CPN1 (carboxypeptidase N subunit 1)

Gene

• Entrez ID: 1369
• Gene name: Carboxypeptidase N subunit 1
• Gene symbol: CPN1
• Synonyms (NCBI Gene): CPN, SCPN
• Chromosome: 10
• Chromosome location: 10q24.2
• Summary: 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 an

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2508143	hsa-miR-2278	CLIP-seq
MIRT2508144	hsa-miR-4722-5p	CLIP-seq
MIRT2508145	hsa-miR-4762-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	IBA
GO:0004181	Function	Metallocarboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	TAS	2912725
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	2912725
GO:0006508	Process	Proteolysis	IEA
GO:0006518	Process	Peptide metabolic process	IBA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010815	Process	Bradykinin catabolic process	IEA
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051384	Process	Response to glucocorticoid	IEA

Other IDs

• MIM: 603103
• HGNC: 2312
• e!Ensembl: ENSG00000120054

Protein

• UniProt ID: P15169
• Protein name: Carboxypeptidase N catalytic chain (CPN) (EC 3.4.17.3) (Anaphylatoxin inactivator) (Arginine carboxypeptidase) (Carboxypeptidase N polypeptide 1) (Carboxypeptidase N small subunit) (Kininase-1) (Lysine carboxypeptidase) (Plasma carboxypeptidase B) (Serum
• Protein function: Protects the body from potent vasoactive and inflammatory peptides containing C-terminal Arg or Lys (such as kinins or anaphylatoxins) which are released into the circulation.
• PDB: 2NSM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00246	Peptidase_M14	31 → 330	Zinc carboxypeptidase	Domain
  PF13620	CarboxypepD_reg	341 → 416		Domain

• Tissue specificity: TISSUE SPECIFICITY: Synthesized in the liver and secreted in plasma.
• Sequence:

  MSDLLSVFLHLLLLFKLVAPVTFRHHRYDDLVRTLYKVQNECPGITRVYSIGRSVEGRHL
  YVLEFSDHPGIHEPLEPEVKYVGNMHGNEALGRELMLQLSEFLCEEFRNRNQRIVQLIQD
  TRIHILPSMNPDGYEVAAAQGPNKPGYLVGRNNANGVDLNRNFPDLNTYIYYNEKYGGPN
  HHLPLPDNWKSQVEPETRAVIRWMHSFNFVLSANLHGGAVVANYPYDKSFEHRVRGVRRT
  ASTPTPDDKLFQKLAKVYSYAHGWMFQGWNCGDYFPDGITNGASWYSLSKGMQDFNYLHT
  NCFEITLELSCDKFPPEEELQREWLGNREALIQFLEQVHQGIKGMVLDENYNNLANAVIS
  VSGINHDVTSGDHGDYFRLLLPGIYTVSATAPGYDPETVTVTVGPAEPTLVNFHLKRSIP
  QVSPVRRAPSRRHGVRAKVQPQARKKEMEMRQLQRGPA

• Sequence length: 458

Pathways

Reactome:

Regulation of Complement cascade

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Anaphylotoxin inactivator deficiency	Pathogenic	rs2493413630	RCV000007001	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARBOXYPEPTIDASE N DEFICIENCY	—	CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CPN1-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary angioedema with normal C1Inh	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Acute Aortic Syndrome	Associate	32256857	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	25803781, 27058005	★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	35458690	★☆☆☆☆ Found in Text Mining only
Weight Loss	Associate	27897403	★☆☆☆☆ Found in Text Mining only