Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]
Function:
Protects the body from potent vasoactive and inflammatory peptides containing SLCterminal Arg or Lys (such as kinins or anaphylatoxins) which are released into the circulation.
Subcellular Location:
Secreted > extracellular space.
Tissue Specificity:
Synthesized in the liver and secreted in plasma.
DISEASE:
Defects in CPN1 are the cause of carboxypeptidase N deficiency (CPND) [MIM:212070]. Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or astma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder.
Similarity:
Belongs to the peptidase M14 family.
SWISS:
P15169
Gene ID:
1369
Database links:
Entrez Gene: 1369 Human
Entrez Gene: 93721 Mouse
Entrez Gene: 365466 Rat
Omim: 603103 Human
SwissProt: Q2KJ83 Cow
SwissProt: P15169 Human
SwissProt: Q9JJN5 Mouse
SwissProt: Q9EQV8 Rat
Unigene: 2246 Human
Unigene: 206774 Mouse
Unigene: 145303 Rat
Unigene: 162532 Rat
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