PCSK1N
Proprotein Convertase Subtilisin/Kexin Type 1 Inhibitor
Gene Information Card
| Symbol | PCSK1N |
|---|---|
| Full Name | Proprotein Convertase Subtilisin/Kexin Type 1 Inhibitor |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 27344 ncbi.nlm.nih.gov/gene/27344 |
| Ensembl ID | ENSG00000102109 |
| UniProt ID | Q9UHG2 |
| OMIM ID | 300436 |
| HGNC ID | 8743 |
| Aliases | PROSAAS, SAAS, SGNE1, 7B2 |
Description
PCSK1N encodes proSAAS, a neuroendocrine protein that functions as an inhibitor of proprotein convertase 1 (PCSK1). It is involved in the regulation of peptide hormone processing and is expressed in brain and endocrine tissues. Variants in PCSK1N have been associated with obesity and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Loss of PCSK1N inhibition leads to dysregulated PCSK1 activity and altered prohormone processing | PMID: 23536399 |
| Prader-Willi syndrome | Altered expression of PCSK1N in hypothalamus may contribute to hyperphagia | PMID: 17982110 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Pituitary | 8.3 | Medium |
| Pancreas | 6.1 | Medium |
| Adrenal gland | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HeLa | 2.1 | Cervical carcinoma |
| HepG2 | 1.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.394C>T (p.Arg132Cys) | Missense | 0.0002 | Reduced inhibitory activity on PCSK1 |
| c.511G>A (p.Gly171Ser) | Missense | 0.0001 | Unknown |
Mutation functional classification
Loss of Function (LOF)
p.Arg132Cys reduces inhibition of PCSK1, leading to increased prohormone processing.
Gain of Function (GOF)
No known gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity (GO:0004867) | • peptidase inhibitor activity (GO:0030414) |
| • extracellular region (GO:0005576) | • secretory granule (GO:0030141) |
Pathways
• Proprotein convertase processing of prohormones
• Regulation of peptide hormone secretion
Protein Summary
ProSAAS is a 260-amino acid protein that is cleaved into several bioactive peptides. It is stored in secretory granules and released upon stimulation. The N-terminal region inhibits PCSK1, while C-terminal fragments (e.g., big SAAS, little SAAS) may have independent signaling roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCSK1N Knockout HEK293 Cell Line | EDJ-KQ8769 | Human | 27344 | Details Get a Quote |
| PCSK1N Knockout A-549 Cell Line | EDJ-KQ35034 | Human | 27344 | Details Get a Quote |
| PCSK1N Knockout HeLa Cell Line | EDJ-KQ56064 | Human | 27344 | Details Get a Quote |
| PCSK1N Knockout HCT 116 Cell Line | EDJ-KQ73007 | Human | 27344 | Details Get a Quote |
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