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FLASH GENE
Symbol RAB1A contributors: mct - updated : 06-02-2024
HGNC name RAB1A, member RAS oncogene family
HGNC id 9758
Corresponding disease
NDDSM neurodevelopmental disorder with speech and motor delay
Location 2p14      Physical location : 65.313.988 - 65.357.435
Synonym name
  • GTP binding protein Rab1a
  • Rab GTPase YPT1 homolog
  • Synonym symbol(s) RAB1, YPT1, DKFZp564B163
    EC.number 3.6.5.2
    DNA
    TYPE functioning gene
    STRUCTURE 43.45 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2420 - 129 - 2000 10903204
    6 - 2648 22 205 - 2000 10903204
    - - 1190 - - - 2000 10903204
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Endocrineparathyroid   highly
    Hearing/Equilibriumear   highly
    Nervousbrain    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an ATP/GTP binding site
  • a pleckstrin homology domain (PH)
  • HOMOLOGY
    Homologene
    FAMILY
  • RAS-GTPase superfamily
  • RAB subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    text
  • localized to early and late endocytic vesicles
  • basic FUNCTION
  • small GTPase, involved in transfer from ER to Golgi
  • RAB1A and RAB43 are key Rabs required for the biogenesis and maintenance of a functional Golgi structure, and suggest that other Rabs acting at the Golgi complex are likely to be functionally redundant
  • RAB1A and RAB6 may be involved in the regulation of the retinal adaptation
  • well characterized function in the regulation of vesicle trafficking from the endoplasmic reticulum to the Golgi apparatus and within Golgi compartments
  • novel function in the regulation of cell migration through controlling integrin beta1 recycling and localization to lipid rafts via a specific downstream effector pathway
  • regulates phenotypic modulation of pulmonary artery smooth muscle cells by mediating the transport of angiotensin II type 1 receptor under hypoxia
  • regulates minus-end-directed motility largely by recruiting KIFC1 to early endocytic vesicles
  • phosphocholination of RAB1A and RAB35 represents a mechanism by which bacterial FIC-domain-containing proteins can alter host-cell functions
  • acts as an oncogene by regulating cellular proliferation, growth, invasion and metastasis via activation of MTOR pathway in triple-negative breast cancer
  • critical role for RAB1A in neuronal morphogenesis, particularly in establishing dendritic length and arborization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling signal transduction
  • new signaling pathway that involves RAB1A and controls the actin cytoskeleton and pseudopod extension, and thereby, cell polarity and motility
  • phosphocholination of RAB1A and RAB35 represents a mechanism by which bacterial FIC-domain-containing proteins can alter host-cell functions
  • a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
    GTP binding
    protein
  • recruiting P115 to coat protein complex II (COPII) vesicles where P115 forms a cis-SNARE complex that promotes targeting to the Golgi apparatus
  • interactions of GOLGA2 with STX5 and RAB1A are also regulated by mitotic phosphorylation, which is likely to contribute to the inhibition of ER to Golgi trafficking that occurs when mammalian cells enter mitosis
  • interaction of RAB1A and its regulator ARL6IP5 are involved in trafficking and neuronal differentiation
  • LRRK2 binds the small GTPase Rab1A as well as the F-actin cross-linking protein filamin (actin-binding protein 120, abp120)
  • HSPA8 interacted with RAB1A in a chaperone-dependent manner
  • interacts with both MTOR and its regulator RAB1A on the Golgi
  • RAB1A stimulated the formation and elongation of WHAMM-associated membrane tubules in cells
  • C9orf72 is a novel RAB1A effector in the regulation of autophagy
  • RAB1A can rescue the cytotoxicity caused by ARL6IP5 possibly by "positively" regulating ER-Golgi trafficking, cancelling the "negative" modulation by ARL6IP5
  • GOLPH3 interacted directly with either RAB1A or RAB1B, the two isoforms of RAB1
  • RAB1A is a novel regulator of GLI1 to promote colorectal cancer (CRC) cell proliferation and migration
  • during mitosis, AURKA phosphorylates RAB1A at Thr75, and Thr75 phosphorylation renders RAB1A in a constantly active state by preventing interaction with GDP-dissociation inhibitor (GDI)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDDSM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    significantly upregulated in CRC tissues and increased RAB1A expression correlated with tumor size, lymph node metastasis (LNM) and tumor-node-metastasis
    tumoral     --over  
    overexpressed in CRC tissues compared with matched noncancerous tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • RAB1A is an important diagnostic marker for Colorectal cancer (CRC), and RAB1A can be used as a valuable biomarker for prognosis as well as peritoneal metastasis in CRC patients (PMIS: 30058685)
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    may prove to be clinically useful for developing a new therapeutic target of CRC treatment
    ANIMAL & CELL MODELS
  • Rab1a was found to be highly expressed in the small intestine of both adult mice and embryos, although its expression levels were low in the brains of embryos, and disruption of the Rab1a gene causes embryonic lethality