Proprotein Convertase, Subtilisin/Kexin-Type, 1

Alternative Names

  • PCSK1
  • Neuroendocrine Convertase 1
  • NEC1
  • Proprotein Convertase 1
  • PC1
  • Prohormone Convertase 1
  • Prohormone Convertase 3
  • PC3
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OMIM Number

162150

NCBI Gene ID

5122

Uniprot ID

P29120

Length

43,811 bases

No. of Exons

15

No. of isoforms

2

Protein Name

Neuroendocrine convertase 1

Molecular Mass

84152 Da

Amino Acid Count

753

Genomic Location

chr5:96,390,333-96,434,143

Gene Map Locus
5q15

Description

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. The protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000439.5:c.1312C>TUnited Arab EmiratesNC_000005.10:g.96400071G>ALikely PathogenicProprotein Convertase 1/3 DeficiencyNG_021161.1:g.38211C>T; NM_000439.5:c.1312C>T; NP_000430.3:p.Arg438Ter974974563
NM_000439.5:c.661A>GUnited Arab EmiratesNC_000005.10:g.96416081T>CBenign, Risk factorObesityNG_021161.1:g.22201A>G; NM_000439.5:c.661A>G; NP_000430.3:p.Asn221Asp623214040
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