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Aliases for PCSK7 Gene

Aliases for PCSK7 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 7 2 3 5
  • 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 58
  • EC 58
  • EC 58
  • EC 3.4.21.- 4
  • EC 3.4.21 58
  • 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 Leber Congenital Amaurosis 4. GO annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is PCSK5.

UniProtKB/Swiss-Prot for PCSK7 Gene

  • Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway.

Gene Wiki entry for PCSK7 Gene

Additional gene information for PCSK7 Gene

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

Genomics for PCSK7 Gene

Regulatory Elements for PCSK7 Gene

Enhancers for PCSK7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H116890 0.9 Ensembl ENCODE dbSUPER 25.4 +342.1 342095 0.8 SRF POLR2A PCSK7 TAGLN ENSG00000224077 SIK3 APOA1 APOA1-AS APOC3 APOA4 APOA5 ZPR1
GH11H117197 1 ENCODE dbSUPER 19.7 +30.7 30710 9.3 BCOR CTCF KLF1 ZMYM3 ZIC2 ZBTB40 RAD21 ZFHX2 GLIS2 POLR2A LOC653303 PCSK7 APOA1 RNF214 SIDT2 TAGLN LOC100652768
GH11H116851 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10 +379.1 379061 4.9 HDGF FEZF1 ZNF143 ZNF207 FOS ATF7 KLF7 RUNX3 YY2 JUNB LOC653303 SIK3 APOA1 APOC3 APOA4 ENSG00000236267 APOA5 ZPR1 ENSG00000224077 BUD13
GH11H116983 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.6 +246.5 246463 5.1 PKNOX1 FOXA2 ZNF133 RAD21 RARA YY1 FOS ETV6 RUNX3 CREM LOC653303 SIK3 ENSG00000224077 APOA1 PCSK7 RNF214 GC11P117017
GH11H117143 1.5 FANTOM5 ENCODE 10.6 +87.3 87266 3.6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 LOC653303 SIK3 ENSG00000224077 PCSK7 RNF214 ZPR1 APOA5 APOA1 BUD13 ENSG00000226645
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCSK7 on UCSC Golden Path with GeneCards custom track

Promoters for PCSK7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000045493 125 2401 ATF1 FOXA2 ARNT ZFP64 ARID4B SIN3A YY1 GLIS2 ELK1 ZNF207

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

Genomic Locations for PCSK7 Gene

Genomic Locations for PCSK7 Gene
28,189 bases
Minus strand

Genomic View for PCSK7 Gene

Genes around PCSK7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCSK7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Proprotein convertase subtilisin/kexin type 7
    Protein Accession:
    Secondary Accessions:
    • B0YJ60
    • Q3C1X1
    • Q53GM4
    • Q96FK8
    • Q9UL57

    Protein attributes for PCSK7 Gene

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

neXtProt entry for PCSK7 Gene

Selected DME Specific Peptides for PCSK7 Gene


Post-translational modifications for PCSK7 Gene

Domains & Families for PCSK7 Gene

Gene Families for PCSK7 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S8 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 EnzymeRegulation:
Inhibited by zinc and copper.
UniProtKB/Swiss-Prot Function:
Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway.

Enzyme Numbers (IUBMB) for PCSK7 Gene

Phenotypes From GWAS Catalog 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 IEA --
GO:0008233 peptidase activity IDA,IEA 15606899
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PCSK7: view
genes like me logo Genes that share phenotypes with PCSK7: view

Animal Models for PCSK7 Gene

MGI Knock Outs for PCSK7:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCSK7 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
nucleus 3
extracellular 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (1)
  • Nucleoli (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCSK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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


Gene Ontology (GO) - Biological Process for PCSK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
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
Copper Approved Pharma 188
calcium Nutra 0
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:

CRISPR Products

Inhibitory RNA 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: -
SP7: -
SP8: - - -
SP10: - - - - -
SP11: - - - - - - - - - -
SP13: - - - - - -
SP15: - - - - -
SP16: -

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: - -
SP14: - - - -
SP18: - - -

Relevant External Links for PCSK7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCSK7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCSK7 Gene

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

NURSA nuclear receptor signaling pathways regulating expression of PCSK7 Gene:


SOURCE GeneReport for Unigene cluster for PCSK7 Gene:


mRNA Expression by UniProt/SwissProt for PCSK7 Gene:

Tissue specificity: Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocyte.

Evidence on tissue expression from TISSUES for PCSK7 Gene

  • Nervous system(4.6)
  • Kidney(4.4)
  • Eye(4.1)
  • Lung(2.9)
  • Intestine(2.5)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with PCSK7: view

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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia PCSK7 33 34
  • 99.24 (n)
(Canis familiaris)
Mammalia PCSK7 34 33
  • 88.87 (n)
(Bos Taurus)
Mammalia PCSK7 33 34
  • 87.37 (n)
(Ornithorhynchus anatinus)
Mammalia PCSK7 34
  • 87 (a)
(Mus musculus)
Mammalia Pcsk7 33 16 34
  • 86.39 (n)
(Rattus norvegicus)
Mammalia Pcsk7 33
  • 85.96 (n)
(Monodelphis domestica)
Mammalia PCSK7 34
  • 82 (a)
(Gallus gallus)
Aves PC7 34
  • 78 (a)
PCSK7 33
  • 76.96 (n)
(Anolis carolinensis)
Reptilia PCSK7 34
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk7 33
  • 67.65 (n)
(Danio rerio)
Actinopterygii pcsk7 34 33
  • 68.21 (n)
(Caenorhabditis elegans)
Secernentea aex-5 35
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEX2 34 36
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
Species where no ortholog for PCSK7 was found in the sources mined by GeneCards:
  • 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

Gene Tree for PCSK7 (if available)
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 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
rs1000098848 -- 117,220,060(+) TAGAG(C/G)TGAAT intron-variant
rs1000233876 -- 117,213,875(+) ATTGG(A/C)ATTTT intron-variant
rs1000348462 -- 117,230,936(+) ACCTC(A/C)CTAAG intron-variant, upstream-variant-2KB
rs1000400902 -- 117,231,271(+) TGGAA(A/G)GGAGA intron-variant, upstream-variant-2KB
rs1000444655 -- 117,229,257(+) GAACC(A/G)GGAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv983065 CNV duplication 23825009
nsv7223 OTHER inversion 18451855
nsv524270 CNV loss 19592680
nsv1139559 CNV duplication 24896259
nsv1078301 OTHER inversion 25765185
esv3579921 CNV loss 25503493
esv3419020 CNV duplication 20981092
dgv730n106 OTHER inversion 24896259
dgv708e59 CNV duplication 20981092
dgv416e212 CNV loss 25503493
dgv2186n54 CNV loss 21841781

Variation tolerance for PCSK7 Gene

Residual Variation Intolerance Score: 31.4% 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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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: HGMD and DISEASES

Disorder Aliases PubMed IDs
plantar fasciitis
  • fasciitis, plantar
leber congenital amaurosis 4
  • cone-rod dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search PCSK7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PCSK7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 [corrected], a new member of the convertase family. (PMID: 8615762) Bruzzaniti A … Gillespie MT (The Biochemical journal 1996) 2 3 4 22 60
  2. 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. (PMID: 10362256) Lecointe N … Young BD (Oncogene 1999) 3 4 22 60
  3. Biosynthesis, distinct post-translational modifications, and functional characterization of lymphoma proprotein convertase. (PMID: 9341152) van de Loo JW … Van de Ven WJ (The Journal of biological chemistry 1997) 3 4 22 60
  4. A new member of the proprotein convertase gene family (LPC) is located at a chromosome translocation breakpoint in lymphomas. (PMID: 8564950) Meerabux J … Young BD (Cancer research 1996) 3 4 22 60
  5. Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. (PMID: 21149283) Oexle K … Meitinger T (Human molecular genetics 2011) 3 45 60

Products for PCSK7 Gene

Sources for PCSK7 Gene

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