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Aliases for PCSK5 Gene

Aliases for PCSK5 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 5 2 3 5
  • Subtilisin/Kexin-Like Protease PC5 3 4
  • Proprotein Convertase 6 3 4
  • PC5 3 4
  • PC6 3 4
  • Prohormone Convertase 5 3
  • Proprotein Convertase 5 4
  • Protease PC6 3
  • EC 56
  • EC 56
  • EC 3.4.21.- 4
  • Subtilase 3
  • EC 3.4.21 56
  • PC6A 3
  • SPC6 3
  • HPC6 4

External Ids for PCSK5 Gene

Previous GeneCards Identifiers for PCSK5 Gene

  • GC09P069549
  • GC09P070362
  • GC09P072075
  • GC09P073962
  • GC09P075735
  • GC09P077695
  • GC09P078505
  • GC09P048336

Summaries for PCSK5 Gene

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. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]

GeneCards Summary for PCSK5 Gene

PCSK5 (Proprotein Convertase Subtilisin/Kexin Type 5) is a Protein Coding gene. Diseases associated with PCSK5 include Currarino Syndrome and Plasma Cell Neoplasm. Among its related pathways are Metabolism and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is PCSK6.

UniProtKB/Swiss-Prot for PCSK5 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 and regulated secretory pathways. 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

Additional gene information for PCSK5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCSK5 Gene

Genomics for PCSK5 Gene

GeneHancer (GH) Regulatory Elements for PCSK5 Gene

Promoters and enhancers for PCSK5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I075889 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 561.9 +2.6 2597 7.5 PKNOX1 SIN3A ZNF2 YY1 GLIS2 ZNF143 KLF7 RUNX3 SP3 RXRA PCSK5 GC09P076099
GH09I075909 Enhancer 0.7 ENCODE dbSUPER 22.1 +22.7 22703 7.1 ZNF362 ZNF680 ZNF189 BACH1 NFE2 PCSK5 GC09P076099
GH09I075950 Enhancer 0.7 ENCODE 19.5 +62.9 62850 6.3 FOXA2 MAX FEZF1 RAD21 YY1 HNF4G FOSL2 L3MBTL2 RXRA REST PCSK5 GC09P076099
GH09I076372 Enhancer 1.2 Ensembl ENCODE 9.8 +483.8 483755 3.5 ATF1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 BRCA1 ZNF48 ETS1 PCSK5 GCNT1 RFK RBM22P5
GH09I075992 Enhancer 0.5 ENCODE 19.9 +103.0 103021 1.4 SP1 FOXA2 JUN FOSL2 FOS KLF13 PCSK5 GC09P076099
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCSK5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCSK5 gene promoter:

Genomic Locations for PCSK5 Gene

Genomic Locations for PCSK5 Gene
471,739 bases
Plus strand

Genomic View for PCSK5 Gene

Genes around PCSK5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCSK5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCSK5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK5 Gene

Proteins for PCSK5 Gene

  • Protein details for PCSK5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Proprotein convertase subtilisin/kexin type 5
    Protein Accession:
    Secondary Accessions:
    • F5H2G7
    • Q13527
    • Q96EP4

    Protein attributes for PCSK5 Gene

    1860 amino acids
    Molecular mass:
    206942 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCSK5 Gene


neXtProt entry for PCSK5 Gene

Selected DME Specific Peptides for PCSK5 Gene


Post-translational modifications for PCSK5 Gene

  • Ubiquitination at isoforms=256
  • Glycosylation at Asn225, Asn381, isoforms=2665, Asn752, isoforms=2802, Asn852, isoforms=1014, isoforms=1191, isoforms=1290, Asn1497, Asn1685, and isoforms=1707
  • Modification sites at PhosphoSitePlus

Domains & Families for PCSK5 Gene

Gene Families for PCSK5 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry



  • The propeptide domain acts as an intramolecular chaperone assisting the folding of the zymogen within the endoplasmic reticulum.
  • Belongs to the peptidase S8 family.
  • The propeptide domain acts as an intramolecular chaperone assisting the folding of the zymogen within the endoplasmic reticulum.
  • 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).
  • Belongs to the peptidase S8 family.
genes like me logo Genes that share domains with PCSK5: view

Function for PCSK5 Gene

Molecular function for PCSK5 Gene

GENATLAS Biochemistry:
proprotein convertase subtilisin,kexin-like 5,exhibiting the presence of multiple alternative forms,expressed in regulated and constitutively secreting cells
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 and regulated secretory pathways. Plays an essential role in pregnancy establishment by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha-integrins.

Enzyme Numbers (IUBMB) for PCSK5 Gene

Phenotypes From GWAS Catalog for PCSK5 Gene

Gene Ontology (GO) - Molecular Function for PCSK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity EXP,IEA 16109723
GO:0004252 serine-type endopeptidase activity IDA 8901832
GO:0005515 protein binding IPI 25416956
GO:0008233 peptidase activity IDA 15606899
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with PCSK5: view
genes like me logo Genes that share phenotypes with PCSK5: view

Animal Models for PCSK5 Gene

MGI Knock Outs for PCSK5:

miRNA for PCSK5 Gene

miRTarBase miRNAs that target PCSK5

Clone Products

  • Addgene plasmids for PCSK5

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCSK5 Gene

Localization for PCSK5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK5 Gene

Isoform PC6A: Secreted. Note=Secreted through the regulated secretory pathway. {ECO:0000250}.
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. {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 PCSK5 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCSK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space ISS,IEA 8940009
GO:0005794 Golgi apparatus IEA,ISS --
GO:0005796 Golgi lumen TAS --
GO:0012505 endomembrane system IEA --
genes like me logo Genes that share ontologies with PCSK5: view

Pathways & Interactions for PCSK5 Gene

genes like me logo Genes that share pathways with PCSK5: view

Gene Ontology (GO) - Biological Process for PCSK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development ISS 8940009
GO:0002001 renin secretion into blood stream IEP 8901832
GO:0003279 cardiac septum development IEA --
GO:0006465 signal peptide processing IDA 16912035
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with PCSK5: view

No data available for SIGNOR curated interactions for PCSK5 Gene

Drugs & Compounds for PCSK5 Gene

(1) Drugs for PCSK5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PCSK5: view

Transcripts for PCSK5 Gene

Unigene Clusters for PCSK5 Gene

Proprotein convertase subtilisin/kexin type 5:
Representative Sequences:

Clone Products

  • Addgene plasmids for PCSK5

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK5 Gene

No ASD Table

Relevant External Links for PCSK5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCSK5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCSK5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PCSK5 Gene

This gene is overexpressed in Lung (23.9), Peripheral blood mononuclear cells (19.7), Liver, secretome (14.1), and Pancreatic juice (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCSK5 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCSK5 Gene:


SOURCE GeneReport for Unigene cluster for PCSK5 Gene:


mRNA Expression by UniProt/SwissProt for PCSK5 Gene:

Tissue specificity: Expressed in T-lymphocytes.

Evidence on tissue expression from TISSUES for PCSK5 Gene

  • Blood(4.4)
  • Kidney(4.3)
  • Lymph node(4)
  • Nervous system(2.9)
  • Heart(2.6)
  • Intestine(2.3)
  • Muscle(2)
genes like me logo Genes that share expression patterns with PCSK5: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCSK5 Gene

Orthologs for PCSK5 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCSK5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCSK5 33 34
  • 99.07 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
-- 34
  • 91 (a)
-- 34
  • 70 (a)
-- 34
  • 61 (a)
(Rattus norvegicus)
Mammalia Pcsk5 33
  • 87.5 (n)
(Canis familiaris)
Mammalia PCSK5 33 34
  • 86.85 (n)
(Mus musculus)
Mammalia Pcsk5 33 16 34
  • 82.82 (n)
(Bos Taurus)
Mammalia PCSK5 33 34
  • 82.62 (n)
(Monodelphis domestica)
Mammalia PCSK5 34
  • 76 (a)
(Gallus gallus)
Aves PCSK5 33 34
  • 78.78 (n)
(Anolis carolinensis)
Reptilia PCSK5 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk5 33
  • 72.86 (n)
(Danio rerio)
Actinopterygii pcsk5b 34
  • 67 (a)
FP236851.1 34
  • 66 (a)
pcsk5a 33
  • 57.91 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.902 33
fruit fly
(Drosophila melanogaster)
Insecta Fur1 35
  • 51 (a)
Fur2 35 33
  • 50.57 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002915 33
  • 50.75 (n)
(Caenorhabditis elegans)
Secernentea kpc-1 35
  • 54 (a)
bli-4 35
  • 45 (a)
aex-5 35 34
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
Species where no ortholog for PCSK5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • 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 PCSK5 Gene

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

Paralogs for PCSK5 Gene

Paralogs for PCSK5 Gene

(6) SIMAP similar genes for PCSK5 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PCSK5: view

Variants for PCSK5 Gene

Sequence variations from dbSNP and Humsavar for PCSK5 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs61744763 likely-benign, not specified 76,328,030(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs34417623 uncertain-significance, not specified 76,023,881(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1000000011 -- 76,228,713(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000006599 -- 76,045,598(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000007824 -- 76,183,610(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PCSK5 Gene

Variant ID Type Subtype PubMed ID
dgv1258e201 CNV deletion 23290073
dgv1259e201 CNV deletion 23290073
dgv1260e201 CNV deletion 23290073
dgv12763n54 CNV loss 21841781
dgv12764n54 CNV loss 21841781
dgv4070n106 CNV deletion 24896259
esv1007112 CNV gain 20482838
esv1007851 CNV deletion 20482838
esv1010025 CNV deletion 20482838
esv1368287 CNV deletion 17803354
esv1579961 CNV deletion 17803354
esv1627785 CNV deletion 17803354
esv2199133 CNV deletion 18987734
esv24499 CNV gain 19812545
esv2576493 CNV deletion 19546169
esv2660720 CNV deletion 23128226
esv2665184 CNV deletion 23128226
esv2670080 CNV deletion 23128226
esv2676945 CNV deletion 23128226
esv2738574 CNV deletion 23290073
esv2738575 CNV deletion 23290073
esv2738576 CNV deletion 23290073
esv2738577 CNV deletion 23290073
esv2738578 CNV deletion 23290073
esv2738595 CNV deletion 23290073
esv2738597 CNV deletion 23290073
esv28691 CNV gain 19812545
esv3267717 CNV deletion 24192839
esv3306402 CNV mobile element insertion 20981092
esv33354 CNV loss 17666407
esv3451207 CNV insertion 20981092
esv3544950 CNV deletion 23714750
esv3544952 CNV deletion 23714750
esv3620732 CNV loss 21293372
esv3620735 CNV loss 21293372
esv3620736 CNV loss 21293372
esv3620738 CNV gain 21293372
esv3620739 CNV loss 21293372
esv4993 CNV loss 18987735
esv9306 CNV gain 19470904
esv988212 CNV deletion 20482838
esv995792 CNV deletion 20482838
nsv1075655 CNV deletion 25765185
nsv1075656 CNV deletion 25765185
nsv1126911 CNV deletion 24896259
nsv1152370 CNV duplication 26484159
nsv435888 CNV deletion 17901297
nsv437647 CNV loss 16327808
nsv466422 CNV loss 19166990
nsv508552 CNV deletion 20534489
nsv512104 CNV loss 21212237
nsv521139 CNV gain 19592680
nsv523103 CNV loss 19592680
nsv526457 CNV loss 19592680
nsv614691 CNV loss 21841781
nsv614692 CNV loss 21841781
nsv6569 CNV insertion 18451855
nsv820404 CNV deletion 20802225
nsv831627 CNV loss 17160897
nsv957713 CNV deletion 24416366

Variation tolerance for PCSK5 Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 24.65; 99.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCSK5 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK5 Gene

Disorders for PCSK5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PCSK5 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
currarino syndrome
  • currarino triad
plasma cell neoplasm
  • multiple myeloma
avian influenza
  • avian flu
vacterl association
  • vater syndrome
mature b-cell neoplasm
  • mature b-cell lymphocytic neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search PCSK5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PCSK5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PCSK5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCSK5 Gene

Publications for PCSK5 Gene

  1. Proteomic identification of caldesmon as a physiological substrate of proprotein convertase 6 in human uterine decidual cells essential for pregnancy establishment. (PMID: 19764806) Kilpatrick LM … Nie G (Journal of proteome research 2009) 3 4 22 58
  2. Genetic variation at the proprotein convertase subtilisin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels. (PMID: 20031622) Iatan I … Genest J (Circulation. Cardiovascular genetics 2009) 3 22 44 58
  3. Isolation of the human PC6 gene encoding the putative host protease for HIV-1 gp160 processing in CD4+ T lymphocytes. (PMID: 8755538) Miranda L … Franzusoff A (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 22 58
  4. Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human. (PMID: 7782070) Mbikay M … Simpson EM (Genomics 1995) 2 3 22 58
  5. Cleavage of endometrial α-integrins into their functional forms is mediated by proprotein convertase 5/6. (PMID: 22740495) Paule S … Nie G (Human reproduction (Oxford, England) 2012) 3 4 58

Products for PCSK5 Gene

  • Addgene plasmids for PCSK5

Sources for PCSK5 Gene

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