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CPN1 carboxypeptidase N subunit 1 [ Homo sapiens (human) ]

Gene ID: 1369, updated on 2-Nov-2024

Summary

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Official Symbol
CPN1provided by HGNC
Official Full Name
carboxypeptidase N subunit 1provided by HGNC
Primary source
HGNC:HGNC:2312
See related
Ensembl:ENSG00000120054 MIM:603103; AllianceGenome:HGNC:2312
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPN; SCPN
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 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]
Expression
Restricted expression toward liver (RPKM 18.6) See more
Orthologs
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Genomic context

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See CPN1 in Genome Data Viewer
Location:
10q24.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100042193..100081869, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (100925921..100965601, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101801950..101841626, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene dynamin binding protein Neighboring gene uncharacterized LOC124902490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3879 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2700 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:101804113-101804939 Neighboring gene MT-ATP8 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2701 Neighboring gene cytochrome P450 family 2 subfamily C member 23, pseudogene Neighboring gene TPM4 pseudogene 1 Neighboring gene signal peptidase complex subunit 2 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. cDNA cloning of kininase 1. Gebhard W, et al. Adv Exp Med Biol, 1989. PMID 2610070
  2. cDNA cloning and complete primary structure of the small, active subunit of human carboxypeptidase N (kininase 1). Gebhard W, et al. Eur J Biochem, 1989 Jan 2. PMID 2912725
  3. On the specificity of carboxypeptidase N, a comparative study. Hendriks D, et al. Biol Chem Hoppe Seyler, 1993 Sep. PMID 8267877
  4. Binding of carboxypeptidase N to fibrinogen and fibrin. Talens S, et al. Biochem Biophys Res Commun, 2012 Oct 19. PMID 23000409
  5. DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. Cao H, et al. J Hum Genet, 2003. PMID 12560874

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CPN binds to fibrinogen and is present in a fibrin clot prepared from plasma.
    Title: Binding of carboxypeptidase N to fibrinogen and fibrin.
  2. Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Identification of genetic factors associated with susceptibility to angiotensin-converting enzyme inhibitors-induced cough.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease.
  4. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
  5. circulating CPN/CPB and platelets may potentially contribute to regulating the bioactivity of leukocyte chemoattractant chemerin
    Title: Regulation of chemerin bioactivity by plasma carboxypeptidase N, carboxypeptidase B (activated thrombin-activable fibrinolysis inhibitor), and platelets.
  6. This review summarizes the structure, enzymatic properties and function of this enzyme, including insights gained by the recent elucidation of the crystal structure of the CPN catalytic subunit and structural modeling of the non-catalytic 83 kDa subunit.
    Title: Structure and function of human plasma carboxypeptidase N, the anaphylatoxin inactivator.
  7. carboxypeptidase N regulates the biologic activity of SDF-1alpha by reducing the chemokine-specific activity
    Title: Identification of carboxypeptidase N as an enzyme responsible for C-terminal cleavage of stromal cell-derived factor-1alpha in the circulation.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Anaphylotoxin inactivator deficiency
MedGen: C0398782 OMIM: 212070 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40792

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metallocarboxypeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in bradykinin catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in peptide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
carboxypeptidase N catalytic chain
Names
anaphylatoxin inactivator
arginine carboxypeptidase
carboxypeptidase K
carboxypeptidase N catalytic subunit
carboxypeptidase N polypeptide 1 50 kD
carboxypeptidase N small subunit
carboxypeptidase N, polypeptide 1
kininase I
kininase-1
lysine carboxypeptidase
plasma carboxypeptidase B
serum carboxypeptidase N
NP_001299.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012060.1 RefSeqGene

    Range
    5017..44693
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308.3 → NP_001299.1  carboxypeptidase N catalytic chain precursor

    See identical proteins and their annotated locations for NP_001299.1

    Status: REVIEWED

    Source sequence(s)
    AL441886, AW950687, X14329
    Consensus CDS
    CCDS7486.1
    UniProtKB/Swiss-Prot
    B1AP59, P15169
    Related
    ENSP00000359446.3, ENST00000370418.8
    Conserved Domains (2) summary
    cd03864
    Location:25 → 337
    M14_CPN; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase N subgroup
    cd11308
    Location:341 → 415
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    100042193..100081869 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    100925921..100965601 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P15169.1 GenPept UniProtKB/Swiss-Prot:P15169

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