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    RAB38 RAB38, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 23682, updated on 4-Nov-2018

    Summary

    Official Symbol
    RAB38provided by HGNC
    Official Full Name
    RAB38, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9776
    See related
    Ensembl:ENSG00000123892 MIM:606281; Vega:OTTHUMG00000167288
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    rrGTPbp; NY-MEL-1
    Expression
    Biased expression in skin (RPKM 6.0), esophagus (RPKM 5.8) and 13 other tissues See more
    Orthologs

    Genomic context

    See RAB38 in Genome Data Viewer
    Location:
    11q14.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (87809490..88175504, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (87846415..87908635, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984361 Neighboring gene RNA, U6 small nuclear 1135, pseudogene Neighboring gene uncharacterized LOC105369423 Neighboring gene MT-CYB pseudogene 41 Neighboring gene microRNA 3166 Neighboring gene cathepsin C

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Frontotemporal dementia and its subtypes: a genome-wide association study.
    NHGRI GWA Catalog
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
      RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
    • RAB geranylgeranylation, organism-specific biosystem (from REACTOME)
      RAB geranylgeranylation, organism-specific biosystemHuman cells have more than 60 RAB proteins that are involved in trafficking of proteins in the endolysosomal system. These small GTPases contribute to trafficking specificity by localizing to the mem...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    AP-1 adaptor complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT AP-2 adaptor complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    AP-3 adaptor complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    BLOC-2 complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    GTP binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    GTP-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GTPase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Rab protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endosome to melanosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    melanosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phagosome acidification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet dense granule organization IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phosphatidylcholine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein localization to membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    small GTPase mediated signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Mitochondria-associated ER Membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT early endosome lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    melanosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome membrane TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ras-related protein Rab-38
    Names
    Rab-related GTP-binding protein
    melanoma antigen NY-MEL-1

    NCBI Reference Sequences (RefSeq)

    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_022337.2NP_071732.1  ras-related protein Rab-38

      See identical proteins and their annotated locations for NP_071732.1

      Status: VALIDATED

      Source sequence(s)
      AL546159, AP001642, AP005436, BC015808
      Consensus CDS
      CCDS8281.1
      UniProtKB/Swiss-Prot
      P57729
      UniProtKB/TrEMBL
      A0A024R191
      Related
      ENSP00000243662.5, OTTHUMP00000235620, ENST00000243662.10, OTTHUMT00000394015
      Conserved Domains (1) summary
      cd04107
      Location:10208
      Rab32_Rab38; Rab GTPase families 18 (Rab18) and 32 (Rab32)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      87809490..88175504 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017456.2XP_016872945.1  ras-related protein Rab-38 isoform X1

    2. XM_017017455.2XP_016872944.1  ras-related protein Rab-38 isoform X1

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