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    RAB23 RAB23, member RAS oncogene family [ Homo sapiens ]

    Gene ID: 51715, updated on 21-Jan-2012
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    Summary

    Official Symbol
    RAB23provided by HGNC
    Official Full Name
    RAB23, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:14263
    Locus tag
    RP3-496N17.3
    See related
    Ensembl:ENSG00000112210; HPRD:05850; MIM:606144; Vega:OTTHUMG00000014918
    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
    HSPC137
    Summary
    The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It may be involved in small GTPase mediated signal transduction and intracellular protein transportation. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    6p11
    Sequence :
    Chromosome: 6; NC_000006.11 (57053581..57087078, complement)
    See RAB23 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506156 Neighboring gene zinc finger protein 451 Neighboring gene BCL2-associated athanogene 2 Neighboring gene uncharacterized LOC100506188 Neighboring gene primase, DNA, polypeptide 2 (58kDa) Neighboring gene microRNA 548u

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. Jenkins D, et al. Hum Mutat, 2011 Apr. PMID 21412941.
    2. RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. Alessandri JL, et al. Am J Med Genet A, 2010 Apr. PMID 20358613.
    3. Integrative genomics identifies RAB23 as an invasion mediator gene in diffuse-type gastric cancer. Hou Q, et al. Cancer Res, 2008 Jun 15. PMID 18559507.
    4. Rab GTPases and their roles in brain neurons and glia. Ng EL, et al. Brain Res Rev, 2008 Jun. PMID 18485483.
    5. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Jenkins D, et al. Am J Hum Genet, 2007 Jun. PMID 17503333.

    See all (13) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay
      Title: Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
    2. A RAB23 mutation (c.86dupA) present in the homozygote state in four relatives of Comorian origin with Carpenter syndrome, is reported.
      Title: RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.
    3. Data show that RAB23 participates in central nervous system development.
      Title: Rab GTPases and their roles in brain neurons and glia.
    4. RAB23 amplifications are associated with gastric cancer
      Title: Integrative genomics identifies RAB23 as an invasion mediator gene in diffuse-type gastric cancer.
    5. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development.
      Title: RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
    6. Rab23 is overexpressed and/or activated in hepatocellular carcinoma (HCC). Rab23 may be both a HCC predictor and a target for treating HCC.
      Title: Rab23 is a potential biological target for treating hepatocellular carcinoma.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Carpenter syndrome

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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog proteins are a family of secreted ligands that include sonic hedgehog, Indian hedgehog and desert hedgehog in humans. Binding of Hedgehog ligands to their receptors, Patched 1 and 2, pre...
    • Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem (from Pathway Interaction Database)
      Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem
      Hedgehog signaling events mediated by Gli proteins
    • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
      Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and or...
    • Hedgehog signaling pathway, conserved biosystem (from KEGG)
      Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and or...

    Clone Names

    • MGC8900, DKFZp781H0695

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    spinal cord dorsal/ventral patterning IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    ras-related protein Rab-23
    Names
    ras-related protein Rab-23
    RAB family small GTP binding protein RAB 23
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    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.

    Genomic

    1. NG_012170.1 RefSeqGene

      Range
      5001..38498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016277.3 → NP_057361.3  ras-related protein Rab-23

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AJ420545, BC015021
      Consensus CDS
      CCDS4962.1
      UniProtKB/Swiss-Prot
      Q9ULC3
      Related
      ENSP00000320413, ENST00000317483
      Conserved Domains (2) summary
      cd04106
      Location:10 – 169
      Blast Score: 773
      Rab23_like; Rab GTPase family 23 (Rab23)-like
      PLN03108
      Location:11 – 212
      Blast Score: 313
      PLN03108; Rab family protein; Provisional

    2. NM_183227.1 → NP_899050.1  ras-related protein Rab-23

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB034244, AJ420545, AU280196
      Consensus CDS
      CCDS4962.1
      UniProtKB/Swiss-Prot
      Q9ULC3
      Related
      ENSP00000417610, OTTHUMP00000016667, ENST00000468148, OTTHUMT00000041042
      Conserved Domains (2) summary
      cd04106
      Location:10 – 169
      Blast Score: 773
      Rab23_like; Rab GTPase family 23 (Rab23)-like
      PLN03108
      Location:11 – 212
      Blast Score: 313
      PLN03108; Rab family protein; Provisional

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      57053581..57087078, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      56887638..56921134, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL031321.1 CAI21564.1
    genomic CH471081.1 EAX04476.1
      EAX04477.1
      EAX04478.1
      EAX04479.1
    mRNA AB025427.1 BAB40309.1
    mRNA AB034244.1 BAA87324.1
    mRNA AF161486.1 AAF29101.1
    mRNA AF498951.1 AAM21099.1
    mRNA AK311123.1 None
    mRNA AK313796.1 BAG36532.1
    mRNA AU280196.1 None
    mRNA AY585189.1 AAT79492.1
    mRNA BC015021.1 AAH15021.1
    mRNA CR749371.1 CAH18224.1
    other-genetic EU832304.1 ACE87561.1
    other-genetic EU832388.1 ACE86873.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    Q9ULC3.1 GenPept UniProtKB/Swiss-Prot:Q9ULC3
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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