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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CPN1 Gene

protein-coding   GIFtS: 64
GCID: GC10M101792

Carboxypeptidase N, Polypeptide 1

(Previous names: carboxypeptidase N, polypeptide 1, 50kD)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Carboxypeptidase N, Polypeptide 11 2     EC 3.4.17.33 8
Anaphylatoxin Inactivator1 2 3     Carboxypeptidase N, Polypeptide 1, 50kD1
Arginine Carboxypeptidase1 2 3     Carboxypeptidase N Catalytic Chain2
Lysine Carboxypeptidase1 2 3     Carboxypeptidase N Catalytic Subunit2
CPN2 3 5     Carboxypeptidase N Polypeptide 1 50 KD2
SCPN2 3 5     kininase-12
Carboxypeptidase K1 2     ACBP3
Kininase I1 2     Kininase-13
Carboxypeptidase N Small Subunit2 3     Carboxypeptidase N Polypeptide 13
Plasma Carboxypeptidase B2 3     EC 3.4.178
Serum Carboxypeptidase N2 3     

External Ids:    HGNC: 23121   Entrez Gene: 13692   Ensembl: ENSG000001200547   OMIM: 6031035   UniProtKB: P151693   

Export aliases for CPN1 gene to outside databases

Previous GC identifers: GC10M100695 GC10M101035 GC10M101933 GC10M101466 GC10M095429


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, polypeptide 1) is a protein-coding gene. Diseases associated with CPN1 include carboxypeptidase n deficiency, and peroneal nerve paralysis, and among its related super-pathways are Peptide hormone metabolism and Post-translational protein modification. GO annotations related to this gene include metallocarboxypeptidase activity and zinc ion binding. An important paralog of this gene is CPZ.

UniProtKB/Swiss-Prot: CBPN_HUMAN, P15169
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

Gene Wiki entry for CPN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CPN1 gene promoter:
         HFH-3   AhR   p53   p300   Pax-6   Nkx5-1   Arnt   Egr-4   AREB6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CPN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.2   Ensembl cytogenetic band:  10q24.2   HGNC cytogenetic band: 10q24.2

CPN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPN1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M101792:  view genomic region     (about GC identifiers)

Start:
101,801,950 bp from pter      End:
101,841,642 bp from pter
Size:
39,693 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CBPN_HUMAN, P15169 (See protein sequence)
Recommended Name: Carboxypeptidase N catalytic chain precursor  
Size: 458 amino acids; 52286 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Tetramer of two catalytic chains and two glycosylated inactive chains
Subcellular location: Secreted, extracellular space
1 PDB 3D structure from and Proteopedia for CPN1:
2NSM (3D)    

Explore the universe of human proteins at neXtProt for CPN1: NX_P15169

Explore proteomics data for CPN1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15169

  • 4/13 DME Specific Peptides for CPN1 (P15169) (see all 13)
     GINHDVT  GNMHGNE  VANYPYD  ELSCDKFP 

    CPN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CPN1 Protein Expression
    REFSEQ proteins: NP_001299.1  
    ENSEMBL proteins: 
     ENSP00000359446   ENSP00000410895  
    Reactome Protein details: P15169
    Human Recombinant Protein Products for CPN1: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CPN1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for CPN1
    GenScript Custom Purified and Recombinant Proteins Services for CPN1
    Novus Biologicals CPN1 Protein
    Novus Biologicals CPN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CPN1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--

    CPN1 for ontologies           About GeneDecksing



    CPN1 Antibody Products: 
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    Novus Biologicals CPN1 Antibodies
    Abcam antibodies for CPN1
    Cloud-Clone Corp. Antibodies for CPN1 
    ThermoFisher Antibodies for CPN1
    LSBio Antibodies in human, mouse, rat for CPN1 

    Assay Products for CPN1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CPN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CPN1 
    Cloud-Clone Corp. CLIAs for CPN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Carboxypeptidase N, polypeptide 1 
    Metallocarboxypeptidases

    4 InterPro protein domains:
     IPR008969 CarboxyPept-like_regulatory
     IPR014766 CarboxyPept_regulatory_dom
     IPR000834 Peptidase_M14
     IPR027063 CPN1

    Graphical View of Domain Structure for InterPro Entry P15169

    ProtoNet protein and cluster: P15169

    UniProtKB/Swiss-Prot: CBPN_HUMAN, P15169
    Similarity: Belongs to the peptidase M14 family


    CPN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CBPN_HUMAN, P15169
    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
    Catalytic activity: Release of a C-terminal basic amino acid, preferentially lysine

         Genatlas biochemistry entry for CPN1:
    carboxypeptidase N catalytic subunit,50kDa

         Enzyme Numbers (IUBMB): EC 3.4.17.31 2 EC 3.4.172

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004180carboxypeptidase activity ----
    GO:0004181metallocarboxypeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    CPN1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CPN1:
     Decreased Wnt reporter activit  Decreased viability of wild-ty 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cpn1):
     immune system 

    CPN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cpn1tm1Raw for CPN1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CPN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CPN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CPN1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CPN1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CPN1:
    hsa-miR-3163
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CPN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CPN1

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of CPN1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CPN1 (see all 7)
    OriGene ORF clones in mouse, rat for CPN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CPN1 (NM_001308)
    Sino Biological Human cDNA Clone for CPN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPN1
    Sirion Biotech Customized lentivirus for stable overexpression of CPN1 
                         Customized lentivirus expression plasmids for stable overexpression of CPN1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CPN1
    Search LifeMap BioReagents cell lines for CPN1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPN1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CPN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Insulin Processing
    Peptide hormone metabolism0.39
    Insulin Processing0.39
    2Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    3Prostate Cancer
    Prostate Cancer0.32
    4Estrone metabolism
    Steroid Biosynthesis0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for CPN1
        Prostate Cancer
    Steroid Biosynthesis


    3        Reactome Pathways for CPN1
        Insulin Processing
    Metabolism of proteins
    Peptide hormone metabolism



    CPN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CPN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for CPN1 (P151693 ENSP000003594464) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C3P010243, ENSP000002459074I2D: score=2 STRING: ENSP00000245907
    CLEC4GQ6UXB43, ENSP000003275994I2D: score=2 STRING: ENSP00000327599
    C5P010313, ENSP000002236424I2D: score=1 STRING: ENSP00000223642
    KNG1P010423, ENSP000002650234I2D: score=1 STRING: ENSP00000265023
    CDC42P609533, ENSP000003144584I2D: score=2 STRING: ENSP00000314458
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0051384response to glucocorticoid stimulus IEA--

    CPN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CPN1 for compounds           About GeneDecksing

    EMD Millipore small molecules for CPN1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CPN1 (CBPN)

    1 HMDB Compound for CPN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ZincZinc (see all 2)7440-66-6--

    4 Novoseek inferred chemical compound relationships for CPN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anaphylatoxin 79.2 5 11939578 (1), 18039526 (1), 10878383 (1), 12008933 (1)
    lysine 59.6 10 15718415 (3), 8223650 (1), 12008932 (1), 7674952 (1) (see all 8)
    arginine 57.4 10 7517876 (1), 12008932 (1), 14687935 (1), 11939578 (1) (see all 10)
    zinc 9.46 2 14687935 (1), 11342641 (1)

    Search CenterWatch for drugs/clinical trials and news about CPN1 / CBPN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CPN1 gene: 
    NM_001308.2  

    Unigene Cluster for CPN1:

    Carboxypeptidase N, polypeptide 1
    Hs.2246  [show with all ESTs]
    Unigene Representative Sequence: BC027897
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370418(uc001kql.2) ENST00000441382

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CPN1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CPN1:
    hsa-miR-3163
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CPN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CPN1
    Clone
    Products:
         
    OriGene clones in human, mouse for CPN1 (see all 7)
    OriGene ORF clones in mouse, rat for CPN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CPN1 (NM_001308)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPN1
    Sirion Biotech Customized lentivirus for stable overexpression of CPN1 
                         Customized lentivirus expression plasmids for stable overexpression of CPN1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CPN1
    OriGene qSTAR qPCR primer pairs in human, mouse for CPN1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CPN1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CPN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CPN1

    Additional mRNA sequence: 

    AK313972.1 BC027897.1 X14329.1 

    2 DOTS entries:

    DT.408608  DT.100683060 

    24/37 AceView cDNA sequences (see all 37):

    AI076669 X14329 BC027897 BX098642 NM_001308 CR603435 CR608830 BI835624 
    BU838862 CR597710 AI952742 BX431886 BX426659 BQ676439 AW188007 AL564792 
    BM042306 BE220892 AW003077 AI827992 BE465608 AI201195 AL564473 AV655691 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CPN1 expression in normal human tissues (normalized intensities)      CPN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CPN1 Expression
    About this image


    CPN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Kidney (Urinary System)
             Metanephros
     
     Pancreas (Endocrine System)
             visceral organ/gut/foregut-midgut junction   
     
     Liver (Hepatobiliary System)

     -- (Integumentary System)
             SKIN   

    See CPN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CPN1

    SOURCE GeneReport for Unigene cluster: Hs.2246

    UniProtKB/Swiss-Prot: CBPN_HUMAN, P15169
    Tissue specificity: Synthesized in the liver and secreted in plasma

        SABiosciences Custom PCR Arrays for CPN1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CPN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CPN1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpn11 , 5 carboxypeptidase N, polypeptide 11, 5 84.03(n)1
    83.59(a)1
      19 (36.68 cM)5
    937211  NM_030703.21  NP_109628.11 
     439563075 
    chicken
    (Gallus gallus)
    Aves CPN11 carboxypeptidase N, polypeptide 1 71.88(n)
    72.87(a)
      769143  XM_001231868.2  XP_001231869.1 
    lizard
    (Anolis carolinensis)
    Reptilia CPD6
    CPN16
    carboxypeptidase N, polypeptide 1

    66(a)
    possible ortholog
    1 ↔ 1
    AAWZ02040490(2155-6752)
    3(38150167-38181285)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684902 hypothetical protein MGC68490 74.58(n)    BC059995.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cpn12 carboxypeptidase N, polypeptide 1 74.11(n)   337172  CK238787.1 


    ENSEMBL Gene Tree for CPN1 (if available)
    TreeFam Gene Tree for CPN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CPN1 gene
    CPZ2  CPE2  CPXM22  AEBP12  CPD2  CPM2  CPXM12  
    7 SIMAP similar genes for CPN1 using alignment to 3 protein entries:     CBPN_HUMAN (see all proteins):
    CPE    CPZ    CPD    CPXM1    CPM    CPXM2
    DKFZp666J235

    CPN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/784 SNPs in CPN1 are shown (see all 784)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617515071,2,4
    C,FCarboxypeptidase N deficiency (CPND)4 pathogenic1102191116(+) TGGGGC/TCTCCG 2 D G mis13Minor allele frequency- T:0.03NA EU 5919
    rs1133314201,2
    C--101802605(+) GCACTT/-TGGGA 1 -- int13Minor allele frequency- -:0.00NA CSA 8
    rs113953821,2
    C--101803157(+) AAAAGA/-AAAAA 1 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs42959811,2
    C,F,A,H--101803425(+) CTTTTC/TTTTTT 1 -- int1 trp38Minor allele frequency- T:0.16NS WA NA CSA EA 490
    rs2014839781,2
    --101803425(+) CTTTT-/CTTTTT 1 -- int10--------
    rs342545531,2
    C,F--101804422(+) GTCACC/TGCACC 1 -- int13Minor allele frequency- T:0.33NA 6
    rs348290051,2
    C--101807581(+) AAAAA-/ACCCAC 1 -- int12Minor allele frequency- A:0.25NA CSA 4
    rs1115630921,2
    C,F--101808993(+) ACAGGC/TGTGAG 1 -- int12Minor allele frequency- T:0.04CSA NA 122
    rs1445189951,2
    C--101810117(+) AATAG-/AACA  
            
    AAACA
    1 -- int10--------
    rs558793341,2
    C--101810119(+) ACAAA-/CAAA  
            
    TCTGT
    1 -- int11Minor allele frequency- CAAA:0.00NA 2

    HapMap Linkage Disequilibrium report for CPN1 (101801950 - 101841642 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CPN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv825541CNV Gain20364138


    Human Gene Mutation Database (HGMD): CPN1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CPN1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603103   
    OMIM disorders: 212070  
    UniProtKB/Swiss-Prot: CBPN_HUMAN, P15169
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 16 diseases for CPN1:    About MalaCards
    carboxypeptidase n deficiency    peroneal nerve paralysis    urticaria    peroneal neuropathy
    lymphogranuloma venereum    11-beta-hydroxylase-deficient congenital adrenal hyperplasia    angioedema    glucocorticoid-remediable aldosteronism
    chronic pyelonephritis    polyarteritis nodosa    pyelonephritis    paralysis
    fatty liver disease    liver disease    neuropathy    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for CPN1:
    Pyelonephritis

    CPN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for CPN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inflammation 0 1 8543751 (1)

    Genetic Association Database (GAD): CPN1
    Human Genome Epidemiology (HuGE) Navigator: CPN1 (30 documents)

    Export disorders for CPN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CPN1 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with CPN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and complete primary structure of the small, active subunit of human carboxypeptidase N (kininase 1). (PubMed id 2912725)1, 2, 3 Gebhard W....Eulitz M. (1989)
    2. DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. (PubMed id 12560874)1, 2, 9 Cao H. and Hegele R.A. (2003)
    3. Chromosomal localization of the genes for human carboxypeptidase D (CPD) and the active 50-kilodalton subunit of human carboxypeptidase N (CPN1). (PubMed id 9628828)1, 3, 9 Riley D.A....Skidgel R.A. (1998)
    4. PNPLA3 variants specifically confer increased risk fo r histologic nonalcoholic fatty liver disease but not metabolic disease. (PubMed id 20648472)1, 4 Speliotes E.K....Hirschhorn J.N. (2010)
    5. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (PubMed id 18940312)1, 4 Yuan X....Mooser V. (2008)
    6. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. On the specificity of carboxypeptidase N, a comparative study. (PubMed id 8267877)1, 2 Hendriks D.... Scharpe S. (1993)
    9. Amino acid sequence of the N-terminus and selected tryptic peptides of the active subunit of human plasma carboxypeptidase N: comparison with other carboxypeptidases. (PubMed id 3408501)1, 2 Skidgel R.A....Erdoes E.G. (1988)
    10. Carboxypeptidase N: a pleiotropic regulator of inflammation. (PubMed id 14687935)1, 9 Matthews K.W....Wetsel R.A. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1369 HGNC: 2312 AceView: CPN1 Ensembl:ENSG00000120054 euGenes: HUgn1369
    ECgene: CPN1 H-InvDB: CPN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CPN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CPN1 gene:
    Search GeneIP for patents involving CPN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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