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    RAB23 RAB23, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 51715, updated on 5-Mar-2024

    Summary

    Official Symbol
    RAB23provided by HGNC
    Official Full Name
    RAB23, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:14263
    See related
    Ensembl:ENSG00000112210 MIM:606144; AllianceGenome:HGNC:14263
    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
    This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Broad expression in endometrium (RPKM 23.9), urinary bladder (RPKM 18.7) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    6p12.1-p11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (57186992..57222307, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (57026017..57061677, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (57051790..57087105, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:56912079-56912956 Neighboring gene KIAA1586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:56954672-56955554 Neighboring gene ZNF451 regulatory antisense RNA 1 Neighboring gene zinc finger protein 451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:57037271-57038028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17304 Neighboring gene BAG cochaperone 2 Neighboring gene DNA primase subunit 2 Neighboring gene long intergenic non-protein coding RNA 3001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17305 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:57211753-57212253 Neighboring gene microRNA 548u

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC8900, DKFZp781H0695

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in GTP metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular defense response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in craniofacial suture morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in autophagosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in autophagosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in phagocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ras-related protein Rab-23
    Names
    RAB family small GTP binding protein RAB 23
    NP_001265595.1
    NP_001265596.1
    NP_001265597.1
    NP_057361.3
    NP_899050.1
    XP_054211572.1

    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.

    Genomic

    1. NG_012170.1 RefSeqGene

      Range
      4974..40289
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278666.2NP_001265595.1  ras-related protein Rab-23

      See identical proteins and their annotated locations for NP_001265595.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AF161486, AL031321, BC015021, DA391757
      Consensus CDS
      CCDS4962.1
      UniProtKB/Swiss-Prot
      B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3
      Conserved Domains (1) summary
      cd04106
      Location:10169
      Rab23_like; Rab GTPase family 23 (Rab23)-like
    2. NM_001278667.2NP_001265596.1  ras-related protein Rab-23

      See identical proteins and their annotated locations for NP_001265596.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL031321, BC015021, DA391757, DA997359
      Consensus CDS
      CCDS4962.1
      UniProtKB/Swiss-Prot
      B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3
      Conserved Domains (1) summary
      cd04106
      Location:10169
      Rab23_like; Rab GTPase family 23 (Rab23)-like
    3. NM_001278668.2NP_001265597.1  ras-related protein Rab-23

      See identical proteins and their annotated locations for NP_001265597.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL031321, AU280196, BC015021, DA021294
      Consensus CDS
      CCDS4962.1
      UniProtKB/Swiss-Prot
      B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3
      Conserved Domains (1) summary
      cd04106
      Location:10169
      Rab23_like; Rab GTPase family 23 (Rab23)-like
    4. NM_016277.5NP_057361.3  ras-related protein Rab-23

      See identical proteins and their annotated locations for NP_057361.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL031321, BC015021, DA391757
      Consensus CDS
      CCDS4962.1
      UniProtKB/Swiss-Prot
      B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3
      Related
      ENSP00000417610.1, ENST00000468148.6
      Conserved Domains (1) summary
      cd04106
      Location:10169
      Rab23_like; Rab GTPase family 23 (Rab23)-like
    5. NM_183227.3NP_899050.1  ras-related protein Rab-23

      See identical proteins and their annotated locations for NP_899050.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
      Source sequence(s)
      AL031321, BC015021, DA021294
      Consensus CDS
      CCDS4962.1
      UniProtKB/Swiss-Prot
      B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3
      Related
      ENSP00000320413.3, ENST00000317483.4
      Conserved Domains (1) summary
      cd04106
      Location:10169
      Rab23_like; Rab GTPase family 23 (Rab23)-like

    RNA

    1. NR_103822.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks several internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK311123, AL031321, BC015021, DA391757

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      57186992..57222307 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      57026017..57061677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355597.1XP_054211572.1  ras-related protein Rab-23 isoform X1

      UniProtKB/Swiss-Prot
      B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3