• Gene id: 5122

Gene Summary

• Gene Symbol: PCSK1   Gene   UCSC   Ensembl
• Aliases: BMIQ12, NEC1, PC1, PC3, SPC3
• Gene name: proprotein convertase subtilisin/kexin type 1
• Alternate names: neuroendocrine convertase 1, prohormone convertase 1, prohormone convertase 3,
• Gene location: 5q15 (96433247: 96390332)     Exons: 15     NC_000005.10
• 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: 608301

Protein Summary

• Protein general information: P29120  
  • Name: Neuroendocrine convertase 1 (NEC 1) (EC 3.4.21.93) (Prohormone convertase 1) (Proprotein convertase 1) (PC1)
  • Length: 753  
  • Mass: 84152
• Sequence:

  MERRAWSLQCTAFVLFCAWCALNSAKAKRQFVNEWAAEIPGGPEAASAIAEELGYDLLGQIGSLENHYLFKHKNH
  PRRSRRSAFHITKRLSDDDRVIWAEQQYEKERSKRSALRDSALNLFNDPMWNQQWYLQDTRMTAALPKLDLHVIP
  VWQKGITGKGVVITVLDDGLEWNHTDIYANYDPEASYDFNDNDHDPFPRYDPTNENKHGTRCAGEIAMQANNHKC
  GVGVAYNSKVGGIRMLDGIVTDAIEASSIGFNPGHVDIYSASWGPNDDGKTVEGPGRLAQKAFEYGVKQGRQGKG
  SIFVWASGNGGRQGDNCDCDGYTDSIYTISISSASQQGLSPWYAEKCSSTLATSYSSGDYTDQRITSADLHNDCT
  ETHTGTSASAPLAAGIFALALEANPNLTWRDMQHLVVWTSEYDPLANNPGWKKNGAGLMVNSRFGFGLLNAKALV
  DLADPRTWRSVPEKKECVVKDNDFEPRALKANGEVIIEIPTRACEGQENAIKSLEHVQFEATIEYSRRGDLHVTL
  TSAAGTSTVLLAERERDTSPNGFKNWDFMSVHTWGENPIGTWTLRITDMSGRIQNEGRIVNWKLILHGTSSQPEH
  MKQPRVYTSYNTVQNDRRGVEKMVDPGEEQPTQENPKENTLVSKSPSSSSVGGRRDELEEGAPSQAMLRLLQSAF
  SKNSPPKQSPKKSPSAKLNIPYENFYEALEKLNKPSQLKDSEDSLYNDYVDVFYNTKPYKHRDDRLLQALVDILN
  EEN

• Structural information:
  • Protein Domains: (129..45-)
    (/note="Peptidase-S8)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01240-)
    (460..59-)
    (/note="P/Homo-B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01173"-)
  • Interpro: IPR008979  IPR034182  IPR002884  IPR000209  IPR036852   IPR023827  IPR022398  IPR023828  IPR015500  IPR022005  IPR032815  IPR038466  
  • Prosite: PS51829 PS51892 PS00136 PS00137 PS00138
  • CDD: cd04059
  • STRING: ENSP00000308024
• Other Databases: GeneCards:  PCSK1  Malacards:  PCSK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043005	neuron projection	IBA	cellular component
GO:0016485	protein processing	IBA	biological process
GO:0005615	extracellular space	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:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006508	proteolysis	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0016486	peptide hormone processing	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0016485	protein processing	IEA	biological process
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0016486	peptide hormone processing	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0043043	peptide biosynthetic process	IEA	biological process
GO:0004252	serine-type endopeptidase activity	ISS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0043043	peptide biosynthetic process	ISS	biological process
GO:0030133	transport vesicle	IEA	cellular component

Diseases

Associated diseases	References
Genetic obesity	KEGG:H02106
Prohormone convertase 1/3 deficiency	KEGG:H02105
Genetic obesity	KEGG:H02106
Prohormone convertase 1/3 deficiency	KEGG:H02105
obesity	PMID:9207799
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881