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    REP15 RAB15 effector protein [ Homo sapiens (human) ]

    Gene ID: 387849, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See REP15 in Genome Data Viewer
    Location:
    12p11.22
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (27696447..27697596)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (27568182..27569331)
    RS_2024_09 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. Rep15 interacts with several Rab GTPases and has a distinct fold for a Rab effector. Rai A, et al. Nat Commun, 2022 Jul 23. PMID 35871249, Free PMC Article
    3. 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
    4. Image-based genome-wide siRNA screen identifies selective autophagy factors. Orvedahl A, et al. Nature, 2011 Dec 1. PMID 22020285, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) 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_2024_08

    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.

    Chemical Information
    Molecular Biology Databases
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