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FLASH GENE
Symbol CPA6 contributors: mct - updated : 27-05-2011
HGNC name carboxypeptidase A6
HGNC id 17245
Corresponding disease
DURS1 Duane retraction syndrome 1
ETL5 epilepsy, familial temporal lobe, 5
FEB11 febrile seizures, familial, 11
Location 8q13.2      Physical location : 68.334.405 - 68.658.620
Synonym symbol(s) CPAH
EC.number 3.4.17.1
DNA
TYPE functioning gene
STRUCTURE 324.22 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1907 - 437 - 2002 11836249
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon lowly
Nervousbrain     Homo sapiens
Olfactory (smell)olfactory bulb     Homo sapiens
Respiratoryrespiratory tractlarynx  predominantly
cell lineage
cell lines
fluid/secretion
at STAGE
Text expressed in a number of chondrocytic and nervous tissues during embryogenesis
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a leader segment an activation peptide
  • a carboxypeptidase moiety with a zinc binding site
  • conjugated GlycoP , MetalloP
    mono polymer monomer
    isoforms Precursor 50-kDa pro-CPA6 is routed through the constitutive secretory pathway, processed by furin or a furin-like enzyme into the 37-kDa active form, and secreted into the extracellular matrix.
    HOMOLOGY
    interspecies ortholog to murine Cpa6
    Homologene
    FAMILY carboxypeptidase A metalloprotease M14 family
    CATEGORY enzyme , secretory
    SUBCELLULAR LOCALIZATION extracellular
    text
  • secreted enzyme that binds tightly to the extracellular matrix (ECM)
  • basic FUNCTION
  • cleaving substrates with C terminal hydrophobic residues, and has a preference for large hydrophobic C-terminal amino acids as well as histidine
  • cleaves the C-terminal residue from a range of substrates, including small synthetic substrates, larger peptides, and proteins
  • role for CPA6 in the regulation of neuropeptides in the extracellular environment within the olfactory bulb and other parts of the brain
  • having functions in the cleavage of amino acids from the C termini of a variety of peptide and protein substrates
  • extracellular matrix-bound metallocarboxypeptidase, having a role in the cleavage of large hydrophobic amino acids
  • having a preference for large hydrophobic C-terminal amino acids and only very weak activity toward small amino acids and histidine
  • may play a role in developmental processes in the embryon but also in the adult
  • because CPA6 is present in the ECM and expressed during development, it is possible that it processes proteins or peptides involved in morphogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein
  • cleaves the C-terminal AA from a range of substrates, including small synthetic substrates, larger peptides, and proteins
  • converts enkephalin and neurotensin into forms known to be inactive toward their receptors, and converts inactive angiotensin I into the biologically active angiotensin II
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DURS1 , ETL5 , FEB11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   translocation    
    disrupted by a balanced translocation t(6;8) (q26;q13) in a patient with Duane retraction syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS