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    RAB8B RAB8B, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 51762, updated on 3-Nov-2024

    Summary

    Official Symbol
    RAB8Bprovided by HGNC
    Official Full Name
    RAB8B, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:30273
    See related
    Ensembl:ENSG00000166128 MIM:613532; AllianceGenome:HGNC:30273
    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
    Summary
    RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 21.6), lymph node (RPKM 18.0) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RAB8B in Genome Data Viewer
    Location:
    15q22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (63189606..63267776)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (60994386..61072552)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63481805..63559975)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:63448416-63449615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6511 Neighboring gene ribosomal protein S27 like Neighboring gene uncharacterized LOC101928972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:63485907-63486407 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:63502826-63503391 Neighboring gene uncharacterized LOC124903504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6514 Neighboring gene aph-1 homolog B, gamma-secretase subunit

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ38125

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables TPR domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-substrate junction organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endocytic recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of corticotropin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein import into peroxisome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell tip IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in recycling endosome membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in trans-Golgi network transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ras-related protein Rab-8B
    Names
    RAB-8b protein

    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_016530.3NP_057614.1  ras-related protein Rab-8B

      See identical proteins and their annotated locations for NP_057614.1

      Status: VALIDATED

      Source sequence(s)
      AB038995, AC016207, BG721755
      Consensus CDS
      CCDS10183.1
      UniProtKB/Swiss-Prot
      Q5JPC4, Q92930, Q9P293
      UniProtKB/TrEMBL
      B4DMS1
      Related
      ENSP00000312734.4, ENST00000321437.9
      Conserved Domains (1) summary
      cd01867
      Location:6172
      Rab8_Rab10_Rab13_like; Rab GTPase families 8, 10, 13 (Rab8, Rab10, Rab13)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      63189606..63267776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022312.1XP_016877801.1  ras-related protein Rab-8B isoform X1

      Conserved Domains (1) summary
      cl21455
      Location:191
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. XM_011521669.4XP_011519971.1  ras-related protein Rab-8B isoform X2

      Conserved Domains (1) summary
      cl21455
      Location:682
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      60994386..61072552
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378183.1XP_054234158.1  ras-related protein Rab-8B isoform X1

    2. XM_054378184.1XP_054234159.1  ras-related protein Rab-8B isoform X2