • REP15 5

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 Summary for REP15 Gene

  • Regulates transferrin receptor recycling from the endocytic recycling compartment.

Additional gene information for REP15 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for REP15 Gene

Genomics for REP15 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for REP15 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around REP15 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for REP15

Top Transcription factor binding sites by QIAGEN in the REP15 gene promoter:
  • ATF6
  • CBF(2)
  • GCNF
  • GCNF-1
  • GCNF-2
  • NF-Y
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • ZIC2

Genomic Locations for REP15 Gene

Latest Assembly
chr12:27,696,447-27,697,596
(GRCh38/hg38)
Size:
1,150 bases
Orientation:
Plus strand

Previous Assembly
chr12:27,849,380-27,850,529
(GRCh37/hg19 by Entrez Gene)
Size:
1,150 bases
Orientation:
Plus strand

chr12:27,849,428-27,850,566
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for REP15 Gene

Proteins for REP15 Gene

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  3. Assay products for research

  • 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

Protein Expression for REP15 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Gene Families for REP15 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for REP15 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for REP15 Gene

GenScript: Design optimal peptide antigens:
  • Rab15 effector protein (REP15_HUMAN)
genes like me logo Genes that share domains with REP15: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for REP15 Gene

Function for REP15 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for REP15 Gene

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

Phenotypes From GWAS Catalog for REP15 Gene

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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REP15

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
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
plasma membrane 0
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for REP15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0010008 endosome membrane IBA,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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for REP15 Gene

Pathways & Interactions for REP15 Gene

PathCards logo

SuperPathways for REP15 Gene

No Data Available

Gene Ontology (GO) - Biological Process for REP15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling IBA,IMP 16195351
GO:0033572 transferrin transport IBA,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

Products:

  1. Drug products for research

(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

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mRNA/cDNA for REP15 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REP15

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

No ASD Table

Relevant External Links for REP15 Gene

GeneLoc Exon Structure for
REP15

Expression for REP15 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for REP15 Gene
mRNA expression by GTEx for REP15 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

No data available for 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 30 31
  • 99.58 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia REP15 30
  • 88.14 (n)
Cow
(Bos Taurus)
 Mammalia REP15 30 31
  • 84.48 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Rep15 30 17 31
  • 79.28 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rep15 30
  • 79.13 (n)
Lizard
(Anolis carolinensis)
 Reptilia REP15 31
  • 53 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia rep15 30
  • 59.1 (n)
Species where no ortholog for REP15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for REP15: view image

Paralogs for REP15 Gene

No data available for Paralogs for REP15 Gene

Variants for REP15 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for REP15 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs12819160 - p.Glu206Asp
rs929949 - p.Asn101Asp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for REP15 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for REP15 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for REP15 Gene

Additional Disease Information for REP15

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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 DJ … Elferink LA (Molecular biology of the cell 2005) 2 3 4 23
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. (PMID: 28625976) Hou P … Huang J (Cancer research 2017) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Image-based genome-wide siRNA screen identifies selective autophagy factors. (PMID: 22020285) Orvedahl A … Levine B (Nature 2011) 3

ExternalLinks

View latest publications for REP15 gene in Mastermind

Products for REP15 Gene

Sources for REP15 Gene