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    RAB3D RAB3D, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 9545, updated on 3-Nov-2024

    Summary

    Official Symbol
    RAB3Dprovided by HGNC
    Official Full Name
    RAB3D, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9779
    See related
    Ensembl:ENSG00000105514 MIM:604350; AllianceGenome:HGNC:9779
    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
    GOV; D2-2; RAB16; RAD3D
    Summary
    Enables myosin V binding activity. Involved in bone resorption and positive regulation of regulated secretory pathway. Located in cytoplasmic microtubule and secretory vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 24.5), esophagus (RPKM 14.0) and 22 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See RAB3D in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11322068..11339657, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11449052..11466642, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11432744..11450333, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11354157-11354967 Neighboring gene angiopoietin like 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11363424-11364392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11364393-11365361 Neighboring gene Sharpr-MPRA regulatory region 11176 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11367378-11367534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10106 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:11408869-11409370 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:11409371-11409870 Neighboring gene tetraspanin 16 Neighboring gene uncharacterized HSPC102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11456465-11457295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11461146-11461646 Neighboring gene transmembrane protein 205 Neighboring gene coiled-coil domain containing 159

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTP-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables myosin V binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables myosin V binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone resorption IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of regulated secretory pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in secretory vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in zymogen granule IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ras-related protein Rab-3D
    Names
    Rab3D upregulated with myeloid differentiation
    epididymis secretory sperm binding protein
    glioblastoma overexpressed

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_004283.4NP_004274.1  ras-related protein Rab-3D

      See identical proteins and their annotated locations for NP_004274.1

      Status: VALIDATED

      Source sequence(s)
      AC011472, AF019226, BC016471, BQ011121, DA241826
      Consensus CDS
      CCDS12257.1
      UniProtKB/Swiss-Prot
      O95716
      UniProtKB/TrEMBL
      A0A024R7G2, B2R8W8
      Related
      ENSP00000222120.2, ENST00000222120.8
      Conserved Domains (1) summary
      cd01865
      Location:22186
      Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      11322068..11339657 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11449052..11466642 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)