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

PCSK5 Gene

protein-coding   GIFtS: 62
GCID: GC09P078505

Proprotein Convertase Subtilisin/Kexin Type 5

Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Proprotein Convertase Subtilisin/Kexin Type 51 2     Prohormone Convertase 52
Proprotein Convertase 62 3     Protease PC62
Subtilisin/Kexin-Like Protease PC52 3     subtilase2
PC52 3     EC 3.4.21.-3
PC62 3     Proprotein Convertase 53
hPC62 3     EC 3.4.218
PC6A2     EC 3.4.21.618
SPC62     EC 3.4.21.758

External Ids:    HGNC: 87471   Entrez Gene: 51252   Ensembl: ENSG000000991397   OMIM: 6004885   UniProtKB: Q928243   

Export aliases for PCSK5 gene to outside databases

Previous GC identifers: GC09P069549 GC09P070362 GC09P072075 GC09P073962 GC09P075735 GC09P077695 GC09P048336


(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 PCSK5 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 mediates posttranslational endoproteolytic processing for several integrin alpha subunits.
It is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jun
2010)

GeneCards Summary for PCSK5 Gene: 
PCSK5 (proprotein convertase subtilisin/kexin type 5) is a protein-coding gene. Diseases associated with PCSK5 include nail disease, and pachyonychia congenita, and among its related super-pathways are NGF signalling via TRKA from the plasma membrane and Signaling by GPCR. GO annotations related to this gene include peptide binding and serine-type endopeptidase activity. An important paralog of this gene is PCSK2.

UniProtKB/Swiss-Prot: PCSK5_HUMAN, Q92824
Function: Likely to represent a widespread endoprotease activity within the constitutive and regulated secretory
pathway. Capable of cleavage at the RX(K/R)R consensus motif. Plays an essential role in pregnancy establishment
by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha-integrins

Gene Wiki entry for PCSK5 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_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PCSK5 gene promoter:
         Oct-B1   oct-B3   oct-B2   POU2F2   HNF-1A   POU2F1   POU2F1a   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCSK5 promoter sequence
   Search SABiosciences Chromatin IP Primers for PCSK5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCSK5


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

Entrez Gene cytogenetic band: 9q21.3   Ensembl cytogenetic band:  9q21.13   HGNC cytogenetic band: 9q21.13

PCSK5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCSK5 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P078505:  view genomic region     (about GC identifiers)

Start:
78,505,560 bp from pter      End:
78,977,255 bp from pter
Size:
471,696 bases      Orientation:
plus 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: PCSK5_HUMAN, Q92824 (See protein sequence)
Recommended Name: Proprotein convertase subtilisin/kexin type 5 precursor  
Size: 1860 amino acids; 206942 Da
Subcellular location: Isoform PC6A: Secreted. Note=Secreted through the regulated secretory pathway (By
similarity)
Subcellular location: Isoform PC6B: Endomembrane system; Single-pass type I membrane protein. Note=Type I membrane
protein localized to a paranuclear post-Golgi network compartment in communication with early endosomes (By
similarity)
Secondary accessions: F5H2G7 Q13527 Q96EP4
Alternative splicing: 2 isoforms:  Q92824-1   Q92824-2   

Explore the universe of human proteins at neXtProt for PCSK5: NX_Q92824

Explore proteomics data for PCSK5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92824

  • 4/20 DME Specific Peptides for PCSK5 (Q92824) (see all 20)
     PWYLEEC  DGYTNSI  WASGNGG  AAGIIAL 

    PCSK5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PCSK5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001177411.1  NP_006191.2  

    ENSEMBL proteins: 
     ENSP00000365958   ENSP00000365943   ENSP00000411654   ENSP00000407239   ENSP00000446280  
    Reactome Protein details: Q92824
    Human Recombinant Protein Products for PCSK5: 
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    Novus Biologicals PCSK5 Proteins
    Novus Biologicals PCSK5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PCSK5 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space ISS8940009
    GO:0005794Golgi apparatus ISS--
    GO:0005796Golgi lumen TAS--
    GO:0012505endomembrane system IEA--
    GO:0016021integral to membrane IEA--

    PCSK5 for ontologies           About GeneDecksing



    PCSK5 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for PCSK5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 InterPro protein domains (see all 11):
     IPR006212 Furin_repeat
     IPR000742 EG-like_dom
     IPR000209 Peptidase_S8/S53_dom
     IPR015500 Peptidase_S8_subtilisin-rel
     IPR022398 Peptidase_S8_His-AS

    Graphical View of Domain Structure for InterPro Entry Q92824

    ProtoNet protein and cluster: Q92824

    3 Blocks protein domains:
    IPB000209 Subtilisin serine protease family (S8) signature
    IPB002884 Proprotein convertase
    IPB006212 Furin-like repeat


    UniProtKB/Swiss-Prot: PCSK5_HUMAN, Q92824
    Domain: The propeptide domain acts as an intramolecular chaperone assisting the folding of the zymogen within the
    endoplasmic reticulum
    Domain: AC 1 and AC 2 (clusters of acidic amino acids) contain sorting information. AC 1 directs TGN localization
    and interacts with the TGN sorting protein PACS-1 (By similarity)
    Similarity: Belongs to the peptidase S8 family
    Similarity: Contains 1 homo B/P domain
    Similarity: Contains 1 PLAC domain


    PCSK5 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: PCSK5_HUMAN, Q92824
    Function: Likely to represent a widespread endoprotease activity within the constitutive and regulated secretory
    pathway. Capable of cleavage at the RX(K/R)R consensus motif. Plays an essential role in pregnancy establishment
    by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha-integrins
    Catalytic activity: Release of mature proteins from their proproteins by cleavage of Arg-Xaa-Yaa-Arg- -Zaa bonds,
    where Xaa can be any amino acid and Yaa is Arg or Lys

         Genatlas biochemistry entry for PCSK5:
    proprotein convertase subtilisin,kexin-like 5,exhibiting the presence of multiple alternative forms,expressed in
    regulated and constitutively secreting cells

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.752 EC 3.4.21.612 EC 3.4.21.-1

         Gene Ontology (GO): 5 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 IDA8901832
    GO:0005515protein binding ----
    GO:0008233peptidase activity ----
    GO:0042277peptide binding ISS8940009
         
    PCSK5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PCSK5:
     Increased gamma-H2AX phosphory 

         13 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Pcsk5):
     cardiovascular system  craniofacial  digestive/alimentary  growth/size  hematopoietic system 
     immune system  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 
     renal/urinary system  respiratory system  skeleton 

    PCSK5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PCSK5: Pcsk5tm1Dfs Pcsk5tm2.1Prat Pcsk5tm1.1Prat

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PCSK5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCSK5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCSK5 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCSK5


    (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 PCSK5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signaling by FGFR
    Signalling by NGF0.71
    2Signaling by GPCR
    Signal Transduction0.55
    3NGF processing
    NGF processing

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for PCSK5
        NGF processing
    Signal Transduction
    Signalling by NGF



    PCSK5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PCSK5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/15 Interacting proteins for PCSK5 (Q928242, 3 ENSP000003659434) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPBP2Q926242, 3, ENSP000000831824MINT-68072 I2D: score=5 STRING: ENSP00000083182
    ATN1P542592, 3, ENSP000003490764MINT-2861631 I2D: score=3 STRING: ENSP00000349076
    AMHP039713, ENSP000002214964I2D: score=1 STRING: ENSP00000221496
    PMCHP203823, ENSP000003322254I2D: score=1 STRING: ENSP00000332225
    RENP007973, ENSP000002721904I2D: score=1 STRING: ENSP00000272190
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development ISS8940009
    GO:0002001renin secretion into blood stream IEP8901832
    GO:0006465signal peptide processing IDA16912035
    GO:0006508proteolysis IEA--
    GO:0007267cell-cell signaling TAS8901832

    PCSK5 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

    PCSK5 for compounds           About GeneDecksing

    EMD Millipore small molecules for PCSK5:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PCSK5

    1 Novoseek inferred chemical compound relationship for PCSK5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 13.2 2 8620001 (1)

    Search CenterWatch for drugs/clinical trials and news about PCSK5

    (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 PCSK5 gene (2 alternative transcripts): 
    NM_001190482.1  NM_006200.3  

    Unigene Cluster for PCSK5:

    Proprotein convertase subtilisin/kexin type 5
    Hs.368542  [show with all ESTs]
    Unigene Representative Sequence: NM_001190482
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376767(uc004ajy.2) ENST00000376752(uc004ajz.3 uc004aka.3 uc004akb.3)
    ENST00000424854 ENST00000455778 ENST00000545128(uc004akc.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA sequence: 

    AK023096.1 AK056202.1 AK122718.1 AK225773.1 AK310862.1 AL834522.1 BC012064.1 U49114.1 
    U56387.2 

    12 DOTS entries:

    DT.312399  DT.100644172  DT.121188067  DT.311845  DT.91743071  DT.92046588  DT.121188127  DT.100775705 
    DT.102826294  DT.121188100  DT.86846908  DT.91872077 

    24/130 AceView cDNA sequences (see all 130):

    AI167576 AI379031 AL138118 CD519399 CD559043 AI146827 CD622141 CD622139 
    AL834522 AL138208 BM828796 U49114 AA399377 BC012064 U56387 BE166943 
    AI653419 BP346136 CD656206 AW261870 AI435197 AW960690 CK300156 CB160452 

    GeneLoc Exon Structure


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

    PCSK5 expression in normal human tissues (normalized intensities)      PCSK5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACATTTCAA
    PCSK5 Expression
    About this image


    PCSK5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Uncategorized (Uncategorized)    fully expand to see all 4 entries
             PureStem Progenitor EN7
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             S-shaped Body
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Inner Cell Mass (Early Embryonic Tissues)
             CyT49

    See PCSK5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PCSK5

    SOURCE GeneReport for Unigene cluster: Hs.368542

    UniProtKB/Swiss-Prot: PCSK5_HUMAN, Q92824
    Tissue specificity: Expressed in T-lymphocytes

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCSK5

    (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 PCSK5 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcsk51 , 5 proprotein convertase subtilisin/kexin type 51, 5 82.84(n)1
    82.11(a)1
      19 (12.86 cM)5
    185521  NM_001190483.11  NP_001177412.11 
     174328325 
    chicken
    (Gallus gallus)
    Aves PCSK51 proprotein convertase subtilisin/kexin type 5 70.35(n)
    67.89(a)
      395456  XM_424841.3  XP_424841.3 
    lizard
    (Anolis carolinensis)
    Reptilia PCSK56
    Uncharacterized protein
    61(a)
    1 ↔ 1
    2(46220104-46572270)
    zebrafish
    (Danio rerio)
    Actinopterygii pcsk5b1 proprotein convertase subtilisin/kexin type 5b 69.59(n)
    72.01(a)
      559556  NM_001083829.1  NP_001077298.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fur13
    Fur21
    proteolysis and peptidolysis furin3
    Furin 21
    51(a)
    (best of 2)3
    50.19(n)1
    43.55(a)1
      326041  NM_167506.21  NP_727963.11 
    worm
    (Caenorhabditis elegans)
    Secernentea kpc-13 Furin like serine protease 54(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 PCSK5 (if available)
    TreeFam Gene Tree for PCSK5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCSK5 gene
    PCSK22  PCSK42  PCSK62  FURIN2  PCSK12  PCSK72  
    6 SIMAP similar genes for PCSK5 using alignment to 5 protein entries:     PCSK5_HUMAN (see all proteins):
    FURIN    PCSK6    PCSK4    PCSK7    PCSK1    PCSK2

    PCSK5 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for PCSK5
    PGOHUM00000248410 PGOHUM00000261054 PGOHUM00000261055 PGOHUM00000261056 PGOHUM00000261078


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

    10/10311 SNPs in PCSK5 are shown (see all 10311)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs111446651,2
    --78387508(+) CTGCTC/TGGGAG 2 -- us2k10--------
    rs1931964931,2
    --78387583(+) TGCACC/TCCAGC 2 -- us2k10--------
    rs111446671,2
    A--78387605(+) agcgaC/Gactcc 2 -- us2k10--------
    rs111446681,2
    --78387611(+) actccA/Gtctca 2 -- us2k10--------
    rs3735231151,2
    C--78387620(+) CAAAA-/AAA   
       TAAAT
    AAATA
    1 -- us2k10--------
    rs2022451281,2
    C--78387631(+) TAAAT-/AAATAA 2 -- us2k10--------
    rs3707861321,2
    C--78387631(+) AAATA-/ATAAT/A
    TAATAATAAT
    AATAA
    2 -- us2k10--------
    rs2004093271,2
    --78387634(+) TAAAT-/AAATAA 2 -- us2k10--------
    rs2013397751,2
    --78387636(+) AAATA-/ATAATAA 2 -- us2k10--------
    rs125510541,2
    C,F,H--78387704(+) tgcgaC/Ggccaa 2 -- us2k14Minor allele frequency- G:0.38NA WA CSA 8

    HapMap Linkage Disequilibrium report for PCSK5 (78505560 - 78755560 bp, first 250kb of PCSK5)

    Structural Variations
         Database of Genomic Variants (DGV) 10/49 variations for PCSK5 (see all 49):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2670080CNV Deletion23128226
    esv2660720CNV Deletion23128226
    dgv1318e201CNV Deletion23290073
    esv1007851CNV Deletion20482838
    esv2738578CNV Deletion23290073
    esv995792CNV Deletion20482838
    esv1368287CNV Deletion17803354
    esv2738575CNV Deletion23290073
    esv2738577CNV Deletion23290073
    esv2738597CNV Deletion23290073

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PCSK5
    DNA2.0 Custom Variant and Variant Library Synthesis for PCSK5

    (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: 600488    OMIM disorders: --

    18 diseases for PCSK5:    About MalaCards
    nail disease    pachyonychia congenita    avian influenza    influenza
    plasmacytoma    teratocarcinoma    amyloidosis    vaccinia
    macular degeneration    atherosclerosis    endometriosis    infertility
    ataxia    colon cancer    alzheimer's disease    thyroiditis
    endotheliitis    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for PCSK5:
    Pachyonychia congenita     Plasmacytoma     Nail disease

    PCSK5 for disorders           About GeneDecksing


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

    6 Novoseek inferred disease relationships for PCSK5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atherosclerosis 18.7 4 16244876 (2), 15911696 (1), 15756593 (1)
    atherosclerotic plaque 15.9 1 15911696 (1)
    restenosis 10.5 2 16244876 (2)
    tumors 0 1 11457520 (1)
    influenza 0 2 10074171 (1), 8057485 (1)
    cancer 0 1 18664504 (1)

    Genetic Association Database (GAD): PCSK5
    Human Genome Epidemiology (HuGE) Navigator: PCSK5 (4 documents)

    Export disorders for PCSK5 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 PCSK5 gene, integrated from 9 sources (see all 113):
    (articles sorted by number of sources associating them with PCSK5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Proteomic identification of caldesmon as a physiologi cal substrate of proprotein convertase 6 in human uterine decidual cells essent ial for pregnancy establishment. (PubMed id 19764806)1, 2, 9 Kilpatrick L.M....Nie G. (2009)
    2. Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human. (PubMed id 7782070)1, 3, 9 Mbikay M....Simpson E.M. (1995)
    3. Genetic variation at the proprotein convertase subtil isin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels. (PubMed id 20031622)1, 4, 9 Iatan I....Genest J. (2009)
    4. Isolation of the human PC6 gene encoding the putative host protease for HIV-1 gp160 processing in CD4+ T lymphocytes. (PubMed id 8755538)1, 2, 9 Miranda L.... Franzusoff A. (1996)
    5. Cleavage of endometrial alpha-integrins into their functional forms is mediated by proprotein convertase 5/6. (PubMed id 22740495)1, 2 Paule S.... Nie G. (2012)
    6. Posttranslational activation of bone morphogenetic pr otein 2 is mediated by proprotein convertase 6 during decidualization for pregn ancy establishment. (PubMed id 20555025)1, 2 Heng S....Nie G. (2010)
    7. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (2008)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5125 HGNC: 8747 AceView: PCSK5 Ensembl:ENSG00000099139 euGenes: HUgn5125
    ECgene: PCSK5 H-InvDB: PCSK5

    (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 PCSK5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PCSK5 gene:
    Search GeneIP for patents involving PCSK5

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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