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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 [provided by RefSeq, Jan 2014]
PCSK1 (Proprotein Convertase Subtilisin/Kexin Type 1) is a Protein Coding gene. Diseases associated with PCSK1 include Proprotein Convertase 1/3 Deficiency and Body Mass Index Quantitative Trait Locus 12. Among its related pathways are Neuroscience and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is FURIN.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004175 | endopeptidase activity | IEA | -- |
GO:0004252 | serine-type endopeptidase activity | ISS | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008236 | serine-type peptidase activity | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IBA,IDA | 8397508 |
GO:0016020 | membrane | IBA | 21873635 |
GO:0030133 | transport vesicle | IEA | -- |
GO:0031410 | cytoplasmic vesicle | IEA | -- |
GO:0034774 | secretory granule lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide hormone metabolism | ||
2 | Incretin synthesis, secretion, and inactivation | ||
3 | Neuroscience | ||
4 | Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers | ||
5 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | TAS | 9207799 |
GO:0007267 | cell-cell signaling | TAS | 9207799 |
GO:0016485 | protein processing | IBA | 21873635 |
GO:0016486 | peptide hormone processing | IBA,TAS | -- |
GO:0043043 | peptide biosynthetic process | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Insulin human | Approved, Investigational | Pharma | Enzyme, activator | 0 | ||
Insulin pork | Approved | Pharma | Target | 0 | ||
Calcium | Nutra | 6556 | ||||
Adrenocorticotropic Hormone | Pharma | 196 | ||||
Aluminum hydroxide, magnesium hydroxide, simethicone drug combination | Pharma | 65 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||
SP3: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PCSK1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PCSK1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PCSK1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pcsk1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PCSK1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PCSK1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PCSK1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PCSK1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pcsk1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pcsk1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Fur1 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | bli-4 30 32 |
|
||
kpc-1 32 |
|
|
|||
aex-5 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | KEX2 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
14037 | Pathogenic: Proprotein convertase 1/3 deficiency | 96,421,876(-) | T/G | INTRON_VARIANT | |
710324 | Likely Benign: not provided | 96,429,228(-) | T/C | SYNONYMOUS_VARIANT | |
712066 | Conflicting Interpretations: Proprotein convertase 1/3 deficiency; not provided | 96,410,798(-) | G/A | SYNONYMOUS_VARIANT | |
726753 | Likely Benign: not provided | 96,433,001(-) | G/A | SYNONYMOUS_VARIANT | |
731961 | Likely Benign: not provided | 96,393,118(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3570258 | CNV | loss | 25503493 |
nsv1021263 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
proprotein convertase 1/3 deficiency |
|
|
body mass index quantitative trait locus 12 |
|
|
syndromic obesity |
|
|
hypogonadism |
|
|
kallmann syndrome |
|