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PCSK7 Gene

protein-coding   GIFtS: 64
GCID: GC11M117075

Proprotein Convertase Subtilisin/Kexin Type 7

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Proprotein Convertase Subtilisin/Kexin Type 71 2     SPC72 3
LPC2 3 5     Prohormone Convertase PC72
PC72 3 5     Proprotein Convertase PC72
PC82 3 5     EC 3.4.21.-3
Lymphoma Proprotein Convertase2 3     hPC83
Prohormone Convertase 72 3     EC 3.4.218
Proprotein Convertase 72 3     EC 3.4.21.618
Proprotein Convertase 82 3     EC 3.4.21.758
Subtilisin/Kexin-Like Protease PC72 3     EC 3.4.21.938

External Ids:    HGNC: 87481   Entrez Gene: 91592   Ensembl: ENSG000001606137   OMIM: 6048725   UniProtKB: Q165493   

Export aliases for PCSK7 gene to outside databases

Previous GC identifers: GC11M119428 GC11M118587 GC11M117109 GC11M116613 GC11M116581 GC11M113008


(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 PCSK7 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. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine,
liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then
sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the
catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave
their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible
for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the
transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A
t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its
inverted counterpart. (provided by RefSeq, Feb 2014)

GeneCards Summary for PCSK7 Gene:
PCSK7 (proprotein convertase subtilisin/kexin type 7) is a protein-coding gene. Diseases associated with PCSK7 include severe acute respiratory syndrome, and dementia. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PCSK2.

UniProtKB/Swiss-Prot: PCSK7_HUMAN, Q16549
Function: Likely to represent a ubiquitous endoprotease activity within constitutive secretory pathways and
capable of cleavage at the RXXX[KR]R consensus motif

Gene Wiki entry for PCSK7 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PCSK7 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCSK7 promoter sequence
   Search Chromatin IP Primers for PCSK7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PCSK7


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

Entrez Gene cytogenetic band: 11q23-q24   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23-q24

PCSK7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCSK7 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M117075:  view genomic region     (about GC identifiers)

Start:
117,075,053 bp from pter      End:
117,103,241 bp from pter
Size:
28,189 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PCSK7_HUMAN, Q16549 (See protein sequence)
Recommended Name: Proprotein convertase subtilisin/kexin type 7 precursor  
Size: 785 amino acids; 86247 Da
Cofactor: Calcium (By similarity)
Secondary accessions: B0YJ60 Q3C1X1 Q53GM4 Q96FK8 Q9UL57

Explore the universe of human proteins at neXtProt for PCSK7: NX_Q16549

Explore proteomics data for PCSK7 at MOPED

Post-translational modifications: 

  • Cysteine residues in the cytoplasmic tail are probably palmitoylated1
  • N-glycosylated1
  • Glycosylation2 at Asn167, Asn175, Asn241, Asn511
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PCSK7 (Q16549) (see all 7)
     LTWRDVQ  GFGLLNA  GTSAAAP  HGTRCAGE 


    See PCSK7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004707.2  
    ENSEMBL proteins: 
     ENSP00000325917   ENSP00000431181   ENSP00000433841   ENSP00000436459   ENSP00000433252  
     ENSP00000441944  

    PCSK7 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PCSK7
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    Novus Biologicals PCSK7 Proteins
    Novus Biologicals PCSK7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PCSK7

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    Abcam antibodies for PCSK7 (Q96FK8, Q16549)
    Cloud-Clone Corp. Antibodies for PCSK7
    Search ThermoFisher Antibodies for PCSK7
    LSBio Antibodies in human, mouse, rat for PCSK7

    PCSK7 Assay Products:

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    Cloud-Clone Corp. CLIAs for PCSK7


    (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 7):
     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 Q16549

    ProtoNet protein and cluster: Q16549

    2 Blocks protein domains:
    IPB000209 Subtilisin serine protease family (S8) signature
    IPB002884 Proprotein convertase


    UniProtKB/Swiss-Prot: PCSK7_HUMAN, Q16549
    Similarity: Belongs to the peptidase S8 family
    Similarity: Contains 1 homo B/P domain


    PCSK7 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PCSK7_HUMAN, Q16549
    Function: Likely to represent a ubiquitous endoprotease activity within constitutive secretory pathways and
    capable of cleavage at the RXXX[KR]R consensus motif
    Catalytic activity: Release of mature proteins from their proproteins by cleavage of Arg-Xaa-Xaa-Xaa-Yaa-Arg- -Zaa
    bonds, where Xaa can be any amino acid and Yaa is Arg or Lys
    Enzyme regulation: Inhibited by zinc and copper (By similarity)

         Genatlas biochemistry entry for PCSK7:
    proprotein convertase subtilisin/Rev in type 7,widely expressed

         Enzyme Numbers (IUBMB): EC 3.4.21.932 EC 3.4.212 EC 3.4.21.752 EC 3.4.21.612 EC 3.4.21.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IBA--
         
    PCSK7 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pcsk7):
     homeostasis/metabolism  mortality/aging 

    PCSK7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pcsk7tm1Rob for PCSK7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PCSK7
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    miRNA
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    miRTarBase miRNAs that target PCSK7:
    hsa-mir-652-3p (MIRT039521)

    Block miRNA regulation of human, mouse, rat PCSK7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PCSK7 (see all 16):
    hsa-miR-320a hsa-miR-3678-3p hsa-miR-4311 hsa-miR-125a-5p hsa-miR-3125 hsa-miR-3916 hsa-miR-298 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidPCSK7 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PCSK7
    Predesigned siRNA for gene silencing in human, mouse, rat PCSK7

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    GenScript: all cDNA clones in your preferred vector: PCSK7 (NM_004716)
    Sino Biological Human cDNA Clone for PCSK7
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCSK7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCSK7

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCSK7


    (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
    PCSK7_HUMAN, Q16549: Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein (By
    similarity). Note=Seems to be localized intracellularly to the trans Golgi network (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane3
    extracellular2
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030173integral component of Golgi membrane IDA9341152

    PCSK7 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PCSK7
    Interactions:

        GeneGlobe Interaction Network for PCSK7

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

    Selected Interacting proteins for PCSK7 (Q165492, 3 ENSP000003259174) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA5P110213, ENSP000003241734I2D: score=2 STRING: ENSP00000324173
    PABPC1P119403, ENSP000003130074I2D: score=2 STRING: ENSP00000313007
    PMCHP203823, ENSP000003322254I2D: score=1 STRING: ENSP00000332225
    HNRNPDQ141033, ENSP000003131994I2D: score=2 STRING: ENSP00000313199
    SYNCRIPO605063, ENSP000003586354I2D: score=2 STRING: ENSP00000358635
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0016486peptide hormone processing NAS9341152

    PCSK7 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PCSK7

    2 HMDB Compounds for PCSK7    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    CopperCu (see all 2)7440-50-8--

    3 Novoseek inferred chemical compound relationships for PCSK7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 46.1 3 10964928 (1), 20164418 (1)
    arginine 11.5 3 9341152 (1), 17012622 (1)
    calcium 0 1 10433221 (1)



    PCSK7 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PCSK7 gene: 
    NM_004716.3  

    Unigene Cluster for PCSK7:

    Proprotein convertase subtilisin/kexin type 7
    Hs.648612  [show with all ESTs]
    Unigene Representative Sequence: AL832809
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320934(uc001pqr.3) ENST00000534529 ENST00000529458(uc001pqs.1)
    ENST00000527037 ENST00000527861 ENST00000532810 ENST00000531573 ENST00000533135
    ENST00000528973 ENST00000528217 ENST00000525027 ENST00000524507 ENST00000532301
    ENST00000530269 ENST00000540028
    miRNA
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    Block miRNA regulation of human, mouse, rat PCSK7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PCSK7 (see all 16):
    hsa-miR-320a hsa-miR-3678-3p hsa-miR-4311 hsa-miR-125a-5p hsa-miR-3125 hsa-miR-3916 hsa-miR-298 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidPCSK7 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PCSK7
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PCSK7 (NM_004716)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCSK7
    Primer
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    OriGene qPCR primer pairs and template standards for PCSK7
    OriGene qSTAR qPCR primer pairs in human, mouse for PCSK7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PCSK7
      QuantiTect SYBR Green Assays in human, mouse, rat PCSK7
      QuantiFast Probe-based Assays in human, mouse, rat PCSK7

    Additional mRNA sequence: 

    AB231710.1 AB231711.2 AB231712.1 AK097207.1 AK126420.1 AK222907.1 AK312429.1 AL832809.1 
    BC006357.2 BC010696.1 BT006870.1 U33849.1 U40623.1 

    Selected DOTS entries (see all 29):

    DT.100805943  DT.95073168  DT.120753132  DT.100805935  DT.120753308  DT.421136  DT.100805934  DT.95207334 
    DT.317204  DT.120753314  DT.120753091  DT.120753371  DT.120753105  DT.120753304  DT.120753332  DT.40192740 
    DT.100747809  DT.92013082  DT.100805938  DT.120753048  DT.120753275  DT.92062352  DT.95162486  DT.95303278 

    Selected AceView cDNA sequences (see all 330):

    BC010696 BM263155 AA311512 BU846041 AW196046 AI915851 AA314366 CA416722 
    AI272903 AA809823 CK820286 BM928795 BM142371 AW173617 AI926778 BM976926 
    CA424176 NM_004716 AI085677 AI473301 BT006870 BU753860 CF264978 CR611459 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PCSK7 (see all 19)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ·
    SP1:                                -     -                                                           -                                                         
    SP2:                                                                                                  -                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 13c · 13d ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c · 21d ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c
    SP1:        -                 -                             -     -           -     -     -           -     -                                       
    SP2:        -                 -                             -     -           -     -     -     -     -     -     -                                 
    SP3:                          -                             -     -           -     -     -                                                         
    SP4:        -                 -                                                                                                                     
    SP5:                          -                                                                                                                     


    ECgene alternative splicing isoforms for PCSK7

    (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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    PCSK7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGAGGAGA
    PCSK7 Expression
    About this image

    PCSK7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCSK7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.648612

    UniProtKB/Swiss-Prot: PCSK7_HUMAN, Q16549
    Tissue specificity: Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral
    blood leukocyte

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCSK7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PCSK7 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcsk71 , 5 proprotein convertase subtilisin/kexin type 71, 5 86.39(n)1
    87.78(a)1
      9 (25.32 cM)5
    185541  NM_001281934.11  NP_001268863.11 
     459065695 
    chicken
    (Gallus gallus)
    Aves PCSK71 proprotein convertase subtilisin/kexin type 7 76.96(n)
    83.68(a)
      395455  NM_001030357.1  NP_001025528.1 
    lizard
    (Anolis carolinensis)
    Reptilia PCSK76
    proprotein convertase subtilisin/kexin type 7
    79(a)
    1 ↔ 1
    GL343949.1(108247-116549)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pcsk71 proprotein convertase subtilisin/kexin type 7 67.65(n)
    72.9(a)
      100492320  XM_002932907.2  XP_002932953.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pcsk71 proprotein convertase subtilisin/kexin type 7 68.21(n)
    70.56(a)
      100009656  NM_001083025.1  NP_001076494.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KEX2(YNL238W)4 Subtilisin-like protease (proprotein convertase), a more   --   14(202428-204872) 855483  NP_014161.1 


    ENSEMBL Gene Tree for PCSK7 (if available)
    TreeFam Gene Tree for PCSK7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PCSK7 gene
    PCSK22  PCSK42  PCSK62  FURIN2  PCSK12  PCSK52  
    6 SIMAP similar genes for PCSK7 using alignment to 5 protein entries:     PCSK7_HUMAN (see all proteins):
    PCSK5    PCSK6    PCSK2    PCSK1    FURIN    PCSK4

    PCSK7 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PCSK7
    PGOHUM00000242905


    (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 PCSK7 (see all 693)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1400187061,2
    --117076035(+) GCAGT-/GGGCTC 1 -- ut310--------
    rs2021633501,2
    C--117076035(-) GAGCCA/CCNNNN 1 -- ut310--------
    rs1411690081,2
    --117076149(+) CAGCTC/GTGCCG 1 -- ut310--------
    rs1150129601,2
    C,F--117076208(+) CATGGT/ATGGTT 1 -- ut311Minor allele frequency- A:0.05WA 118
    rs1861041711,2
    --117076269(+) AGGCAC/TGTCCA 1 -- ut310--------
    rs783019051,2
    C,F--117076336(+) TTCCAT/CTGAGA 1 -- ut312Minor allele frequency- C:0.03NA EA 240
    rs1391054931,2
    --117076378(+) ACTTAC/TATGTG 1 -- ut310--------
    rs1909203421,2
    --117076391(+) AAGGGC/GTCCCC 1 -- ut310--------
    rs12421271,2
    C,F,O,A,H--117076564(-) AATGGT/CGGAGG 1 -- ut31 ese317Minor allele frequency- C:0.49MN NS EA NA WA 2238
    rs351862511,2
    C,F--117076708(+) GGCCCT/CGAGGT 1 -- ut311Minor allele frequency- C:0.13EU 277

    HapMap Linkage Disequilibrium report for PCSK7 (117075053 - 117103241 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PCSK7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv524270CNV Loss19592680
    nsv7223OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PCSK7
    DNA2.0 Custom Variant and Variant Library Synthesis for PCSK7

    (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: 604872    OMIM disorders: --

    8 diseases for PCSK7:    
    About MalaCards
    severe acute respiratory syndrome    dementia    rhabdomyosarcoma    ovarian cancer
    hiv-1    breast cancer    neuronitis    prostatitis


    PCSK7 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for PCSK7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon carcinoma 36.2 2 18064302 (1), 12782675 (1)
    lymphoma 21.9 9 11104692 (2), 9341152 (2), 10964928 (1), 8564950 (1)
    cancer 12.9 1 18664504 (1)
    tumors 0.802 4 9185698 (2), 17641413 (1)
    immunodeficiency 0 1 10567353 (1)

    Genetic Association Database (GAD): PCSK7
    Human Genome Epidemiology (HuGE) Navigator: PCSK7 (1 document)

    Export disorders for PCSK7 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 PCSK7 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with PCSK7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PC8, a new member of the convertase family. (PubMed id 8615762)1, 2, 3, 9 Bruzzaniti A.... Gillespie M.T. (Biochem. J. 1996)
    2. Biosynthesis, distinct post-translational modifications, and functional characterization of lymphoma proprotein convertase. (PubMed id 9341152)1, 2, 9 Van de Loo J.-W.H.P.... Van de Ven W.J.M. (J. Biol. Chem. 1997)
    3. Molecular analysis of an unstable genomic region at chromosome band 11q23 reveals a disruption of the gene encoding the alpha2 subunit of platelet-activating factor acetylhydrolase (Pafah1a2) in human lymphoma. (PubMed id 10362256)1, 2, 9 Lecointe N.... Young B.D. (Oncogene 1999)
    4. A new member of the proprotein convertase gene family (LPC) is located at a chromosome translocation breakpoint in lymphomas. (PubMed id 8564950)1, 2, 9 Meerabux J.... Young B.D. (Cancer Res. 1996)
    5. Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. (PubMed id 21943158)1, 4 Middelberg R.P....Whitfield J.B. (BMC Med. Genet. 2011)
    6. Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. (PubMed id 21149283)1, 4 Oexle K....Meitinger T. (Hum. Mol. Genet. 2011)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Gene organization and alternative splicing of human prohormone convertase PC8. (PubMed id 9820811)1, 3 Goodge K.A....Gillespie M.T. (Biochem. J. 1998)
    9. Dynamic palmitoylation of lymphoma proprotein convertase prolongs its half-life, but is not essential for trans-Golgi network localization. (PubMed id 11104692)1, 9 van de Loo J.W....Creemers J.W. (Biochem. J. 2000)
    10. Post-endoplasmic reticulum rescue of unstable MHC class I requires proprotein convertase PC7. (PubMed id 20164418)1, 9 Leonhardt R.M....Knittler M.R. (J. Immunol. 2010)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9159 HGNC: 8748 AceView: PCSK7 Ensembl:ENSG00000160613 euGenes: HUgn9159
    ECgene: PCSK7 H-InvDB: PCSK7

    (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 PCSK7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PCSK7 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PCSK7 gene:
    Search GeneIP for patents involving PCSK7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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