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FLASH GENE
Symbol CA9 contributors: mct - updated : 27-08-2013
HGNC name carbonic anhydrase IX
HGNC id 1383
Location 9p13.3      Physical location : 35.673.914 - 35.681.152
Synonym name
  • renal cell carcinoma (RCC) associated protein G250
  • membrane antigen MN
  • carbonic dehydratase
    • Synonym symbol(s) G250, MN, CAIX, P54/58N
    EC.number 4.2.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 7.24 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status inconsistent : contradictory evidence
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1561 49 459 - 2008 18482982
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
  • only in renal clear cell carcinoma
  • MN/CA antigen expressed in HeLa cells and some human carcinomas
    • fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text HIF-1alpha and CA9 expression co- localized in many, but not all, of the embryonic and early fetal tissues
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an helix-loop-helix (HLH) N terminal domain, and a unique N-linked glycosylation site (Asn309) that bears high mannose-type glycan structures
  • secretory signal sequence
  • the carbonic anhydrase domain
  • a single transmembrane segment
  • an intra-cytoplasmic tail
    • secondary structure an intramolecular disulfide bridge (Cys119-Cys299)
    conjugated MetalloP
    isoforms Precursor
    HOMOLOGY
    Homologene
    FAMILY
  • eukaryotic-type anhydrase family
    • CATEGORY enzyme , secretory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • membrane-tethered, carbonic anhydrase (CA) enzyme, expressed mainly at the external surface of cells, that catalyzes reversible CO(2) hydration
  • reversibly hydrating Co2 in cellular ion transport and pH homeostasis
  • hypoxia-induced enzyme that has many biologically important functions, including its role in cell adhesion and invasion
  • CA12 with CA9 are major tumor prosurvival pH-regulating enzymes, and their combined targeting shows that they hold potential as anticancer targets
  • strongly involved in high incidences of metastasis and poor prognosis in various human tumors
  • modulates tumor-associated cell migration and invasion
  • is a pivotal mediator of the hypoxia-cAMP-PRKCA axis, which regulates pH in the hypoxic tumor microenvironment
  • actively contributes to cell migration via its ability to facilitate ion transport and pH control at protruding fronts of moving cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • CA9 is a new down-stream target for SRC oncogene
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in some human carcinomas
    tumoral     --over  
    in MnSOD-positive oligodendroglial brain tumors
    tumoral     --over  
    in hereditary nonpolyposis colorectal cancer
    tumoral     --over  
    induces weakening of cell adhesions and augmented cell motility by aberrant Rho-GTPase signal transduction (
    tumoral     --over  
    in glioblastoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is an independent prognostic factor for poor outcome in patients with glioblastoma
  • biomarker of aggressive disease in neuroblastomas
    • Therapy target
    SystemTypeDisorderPubmed
    tumor  
    inhibition of CA9 activity may offer a novel strategy for the clinical treatment of CA9-associated tumors
    cancerbrainglioma/neuroblstoma
    inhibition of CA9is a potential metabolic target for the treatment of patients with glioblastoma
    ANIMAL & CELL MODELS