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    RAB27B RAB27B, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 5874, updated on 17-Jun-2019

    Summary

    Official Symbol
    RAB27Bprovided by HGNC
    Official Full Name
    RAB27B, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9767
    See related
    Ensembl:ENSG00000041353 MIM:603869
    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
    C25KG
    Summary
    Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]
    Expression
    Biased expression in stomach (RPKM 15.0), prostate (RPKM 9.9) and 13 other tissues See more
    Orthologs

    Genomic context

    See RAB27B in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (54717842..54895516)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (52385097..52562747)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 2 Neighboring gene dynactin associated protein Neighboring gene ribosomal protein SA pseudogene 57 Neighboring gene coiled-coil domain containing 68 Neighboring gene uncharacterized LOC107985125 Neighboring gene microtubule associated protein 1 light chain 3 pseudogene

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Deregulation of Rab and Rab Effector Genes in Bladder Cancer, organism-specific biosystem (from WikiPathways)
      Deregulation of Rab and Rab Effector Genes in Bladder Cancer, organism-specific biosystemExample of the Rab27 cluster. The Rab27 cluster is comprised of the two RAB27 isoforms (RAB27A and RAB27B), the GEF MADD, the GAP TBC1D10A and 12 effector proteins
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • 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.
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • 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...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • 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
    GDP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myosin V binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific 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 
    anterograde axonal protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    melanosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    multivesicular body sorting pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Golgi stack IDA
    Inferred from Direct Assay
    more info
    PubMed 
    anchored component of synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    melanosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    melanosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    multivesicular body membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    platelet dense granule membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    trans-Golgi network transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zymogen granule membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ras-related protein Rab-27B
    NP_004154.2
    XP_005266790.1
    XP_006722581.1
    XP_011524433.1
    XP_016881402.1
    XP_016881403.1
    XP_024307000.1

    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_004163.4NP_004154.2  ras-related protein Rab-27B

      See identical proteins and their annotated locations for NP_004154.2

      Status: VALIDATED

      Source sequence(s)
      AC098848, AF329499
      Consensus CDS
      CCDS11958.1
      UniProtKB/Swiss-Prot
      O00194
      Related
      ENSP00000262094.4, ENST00000262094.10
      Conserved Domains (1) summary
      cd04127
      Location:6185
      Rab27A; Rab GTPase family 27a (Rab27a)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      54717842..54895516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025913.1XP_016881402.1  ras-related protein Rab-27B isoform X1

      UniProtKB/Swiss-Prot
      O00194
      Conserved Domains (1) summary
      cd04127
      Location:6185
      Rab27A; Rab GTPase family 27a (Rab27a)
    2. XM_017025914.1XP_016881403.1  ras-related protein Rab-27B isoform X1

      UniProtKB/Swiss-Prot
      O00194
      Conserved Domains (1) summary
      cd04127
      Location:6185
      Rab27A; Rab GTPase family 27a (Rab27a)
    3. XM_005266733.1XP_005266790.1  ras-related protein Rab-27B isoform X1

      See identical proteins and their annotated locations for XP_005266790.1

      UniProtKB/Swiss-Prot
      O00194
      Conserved Domains (1) summary
      cd04127
      Location:6185
      Rab27A; Rab GTPase family 27a (Rab27a)
    4. XM_006722518.1XP_006722581.1  ras-related protein Rab-27B isoform X2

      See identical proteins and their annotated locations for XP_006722581.1

      Conserved Domains (2) summary
      smart00174
      Location:12170
      RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
      cl21455
      Location:6156
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    5. XM_011526131.1XP_011524433.1  ras-related protein Rab-27B isoform X2

      See identical proteins and their annotated locations for XP_011524433.1

      Conserved Domains (2) summary
      smart00174
      Location:12170
      RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
      cl21455
      Location:6156
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    6. XM_024451232.1XP_024307000.1  ras-related protein Rab-27B isoform X1

      Conserved Domains (1) summary
      cd04127
      Location:6185
      Rab27A; Rab GTPase family 27a (Rab27a)

    RNA

    1. XR_935245.1 RNA Sequence

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