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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
Physical map
LOC392227 8 similar to peptidylprolyl isomerase A FLJ10511 8q12.3 armadillo repeat containing protein CHPPR 8q12.3 likely ortholog of chicken chondrocyte protein with a poly-proline region PDE7A 8q13 phosphodiesterase 7A MGC26226 8q12.3 beta cysteine string protein RNF29 8q12.3 ring finger protein 29 CRH 8q13 corticotropin releasing hormone RRS1 8q12.3 RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) ADHFE1 8q12.3 alcohol dehydrogenase, iron containing, 1 MGC33510 8q12.3 hypothetical protein MGC33510 MYBL1 8q22 v-myb myeloblastosis viral oncogene homolog (avian)-like 1 VCIP135 8q13 valosin-containing protein (p97)/p47 complex-interacting protein p135 FLJ11267 8q13.1 hypothetical protein FLJ11267 PTTG3 8q13.1 hypothetical protein FLJ11267 SGKL 8q12.3-q13.1 serum/glucocorticoid regulated kinase-like FLJ25692 8q13.1 hypothetical protein FLJ25692 LOC392228 8 similar to hypothetical class II basic helix-loop-helix protein LOC286187 8q13.1 similar to RIKEN cDNA 1700011J18 COPS5 8q13.1 COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) FLJ22490 8q13.1 hypothetical protein FLJ22490 BIG1 8q13 hypothetical protein FLJ22490 LOC389666 8 LOC389666 LOC392229 8 similar to 60S ribosomal protein L17 (L23) (Amino acid starvation-induced protein) (ASI) CPA6 8q12.3 carboxypeptidase A6 FLJ12987 8q13.1 hypothetical protein FLJ12987 VEST1 8q13 vestibule-1 protein LOC389667 8 similar to tropomyosin 4
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