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

Gene ID: 5872, updated on 17-Jun-2019

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
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

Genomic context

See RAB13 in Genome Data Viewer
Location:
1q21.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (153981605..153990644, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153954093..153958853, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 39 member 1 Neighboring gene microRNA 6737 Neighboring gene cAMP responsive element binding protein 3 like 4 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
  • 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

  • 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.
  • 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...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Translocation of GLUT4 to the plasma membrane, organism-specific biosystem (from REACTOME)
    Translocation of GLUT4 to the plasma membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 (SLC2A4) glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose...
  • 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
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein 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 
bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to insulin stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cortical actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
endothelial cell chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of Sertoli cell barrier ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein kinase A signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
trans-Golgi network to recycling endosome transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
NOT Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell junction TAS
Traceable Author Statement
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
insulin-responsive compartment ISS
Inferred from Sequence or Structural Similarity
more info
 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

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)

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_001272038.1NP_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, BC009227, CN396084
    Consensus CDS
    CCDS72921.1
    UniProtKB/Swiss-Prot
    P51153
    UniProtKB/TrEMBL
    A0A087WWB9
    Related
    ENSP00000480103.1, ENST00000614713.4
    Conserved Domains (1) summary
    cl21455
    Location:191
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_002870.4NP_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, AL358472, BC000799, BC094846
    Consensus CDS
    CCDS1058.1
    UniProtKB/Swiss-Prot
    P51153
    UniProtKB/TrEMBL
    Q504R6
    Related
    ENSP00000357564.3, ENST00000368575.3
    Conserved Domains (1) summary
    cd01867
    Location:6172
    Rab8_Rab10_Rab13_like; Rab GTPase families 8, 10, 13 (Rab8, Rab10, Rab13)

RNA

  1. NR_073553.1 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, BJ997167, BU188046

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    153981605..153990644 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A087WWB9
    Conserved Domains (1) summary
    cl21455
    Location:191
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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