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

Aliases for PCSK4 Gene

Aliases for PCSK4 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 4 2 3 5
  • PC4 3 4
  • Testicular Tissue Protein Li 135 3
  • Proprotein Convertase 4 4
  • EC 3.4.21.75 61
  • EC 3.4.21.93 61
  • EC 3.4.21.- 4
  • EC 3.4.21 61
  • SPC5 3

External Ids for PCSK4 Gene

Previous GeneCards Identifiers for PCSK4 Gene

  • GC19U990073
  • GC19M001550
  • GC19M001421
  • GC19M001432
  • GC19M001256

Summaries for PCSK4 Gene

Entrez Gene Summary for PCSK4 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 subcellular compartments where a second autocatalytic even 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. The protease is expressed only in the testis, placenta, and ovary. It plays a critical role in fertilization, fetoplacental growth, and embryonic development and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein and pro-insulin-like growth factor II. [provided by RefSeq, Jan 2014]

GeneCards Summary for PCSK4 Gene

PCSK4 (Proprotein Convertase Subtilisin/Kexin Type 4) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is FURIN.

UniProtKB/Swiss-Prot for PCSK4 Gene

  • Proprotein convertase involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues (By similarity). In males, important for ADAM2 processing as well as other acrosomal proteins with roles in fertilization and critical for normal fertilization events such as sperm capacitation, acrosome reaction and binding of sperm to zona pellucida (By similarity). Plays also a role in female fertility, involved in the regulation of trophoblast migration and placental development, may be through the proteolytical processing and activation of proteins such as IGF2 (PubMed:16040806). May also participate in folliculogenesis in the ovaries (By similarity).

Gene Wiki entry for PCSK4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCSK4 Gene

Genomics for PCSK4 Gene

Regulatory Elements for PCSK4 Gene

Enhancers for PCSK4 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
GH19F001489 1.1 Ensembl ENCODE 18.5 -1.4 -1419 5.7 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A YY1 ZNF207 ZNF143 FOS PCSK4 REEP6 ENSG00000267092
GH19F001496 0.2 Ensembl 15.9 -5.9 -5913 0.4 NRF1 MNT E2F1 POLR2A NCOR1 TARDBP KDM1A ZBTB33 SUPT5H ZNF18 PCSK4 ENSG00000267092
GH19F001498 0.4 Ensembl 14.2 -7.5 -7513 0.4 BCOR ZMYM3 CEBPB CEBPG ZNF335 POLR2A CEBPA BCL6 WT1 PCSK4 REEP6 ENSG00000267092
GH19F001442 1.1 FANTOM5 ENCODE 12.2 +46.6 46587 3.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 APC2 ENSG00000266990 RNA5SP462 C19orf24 C19orf25 PCSK4 REEP6 SCAMP4 MUM1 CBARP
GH19F001441 0.5 ENCODE 12.2 +48.7 48673 0.6 ARNT TAL1 INSM2 ZNF384 HIC1 GLIS2 POLR2A NCOR1 PATZ1 ZNF600 C19orf25 PCSK4 REEP6 APC2 ENSG00000268798
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PCSK4 on UCSC Golden Path with GeneCards custom track

Promoters for PCSK4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001417289 -12 2201 HDGF PKNOX1 WRNIP1 ARID4B SIN3A YY1 ZNF207 ZNF143 FOS KLF13

Genomic Location for PCSK4 Gene

Chromosome:
19
Start:
1,481,428 bp from pter
End:
1,490,888 bp from pter
Size:
9,461 bases
Orientation:
Minus strand

Genomic View for PCSK4 Gene

Genes around PCSK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCSK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCSK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK4 Gene

Proteins for PCSK4 Gene

  • Protein details for PCSK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UW60-PCSK4_HUMAN
    Recommended name:
    Proprotein convertase subtilisin/kexin type 4
    Protein Accession:
    Q6UW60
    Secondary Accessions:
    • Q8IY88
    • Q9UF79

    Protein attributes for PCSK4 Gene

    Size:
    755 amino acids
    Molecular mass:
    82795 Da
    Quaternary structure:
    • The proPCSK4 form interacts with HSPA5; the interaction takes place at the endoplasmic reticulum.

    Alternative splice isoforms for PCSK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCSK4 Gene

Post-translational modifications for PCSK4 Gene

  • N-glycosylated.
  • Synthesized in the endoplasmic reticulum as a zymogen, is matured by autocatalytic cleavage between the prodomain and the catalytic domain.
  • Glycosylation at Asn 475 and Asn 629
  • Modification sites at PhosphoSitePlus

Domains & Families for PCSK4 Gene

Gene Families for PCSK4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6UW60

UniProtKB/Swiss-Prot:

PCSK4_HUMAN :
  • Contains 1 peptidase S8 domain.
  • Belongs to the peptidase S8 family. Furin subfamily.
Domain:
  • Contains 1 peptidase S8 domain.
Family:
  • Belongs to the peptidase S8 family. Furin subfamily.
genes like me logo Genes that share domains with PCSK4: view

Function for PCSK4 Gene

Molecular function for PCSK4 Gene

GENATLAS Biochemistry:
proprotein convertase subtilisin,kexin like 4,only expressed in testicular germ cells
UniProtKB/Swiss-Prot Function:
Proprotein convertase involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues (By similarity). In males, important for ADAM2 processing as well as other acrosomal proteins with roles in fertilization and critical for normal fertilization events such as sperm capacitation, acrosome reaction and binding of sperm to zona pellucida (By similarity). Plays also a role in female fertility, involved in the regulation of trophoblast migration and placental development, may be through the proteolytical processing and activation of proteins such as IGF2 (PubMed:16040806). May also participate in folliculogenesis in the ovaries (By similarity).

Enzyme Numbers (IUBMB) for PCSK4 Gene

Gene Ontology (GO) - Molecular Function for PCSK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,IBA --
GO:0005515 protein binding IPI 11164898
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PCSK4: view
genes like me logo Genes that share phenotypes with PCSK4: view

Animal Models for PCSK4 Gene

MGI Knock Outs for PCSK4:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCSK4 Gene

Localization for PCSK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK4 Gene

Membrane; Single-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, acrosome membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCSK4 Gene COMPARTMENTS Subcellular localization image for PCSK4 gene
Compartment Confidence
extracellular 4
golgi apparatus 3
plasma membrane 2
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PCSK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle ISS --
GO:0002080 acrosomal membrane ISS --
GO:0005615 extracellular space IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCSK4: view

Pathways & Interactions for PCSK4 Gene

SuperPathways for PCSK4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCSK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007339 binding of sperm to zona pellucida ISS --
GO:0007340 acrosome reaction ISS --
GO:0009566 fertilization ISS --
GO:0016485 protein processing IDA 16040806
genes like me logo Genes that share ontologies with PCSK4: view

No data available for Pathways by source and SIGNOR curated interactions for PCSK4 Gene

Drugs & Compounds for PCSK4 Gene

(1) Drugs for PCSK4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PCSK4: view

Transcripts for PCSK4 Gene

Unigene Clusters for PCSK4 Gene

Proprotein convertase subtilisin/kexin type 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c
SP1: -
SP2:
SP3:
SP4: - -
SP5:
SP6:

Relevant External Links for PCSK4 Gene

GeneLoc Exon Structure for
PCSK4
ECgene alternative splicing isoforms for
PCSK4

Expression for PCSK4 Gene

mRNA expression in normal human tissues for PCSK4 Gene

mRNA differential expression in normal tissues according to GTEx for PCSK4 Gene

This gene is overexpressed in Testis (x25.3).

NURSA nuclear receptor signaling pathways regulating expression of PCSK4 Gene:

PCSK4

SOURCE GeneReport for Unigene cluster for PCSK4 Gene:

Hs.46884

mRNA Expression by UniProt/SwissProt for PCSK4 Gene:

Q6UW60-PCSK4_HUMAN
Tissue specificity: Placenta.
genes like me logo Genes that share expression patterns with PCSK4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for PCSK4 Gene

Orthologs for PCSK4 Gene

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

Orthologs for PCSK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCSK4 34 35
  • 98.5 (n)
cow
(Bos Taurus)
Mammalia PCSK4 34 35
  • 87.4 (n)
dog
(Canis familiaris)
Mammalia PCSK4 34 35
  • 85.24 (n)
rat
(Rattus norvegicus)
Mammalia Pcsk4 34
  • 82.96 (n)
mouse
(Mus musculus)
Mammalia Pcsk4 34 16 35
  • 82.72 (n)
oppossum
(Monodelphis domestica)
Mammalia PCSK4 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCSK4 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCSK4 34 35
  • 68.09 (n)
lizard
(Anolis carolinensis)
Reptilia PCSK4 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk4 34
  • 59.8 (n)
zebrafish
(Danio rerio)
Actinopterygii pcsk5a 35
  • 17 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Fur2 35
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea bli-4 35
  • 31 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEX2 34
  • 46.34 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL203W 34
  • 45.9 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19811g 34
  • 43.71 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03219 34
  • 49.42 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes krp1 34
  • 45.88 (n)
Species where no ortholog for PCSK4 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PCSK4 Gene

ENSEMBL:
Gene Tree for PCSK4 (if available)
TreeFam:
Gene Tree for PCSK4 (if available)

Paralogs for PCSK4 Gene

Paralogs for PCSK4 Gene

(6) SIMAP similar genes for PCSK4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PCSK4: view

Variants for PCSK4 Gene

Sequence variations from dbSNP and Humsavar for PCSK4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10426604 -- 1,489,186(+) gagtg(A/C)aatgg intron-variant, upstream-variant-2KB
rs1047852 -- 1,481,560(-) TGGGC(A/G)GGAGT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1047854 -- 1,481,482(-) GTCCG(C/T)CTCGG nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs111498963 -- 1,484,994(+) AATAC(A/C)AGAAT intron-variant
rs111625217 -- 1,487,887(+) GAGGG(A/G)GCCGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCSK4 Gene

Variant ID Type Subtype PubMed ID
esv2758743 CNV gain+loss 17122850
esv32942 CNV gain+loss 17666407
esv3643399 CNV loss 21293372
nsv470105 CNV gain 18288195
nsv470106 CNV loss 18288195
nsv578279 CNV gain 21841781
nsv578295 CNV gain 21841781
nsv833705 CNV loss 17160897
nsv953942 CNV deletion 24416366

Variation tolerance for PCSK4 Gene

Residual Variation Intolerance Score: 86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.38; 70.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCSK4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCSK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK4 Gene

Disorders for PCSK4 Gene

Relevant External Links for PCSK4

Genetic Association Database (GAD)
PCSK4
Human Genome Epidemiology (HuGE) Navigator
PCSK4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCSK4

No disorders were found for PCSK4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCSK4 Gene

Publications for PCSK4 Gene

  1. Role of pro-IGF-II processing by proprotein convertase 4 in human placental development. (PMID: 16040806) Qiu Q. … Gruslin A. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 22 64
  2. Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human. (PMID: 7782070) Mbikay M. … Simpson E.M. (Genomics 1995) 2 3 22 64
  3. The precursor to the germ cell-specific PCSK4 proteinase is inefficiently activated in transfected somatic cells: evidence of interaction with the BiP chaperone. (PMID: 21080038) Gyamera-Acheampong C. … Mbikay M. (Mol. Cell. Biochem. 2011) 3 4 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Proprotein convertase subtilisin/kexin type 4 in mammalian fertility: a review. (PMID: 19109312) Gyamera-Acheampong C. … Mbikay M. (Hum. Reprod. Update 2009) 3 22 64

Products for PCSK4 Gene

Sources for PCSK4 Gene

Content
Loading form....