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

    Gene ID: 1369, updated on 10-Dec-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
    mouse all
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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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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
    		Compare labs

    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)

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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