1. Gene
  2. PCSK4 - proprotein convertase subtilisin/kexin type 4 Gene

PCSK4 - proprotein convertase subtilisin/kexin type 4 Gene

Homo sapiens

Also known as PC4; SPC5

Gene ID: 54760 | Gene type: protein coding

About PCSK4

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,481,428-1,490,876 (from NCBI)

This gene has 13 transcripts (splice variants), 130 orthologues and 9 paralogues. Biased expression in testis (RPKM 19.7) and kidney (RPKM 0.9).

Summary

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]

PCSK4 Products(2)

mRNA Protein Name
NM_001395257.1 NP_001382186.1 proprotein convertase subtilisin/kexin type 4 isoform 2 precursor
NM_017573.5 NP_060043.2 proprotein convertase subtilisin/kexin type 4 isoform 1 preproprotein

PCSK4 Protein Structure

Peptidase_S8

Peptidase_S8: Subtilase family (153 - 439)

P_proprotein

P_proprotein: Proprotein convertase P-domain (489 - 574)

  • 0
  • 200
  • 400
  • 600
  • 755 a.a.
Protein Preferred Names Protein Names

proprotein convertase subtilisin/kexin type 4

testicular tissue protein Li 135

Related Diseases

Diseases Alias
Dilated Cardiomyopathy 1t

Cmd1t

Cardiomyopathy, Dilated, 1t

Hypobetalipoproteinemia, Familial, 2

Familial Hypobetalipoproteinemia 2

FHBL2

Hypolipidemia, Familial, Combined

Combined Familial Hypolipidemia

Combined Hypobetalipoproteinemia Familial

Hypobetalipoproteinemia, Familial, Type 2

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta PCSK4 VGNC VGNC:75786
Felis catus PCSK4 VGNC VGNC:102655
Mus musculus PCSK4 MGD MGI:97514
Canis familiaris PCSK4 VGNC VGNC:44323
Bos taurus PCSK4 VGNC VGNC:55297
Rattus norvegicus PCSK4 RGD RGD:620325