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    RAB13 RAB13, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 5872, updated on 28-Oct-2024

    Summary

    Official Symbol
    RAB13provided by HGNC
    Official Full Name
    RAB13, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9762
    See related
    Ensembl:ENSG00000143545 MIM:602672; AllianceGenome:HGNC:9762
    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
    GIG4
    Summary
    This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 34.2), prostate (RPKM 33.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RAB13 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (153981650..153990708, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153118913..153127907, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153954126..153958815, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:153948322-153948971 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:153949621-153950269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1770 Neighboring gene Sharpr-MPRA regulatory region 11874 Neighboring gene cAMP responsive element binding protein 3 like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:153958417-153958918 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:153962963-153964162 Neighboring gene JTB divergent transcript Neighboring gene jumping translocation breakpoint Neighboring gene nucleoporin 210 like Neighboring gene ribosomal protein L34 pseudogene 5 Neighboring gene ribosomal protein S27

    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?

    Pathways from PubChem

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 Golgi to plasma membrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in bicellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to insulin stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cortical actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocytic recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endothelial cell chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment of Sertoli cell barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein kinase A signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein kinase A signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cell leading edge IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in trans-Golgi network to recycling endosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    NOT located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endocytic vesicle 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 
    located_in insulin-responsive compartment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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-13
    Names
    RAS-associated protein RAB13
    cell growth-inhibiting gene 4 protein
    growth-inhibiting gene 4 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_001272038.2NP_001258967.1  ras-related protein Rab-13 isoform 2

      See identical proteins and their annotated locations for NP_001258967.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a novel 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.
      Source sequence(s)
      AK291580, AL358472, BC009227, CN396084
      Consensus CDS
      CCDS72921.1
      UniProtKB/TrEMBL
      A0A087WWB9
      Related
      ENSP00000480103.1, ENST00000614713.4
      Conserved Domains (1) summary
      cl38936
      Location:191
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_002870.5NP_002861.1  ras-related protein Rab-13 isoform 1

      See identical proteins and their annotated locations for NP_002861.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK291580, BC000799, BC094846
      Consensus CDS
      CCDS1058.1
      UniProtKB/Swiss-Prot
      A8K6B5, D3DV67, P51153, Q5U0A6, Q6GPG6, Q96GU4
      UniProtKB/TrEMBL
      Q504R6
      Related
      ENSP00000357564.3, ENST00000368575.5
      Conserved Domains (1) summary
      cd01867
      Location:6172
      Rab8_Rab10_Rab13_like; Rab GTPase families 8, 10, 13 (Rab8, Rab10, Rab13)

    RNA

    1. NR_073553.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' terminal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK291580, BC000799, BU188046

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      153981650..153990708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001959.2XP_016857448.1  ras-related protein Rab-13 isoform X1

      UniProtKB/TrEMBL
      A0A087WWB9
      Conserved Domains (1) summary
      cl38936
      Location:191
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      153118913..153127907 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338004.1XP_054193979.1  ras-related protein Rab-13 isoform X1

      UniProtKB/TrEMBL
      A0A087WWB9