• Gene id: 5046

Gene Summary

• Gene Symbol: PCSK6   Gene   UCSC   Ensembl
• Aliases: PACE4, SPC4
• Gene name: proprotein convertase subtilisin/kexin type 6
• Alternate names: proprotein convertase subtilisin/kexin type 6, paired basic amino acid cleaving enzyme 4, paired basic amino acid cleaving system 4, subtilisin-like proprotein convertase 4, subtilisin/kexin-like protease PACE4,
• Gene location: 15q26.3 (101489983: 101303927)     Exons: 13     NC_000015.10
• 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: 167405

SNPs

rs12088543

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.84252300T>C
NC_000001.10   g.84717983T>C|SEQ=[T/C]|GENE=LOC107985046

Protein Summary

• Protein general information: P29122  
  • Name: Proprotein convertase subtilisin/kexin type 6 (EC 3.4.21. ) (Paired basic amino acid cleaving enzyme 4) (Subtilisin like proprotein convertase 4) (SPC4) (Subtilisin/kexin like protease PACE4)
  • Length: 969  
  • Mass: 106420
  • 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 le
• Sequence:

  MPPRAPPAPGPRPPPRAAAATDTAAGAGGAGGAGGAGGPGFRPLAPRPWRWLLLLALPAACSAPPPRPVYTNHWA
  VQVLGGPAEADRVAAAHGYLNLGQIGNLEDYYHFYHSKTFKRSTLSSRGPHTFLRMDPQVKWLQQQEVKRRVKRQ
  VRSDPQALYFNDPIWSNMWYLHCGDKNSRCRSEMNVQAAWKRGYTGKNVVVTILDDGIERNHPDLAPNYDSYASY
  DVNGNDYDPSPRYDASNENKHGTRCAGEVAASANNSYCIVGIAYNAKIGGIRMLDGDVTDVVEAKSLGIRPNYID
  IYSASWGPDDDGKTVDGPGRLAKQAFEYGIKKGRQGLGSIFVWASGNGGREGDYCSCDGYTNSIYTISVSSATEN
  GYKPWYLEECASTLATTYSSGAFYERKIVTTDLRQRCTDGHTGTSVSAPMVAGIIALALEANSQLTWRDVQHLLV
  KTSRPAHLKASDWKVNGAGHKVSHFYGFGLVDAEALVVEAKKWTAVPSQHMCVAASDKRPRSIPLVQVLRTTALT
  SACAEHSDQRVVYLEHVVVRTSISHPRRGDLQIYLVSPSGTKSQLLAKRLLDLSNEGFTNWEFMTVHCWGEKAEG
  QWTLEIQDLPSQVRNPEKQGKLKEWSLILYGTAEHPYHTFSAHQSRSRMLELSAPELEPPKAALSPSQVEVPEDE
  EDYTAQSTPGSANILQTSVCHPECGDKGCDGPNADQCLNCVHFSLGSVKTSRKCVSVCPLGYFGDTAARRCRRCH
  KGCETCSSRAATQCLSCRRGFYHHQEMNTCVTLCPAGFYADESQKNCLKCHPSCKKCVDEPEKCTVCKEGFSLAR
  GSCIPDCEPGTYFDSELIRCGECHHTCGTCVGPGREECIHCAKNFHFHDWKCVPACGEGFYPEEMPGLPHKVCRR
  CDENCLSCAGSSRNCSRCKTGFTQLGTSCITNHTCSNADETFCEMVKSNRLCERKLFIQFCCRTCLLAG

• Structural information:
  • Protein Domains: (168..48-)
    (/note="Peptidase-S8)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01240-)
    (495..63-)
    (/note="P/Homo-B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01173-)
    (931..96-)
    (/note="PLAC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR000742  IPR006212  IPR008979  IPR032778  IPR009030   IPR034182  IPR002884  IPR000209  IPR036852  IPR023827  IPR022398  IPR023828  IPR015500  IPR010909  IPR032815  IPR038466  
  • Prosite: PS51829 PS50900 PS51892 PS00136 PS00137 PS00138
  • CDD: cd00064 cd04059
  • DIP: 29903
  • STRING: ENSP00000482760
• Other Databases: GeneCards:  PCSK6  Malacards:  PCSK6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009986	cell surface	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0016486	peptide hormone processing	IBA	biological process
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0016485	protein processing	IBA	biological process
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0032455	nerve growth factor processing	TAS	biological process
GO:0051004	regulation of lipoprotein lipase activity	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016485	protein processing	IEA	biological process
GO:0007354	zygotic determination of anterior/posterior axis, embryo	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0048406	nerve growth factor binding	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0008201	heparin binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0009100	glycoprotein metabolic process	IDA	biological process
GO:0016485	protein processing	IDA	biological process
GO:0016485	protein processing	IDA	biological process
GO:0016485	protein processing	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0032902	nerve growth factor production	IDA	biological process
GO:0030510	regulation of BMP signaling pathway	TAS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0016486	peptide hormone processing	IDA	biological process
GO:0032940	secretion by cell	IDA	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 21412036
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq