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REP15 RAB15 effector protein [ Homo sapiens (human) ]

Gene ID: 387849, updated on 5-Mar-2024

Summary

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Official Symbol
REP15provided by HGNC
Official Full Name
RAB15 effector proteinprovided by HGNC
Primary source
HGNC:HGNC:33748
See related
Ensembl:ENSG00000174236 MIM:610848; AllianceGenome:HGNC:33748
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAB15EP
Summary
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]
Orthologs
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Genomic context

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Location:
12p11.22
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (27696447..27697596)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (27568182..27569331)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (27849380..27850529)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene single-pass membrane protein with coiled-coil domains 2 Neighboring gene arginyl-tRNA synthetase 1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:27675956-27676557 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27677161-27677761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6146 Neighboring gene PPFIA binding protein 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:27701742-27702941 Neighboring gene Sharpr-MPRA regulatory region 6326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4312 Neighboring gene chromosome 12 open reading frame 71B, pseudogene Neighboring gene MRPS35 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:27857921-27858432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6149 Neighboring gene high mobility group box 1 pseudogene 49 Neighboring gene mitochondrial ribosomal protein S35 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:27904053-27904827

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Rab15 effector protein: a novel protein for receptor recycling from the endocytic recycling compartment. Strick DJ, et al. Mol Biol Cell, 2005 Dec. PMID 16195351, Free PMC Article
  2. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. Hou P, et al. Cancer Res, 2017 Aug 15. PMID 28625976, Free PMC Article
  3. Image-based genome-wide siRNA screen identifies selective autophagy factors. Orvedahl A, et al. Nature, 2011 Dec 1. PMID 22020285, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in receptor recycling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in receptor recycling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in transferrin transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transferrin transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in recycling endosome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
rab15 effector protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001029874.3 → NP_001025045.3  rab15 effector protein

    Status: REVIEWED

    Source sequence(s)
    AC009509
    Consensus CDS
    CCDS31762.1
    UniProtKB/Swiss-Prot
    B2RU16, Q6BDI9
    Related
    ENSP00000310335.2, ENST00000310791.4
    Conserved Domains (1) summary
    pfam15208
    Location:1 → 236
    Rab15_effector; Rab15 effector

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    27696447..27697596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    27568182..27569331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6BDI9.4 GenPept UniProtKB/Swiss-Prot:Q6BDI9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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