PCSK6 - proprotein convertase subtilisin/kexin type 6 Gene

Also Known as SPC4; PACE4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5046

About PCSK6

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:101,303,933-101,489,707 (from NCBI)

This gene has 29 transcripts (splice variants), 196 orthologues and 9 paralogues. Biased expression in spleen (RPKM 31.3), liver (RPKM 30.7) and 12 other tissues.

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 the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]

PCSK6 Products (7)

mRNA Protein Name
NM_001291309.2 NP_001278238.1 proprotein convertase subtilisin/kexin type 6 isoform i preproprotein
NM_002570.5 NP_002561.1 proprotein convertase subtilisin/kexin type 6 isoform PACE4-AI preproprotein
NM_138319.4 NP_612192.1 proprotein convertase subtilisin/kexin type 6 isoform PACE4-AII preproprotein
NM_138322.4 NP_612195.1 proprotein convertase subtilisin/kexin type 6 isoform PACE4B preproprotein
NM_138323.3 NP_612196.1 proprotein convertase subtilisin/kexin type 6 isoform PACE4CS preproprotein
NM_138324.3 NP_612197.1 proprotein convertase subtilisin/kexin type 6 isoform PACE4C preproprotein
NM_138325.4 NP_612198.2 proprotein convertase subtilisin/kexin type 6 isoform f preproprotein
Molecular Function GO Annotation Evidence References Source
enables endopeptidase activity IDA
IDA: Inferred from direct assay
9242664 GOA
enables heparin binding IDA
IDA: Inferred from direct assay
12535616 GOA
enables nerve growth factor binding IDA
IDA: Inferred from direct assay
8615794 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16433634 GOA
enables serine-type endopeptidase activity IDA
IDA: Inferred from direct assay
8218226 GOA
Biological Process GO Annotation Evidence References Source
involved in glycoprotein metabolic process IDA
IDA: Inferred from direct assay
8218226 GOA
involved in nerve growth factor production IDA
IDA: Inferred from direct assay
8615794 GOA
involved in peptide hormone processing IDA
IDA: Inferred from direct assay
9242664 GOA
involved in protein processing IDA
IDA: Inferred from direct assay
8218226 GOA
involved in secretion by cell IDA
IDA: Inferred from direct assay
8615794 GOA
Cellular Component GO Annotation Evidence References Source
located in cell surface IDA
IDA: Inferred from direct assay
12535616 GOA
located in collagen-containing extracellular matrix IDA
IDA: Inferred from direct assay
12535616 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
8906861 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCSK6 Protein Structure

Peptidase_S8

Peptidase_S8: Subtilase family (199 - 486)

P_proprotein

P_proprotein: Proprotein convertase P-domain (538 - 628)

GF_recep_IV

GF_recep_IV: Growth factor receptor domain IV (693 - 810)

PLAC

PLAC: PLAC (protease and lacunin) domain (934 - 965)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 968 a.a.
Protein Preferred Names Protein Names

proprotein convertase subtilisin/kexin type 6

  • paired basic amino acid cleaving enzyme 4

PCSK6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PCSK6 P29122 PCSK5 Homo sapiens Q92824-2 32296183
Intra
PCSK6 P29122 ZNF441 Homo sapiens Q8N8Z8 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PCSK6 Proteins

Cat. No. Product Name Accession Purity
HY-P700617 PCSK6 Protein, Human (His) P29122-1 (R860-G969) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P700621 PCSK6 Protein, Human (HEK293, hFc) P29122-1 (R860-G969) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Anthrax Disease
  • Anthrax

  • Ragpicker'S Disease

  • Black Baine

  • Malignant Edema

  • Malignant Pustule

  • Siberian Plague

  • Wool Sorter'S Disease

  • Gas Gangrene

  • Cutaneous Anthrax

  • Anthrax Infection

  • Splenic Fever

Melon Allergy
  • Cucumis Melo Fruit Allergy

Dyslexia
Arthrogryposis, Distal, Type 1c
  • DA1C

  • Distal Arthrogryposis Type 1c

  • Arthrogryposis, Distal, 1c

Hypobetalipoproteinemia, Familial, 2
  • Familial Hypobetalipoproteinemia 2

  • FHBL2

  • Hypolipidemia, Familial, Combined

  • Combined Familial Hypolipidemia

  • Combined Hypobetalipoproteinemia Familial

  • Hypobetalipoproteinemia, Familial, Type 2

Mitochondrial Complex Ii Deficiency
  • Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency

  • Isolated Succinate-Coenzyme Q Reductase Deficiency

  • Isolated Succinate-Coq Reductase Deficiency

  • Isolated Succinate-Ubiquinone Reductase Deficiency

  • Mitochondrial Respiratory Chain Complex Ii Deficiency

  • Complex 2 Mitochondrial Respiratory Chain Deficiency

  • Succinate Coq Reductase Deficiency

  • Succinate Dehydrogenase Deficiency

  • Isolated Succinate Dehydrogenase Deficiency

  • Succinate-Coenzyme Q Reductase Deficiency

Malaria
  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria

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