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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
 Explore 21 diseases affiliated with
PCSK5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PCSK5    

Aliases
for PCSK5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Proprotein Convertase Subtilisin/Kexin Type 51 2     Prohormone Convertase 52
PC51 2 3     Protease PC62
PC61 2 3     EC 3.4.21.-3
SPC61 2     Proprotein Convertase 53
Proprotein Convertase 62 3     EC 3.4.218
Subtilisin/Kexin-Like Protease PC52 3     EC 3.4.21.618
HPC61     EC 3.4.21.758
PC6A2     

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


Summaries
for PCSK5 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 PCSK5:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
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 plasmid: PCSK5 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 chromosome: 9

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

Proteins
for PCSK5 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: 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

Post-translational modifications:

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

    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: 
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    Novus Biologicals PCSK5 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn 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



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    Uscn ELISAs and CLIAs for PCSK5

    Protein Domains /
    Families
    for PCSK5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PCSK5 for domains           About GeneDecksing

    5/11 InterPro domains/families (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 families:
    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


    Function
    for PCSK5 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: 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

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: PCSK5
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for PCSK5

    In Situ Assay
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    Gene Ontology (GO): 3 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:0042277peptide binding ISS8940009


    PCSK5 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for PCSK5: Pcsk5tm1Dfs Pcsk5tm2.1Prat Pcsk5tm1.1Prat
         13 MGI mutant phenotypes (inferred from 6 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


    Pathways & Interactions
    for PCSK5 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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NGF processing
    		NGF processing1.00
    2Signaling by GPCR
    		Signal Transduction0.56
    3Signaling by FGFR
    		Signalling by NGF0.52

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for PCSK5 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

    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 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 

    Transcripts
    for PCSK5 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 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)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PCSK5
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    hsa-miR-3618 hsa-miR-1264 hsa-miR-139-5p
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PCSK5
    OriGene shRNA RFP: PCSK5
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCSK5
    Clone
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    Additional cDNA 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):

    U49114 CD622141 CD519399 CD622139 AL834522 AL138118 BC012064 AI167576 
    CD559043 BM828796 AI146827 AI379031 AA399377 AL138208 AI079572 CD622135 
    CB997601 AA380727 BP346136 AA256399 BX499616 AA779339 BU622566 AW303423 

    GeneLoc Exon Structure


    Expression
    for PCSK5 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

    PCSK5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACATTTCAA

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

    PCSK5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    KidneyRenal VesicleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    CyT49 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    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

        SABiosciences Custom PCR Arrays for PCSK5
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    In Situ
    Assay Products:     
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    Orthologs
    for PCSK5 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 PCSK5 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 59(a)
    		 1 ↔ 1
    		 2(46220104-46401600)
    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)    		     --


    ENSEMBL Gene Tree for PCSK5 (if available)
    TreeFam Gene Tree for PCSK5 (if available) 

    Paralogs
    for PCSK5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCSK5 gene
    PCSK22  PCSK42  FURIN2  PCSK62  PCSK12  PCSK72  
    7 SIMAP similar genes for PCSK5 using alignment to 5 protein entries:     PCSK5_HUMAN (see all proteins):
    FURIN    PCSK6    PCSK4    PCSK7    PCSK1    PCSK2
    ERBB4

    PCSK5 for paralogs           About GeneDecksing


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


    Genomic Variants
    for PCSK5 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

    10/8726 NCBI SNPs in PCSK5 are shown (see all 8726)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs23514661,2
    		C,F,A,--48751123(+) CCGTAT/GCCATG 1 -- int17Minor allele frequency- G:0.18NA CSA WA EA 365
    rs111446651,2
    		--78503618(+) CTGCTC/TGGGAG 2 -- us2k10--------
    rs1931964931,2
    		--78503693(+) TGCACC/TCCAGC 2 -- us2k10--------
    rs111446671,2
    		A,--78503715(+) agcgaC/Gactcc 2 -- us2k10--------
    rs111446681,2
    		--78503721(+) actccA/Gtctca 2 -- us2k10--------
    rs2022451281,2
    		--78503742(+) TAAAT-/AAATAA 2 -- us2k10--------
    rs2004093271,2
    		--78503745(+) TAAAT-/AAATAA 2 -- us2k10--------
    rs592225381,2
    		C--78503747(+) AATAA-/ATA   
       AATAA    TAATA     		2 -- us2k11Minor allele frequency- ATAAATAA:0.00NA 2
    rs2013397751,2
    		--78503747(+) AAATA-/ATAATAA 2 -- us2k10--------
    rs125510541,2
    		C,F,H,--78503815(+) 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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for PCSK5
         2 CNVs: 70730 7749
         5 Indels: 100673 60751 47737 29188 41183

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    Disorders / Diseases
    for PCSK5 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
    PCSK5 for disorders           About GeneDecksing

    OMIM gene information: 600488    OMIM disorders: --

    20/21 diseases for PCSK5 (see all 21):    About MalaCards
    pachyonychia congenita    avian influenza    currarino syndrome    macular degeneration
    plasmacytoma    influenza    teratocarcinoma    amyloidosis
    vaccinia    atherosclerosis    alzheimer's disease    endometriosis
    colon cancer    pharyngitis    infertility    ataxia
    cholesterol    immunodeficiency    thyroiditis    neuronitis

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

    6 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PCSK5 (4 documents)

    Export disorders for PCSK5 gene to outside databases

    Publications
    for PCSK5 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 PCSK5 gene, integrated from 9 sources (see all 106):
    (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. 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)
    4. 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)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Inhibiting uterine PC6 blocks embryo implantation: an obligatory role for a proprotein convertase in fertility. (PubMed id 15601911)1, 9 Nie G....Salamonsen L.A. (2005)
    8. Increased proteolytic processing of protein tyrosine phosphatase mu in confluent vascular endothelial cells: the role of PC5, a member of the subtilisin family. (PubMed id 8620001)1, 9 Campan M....Haber E. (1996)
    9. Furin-like proprotein convertases are central regulators of the membrane type matrix metalloproteinase-pro-matrix metalloproteinase-2 proteolytic cascade in atherosclerosis. (PubMed id 15911696)1, 9 Stawowy P....Graf K. (2005)
    10. Single-nucleotide polymorphisms of the proprotein convertase subtilisin/ kexin type 5 (PCSK5) gene. (PubMed id 11776387)1, 9 Cao H....Hegele R.A. (2001)

    External Searches for PCSK5 gene

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

    Genome Databases showing PCSK5 gene

    (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

    Other Databases showing PCSK5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PCSK5 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 PCSK5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PCSK5 gene

    (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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