• Gene id: 54760

Gene Summary

• Gene Symbol: PCSK4   Gene   UCSC   Ensembl
• Aliases: PC4, SPC5
• Gene name: proprotein convertase subtilisin/kexin type 4
• Alternate names: proprotein convertase subtilisin/kexin type 4, testicular tissue protein Li 135,
• Gene location: 19p13.3 (1490873: 1481427)     Exons: 31     NC_000019.10
• Gene summary(Entrez): 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 under
• OMIM: 600487

Protein Summary

• Protein general information: Q6UW60  
  • Name: Proprotein convertase subtilisin/kexin type 4 (EC 3.4.21. ) (Proprotein convertase 4) (PC4)
  • Length: 755  
  • Mass: 82795
  • Tissue specificity: Placenta. {ECO
• Sequence:

  MRPAPIALWLRLVLALALVRPRAVGWAPVRAPIYVSSWAVQVSQGNREVERLARKFGFVNLGPIFPDGQYFHLRH
  RGVVQQSLTPHWGHRLHLKKNPKVQWFQQQTLQRRVKRSVVVPTDPWFSKQWYMNSEAQPDLSILQAWSQGLSGQ
  GIVVSVLDDGIEKDHPDLWANYDPLASYDFNDYDPDPQPRYTPSKENRHGTRCAGEVAAMANNGFCGVGVAFNAR
  IGGVRMLDGTITDVIEAQSLSLQPQHIHIYSASWGPEDDGRTVDGPGILTREAFRRGVTKGRGGLGTLFIWASGN
  GGLHYDNCNCDGYTNSIHTLSVGSTTQQGRVPWYSEACASTLTTTYSSGVATDPQIVTTDLHHGCTDQHTGTSAS
  APLAAGMIALALEANPFLTWRDMQHLVVRASKPAHLQAEDWRTNGVGRQVSHHYGYGLLDAGLLVDTARTWLPTQ
  PQRKCAVRVQSRPTPILPLIYIRENVSACAGLHNSIRSLEHVQAQLTLSYSRRGDLEISLTSPMGTRSTLVAIRP
  LDVSTEGYNNWVFMSTHFWDENPQGVWTLGLENKGYYFNTGTLYRYTLLLYGTAEDMTARPTGPQVTSSACVQRD
  TEGLCQACDGPAYILGQLCLAYCPPRFFNHTRLVTAGPGHTAAPALRVCSSCHASCYTCRGGSPRDCTSCPPSST
  LDQQQGSCMGPTTPDSRPRLRAAACPHHRCPASAMVLSLLAVTLGGPVLCGMSMDLPLYAWLSRARATPTKPQVW
  LPAGT

• Structural information:
  • Protein Domains: (126..44-)
    (/note="Peptidase-S8)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01240-)
    (449..58-)
    (/note="P/Homo-B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01173"-)
  • Interpro: IPR006212  IPR008979  IPR009030  IPR034182  IPR002884   IPR000209  IPR036852  IPR023827  IPR022398  IPR023828  IPR015500  IPR032815  IPR038466  
  • Prosite: PS51829 PS51892 PS00136 PS00137 PS00138
  • CDD: cd00064 cd04059
  • STRING: ENSP00000300954
• Other Databases: GeneCards:  PCSK4  Malacards:  PCSK4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0016485	protein processing	IBA	biological process
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0016486	peptide hormone processing	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0016485	protein processing	IDA	biological process
GO:0009566	fertilization	ISS	biological process
GO:0022414	reproductive process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007340	acrosome reaction	ISS	biological process
GO:0007339	binding of sperm to zona pellucida	ISS	biological process
GO:0002080	acrosomal membrane	ISS	cellular component
GO:0001669	acrosomal vesicle	ISS	cellular component
GO:0048240	sperm capacitation	ISS	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0009566	fertilization	IEA	biological process
GO:0048240	sperm capacitation	IEA	biological process
GO:0022414	reproductive process	IEA	biological process
GO:0007340	acrosome reaction	IEA	biological process
GO:0007339	binding of sperm to zona pellucida	IEA	biological process
GO:0002080	acrosomal membrane	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002080	acrosomal membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Low sperm motility	MIK: 21674046
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R