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FLASH GENE
Symbol CA5A contributors: mct - updated : 29-03-2014
HGNC name carbonic anhydrase VA, mitochondrial
HGNC id 1377
Corresponding disease
CA5AD CA5A deficiency
Location 16q24.3      Physical location : 87.921.624 - 87.970.112
Synonym symbol(s) CA5, CAV, CAVA
EC.number 4.2.1.1
DNA
TYPE functioning gene
STRUCTURE 48.55 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure TATA no, TTTAA sequence
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 1084 - 305 - 1999 10082753
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestine  highly Homo sapiens
 intestinesmall intestine  highly Homo sapiens
 liver     Homo sapiens
 stomach     Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Digestiveenterocyte Homo sapiens
Digestiveepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated MetalloP
HOMOLOGY
Homologene
FAMILY eukaryotic-type carbonic anhydrase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
basic FUNCTION
  • reversibly hydrating CO2 in cellular ion transport and pH homeostasis
  • participates in the detoxification of ammonia produced in the gastrointestinal tract by providing bicarbonate to carbamyl phosphate synthetase
  • CA5A, CA5B are pivotal in providing HCO3&
  • 8722; for multiple mitochondrial enzymes that catalyze the formation of essential metabolites of intermediary metabolism in the urea and Krebs cycles
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text putatively involved in ureagenesis, gluconeogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CA5AD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS