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

Gene ID: 1369, updated on 8-Dec-2018

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
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

Genomic context

See CPN1 in Genome Data Viewer
Location:
10q24.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (100042308..100081885, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101802065..101841642, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Nanog homeobox pseudogene 6 Neighboring gene ATP binding cassette subfamily C member 2 Neighboring gene dynamin binding protein Neighboring gene DNMBP antisense RNA 1 Neighboring gene MT-ATP8 pseudogene 4 Neighboring gene cytochrome P450 family 2 subfamily C member 23, pseudogene Neighboring gene tropomyosin 4 pseudogene 1 Neighboring gene signal peptidase complex subunit 2 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Anaphylotoxin inactivator deficiency
MedGen: C0398782 OMIM: 212070 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Insulin processing, organism-specific biosystem (from REACTOME)
    Insulin processing, organism-specific biosystemThe generation of insulin-containing secretory granules from proinsulin in the lumen of the endoplasmic reticulum (ER) can be described in 4 steps: formation of intramolecular disulfide bonds, format...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
  • Steroid Biosynthesis, organism-specific biosystem (from WikiPathways)
    Steroid Biosynthesis, organism-specific biosystem
    Steroid Biosynthesis

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40792

Gene Ontology Provided by GOA

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

General protein information

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)

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
    5001..44578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308.2NP_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
    P15169
    Related
    ENSP00000359446.3, ENST00000370418.7
    Conserved Domains (2) summary
    cd03864
    Location:25337
    M14_CPN; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase N subgroup
    cd11308
    Location:341415
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    100042308..100081885 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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