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Aliases for PCSK7 Gene

Aliases for PCSK7 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 7 2 3
  • Subtilisin/Kexin-Like Protease PC7 3 4
  • Lymphoma Proprotein Convertase 3 4
  • Prohormone Convertase 7 3 4
  • Proprotein Convertase 7 3 4
  • Proprotein Convertase 8 3 4
  • Spc7 3 4
  • LPC 3 4
  • PC7 3 4
  • PC8 3 4
  • Proprotein Convertase Subtilisin/Kexin Type 7 Precursor Variant 2 3
  • Prohormone Convertase PC7 3
  • Proprotein Convertase PC7 3
  • EC 3.4.21.75 63
  • EC 3.4.21.93 63
  • EC 3.4.21.61 63
  • EC 3.4.21.- 4
  • EC 3.4.21 63
  • HPC8 4

External Ids for PCSK7 Gene

Previous GeneCards Identifiers for PCSK7 Gene

  • GC11M119428
  • GC11M118587
  • GC11M117109
  • GC11M116613
  • GC11M116581
  • GC11M113008
  • GC11M117075

Summaries for PCSK7 Gene

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 plantar fasciitis and carpal tunnel syndrome, familial. GO annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is PCSK1.

UniProtKB/Swiss-Prot for PCSK7 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCSK7 Gene

Genomics for PCSK7 Gene

Regulatory Elements for PCSK7 Gene

Transcription factor binding sites by QIAGEN in the PCSK7 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PCSK7 Gene

Chromosome:
11
Start:
117,204,337 bp from pter
End:
117,232,525 bp from pter
Size:
28,189 bases
Orientation:
Minus strand

Genomic View for PCSK7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCSK7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK7 Gene

Proteins for PCSK7 Gene

  • Protein details for PCSK7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16549-PCSK7_HUMAN
    Recommended name:
    Proprotein convertase subtilisin/kexin type 7
    Protein Accession:
    Q16549
    Secondary Accessions:
    • B0YJ60
    • Q3C1X1
    • Q53GM4
    • Q96FK8
    • Q9UL57

    Protein attributes for PCSK7 Gene

    Size:
    785 amino acids
    Molecular mass:
    86247 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

neXtProt entry for PCSK7 Gene

Proteomics data for PCSK7 Gene at MOPED

Selected DME Specific Peptides for PCSK7 Gene

Post-translational modifications for PCSK7 Gene

Other Protein References for PCSK7 Gene

Antibody Products

Domains & Families for PCSK7 Gene

Gene Families for PCSK7 Gene

Graphical View of Domain Structure for InterPro Entry

Q16549

UniProtKB/Swiss-Prot:

PCSK7_HUMAN :
  • Contains 1 peptidase S8 domain.
  • Belongs to the peptidase S8 family.
Domain:
  • Contains 1 peptidase S8 domain.
Family:
  • Belongs to the peptidase S8 family.
genes like me logo Genes that share domains with PCSK7: view

Function for PCSK7 Gene

Molecular function for PCSK7 Gene

GENATLAS Biochemistry:
proprotein convertase subtilisin/Rev in type 7,widely expressed
UniProtKB/Swiss-Prot CatalyticActivity:
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
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by zinc and copper.
UniProtKB/Swiss-Prot Function:
Likely to represent a ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RXXX[KR]R consensus motif

Enzyme Numbers (IUBMB) for PCSK7 Gene

Gene Ontology (GO) - Molecular Function for PCSK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IBA --
GO:0008233 peptidase activity IDA 15606899
genes like me logo Genes that share ontologies with PCSK7: view

Phenotypes for PCSK7 Gene

genes like me logo Genes that share phenotypes with PCSK7: view

Animal Models for PCSK7 Gene

MGI Knock Outs for PCSK7:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for PCSK7 Gene

Localization for PCSK7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK7 Gene

Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Note=Seems to be localized intracellularly to the trans Golgi network. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCSK7 Gene COMPARTMENTS Subcellular localization image for PCSK7 gene
Compartment Confidence
golgi apparatus 5
nucleus 3
extracellular 2
chloroplast 1
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PCSK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030173 integral component of Golgi membrane IDA 9341152
genes like me logo Genes that share ontologies with PCSK7: view

Pathways & Interactions for PCSK7 Gene

SuperPathways for PCSK7 Gene

No Data Available

SIGNOR curated interactions for PCSK7 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for PCSK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0016485 protein processing IDA 15606899
GO:0016486 peptide hormone processing NAS 9341152
genes like me logo Genes that share ontologies with PCSK7: view

No data available for Pathways by source for PCSK7 Gene

Drugs & Compounds for PCSK7 Gene

(4) Drugs for PCSK7 Gene - From: HMDB and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0
Copper Pharma 143
arginine Nutra 346
serine Nutra 420
genes like me logo Genes that share compounds with PCSK7: view

Transcripts for PCSK7 Gene

Unigene Clusters for PCSK7 Gene

Proprotein convertase subtilisin/kexin type 7:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCSK7

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK7 Gene

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:
SP6:
SP7: -
SP8: - - -
SP9:
SP10: - - - - -
SP11: - - - - - - - - - -
SP12:
SP13: - - - - - -
SP14:
SP15: - - - - -
SP16: -
SP17:
SP18:
SP19:

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: -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - - -
SP15:
SP16:
SP17:
SP18: - - -
SP19:

Relevant External Links for PCSK7 Gene

GeneLoc Exon Structure for
PCSK7
ECgene alternative splicing isoforms for
PCSK7

Expression for PCSK7 Gene

mRNA expression in normal human tissues for PCSK7 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCSK7 Gene



SOURCE GeneReport for Unigene cluster for PCSK7 Gene Hs.648612

mRNA Expression by UniProt/SwissProt for PCSK7 Gene

Q16549-PCSK7_HUMAN
Tissue specificity: Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocyte
genes like me logo Genes that share expression patterns with PCSK7: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for PCSK7 Gene

Orthologs for PCSK7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PCSK7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCSK7 35
  • 87.37 (n)
  • 89.67 (a)
PCSK7 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCSK7 35
  • 88.87 (n)
  • 91.34 (a)
PCSK7 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcsk7 35
  • 86.39 (n)
  • 87.78 (a)
Pcsk7 16
Pcsk7 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCSK7 35
  • 99.24 (n)
  • 99.11 (a)
PCSK7 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcsk7 35
  • 85.96 (n)
  • 87.96 (a)
oppossum
(Monodelphis domestica)
Mammalia PCSK7 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCSK7 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCSK7 35
  • 76.96 (n)
  • 83.68 (a)
PC7 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCSK7 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk7 35
  • 67.65 (n)
  • 72.9 (a)
zebrafish
(Danio rerio)
Actinopterygii pcsk7 35
  • 68.21 (n)
  • 70.56 (a)
pcsk7 36
  • 63 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea aex-5 37
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEX2 36
  • 28 (a)
OneToMany
KEX2 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for PCSK7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCSK7 Gene

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

Paralogs for PCSK7 Gene

Paralogs for PCSK7 Gene

(6) SIMAP similar genes for PCSK7 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PCSK7 Gene

genes like me logo Genes that share paralogs with PCSK7: view

Variants for PCSK7 Gene

Sequence variations from dbSNP and Humsavar for PCSK7 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs74830 -- 117,219,842(-) TCCCA(A/G)GTAGC intron-variant
rs171052 -- 117,211,047(+) GGATG(C/G)GCTTT intron-variant
rs192102 -- 117,216,500(+) aatgg(G/T)gcgat intron-variant
rs236910 -- 117,211,258(+) ggcgc(A/G)tgcca intron-variant
rs236911 -- 117,214,554(+) GCAAC(A/C)AAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCSK7 Gene

Variant ID Type Subtype PubMed ID
nsv7223 OTHER Inversion 18451855
nsv524270 CNV Loss 19592680

Variation tolerance for PCSK7 Gene

Residual Variation Intolerance Score: 31.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.76; 57.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCSK7 Gene

HapMap Linkage Disequilibrium report
PCSK7
Human Gene Mutation Database (HGMD)
PCSK7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK7 Gene

Disorders for PCSK7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PCSK7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
plantar fasciitis
  • fasciitis, plantar
carpal tunnel syndrome, familial
  • carpal tunnel syndrome
- elite association
Search PCSK7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PCSK7

Genetic Association Database (GAD)
PCSK7
Human Genome Epidemiology (HuGE) Navigator
PCSK7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCSK7
genes like me logo Genes that share disorders with PCSK7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCSK7 Gene

Publications for PCSK7 Gene

  1. PC8, a new member of the convertase family. (PMID: 8615762) Bruzzaniti A. … Gillespie M.T. (Biochem. J. 1996) 2 23 67
  2. Comparative study of the binding pockets of mammalian proprotein convertases and its implications for the design of specific small molecule inhibitors. (PMID: 20151049) Tian S. … Jianhua W. (Int. J. Biol. Sci. 2010) 23 67
  3. Post-endoplasmic reticulum rescue of unstable MHC class I requires proprotein convertase PC7. (PMID: 20164418) Leonhardt R.M. … Knittler M.R. (J. Immunol. 2010) 23 67
  4. Furin targeted drug delivery for treatment of rhabdomyosarcoma in a mouse model. (PMID: 20454619) Hajdin K. … Bernasconi M. (PLoS ONE 2010) 23 67
  5. Characterization of proADAMTS5 processing by proprotein convertases. (PMID: 18992360) LongprAc J.M. … Leduc R. (Int. J. Biochem. Cell Biol. 2009) 23 67

Products for PCSK7 Gene

Sources for PCSK7 Gene

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