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PCSK5 Gene

protein-coding   GIFtS: 64
GCID: GC09P078505

Proprotein Convertase Subtilisin/Kexin Type 5

  See PCSK5-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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Aliases
Proprotein Convertase Subtilisin/Kexin Type 51 2     Protease PC62
Proprotein Convertase 62 3     subtilase2
Subtilisin/Kexin-Like Protease PC52 3     EC 3.4.21.-3
PC52 3     hPC63
PC62 3     Proprotein Convertase 53
PC6A2     EC 3.4.218
SPC62     EC 3.4.21.618
Prohormone Convertase 52     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PCSK5 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. It then sorts to the trans-Golgi network where a second autocatalytic event takes
place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic
amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates
posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process
prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternate splicing results
in two variants encoding distinct isoforms, a protease packaged into dense core granules (PC5A) and a type 1
membrane bound protease (PC5B). (provided by RefSeq, Jan 2014)

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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for PCSK5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: PCSK5_HUMAN, Q92824 (See protein sequence)
Recommended Name: Proprotein convertase subtilisin/kexin type 5 precursor  
Size: 1860 amino acids; 206942 Da
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: 

  • Ubiquitination2 at Lys56
  • Glycosylation2 at Asn225, Asn381, Asn665, Asn752, Asn802, Asn852, Asn1014, Asn1191, Asn1290, Asn1497,
                                 Asn1685, Asn1707
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PCSK5 (Q92824) (see all 20)
     PWYLEEC  DGYTNSI  WASGNGG  AAGIIAL 


    See PCSK5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000365958   ENSP00000365943   ENSP00000411654   ENSP00000407239   ENSP00000446280  
    Reactome Protein details: Q92824

    PCSK5 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PCSK5

     
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    Cloud-Clone Corp. ELISAs for PCSK5
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    Search eBioscience for ELISAs for PCSK5 


    (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 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


    Find genes that share domains with PCSK5           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with PCSK5           About GenesLikeMe


    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/body  hematopoietic system 
     immune system  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 
     renal/urinary system  respiratory system  skeleton 

    Find genes that share phenotypes with PCSK5           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PCSK5
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCSK5

    miRNA
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    hsa-mir-107 (MIRT048298)

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    3 qRT-PCR Assays for microRNAs that regulate PCSK5:
    hsa-miR-3618 hsa-miR-1264 hsa-miR-139-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    eBioscience FlowRNA Probe Sets ( VA1-11922) for PCSK5 


    (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
    PCSK5_HUMAN, Q92824: Isoform PC6A: Secreted. Note=Secreted through the regulated secretory pathway (By
    similarity)
    PCSK5_HUMAN, Q92824: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus4
    endoplasmic reticulum1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (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 ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PCSK5           About GenesLikeMe


    (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 PCSK5 About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling by FGFR
    Signalling by NGF0.71
    2Signaling by GPCR
    Signal Transduction0.58
    3NGF processing
    NGF processing


    Find genes that share SuperPaths with PCSK5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PCSK5
        NGF processing


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PCSK5
    Interactions:

        GeneGlobe Interaction Network for PCSK5

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

    Selected Interacting proteins for PCSK5 (Q928242, 3 ENSP000003659434) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    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): Selected biological process terms (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 ----
    GO:0007267cell-cell signaling TAS8901832

    Find genes that share ontologies with PCSK5           About GenesLikeMe



    (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 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)



    Find genes that share compounds with PCSK5           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PCSK5 gene (2 alternative transcripts): 
    NM_001190482.1  NM_006200.4  

    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)
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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 

    Selected AceView cDNA sequences (see all 130):

    AL138118 AI167576 CD622139 CD622141 AL138208 AA399377 BC012064 CD519399 
    U49114 AL834522 CD559043 AI146827 AI379031 BM828796 AW960690 CD656206 
    BX499616 CA429720 AA317669 AX805782 CB998115 AA136952 BF115403 BU622566 

    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™, 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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    PCSK5 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 11) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             S-shaped Body
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             T-Cytotoxic Cells Peripheral Blood
     
     Bone (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced SK11 cells
    PCSK5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCSK5 Protein Expression

    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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    (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.

    Orthologs for PCSK5 gene from Selected species (see all 16)    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 82.82(n)1
    82.01(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 78.78(n)
    82.68(a)
      395456  XM_424841.4  XP_424841.4 
    lizard
    (Anolis carolinensis)
    Reptilia PCSK56
    proprotein convertase subtilisin/kexin type 5
    61(a)
    1 ↔ 1
    2(46220104-46572270)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pcsk51 proprotein convertase subtilisin/kexin type 5 72.86(n)
    78.75(a)
      779961  NM_001079038.1  NP_001072506.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pcsk5a1 proprotein convertase subtilisin/kexin type 5a 57.91(n)
    53.28(a)
      571235  XM_003198677.2  XP_003198725.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fur13
    Fur21
    proteolysis and peptidolysis furin3
    Furin 21
    51(a)
    (best of 2)3
    50.57(n)1
    43.72(a)1
      326041  NM_167508.21  NP_727965.11 
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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

    Find genes that share paralogs with PCSK5           About GenesLikeMe


    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), 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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    Selected SNPs for PCSK5 (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) Selected 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

    Human Gene Mutation Database (HGMD): PCSK5
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600488    OMIM disorders: --

    4 diseases for PCSK5:    
    About MalaCards
    nail disease    pachyonychia congenita    influenza    hiv-1

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

    Find genes that share disorders with PCSK5           About GenesLikeMe

    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)
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    PubMed articles for PCSK5 gene, integrated from 10 sources (see all 119):
    (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 physiological substrate of proprotein convertase 6 in human uterine decidual cells essential for pregnancy establishment. (PubMed id 19764806)1, 2, 9 Kilpatrick L.M.... Nie G. (J. Proteome Res. 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. (Genomics 1995)
    3. Genetic variation at the proprotein convertase subtilisin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels. (PubMed id 20031622)1, 4, 9 Iatan I....Genest J. (Circ Cardiovasc Genet 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. (Proc. Natl. Acad. Sci. U.S.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. (Hum. Reprod. 2012)
    6. Posttranslational activation of bone morphogenetic protein 2 is mediated by proprotein convertase 6 during decidualization for pregnancy establishment. (PubMed id 20555025)1, 2 Heng S.... Nie G. (Endocrinology 2010)
    7. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (Nature 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Hum. Mol. Genet. 2009)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 5125 HGNC: 8747 AceView: PCSK5 Ensembl:ENSG00000099139 euGenes: HUgn5125
    ECgene: PCSK5 H-InvDB: PCSK5

    (According to HUGE)
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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)
    About This Section

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    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

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    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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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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