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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 63
  • EC 3.4.21.93 63
  • EC 3.4.21.- 4
  • EC 3.4.21 63
  • 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 PCSK1.

UniProtKB/Swiss-Prot for PCSK4 Gene

  • Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Plays a role in transcriptional coactivation. May be involved in stabilizing the multiprotein transcription complex.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around PCSK4 on UCSC Golden Path with GeneCards custom track

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:
    No Data Available

    Alternative splice isoforms for PCSK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCSK4 Gene

Proteomics data for PCSK4 Gene at MOPED

Post-translational modifications for PCSK4 Gene

  • Glycosylation at Asn 475 and Asn 629
  • Modification sites at PhosphoSitePlus

Other Protein References for PCSK4 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Plays a role in transcriptional coactivation. May be involved in stabilizing the multiprotein transcription complex.

Enzyme Numbers (IUBMB) for PCSK4 Gene

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

Animal Models for PCSK4 Gene

MGI Knock Outs for PCSK4:

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , 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.

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

No data available for Gene Ontology (GO) - Cellular Components for PCSK4 Gene

Pathways & Interactions for PCSK4 Gene

SuperPathways for PCSK4 Gene

No Data Available

Interacting Proteins for PCSK4 Gene

Gene Ontology (GO) - Biological Process for PCSK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007339 binding of sperm to zona pellucida IEA --
GO:0016485 protein processing IBA --
GO:0048240 sperm capacitation IEA --
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:

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).

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
cow
(Bos Taurus)
Mammalia PCSK4 35
  • 87.4 (n)
  • 88.52 (a)
PCSK4 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCSK4 35
  • 85.24 (n)
  • 83.15 (a)
PCSK4 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcsk4 35
  • 82.72 (n)
  • 84.11 (a)
Pcsk4 16
Pcsk4 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCSK4 35
  • 98.5 (n)
  • 98.13 (a)
PCSK4 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcsk4 35
  • 82.96 (n)
  • 84.12 (a)
oppossum
(Monodelphis domestica)
Mammalia PCSK4 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCSK4 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCSK4 35
  • 68.09 (n)
  • 64.97 (a)
PCSK4 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCSK4 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk4 35
  • 59.8 (n)
  • 63.36 (a)
zebrafish
(Danio rerio)
Actinopterygii pcsk5a 36
  • 17 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Fur2 36
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea bli-4 36
  • 31 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL203W 35
  • 45.9 (n)
  • 39.75 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19811g 35
  • 43.71 (n)
  • 41.2 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEX2 35
  • 46.34 (n)
  • 41.02 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03219 35
  • 49.42 (n)
  • 41.03 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes krp1 35
  • 45.88 (n)
  • 42.89 (a)
Species with no ortholog for PCSK4:
  • 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
rs36123574 - 1,487,196(+) CCACC(A/G)TGCGG nc-transcript-variant, reference, synonymous-codon, missense
rs791463 -- 1,488,756(+) TTGTA(C/T)ATTTA intron-variant
rs791464 -- 1,489,081(+) CTGAG(C/T)GCCTG intron-variant
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, downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv910292 CNV Loss 21882294
dgv1055e1 CNV Complex 17122850
dgv3580n71 CNV Loss 21882294
dgv3583n71 CNV Loss 21882294
dgv3589n71 CNV Loss 21882294
dgv3596n71 CNV Loss 21882294
esv32942 CNV Gain+Loss 17666407
dgv3598n71 CNV Loss 21882294
nsv910491 CNV Gain+Loss 21882294
dgv3599n71 CNV Loss 21882294
essv18235 CNV CNV 17122850
nsv833705 CNV Loss 17160897
nsv910499 CNV Loss 21882294
dgv3600n71 CNV Loss 21882294
dgv3601n71 CNV Loss 21882294
dgv3602n71 CNV Loss 21882294
nsv910507 CNV Loss 21882294
dgv3603n71 CNV Loss 21882294
nsv470105 CNV Gain 18288195
dgv3604n71 CNV Gain+Loss 21882294
dgv3605n71 CNV Loss 21882294
nsv910517 CNV Loss 21882294
nsv470106 CNV Loss 18288195
nsv910520 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
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. 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 23 67
  2. Proprotein convertase subtilisin/kexin type 4 in mammalian fertility: a review. (PMID: 19109312) Gyamera-Acheampong C. … Mbikay M. (Hum. Reprod. Update 2009) 3 23
  3. 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 23
  4. The multifaceted proprotein convertases: their unique, redundant, complementary, and opposite functions. (PMID: 23775089) Seidah N.G. … Mbikay M. (J. Biol. Chem. 2013) 3
  5. The biology and therapeutic targeting of the proprotein convertases. (PMID: 22679642) Seidah N.G. … Prat A. (Nat Rev Drug Discov 2012) 3

Products for PCSK4 Gene

Sources for PCSK4 Gene

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