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

Summary

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CPN binds to fibrinogen and is present in a fibrin clot prepared from plasma.
Title: Binding of carboxypeptidase N to fibrinogen and fibrin.
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.
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.
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.
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.
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.
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	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 3.4.17.3

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

NG_012060.1 RefSeqGene

Range

5017..44693

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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