Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PCSK6 Gene

Aliases for PCSK6 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 6 2 3
  • Subtilisin-Like Proprotein Convertase 4 2 3 4
  • Subtilisin/Kexin-Like Protease PACE4 2 3 4
  • Paired Basic Amino Acid Cleaving System 4 2 3
  • Paired Basic Amino Acid Cleaving Enzyme 4 3 4
  • PACE4 3 4
  • SPC4 3 4
  • Subtilisin-Like Protease 2
  • EC 3.4.21.75 63
  • EC 3.4.21.61 63
  • EC 3.4.21.- 4
  • EC 3.4.21 63

External Ids for PCSK6 Gene

Previous HGNC Symbols for PCSK6 Gene

  • PACE4

Previous GeneCards Identifiers for PCSK6 Gene

  • GC15M099580
  • GC15M099661
  • GC15M101844
  • GC15M077966

Summaries for PCSK6 Gene

Entrez Gene Summary for PCSK6 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 and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]

GeneCards Summary for PCSK6 Gene

PCSK6 (Proprotein Convertase Subtilisin/Kexin Type 6) is a Protein Coding gene. Diseases associated with PCSK6 include avian influenza and anthrax disease. Among its related pathways are Signaling by GPCR and Developmental Biology. 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 PCSK6 Gene

  • Likely to represent an endoprotease activity within the constitutive secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues and capable of cleavage at the RX(K/R)R consensus motif

Gene Wiki entry for PCSK6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCSK6 Gene

Genomics for PCSK6 Gene

Regulatory Elements for PCSK6 Gene

Epigenetics Products

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

Genomic Location for PCSK6 Gene

Chromosome:
15
Start:
101,297,142 bp from pter
End:
101,525,202 bp from pter
Size:
228,061 bases
Orientation:
Minus strand

Genomic View for PCSK6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCSK6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK6 Gene

Proteins for PCSK6 Gene

  • Protein details for PCSK6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29122-PCSK6_HUMAN
    Recommended name:
    Proprotein convertase subtilisin/kexin type 6
    Protein Accession:
    P29122
    Secondary Accessions:
    • Q15099
    • Q15100
    • Q9UEG7
    • Q9UEJ1
    • Q9UEJ2
    • Q9UEJ7
    • Q9UEJ8
    • Q9UEJ9
    • Q9Y4G9
    • Q9Y4H0
    • Q9Y4H1

    Protein attributes for PCSK6 Gene

    Size:
    969 amino acids
    Molecular mass:
    106420 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • The PACE4A-I precursor protein seems to exist in the reticulum endoplasmic as both a monomer and a dimer-sized complex whereas mature PACE4A-I exists only as a monomer, suggesting that propeptide cleavage affects its tertiary or quaternary structure

    Alternative splice isoforms for PCSK6 Gene

neXtProt entry for PCSK6 Gene

Proteomics data for PCSK6 Gene at MOPED

Post-translational modifications for PCSK6 Gene

  • Ubiquitination at Lys 136
  • Glycosylation at Asn 259, Asn 914, and Asn 932
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for PCSK6 Gene

Gene Families for PCSK6 Gene

Suggested Antigen Peptide Sequences for PCSK6 Gene

Graphical View of Domain Structure for InterPro Entry

P29122

UniProtKB/Swiss-Prot:

PCSK6_HUMAN :
  • The propeptide domain acts as an intramolecular chaperone assisting the folding of the zymogen within the endoplasmic reticulum. Isoform PACE4D lacks the propeptide domain
  • Belongs to the peptidase S8 family.
  • Contains 5 FU (furin-like) repeats.
Domain:
  • The propeptide domain acts as an intramolecular chaperone assisting the folding of the zymogen within the endoplasmic reticulum. Isoform PACE4D lacks the propeptide domain
  • Contains 1 peptidase S8 domain.
  • Contains 1 PLAC domain.
Family:
  • Belongs to the peptidase S8 family.
Similarity:
  • Contains 5 FU (furin-like) repeats.
genes like me logo Genes that share domains with PCSK6: view

Function for PCSK6 Gene

Molecular function for PCSK6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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
UniProtKB/Swiss-Prot Function:
Likely to represent an endoprotease activity within the constitutive secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues and capable of cleavage at the RX(K/R)R consensus motif

Enzyme Numbers (IUBMB) for PCSK6 Gene

Gene Ontology (GO) - Molecular Function for PCSK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 9242664
GO:0004252 serine-type endopeptidase activity IDA 8218226
GO:0005515 protein binding --
GO:0008201 heparin binding IDA 12535616
GO:0008233 peptidase activity --
genes like me logo Genes that share ontologies with PCSK6: view
genes like me logo Genes that share phenotypes with PCSK6: view

Animal Models for PCSK6 Gene

MGI Knock Outs for PCSK6:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCSK6

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PCSK6 Gene

Localization for PCSK6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK6 Gene

Isoform PACE4A-I: Secreted.
Isoform PACE4A-II: Secreted.
Isoform PACE4C: Endoplasmic reticulum. Note=Not secreted, remains probably in zymogen form in endoplasmic reticulum.
Isoform PACE4CS: Endoplasmic reticulum. Note=Not secreted, remains probably in zymogen form in endoplasmic reticulum.
Isoform PACE4E-I: Endomembrane system; Peripheral membrane protein. Note=Retained intracellularly probably through a hydrophobic cluster in their C-terminus.
Isoform PACE4E-II: Endomembrane system; Peripheral membrane protein. Note=Retained intracellularly probably through a hydrophobic cluster in their C-terminus.
Isoform PACE4B: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCSK6 Gene COMPARTMENTS Subcellular localization image for PCSK6 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 4
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PCSK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 8906861
GO:0005783 endoplasmic reticulum IEA --
GO:0005796 Golgi lumen TAS --
GO:0009986 cell surface IDA 12535616
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PCSK6: view

Pathways & Interactions for PCSK6 Gene

genes like me logo Genes that share pathways with PCSK6: view

Pathways by source for PCSK6 Gene

Interacting Proteins for PCSK6 Gene

Selected Interacting proteins: P29122-PCSK6_HUMAN for PCSK6 Gene via I2D

Gene Ontology (GO) - Biological Process for PCSK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0007354 zygotic determination of anterior/posterior axis, embryo IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0009100 glycoprotein metabolic process IDA 8218226
GO:0016485 protein processing IDA 8218226
genes like me logo Genes that share ontologies with PCSK6: view

No data available for SIGNOR curated interactions for PCSK6 Gene

Drugs & Compounds for PCSK6 Gene

(3) Drugs for PCSK6 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0
arginine Nutra 346
serine Nutra 420

(1) Additional Compounds for PCSK6 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Exotoxin-A
genes like me logo Genes that share compounds with PCSK6: view

Transcripts for PCSK6 Gene

Unigene Clusters for PCSK6 Gene

Proprotein convertase subtilisin/kexin type 6:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCSK6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - - -
SP6: - -
SP7: -
SP8: -
SP9:
SP10: -
SP11:

ExUns: 24 ^ 25a · 25b ^ 26a · 26b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:

Relevant External Links for PCSK6 Gene

GeneLoc Exon Structure for
PCSK6
ECgene alternative splicing isoforms for
PCSK6

Expression for PCSK6 Gene

mRNA expression in normal human tissues for PCSK6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCSK6 Gene

This gene is overexpressed in Liver (x12.5), Brain - Spinal cord (cervical c-1) (x8.5), Spleen (x4.8), and Brain - Substantia nigra (x4.1).

Protein differential expression in normal tissues from HIPED for PCSK6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (45.6) and Platelet (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCSK6 Gene



SOURCE GeneReport for Unigene cluster for PCSK6 Gene Hs.498494

mRNA Expression by UniProt/SwissProt for PCSK6 Gene

P29122-PCSK6_HUMAN
Tissue specificity: Each PACE4 isoform exhibits a unique restricted distribution. Isoform PACE4A-I is expressed in heart, brain, placenta, lung, skeletal muscle, kidney, pancreas, but at comparatively higher levels in the liver. Isoform PACE4A-II is at least expressed in placenta. Isoform PACE4B was only found in the embryonic kidney cell line from which it was isolated. Isoform PACE4C and isoform PACE4D are expressed in placenta. Isoform PACE4E-I is expressed in cerebellum, placenta and pituitary. Isoform PACE4E-II is at least present in cerebellum
genes like me logo Genes that share expression patterns with PCSK6: view

Protein tissue co-expression partners for PCSK6 Gene

Primer Products

In Situ Assay Products

Orthologs for PCSK6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCSK6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCSK6 35
  • 85.59 (n)
  • 89.98 (a)
PCSK6 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCSK6 35
  • 89.36 (n)
  • 93.11 (a)
PCSK6 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcsk6 35
  • 86.95 (n)
  • 92.65 (a)
Pcsk6 16
Pcsk6 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCSK6 35
  • 98.18 (n)
  • 98.18 (a)
PCSK6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcsk6 35
  • 86.87 (n)
  • 92.89 (a)
oppossum
(Monodelphis domestica)
Mammalia PCSK6 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCSK6 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCSK6 35
  • 73.22 (n)
  • 75.73 (a)
PCSK6 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 42 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk6 35
  • 69.83 (n)
  • 71.87 (a)
zebrafish
(Danio rerio)
Actinopterygii PCSK6 36
  • 66 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea kpc-1 36
  • 43 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for PCSK6:
  • 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)
  • 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)
  • 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 PCSK6 Gene

ENSEMBL:
Gene Tree for PCSK6 (if available)
TreeFam:
Gene Tree for PCSK6 (if available)

Paralogs for PCSK6 Gene

Paralogs for PCSK6 Gene

genes like me logo Genes that share paralogs with PCSK6: view

Variants for PCSK6 Gene

Sequence variations from dbSNP and Humsavar for PCSK6 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs2949 -- 101,347,562(+) GCACA(C/T)GCATT intron-variant, utr-variant-3-prime
rs10778 -- 101,304,663(-) AAACT(G/T)CAGCA utr-variant-3-prime
rs20543 -- 101,370,345(-) AACTT(C/T)TGGCA reference, synonymous-codon
rs724541 -- 101,372,548(+) AGATG(C/G)CGAAC intron-variant
rs724542 -- 101,372,544(+) CGGTA(A/G)ATGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCSK6 Gene

Variant ID Type Subtype PubMed ID
esv34275 CNV Gain 17911159
nsv833110 CNV Gain+Loss 17160897
dgv786e1 CNV Complex 17122850
dgv787e1 CNV Complex 17122850
nsv428314 CNV Loss 18775914
nsv904598 CNV Loss 21882294
nsv904599 CNV Gain 21882294
dgv2450n71 CNV Loss 21882294
nsv457290 CNV Loss 19166990
nsv904601 CNV Loss 21882294
nsv9310 CNV Gain 18304495
esv2750184 CNV Deletion 23290073
nsv469741 CNV Complex 16826518
esv2750186 CNV Deletion 23290073
nsv94947 CNV Loss 16902084
esv2422359 CNV Duplication 17116639
essv21162 CNV CNV 17122850
esv2750187 CNV Deletion 23290073
esv2244647 CNV Deletion 18987734
esv2750188 CNV Deletion 23290073
esv2750189 CNV Deletion 23290073
esv2343291 CNV Deletion 18987734
esv2750190 CNV Deletion 23290073
esv1007750 CNV Deletion 20482838
nsv904603 CNV Loss 21882294
nsv457291 CNV Gain 19166990
nsv471266 CNV Gain 18288195
esv24793 CNV Gain 19812545
esv992073 CNV Insertion 20482838
esv1370843 CNV Insertion 17803354
nsv523415 CNV Gain 19592680
esv2666943 CNV Deletion 23128226
esv2750191 CNV Deletion 23290073
esv2750192 CNV Deletion 23290073
nsv904604 CNV Gain 21882294
nsv9311 CNV Gain 18304495
esv1625622 CNV Insertion 17803354
esv22828 CNV Loss 19812545
esv2750193 CNV Deletion 23290073
nsv904605 CNV Loss 21882294
esv2750194 CNV Deletion 23290073
dgv2451n71 CNV Gain 21882294
esv27538 CNV Loss 19812545

Variation tolerance for PCSK6 Gene

Gene Damage Index Score: 7.66; 82.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCSK6 Gene

HapMap Linkage Disequilibrium report
PCSK6
Human Gene Mutation Database (HGMD)
PCSK6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK6 Gene

Disorders for PCSK6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PCSK6 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
avian influenza
  • bird flu
anthrax disease
  • gas gangrene
chikungunya
  • chikungunya fever
- elite association
Search PCSK6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PCSK6

Genetic Association Database (GAD)
PCSK6
Human Genome Epidemiology (HuGE) Navigator
PCSK6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCSK6
genes like me logo Genes that share disorders with PCSK6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCSK6 Gene

Publications for PCSK6 Gene

  1. Identification of a second human subtilisin-like protease gene in the fes/fps region of chromosome 15. (PMID: 1741956) Kiefer M.C. … Barr P.J. (DNA Cell Biol. 1991) 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. Subtilisin-like proprotein convertase expression, localization, and activity in the human retina and optic nerve head. (PMID: 19339735) Fuller J.A. … Wordinger R.J. (Invest. Ophthalmol. Vis. Sci. 2009) 23 67
  4. Human pituitary contains dual cathepsin L and prohormone convertase processing pathway components involved in converting POMC into the peptide hormones ACTH, alpha-MSH, and beta-endorphin. (PMID: 19343278) Hook V. … Hwang S.R. (Endocrine 2009) 23 67
  5. The N-terminal pro region mediates retention of unprocessed type-I PME in the Golgi apparatus. (PMID: 19144003) Wolf S. … Greiner S. (Plant J. 2009) 23 67

Products for PCSK6 Gene

Sources for PCSK6 Gene

Back to Top

Content