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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)
 Explore 36 diseases affiliated with
PCSK1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PCSK1    

Aliases
for PCSK1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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     EC 3.4.21.933 8
NEC11 2 3 5     BMIQ122 5
PC11 2 3 5     Neuroendocrine Convertase 12
PC31 2 5     Prohormone Convertase 32
SPC31 2     Proprotein Convertase 13
Prohormone Convertase 12 3     EC 3.4.218
NEC 12 3     

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

Export aliases for PCSK1 gene to outside databases

Previous GC identifers: GC05M094956 GC05M096190 GC05M095754 GC05M095800 GC05M090916


Summaries
for PCSK1 gene

(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:
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)

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)


Genomic Views
for PCSK1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  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 plasmid: PCSK1 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

Proteins
for PCSK1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • O-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    R&D Systems Recombinant & Natural Proteins for PCSK1 (Proprotein Convertase 1/PCSK1)
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    Novus Biologicals PCSK1 Protein
    Novus Biologicals PCSK1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PCSK1

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA8397508
    GO:0005791rough endoplasmic reticulum ----
    GO:0005794Golgi apparatus IBA--
    GO:0005802trans-Golgi network ----
    GO:0030133transport vesicle IEA--


    PCSK1 for ontologies           About GeneDecksing



    PCSK1 Antibody Products: 
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    Uscn Antibodies for PCSK1
    ThermoFisher Antibodies for PCSK1

    Assay Products for PCSK1: 
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    Uscn ELISAs and CLIAs for PCSK1

    Protein Domains /
    Families
    for PCSK1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PCSK1 for domains           About GeneDecksing

    5/9 InterPro domains/families (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 families:
    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


    Function
    for PCSK1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PCSK1
    8/40 QIAGEN miScript miRNA 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 plasmid: PCSK1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PCSK1 (see all 7)
    OriGene shRNA RFP: PCSK1
    OriGene siRNA: PCSK1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCSK1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PCSK1

    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for PCSK1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCSK1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity TAS--
    GO:0004252serine-type endopeptidase activity ISS--
    GO:0043559insulin binding ----
    GO:0051087chaperone binding ----


    PCSK1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for PCSK1: Pcsk1tm1Mbi Pcsk1tm1Dfs
         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


    Pathways & Interactions
    for PCSK1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
    		Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)1.00
    		Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1)0.78
    		Incretin Synthesis, Secretion, and Inactivation0.89
    		Synthesis, Secretion, and Deacylation of Ghrelin0.46
    2Insulin Processing
    		Insulin Processing1.00
    		Peptide hormone metabolism0.39
    3Neuroscience
    		Neuroscience1.00
    4Selected targets of CREB1
    		Selected targets of CREB11.00
    5Processing of Proinsulin to Insulin
    		Processing of Proinsulin to Insulin1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PCSK1
        Selected targets of CREB1


    1 Cell Signaling Technology (CST) Pathway for PCSK1
        Neuroscience

    5/10        Reactome Pathways for PCSK1 (see all 10)
        Peptide hormone biosynthesis
    Processing of Proglucagon to Glucagon-like Peptide-1
    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): 5/31 biological process terms (GO ID links to tree view) (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0006508proteolysis IEA--
    GO:0007267cell-cell signaling TAS9207799
    GO:0008152metabolic process TAS9207799
    GO:0009749response to glucose stimulus ----


    PCSK1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PCSK1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 recombinant-- 9004-10-8target--17139284 17016423

    10/25 Novoseek 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 

    Transcripts
    for PCSK1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    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 plasmid: PCSK1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PCSK1 (see all 7)
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    Clone
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    Primer
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    Additional cDNA 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 AA947930 AI298534 BM052715 BM661511 CK825002 BM272204 BX957029 
    BQ268327 AA987979 AA211058 BM052994 F02291 BX951280 F06475 AW241396 
    BM126763 AU279646 BQ128218 BI439609 CK825003 BQ128355 BU948141 NM_000439 

    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

    Expression
    for PCSK1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTGGTCTTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PCSK1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for PCSK1 gene

    (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.

    Orthologs for PCSK1 gene from 6/18 species (see all 18)    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
    		 --
    		 80(a)
    		 1 ↔ 1
    		 2(26274850-26315830)
    zebrafish
    (Danio rerio)    		 Actinopterygii pcsk11 proprotein convertase subtilisin/kexin type 1 69.68(n)
    73.99(a)    		   100005716  NM_001137662.1  NP_001131134.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 44(a)
    		 1 ↔ 1
    		 Group13.6(161993-182306)
    worm
    (Caenorhabditis elegans)    		 Secernentea kpc-13 Furin like serine protease 47(a)
    (best of 3)    		     --


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

    Paralogs
    for PCSK1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCSK1 gene
    PCSK22  PCSK42  FURIN2  PCSK62  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



    Genomic Variants
    for PCSK1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/842 NCBI SNPs in PCSK1 are shown (see all 842)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs62321,2
    		C,F,H,other177011630(-) AAGCAA/GATAAT 4 N D mis117Minor allele frequency- G:0.04MN NA NS EA EU 7708
    rs38119411,2
    		C,H--90916585(+) AGAGTG/TAACCT 3 -- ut31 ese35Minor allele frequency- T:0.00NS EA NA 422
    rs412762671,2
    		--90916736(+) TTTCCA/GGGCCA 3 -- ut310--------
    rs778000371,2
    		C,F,--90916748(+) TCTAAG/TAATTC 3 -- ut311Minor allele frequency- T:0.05WA 118
    rs105152361,2
    		C,F,H,--90916861(+) GATTCC/TGCAAG 3 -- ut31 ese317Minor allele frequency- T:0.03NS EA CSA WA 1722
    rs65569221,2
    		C,F,A,H,--90917370(+) CCTGCT/ACTAGG 3 -- ut31 ese312Minor allele frequency- A:0.04NS EA NA WA 1352
    rs30339641,2
    		C--90917969(+) AGAAG-/AAGGAGAA 3 -- ut31 trp30--------
    rs1995286251,2
    		C--90917969(+) AGAAGA/GAGAAA 3 -- ut310--------
    rs2021761331,2
    		C--90917972(-) CTGTTC/TCTCCT 3 -- ut310--------
    rs737723881,2
    		C,F,--90918387(+) GAGAAT/CTGAAA 3 -- ut313Minor allele frequency- C:0.05WA CSA 122

    HapMap Linkage Disequilibrium report for PCSK1 (95726040 - 95769847 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PCSK1: --
    Human Gene Mutation Database (HGMD): PCSK1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PCSK1
    DNA2.0 Custom Variant and Variant Library Synthesis for PCSK1

    Disorders / Diseases
    for PCSK1 gene

    (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.)
    About This Section
    PCSK1 for disorders           About GeneDecksing

    OMIM gene information: 162150   
    OMIM disorders: 600955  612362  
    UniProtKB/Swiss-Prot: NEC1_HUMAN, P29120
  • Defects in PCSK1 are the cause of proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]. PC1
    • deficiency is characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked
    small-intestinal absorptive dysfunction It is due to impaired processing of prohormones

    20/36 diseases for PCSK1 (see all 36):    About MalaCards
    proprotein convertase-1 deficiency    carcinoid tumors    obesity    obesity with impaired prohormone processing
    adrenocorticotropic hormone deficiency    islet cell tumor    acth deficiency    kallmann syndrome
    glucagonoma    pituitary tumor    pituitary adenoma    addison's disease
    hyperproinsulinemia    hypoadrenalism    pancreatic endocrine tumors    morbid obesity
    scabies    gestational diabetes    hypogonadism    insulinoma

    10/23 Novoseek 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

    Publications
    for PCSK1 gene

    (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 285):
    (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. 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)
    3. 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)
    4. 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)
    5. 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)
    6. Common nonsynonymous variants in PCSK1 confer risk of obesity. (PubMed id 18604207)1, 2 Benzinou M.... Froguel P. (2008)
    7. Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. (PubMed id 17595246)1, 2 Farooqi I.S.... Creemers J.W.M. (2007)
    8. Common polymorphisms in the genes regulating the early insulin signalling pathway: effects on weight change and the conversion from impaired glucose tolerance to Type 2 diabetes. The Finnish Diabetes Prevention Study. (PubMed id 15127203)1, 4 Laukkanen O....Laakso M. (2004)
    9. The association of the K121Q polymorphism of the plasma cell glycoprotein-1 gene with type 2 diabetes and hypertension depends on size at birth. (PubMed id 15126519)1, 4 Kubaszek A....Laakso M. (2004)
    10. PC-1 amino acid variant (K121Q) has no impact on progression of diabetic nephropathy in type 1 diabetic patients. (PubMed id 12147787)1, 4 Jacobsen P....Pedersen O. (2002)

    External Searches for PCSK1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PCSK1 gene

    (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

    Other Databases showing PCSK1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PCSK1 gene

    (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

    Intellectual Property
    for PCSK1 gene

    (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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