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... See more...

Aliases for CPN1 Gene

Aliases for CPN1 Gene

  • Carboxypeptidase N Subunit 1 2 3 5
  • Anaphylatoxin Inactivator 2 3 4
  • Arginine Carboxypeptidase 2 3 4
  • Lysine Carboxypeptidase 2 3 4
  • Carboxypeptidase N Catalytic Chain 3 4
  • Carboxypeptidase N, Polypeptide 1 2 3
  • Carboxypeptidase N Small Subunit 3 4
  • Plasma Carboxypeptidase B 3 4
  • Serum Carboxypeptidase N 3 4
  • Carboxypeptidase K 2 3
  • EC 3.4.17.3 4 51
  • Kininase I 2 3
  • Kininase-1 3 4
  • SCPN 3 4
  • CPN 3 4
  • Carboxypeptidase N, Polypeptide 1, 50kD 2
  • Carboxypeptidase N Polypeptide 1 50 KD 3
  • Carboxypeptidase N Catalytic Subunit 3
  • Carboxypeptidase N Polypeptide 1 4
  • EC 3.4.17 51
  • CPN1 5
  • ACBP 4

External Ids for CPN1 Gene

Previous GeneCards Identifiers for CPN1 Gene

  • GC10M100695
  • GC10M101035
  • GC10M101933
  • GC10M101466
  • GC10M101792
  • GC10M095429

Summaries for CPN1 Gene

Entrez Gene Summary for CPN1 Gene

  • 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]

GeneCards Summary for CPN1 Gene

CPN1 (Carboxypeptidase N Subunit 1) is a Protein Coding gene. Diseases associated with CPN1 include Carboxypeptidase N Deficiency and Angioedema. Among its related pathways are Androstenedione and testosterone biosynthesis and metabolism p.1 and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include metallocarboxypeptidase activity and carboxypeptidase activity. An important paralog of this gene is CPE.

UniProtKB/Swiss-Prot Summary for CPN1 Gene

  • 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.

Gene Wiki entry for CPN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPN1 Gene

Genomics for CPN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CPN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J100081 Promoter 0.8 EPDnew 600.7 +0.0 5 0.1 GATAD2A REST SP1 FOXA2 YY1 TFDP1 FOXP1 POLR2A RAD21 HOMEZ CPN1 piR-43325-015 DNMBP
GH10J100082 Promoter 0.8 EPDnew 600.7 +0.2 200 0.1 GATAD2A REST RBFOX2 SP1 TFDP1 HOMEZ HNF4A RXRA ARID4B ZNF48 CPN1 piR-43325-015 DNMBP
GH10J100080 Enhancer 0.5 Ensembl 600.7 +0.4 368 0.2 REST RBFOX2 TFDP1 HOMEZ ARID4B ZNF48 HNF4G YY1 CPN1 piR-43325-015 DNMBP
GH10J100148 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -66.4 -66432 4.2 RFX1 BACH1 ZNF24 IKZF2 YY1 SCRT2 EED CEBPB ZNF140 RELB CWF19L1 BLOC1S2 ENSG00000236308 EBAG9P1 MRPL43 ERLIN1 CPN1 RNU6-422P CHUK DNMBP
GH10J100112 Enhancer 0.4 Ensembl 12 -30.2 -30231 0.2 ZNF24 CTCF STAT1 RAD21 CPN1 TPM4P1 lnc-CPN1-1 piR-37097-013 CYP2C23P ERLIN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CPN1

Top Transcription factor binding sites by QIAGEN in the CPN1 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • Egr-4
  • HFH-3
  • Nkx5-1
  • p300
  • p53
  • Pax-6

Genomic Locations for CPN1 Gene

Genomic Locations for CPN1 Gene
chr10:100,042,193-100,081,869
(GRCh38/hg38)
Size:
39,677 bases
Orientation:
Minus strand
chr10:101,801,950-101,841,642
(GRCh37/hg19)
Size:
39,693 bases
Orientation:
Minus strand

Genomic View for CPN1 Gene

Genes around CPN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPN1 Gene

Proteins for CPN1 Gene

  • Protein details for CPN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15169-CBPN_HUMAN
    Recommended name:
    Carboxypeptidase N catalytic chain
    Protein Accession:
    P15169
    Secondary Accessions:
    • B1AP59

    Protein attributes for CPN1 Gene

    Size:
    458 amino acids
    Molecular mass:
    52286 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Tetramer of two catalytic chains and two glycosylated inactive chains.

    Three dimensional structures from OCA and Proteopedia for CPN1 Gene

neXtProt entry for CPN1 Gene

Selected DME Specific Peptides for CPN1 Gene

P15169:
  • FVLSANLHGG
  • GINHDVT
  • ELSCDKFP
  • YLHTNCFE
  • PNHHLPLP
  • PSMNPDGYE
  • PLPDNWKSQVEPET
  • HGDYFRLLLPG
  • DLNRNFPD
  • CFEITLELSC
  • VANYPYD
  • ELQREWLGNREALIQFLEQVHQGIKGMV
  • GNMHGNE

Post-translational modifications for CPN1 Gene

  • Glycosylation at Thr400, Thr402, and Thr409
  • Modification sites at PhosphoSitePlus

Other Protein References for CPN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CPN1 Gene

Gene Families for CPN1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CPN1 Gene

Suggested Antigen Peptide Sequences for CPN1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94620, Homo sapiens carboxypeptidase N, polypeptide 1, 50kD (CPN1), mRNA (B1AP59_HUMAN)
  • Serum carboxypeptidase N (CBPN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15169

UniProtKB/Swiss-Prot:

CBPN_HUMAN :
  • Belongs to the peptidase M14 family.
Family:
  • Belongs to the peptidase M14 family.
genes like me logo Genes that share domains with CPN1: view

Function for CPN1 Gene

Molecular function for CPN1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Release of a C-terminal basic amino acid, preferentially lysine.; EC=3.4.17.3;.
GENATLAS Biochemistry:
carboxypeptidase N catalytic subunit,50kDa

Enzyme Numbers (IUBMB) for CPN1 Gene

Phenotypes From GWAS Catalog for CPN1 Gene

Gene Ontology (GO) - Molecular Function for CPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity IEA --
GO:0004181 metallocarboxypeptidase activity IEA,IBA 21873635
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with CPN1: view
genes like me logo Genes that share phenotypes with CPN1: view

Human Phenotype Ontology for CPN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CPN1 Gene

MGI Knock Outs for CPN1:
  • Cpn1 Cpn1<tm1Raw>
  • Cpn1 Cpn1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPN1

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for CPN1 Gene

Localization for CPN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPN1 Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPN1 gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS,IBA 21873635
genes like me logo Genes that share ontologies with CPN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CPN1 Gene

Pathways & Interactions for CPN1 Gene

genes like me logo Genes that share pathways with CPN1: view

Pathways by source for CPN1 Gene

1 BioSystems pathway for CPN1 Gene

SIGNOR curated interactions for CPN1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for CPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006518 peptide metabolic process IBA 21873635
GO:0010815 bradykinin catabolic process IEA --
GO:0016485 protein processing IBA 21873635
GO:0030449 regulation of complement activation TAS --
genes like me logo Genes that share ontologies with CPN1: view

Drugs & Compounds for CPN1 Gene

(7) Drugs for CPN1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target, cofactor 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Target, cofactor 0
ORE-1001 Investigational Pharma Target 0

(1) Additional Compounds for CPN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CPN1: view

Transcripts for CPN1 Gene

mRNA/cDNA for CPN1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPN1

Alternative Splicing Database (ASD) splice patterns (SP) for CPN1 Gene

No ASD Table

Relevant External Links for CPN1 Gene

GeneLoc Exon Structure for
CPN1

Expression for CPN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CPN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPN1 Gene

This gene is overexpressed in Liver (x52.2).

Protein differential expression in normal tissues from HIPED for CPN1 Gene

This gene is overexpressed in Serum (22.2), Plasma (20.2), and Synovial fluid (20.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CPN1 Gene



Protein tissue co-expression partners for CPN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CPN1

SOURCE GeneReport for Unigene cluster for CPN1 Gene:

Hs.2246

mRNA Expression by UniProt/SwissProt for CPN1 Gene:

P15169-CBPN_HUMAN
Tissue specificity: Synthesized in the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for CPN1 Gene

  • Liver(4.6)
  • Pancreas(4.3)
  • Blood(2.7)
  • Heart(2.5)
  • Nervous system(2.4)
  • Kidney(2.4)
  • Muscle(2.4)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CPN1 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
General:
  • skin
genes like me logo Genes that share expression patterns with CPN1: view

Orthologs for CPN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CPN1 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia CPN1 30 31
  • 88.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CPN1 30 31
  • 88.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cpn1 30
  • 83.98 (n)
Mouse
(Mus musculus)
Mammalia Cpn1 30 17 31
  • 83.98 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CPN1 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 71 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
-- 31
  • 42 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CPN1 30 31
  • 72.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CPN1 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cpn1 30
  • 66.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68490 30
Zebrafish
(Danio rerio)
Actinopterygii cpn1 30 31 31
  • 66.11 (n)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9650 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG4678 32
  • 41 (a)
Worm
(Caenorhabditis elegans)
Secernentea F01D4.4 32
  • 45 (a)
F59A3.1 32
  • 44 (a)
T27A8.1 32
  • 39 (a)
Species where no ortholog for CPN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CPN1 Gene

ENSEMBL:
Gene Tree for CPN1 (if available)
TreeFam:
Gene Tree for CPN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPN1: view image

Paralogs for CPN1 Gene

Paralogs for CPN1 Gene

(7) SIMAP similar genes for CPN1 Gene using alignment to 2 proteins:

  • CBPN_HUMAN
  • B1AP58_HUMAN
genes like me logo Genes that share paralogs with CPN1: view

Variants for CPN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CPN1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
780887 Benign: not provided 100,065,200(-) C/T SYNONYMOUS_VARIANT
827594 Not Provided: Hereditary angioedema with normal C1Inh 100,048,769(-) C/T MISSENSE_VARIANT
rs61751507 Benign: Anaphylotoxin inactivator deficiency; not specified. Carboxypeptidase N deficiency (CPND) [MIM:212070] 100,069,757(-) C/Tp.Gly178Asp MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CPN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CPN1 Gene

Variant ID Type Subtype PubMed ID
nsv1144512 CNV deletion 24896259
nsv552045 CNV gain 21841781
nsv825541 CNV gain 20364138

Variation tolerance for CPN1 Gene

Residual Variation Intolerance Score: 14.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPN1 Gene

Human Gene Mutation Database (HGMD)
CPN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPN1 Gene

Disorders for CPN1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CPN1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
carboxypeptidase n deficiency
  • anaphylotoxin inactivator deficiency
angioedema
  • angioneurotic edema
urticaria
chlamydia pneumonia
  • chlamydia pneumoniae
hereditary angioedema
  • hane
- elite association - COSMIC cancer census association via MalaCards
Search CPN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CBPN_HUMAN
  • Carboxypeptidase N deficiency (CPND) [MIM:212070]: Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder. {ECO:0000269 PubMed:12560874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CPN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CPN1: view

No data available for Genatlas for CPN1 Gene

Publications for CPN1 Gene

  1. DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. (PMID: 12560874) Cao H … Hegele RA (Journal of human genetics 2003) 3 4 23
  2. Chromosomal localization of the genes for human carboxypeptidase D (CPD) and the active 50-kilodalton subunit of human carboxypeptidase N (CPN1). (PMID: 9628828) Riley DA … Skidgel RA (Genomics 1998) 2 3 23
  3. cDNA cloning and complete primary structure of the small, active subunit of human carboxypeptidase N (kininase 1). (PMID: 2912725) Gebhard W … Eulitz M (European journal of biochemistry 1989) 2 3 4
  4. PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. (PMID: 20648472) Speliotes EK … Hirschhorn JN (Hepatology (Baltimore, Md.) 2010) 3 41
  5. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (PMID: 18940312) Yuan X … Mooser V (American journal of human genetics 2008) 3 41

Products for CPN1 Gene

  • Signalway ELISA kits for CPN1

Sources for CPN1 Gene