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

PCSK1 Gene

protein-coding   GIFtS: 68
GCID: GC05M095751

Proprotein Convertase Subtilisin/Kexin Type 1


(Previous symbol: NEC1)
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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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Proprotein Convertase Subtilisin/Kexin Type 11 2     NEC 12 3
NEC11 2 3 5     EC 3.4.21.933 8
Prohormone Convertase 11 2 3     BMIQ122 5
PC12 3 5     PC32 5
Proprotein Convertase 11 3     SPC32
Neuroendocrine Convertase 11 2     EC 3.4.218
Prohormone Convertase 31 2     

External Ids:    HGNC: 87431   Entrez Gene: 51222   Ensembl: ENSG000001754267   OMIM: 1621505   UniProtKB: P291203   
ORGUL members:         
NONCODE14:n340564      

Export aliases for PCSK1 gene to outside databases

Previous GC identifers: GC05M094956 GC05M096190 GC05M095754 GC05M095800 GC05M090916


(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 PCSK1 Gene:
The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this
family are proprotein convertases that process latent precursor proteins into their biologically active products.
This encoded protein is a type I proinsulin-processing enzyme that plays a key role in regulating insulin
biosynthesis. It is also known to cleave proopiomelanocortin, prorenin, proenkephalin, prodynorphin,
prosomatostatin and progastrin. Mutations in this gene are thought to cause obesity. This encoded protein is
associated with carcinoid tumors. Mutations in this gene have been associated with susceptibility to obesity and
proprotein convertase 1/3 deficiency. Multiple transcript variants encoding different isoforms have been found
for this gene.(provided by RefSeq, Apr 2010)

GeneCards Summary for PCSK1 Gene: 
PCSK1 (proprotein convertase subtilisin/kexin type 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with PCSK1 include obesity with impaired prohormone processing, and proprotein convertase-1 deficiency, and among its related super-pathways are Incretin Synthesis, Secretion, and Inactivation and Peptide hormone metabolism. GO annotations related to this gene include endopeptidase activity and serine-type endopeptidase activity. An important paralog of this gene is PCSK2.

UniProtKB/Swiss-Prot: NEC1_HUMAN, P29120
Function: Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic
amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin and insulin

Gene Wiki entry for PCSK1 (Proprotein convertase 1) 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_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PCSK1 gene promoter:
         PPAR-gamma1   FOXO4   NRSF form 1   STAT3   PPAR-gamma2   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCSK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PCSK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCSK1


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

Entrez Gene cytogenetic band: 5q15-q21   Ensembl cytogenetic band:  5q15   HGNC cytogenetic band: 5q15-q21

PCSK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCSK1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M095751:  view genomic region     (about GC identifiers)

Start:
95,726,040 bp from pter      End:
95,769,847 bp from pter
Size:
43,808 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: NEC1_HUMAN, P29120 (See protein sequence)
Recommended Name: Neuroendocrine convertase 1 precursor  
Size: 753 amino acids; 84152 Da
Cofactor: Calcium
Subcellular location: Cytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules
Secondary accessions: B7Z8T7 E9PHA1 P78478 Q92532
Alternative splicing: 2 isoforms:  P29120-1   P29120-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PCSK1: NX_P29120

Explore proteomics data for PCSK1 at MOPED 

Post-translational modifications:

  • UniProtKB: O-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P29120

  • 4/18 DME Specific Peptides for PCSK1 (P29120) (see all 18)
     QNEGRIV  GFGLLNA  WASGNGG  CGVGVAY 

    PCSK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PCSK1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000430.3  NP_001171346.1  NP_001171347.1  

    ENSEMBL proteins: 
     ENSP00000308024   ENSP00000421600   ENSP00000427294  
    Reactome Protein details: P29120
    Human Recombinant Protein Products for PCSK1: 
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    OriGene Protein Over-expression Lysate for PCSK1
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    Novus Biologicals PCSK1 Protein
    Novus Biologicals PCSK1 Lysate
    Sino Biological Recombinant Protein for PCSK1
    Sino Biological Cell Lysate for PCSK1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PCSK1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA8397508
    GO:0005794Golgi apparatus IBA--
    GO:0030133transport vesicle IEA--
    GO:0034774secretory granule lumen TAS--

    PCSK1 for ontologies           About GeneDecksing



    PCSK1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PCSK1 

    Assay Products for PCSK1: 
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    Cloud-Clone Corp. ELISAs for PCSK1 
    Cloud-Clone Corp. CLIAs for PCSK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     IPR000209 Peptidase_S8/S53_dom
     IPR015500 Peptidase_S8_subtilisin-rel
     IPR022398 Peptidase_S8_His-AS
     IPR008979 Galactose-bd-like
     IPR002884 PrprotnconvertsP

    Graphical View of Domain Structure for InterPro Entry P29120

    ProtoNet protein and cluster: P29120

    2 Blocks protein domains:
    IPB000209 Subtilisin serine protease family (S8) signature
    IPB002884 Proprotein convertase


    UniProtKB/Swiss-Prot: NEC1_HUMAN, P29120
    Similarity: Belongs to the peptidase S8 family. Furin subfamily


    PCSK1 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: NEC1_HUMAN, P29120
    Function: Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic
    amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin and insulin
    Catalytic activity: Release of protein hormones, neuropeptides and renin from their precursors, generally by
    hydrolysis of -Lys-Arg- - bonds

         Genatlas biochemistry entry for PCSK1:
    proprotein convertase subtilisin kexin-like 1,primarily expressed in tissues and cells containing secretory
    granules,localized in the Golgi apparatus and possibly in endosomes,specifically cleaving BDNF,susceptibility
    gene for non insulin dependent diabetes (type II) and coronary artery disease

         Enzyme Numbers (IUBMB): EC 3.4.21.931 2 EC 3.4.212

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity ----
    GO:0004252serine-type endopeptidase activity TAS--
         
    PCSK1 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pcsk1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  muscle  reproductive system 

    PCSK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PCSK1: Pcsk1tm1Mbi Pcsk1tm1Dfs

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PCSK1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PCSK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCSK1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCSK1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidPCSK1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PCSK1
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): PCSK1 (NM_001177876)
    Sino Biological Human cDNA Clone for PCSK1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCSK1
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                         Customized lentivirus expression plasmids for stable overexpression of PCSK1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCSK1


    (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 PCSK1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1)
    Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1)0.89
    Incretin Synthesis, Secretion, and Inactivation0.89
    Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)0.89
    Synthesis, Secretion, and Deacylation of Ghrelin0.46
    2Insulin Processing
    Peptide hormone metabolism0.39
    Insulin Processing0.39
    3Glycoprotein hormones
    Peptide hormone biosynthesis0.71
    4Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    5Selected targets of CREB1
    Selected targets of CREB1

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PCSK1
        Selected targets of CREB1


    1 Cell Signaling Technology (CST) Pathway for PCSK1
        Neuroscience


    5/8        Reactome Pathways for PCSK1 (see all 8)
        Peptide hormone biosynthesis
    Synthesis, Secretion, and Deacylation of Ghrelin
    Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
    Incretin Synthesis, Secretion, and Inactivation
    Insulin Processing



    PCSK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PCSK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/73 Interacting proteins for PCSK1 (P291203 ENSP000003080244) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    HIST1H2BIP628073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0007267cell-cell signaling TAS9207799
    GO:0008152metabolic process TAS9207799
    GO:0016485protein processing ----
    GO:0016486peptide hormone processing TAS--

    PCSK1 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

    PCSK1 for compounds           About GeneDecksing

    EMD Millipore small molecules for PCSK1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PCSK1 (NEC1)

    1 HMDB Compound for PCSK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 DrugBank Compounds for PCSK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin, porcine-- 9004-14-2target--17016423 17097861 12136131 1435788 17139284
    Insulin Regular -- 11061-68-0target--17139284 17016423

    10/25 Novoseek inferred chemical compound relationships for PCSK1 gene (see all 25)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spc3 90.8 63 8376387 (12), 9523585 (9), 7724604 (8), 7768927 (3) (see all 9)
    proglucagon 81.4 35 7730317 (5), 11145564 (4), 7864855 (3), 9528943 (3) (see all 7)
    peptidylglycine 80.5 5 1791845 (2), 1843282 (1), 10455138 (1), 9389490 (1)
    pro-oxytocin 77.3 2 9523585 (2)
    preproinsulin 65.9 1 8522057 (1)
    acth 63.1 23 11148335 (2), 9971741 (2), 10630414 (2), 7805649 (1) (see all 16)
    prosomatostatin 62.2 6 8095501 (5)
    oxyntomodulin 56.6 5 7864855 (3), 7730317 (1), 9528943 (1)
    i-app 56.6 5 10931181 (1), 8557106 (1), 16873681 (1), 15802374 (1)
    c-peptide 48.5 11 9166668 (2), 15939230 (1), 8666140 (1), 8792089 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about PCSK1 / NEC1

    (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 PCSK1 gene (3 alternative transcripts): 
    NM_000439.4  NM_001177875.1  NM_001177876.1  

    Unigene Cluster for PCSK1:

    Proprotein convertase subtilisin/kexin type 1
    Hs.78977  [show with all ESTs]
    Unigene Representative Sequence: NM_000439
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311106(uc010jbi.2 uc021ybq.1 uc003kls.2) ENST00000513085
    ENST00000508626 ENST00000509190

    miRNA
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    8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate PCSK1 (see all 40):
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    Additional mRNA sequence: 

    AB208874.1 AK303888.1 AK308575.1 BC031211.1 BC130295.1 BC136486.1 M90753.1 X64810.1 

    4 DOTS entries:

    DT.314072  DT.95128365  DT.91755004  DT.99999154 

    24/90 AceView cDNA sequences (see all 90):

    X64810 BM126763 BI439609 BM272204 NM_000439 F02291 BQ477459 BM052715 
    AI298534 AA211058 BQ128218 BM052994 BX957029 CK825003 BM661511 AW241396 
    AA947930 CK825002 AA987979 F06475 BQ268327 BQ128355 BU948141 AU279646 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PCSK1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                                        -                                                         
    SP2:        -                                                                                                         
    SP3:                                                                    -                                             


    ECgene alternative splicing isoforms for PCSK1

    (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

    PCSK1 expression in normal human tissues (normalized intensities)      PCSK1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGGTCTTG
    PCSK1 Expression
    About this image


    PCSK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Pancreas (Endocrine System)    fully expand to see all 5 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
             Islets of Langerhans
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
             pancreas ; exocrine glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Epithelium
             esophagus ; squamous epithelial cells   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart muscle ; myocytes   
             mouse/organ system/cardiovascular system   

    See PCSK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PCSK1

    SOURCE GeneReport for Unigene cluster: Hs.78977
        SABiosciences Custom PCR Arrays for PCSK1
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    (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 animals and fungi.

    Orthologs for PCSK1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcsk11 , 5 proprotein convertase subtilisin/kexin type 11, 5 88.53(n)1
    92.56(a)1
      13 (40.63 cM)5
    185481  NM_013628.21  NP_038656.11 
     750898265 
    chicken
    (Gallus gallus)
    Aves PCSK11 proprotein convertase subtilisin/kexin type 1 76.26(n)
    83.78(a)
      769230  XM_003643060.1  XP_003643108.1 
    lizard
    (Anolis carolinensis)
    Reptilia PCSK16
    Uncharacterized protein
    67(a)
    1 ↔ 1
    2(26270945-26316326)
    zebrafish
    (Danio rerio)
    Actinopterygii pcsk11 proprotein convertase subtilisin/kexin type 1 69.68(n)
    73.99(a)
      100005716  NM_001137662.1  NP_001131134.1 
    worm
    (Caenorhabditis elegans)
    Secernentea kpc-13 Furin like serine protease 47(a)
    (best of 3)
        --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KEX26
    Subtilisin-like protease (proprotein convertase), ...
    26(a)
    1 → many
    XIV(202428-204872)


    ENSEMBL Gene Tree for PCSK1 (if available)
    TreeFam Gene Tree for PCSK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCSK1 gene
    PCSK22  PCSK42  PCSK62  FURIN2  PCSK72  PCSK52  
    6 SIMAP similar genes for PCSK1 using alignment to 3 protein entries:     NEC1_HUMAN (see all proteins):
    PCSK6    PCSK2    PCSK4    PCSK5    PCSK7    FURIN

    PCSK1 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

    UniProtKB/Swiss-Prot: NEC1_HUMAN, P29120
    Polymorphism: Genetic variations in PCSK1 define the body mass index quantitative trait locus 12 (BMIQ12)
    [MIM:612362]. Variance in body mass index is a susceptibility factor for obesity


    10/1031 SNPs in PCSK1 are shown (see all 1031)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0550024
    Proprotein convertase 1 deficiency (PC1 deficiency)4--see VAR_0550022 S L mis40--------
    VAR_0227784
    Proprotein convertase 1 deficiency (PC1 deficiency)4--see VAR_0227782 G R mis40--------
    rs62321,2,4
    C,F,Hother196034939(-) AAGCAA/GATAAT 4 N D mis117Minor allele frequency- G:0.04MN NA NS EA EU 7708
    rs2004854101,2
    C--90937964(+) CTTCTC/TCTCAT 3 -- int10--------
    rs38348161,2
    C--90960296(+) ttttt-/TTTT  
            
    gttgt
    1 -- us2k10--------
    rs30339641,2
    C--95727967(+) AGAAG-/AAGGAGAA 3 -- cds1 trp30--------
    rs1123761221,2
    C--95731344(+) CTGTCG/AGGGAG 3 -- int11Minor allele frequency- A:0.50WA 2
    rs1131834821,2
    C--95731348(+) CAGGGG/AGTAGG 3 -- int11Minor allele frequency- A:0.50WA 2
    rs106639061,2
    C--95731549(+) AATAAAA/-GAGGT 3 -- int11Minor allele frequency- -:0.50NA 2
    rs113684711,2
    C--95751509(+) TTTTTT/-CCTGC 2 -- int1 trp32Minor allele frequency- -:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for PCSK1 (95726040 - 95769847 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PCSK1: --

    Human Gene Mutation Database (HGMD): PCSK1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PCSK1

    (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: 162150   
    OMIM disorders: 600955  612362  
    UniProtKB/Swiss-Prot: NEC1_HUMAN, P29120
  • Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]: Characterized by obesity, hypogonadism,
    hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to
    impaired processing of prohormones. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 20/36 diseases for PCSK1 (see all 36):    About MalaCards
    obesity with impaired prohormone processing    proprotein convertase-1 deficiency    monogenic non-syndromic obesity, autosomal recessive    hypoadrenalism
    scabies    obesity    acth deficiency    islet cell tumor
    glucagonoma    kallmann syndrome    addison's disease    hypogonadotropism
    hypogonadism    pancreatic endocrine tumor    insulinoma    dwarfism
    pituitary tumors    gestational diabetes    pituitary adenoma    pheochromocytoma


    PCSK1 for disorders           About GeneDecksing


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

    10/23 Novoseek inferred disease relationships for PCSK1 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kallmann syndrome 63.9 4 11079449 (1), 12536356 (1)
    adpkd 56.8 10 16014040 (1), 17008358 (1), 11302751 (1), 11786542 (1) (see all 7)
    glucagonoma 51.4 1 7829629 (1)
    addisons disease 50.8 6 11079449 (1), 17191030 (1), 18493131 (1), 17986825 (1)
    insulinoma 48.3 2 9870681 (2)
    islet cell tumor 47.5 1 11484919 (1)
    acth deficiency 46.1 1 11148335 (1)
    pituitary tumors 45.6 4 14709802 (2), 7747813 (1)
    pituitary adenoma 41.6 16 11081197 (4), 7747813 (2), 14709802 (1), 9521468 (1) (see all 5)
    carcinoid 33.7 4 9610384 (1), 10511466 (1), 11579679 (1)

    Genetic Association Database (GAD): PCSK1
    Human Genome Epidemiology (HuGE) Navigator: PCSK1 (26 documents)

    Export disorders for PCSK1 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 PCSK1 gene, integrated from 9 sources (see all 288):
    (articles sorted by number of sources associating them with PCSK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. (PubMed id 9207799)1, 2, 4, 9 Jackson R.S.... O'Rahilly S. (1997)
    2. Common nonsynonymous variants in PCSK1 confer risk of obesity. (PubMed id 18604207)1, 2, 4 Benzinou M.... Froguel P. (2008)
    3. Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM. (PubMed id 8666140)1, 2, 9 Ohagi S.... Nanjo K. (1996)
    4. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. (PubMed id 14617756)1, 2, 9 Jackson R.S.... O'Rahilly S. (2003)
    5. Neuroendocrine-specific expression of the human prohormone convertase 1 gene. Hormonal regulation of transcription through distinct cAMP response elements. (PubMed id 7797529)1, 2, 9 Jansen E. (1995)
    6. Chromosomal assignments of the genes for neuroendocrine convertase PC1 (NEC1) to human 5q15-21, neuroendocrine convertase PC2 (NEC2) to human 20p11.1-11.2, and furin (mouse 7[D1-E2] region). (PubMed id 1765368)1, 3, 9 Seidah N.G....Chretien M. (1991)
    7. Meta-analysis identifies common variants associated wi th body mass index in east Asians. (PubMed id 22344219)1, 4 Wen W....Shu X.O. (2012)
    8. Genome-wide association identifies nine common variant s associated with fasting proinsulin levels and provides new insights into the p athophysiology of type 2 diabetes. (PubMed id 21873549)1, 4 Strawbridge R.J....Florez J.C. (2011)
    9. Evaluating the discriminative power of multi-trait ge netic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (2010)
    10. Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population. (PubMed id 20498726)1, 4 Qi Q....Lin X. (2010)

    (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: 5122 HGNC: 8743 AceView: PCSK1 Ensembl:ENSG00000175426 euGenes: HUgn5122
    ECgene: PCSK1 H-InvDB: PCSK1

    (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 PCSK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PCSK1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PCSK1 gene:
    Search GeneIP for patents involving PCSK1

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



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    About This Section

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