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PCSK1 Gene

protein-coding   GIFtS: 69
GCID: GC05M095751

Proprotein Convertase Subtilisin/Kexin Type 1


(Previous symbol: NEC1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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     EC 3.4.21.933 8
NEC11 2 3 5     BMIQ122 5
Prohormone Convertase 11 2 3     PC32 5
PC12 3 5     SPC32
Proprotein Convertase 11 3     NEC 13
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:         

Export aliases for PCSK1 gene to outside databases

Previous GC identifers: GC05M094956 GC05M096190 GC05M095754 GC05M095800 GC05M090916


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PCSK1 Gene:
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that
process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory
pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a
heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes
place and the catalytic activity is acquired. The protease is packaged into and activated in dense core secretory
granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino
acid-specific members which cleave their substrates at single or paired basic residues. It functions in the
proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been
associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced
transcript variants encoding multiple isoforms have been observed for this gene (provided by RefSeq, Jan 2014)

GeneCards Summary for PCSK1 Gene:
PCSK1 (proprotein convertase subtilisin/kexin type 1) is a protein-coding gene. Diseases associated with PCSK1 include obesity bmiq12, and obesity with impaired prohormone processing. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   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 Chromatin IP Primers for PCSK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NEC1_HUMAN, P29120 (See protein sequence)
Recommended Name: Neuroendocrine convertase 1 precursor  
Size: 753 amino acids; 84152 Da
Cofactor: Calcium
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: 

  • O-glycosylated1
  • Glycosylation2 at Asn173, Asn401, Thr632, Thr640, Ser643
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PCSK1 (P29120) (see all 18)
     QNEGRIV  GFGLLNA  WASGNGG  CGVGVAY 


    See PCSK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000308024   ENSP00000421600   ENSP00000427294  
    Reactome Protein details: P29120

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

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


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pcsk1):
     adipose tissue  behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  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: Let us create your new Knockout/Knockin mouse model for PCSK1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCSK1

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    hsa-mir-26b-5p (MIRT029995)

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    Selected qRT-PCR Assays for microRNAs that regulate PCSK1 (see all 40):
    hsa-miR-607 hsa-miR-3607-3p hsa-miR-3916 hsa-miR-105 hsa-miR-3161 hsa-miR-532-5p hsa-miR-3613-3p hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidPCSK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PCSK1

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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
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NEC1_HUMAN, P29120: Cytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    golgi apparatus3
    mitochondrion2
    cytosol1
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PCSK1 About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide hormone metabolism
    Peptide hormone metabolism0.30
    Synthesis, Secretion, and Deacylation of Ghrelin0.00
    Insulin Processing0.30
    Peptide hormone biosynthesis0.00
    2Incretin Synthesis, Secretion, and Inactivation
    Incretin Synthesis, Secretion, and Inactivation0.88
    Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)0.00
    Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1)0.88
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Selected targets of CREB1
    Selected targets of CREB1
    5Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for PCSK1
        Neuroscience


    5 Reactome Pathways for PCSK1
        Peptide hormone biosynthesis
    Synthesis, secretion, and deacylation of Ghrelin
    Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
    Insulin processing
    Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)



    PCSK1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PCSK1
    Interactions:

        GeneGlobe Interaction Network for PCSK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PCSK1 (P291203 ENSP000003080244) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    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): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS9207799
    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected 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)



    PCSK1 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
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    hsa-miR-607 hsa-miR-3607-3p hsa-miR-3916 hsa-miR-105 hsa-miR-3161 hsa-miR-532-5p hsa-miR-3613-3p hsa-miR-889
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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 

    Selected AceView cDNA sequences (see all 90):

    BM126763 BQ477459 AA947930 F06475 AA211058 BQ268327 AA987979 F02291 
    AW241396 BM052715 CK825003 BX951280 BM127071 BQ128355 BU948141 AI298534 
    BX957029 CK825002 BM661511 BQ128218 BM052994 AU279646 BI439609 X64810 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PCSK1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
             Islets of Langerhans
             Pancreatic endoderm/endocrine precursor-like cells
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    PCSK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCSK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.78977
        Custom PCR Arrays for PCSK1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCSK1

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PCSK1 gene from Selected 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 76.35(n)
    83.78(a)
      769230  XM_003643060.2  XP_003643108.1 
    lizard
    (Anolis carolinensis)
    Reptilia PCSK16
    proprotein convertase subtilisin/kexin type 1
    67(a)
    1 ↔ 1
    2(26270945-26316326)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pcsk11 proprotein convertase subtilisin/kexin type 1 70.99(n)
    75.27(a)
      100496933  XM_004910458.1  XP_004910515.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pcsk11 proprotein convertase subtilisin/kexin type 1 69.72(n)
    73.99(a)
      100005716  NM_001137662.1  NP_001131134.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fur13 proteolysis and peptidolysis furin 50(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea kpc-13
    bli-41
    Furin like serine protease3
    bli-41
    47(a)
    (best of 3)3
    52.01(n)1
    48.83(a)1
      1723331  NM_001026372.51  NP_001021543.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KEX26
    Subtilisin-like protease (proprotein convertase), ...
    30(a)
    1 → many
    XIV(202428-204872) YNL238W


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    NEC1_HUMAN, P29120: 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


    Selected SNPs for PCSK1 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PCSK1
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for PCSK1 (see all 47):    
    About MalaCards
    obesity bmiq12    obesity with impaired prohormone processing    proprotein convertase-1 deficiency    monogenic non-syndromic obesity, autosomal recessive
    adrenocorticotropic hormone deficiency    hypoadrenalism    scabies    islet cell tumor
    acth deficiency    glucagonoma    obesity    kallmann syndrome
    addison's disease    hypogonadotropism    hyperthyroidism    pancreatic endocrine tumors
    hypogonadism    insulinoma    dwarfism    pituitary tumors


    PCSK1 for disorders           About GeneDecksing

    Selected 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

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    PubMed articles for PCSK1 gene, integrated from 10 sources (see all 298):
    (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. (Nat. Genet. 1997)
    2. Common nonsynonymous variants in PCSK1 confer risk of obesity. (PubMed id 18604207)1, 2, 4 Benzinou M.... Froguel P. (Nat. Genet. 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. (Diabetes 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. (J. Clin. Invest. 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. (J. Biol. Chem. 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....ChrActien M. (Genomics 1991)
    7. Meta-analysis identifies common variants associated with body mass index in east Asians. (PubMed id 22344219)1, 4 Wen W....Shu X.O. (Nat. Genet. 2012)
    8. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. (PubMed id 21873549)1, 4 Strawbridge R.J....Florez J.C. (Diabetes 2011)
    9. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 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. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5122 HGNC: 8743 AceView: PCSK1 Ensembl:ENSG00000175426 euGenes: HUgn5122
    ECgene: PCSK1 H-InvDB: PCSK1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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