| Gene Symbol |
PCSK1N
|
| Entrez Gene |
27344
|
| Alt Symbol |
PROSAAS, SAAS, SCG8, SgVIII
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
proprotein convertase subtilisin/kexin type 1 inhibitor
|
| Other Description |
granin-like neuroendocrine peptide|pro-SAAS|proSAAS|proprotein convertase 1 inhibitor
|
| Swissprots |
Q9UHG2 Q4VC04
|
| Accessions |
EAW50742 Q9UHG2 AA706516 AF181562 AAF22643 BC002851 AAH02851 BC094731 BX459856 DQ893525 ABM84451 HY114016 HY348068 NM_013271 NP_037403
|
| Function |
May function in the control of the neuroendocrine secretory pathway. Proposed be a specific endogenous inhibitor of PCSK1. ProSAAS and Big PEN-LEN, both containing the C-terminal inhibitory domain, but not the further processed peptides reduce PCSK1 activity in the endoplasmic reticulum and Golgi. It reduces the activity of the 84 kDa form but not the autocatalytically derived 66 kDa form of PCSK1. Subsequent processing of proSAAS may eliminate the inhibition. Slows down convertase-mediated processing of proopiomelanocortin and proenkephalin. May control the intracellular timing of PCSK1 rather than its total level of activity. The function of the processed secreted peptides is not known (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Secreted {ECO:0000250}. Golgi apparatus, trans-Golgi network {ECO:0000250}. Note=A N-terminal processed peptide, probably Big SAAS or Little SAAS, is accumulated in cytoplasmic protein tau deposits in frontotemporal dementia and parkinsonism linked to chromosome 17 (Pick disease), Alzheimer disease and amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 (Guam disease). {ECO:0000269|PubMed:12914799, ECO:0000269|PubMed:14746899}.
|
| Tissue Specificity |
Expressed in brain and pancreas. {ECO:0000269|PubMed:10632593}.
|