PCSK1N (proprotein convertase subtilisin/kexin type 1 inhibitor)

Gene

• Entrez ID: 27344
• Gene name: Proprotein convertase subtilisin/kexin type 1 inhibitor
• Gene symbol: PCSK1N
• Synonyms (NCBI Gene): BigLEN, PEN, PROSAAS, SAAS, SCG8, SgVIII
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049890	hsa-miR-31-5p	CLASH	23622248
MIRT1218445	hsa-miR-3064-5p	CLIP-seq
MIRT1218446	hsa-miR-3151	CLIP-seq
MIRT1218447	hsa-miR-3652	CLIP-seq
MIRT1218448	hsa-miR-382	CLIP-seq
MIRT1218449	hsa-miR-4265	CLIP-seq
MIRT1218450	hsa-miR-4296	CLIP-seq
MIRT1218451	hsa-miR-4322	CLIP-seq
MIRT1218452	hsa-miR-4430	CLIP-seq
MIRT1218453	hsa-miR-4446-3p	CLIP-seq
MIRT1218454	hsa-miR-4447	CLIP-seq
MIRT1218455	hsa-miR-4472	CLIP-seq
MIRT1218456	hsa-miR-4492	CLIP-seq
MIRT1218457	hsa-miR-4498	CLIP-seq
MIRT1218458	hsa-miR-4505	CLIP-seq
MIRT1218459	hsa-miR-4640-5p	CLIP-seq
MIRT1218460	hsa-miR-4713-3p	CLIP-seq
MIRT1218461	hsa-miR-4721	CLIP-seq
MIRT1218462	hsa-miR-4726-5p	CLIP-seq
MIRT1218463	hsa-miR-4743	CLIP-seq
MIRT1218464	hsa-miR-491-5p	CLIP-seq
MIRT1218465	hsa-miR-555	CLIP-seq
MIRT1218466	hsa-miR-762	CLIP-seq
MIRT2063204	hsa-miR-1908	CLIP-seq
MIRT2063205	hsa-miR-4456	CLIP-seq
MIRT2063206	hsa-miR-663	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002021	Process	Response to dietary excess	IEA
GO:0004866	Function	Endopeptidase inhibitor activity	IBA
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	10632593
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005102	Function	Signaling receptor binding	TAS	10632593
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	10632593
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IEA
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0009409	Process	Response to cold	IEA
GO:0016486	Process	Peptide hormone processing	IEA
GO:0030141	Component	Secretory granule	IEA

Other IDs

• MIM: 300399
• HGNC: 17301
• e!Ensembl: ENSG00000102109

Protein

• UniProt ID: Q9UHG2
• Protein name: ProSAAS (Proprotein convertase subtilisin/kexin type 1 inhibitor) (Proprotein convertase 1 inhibitor) (pro-SAAS) [Cleaved into: KEP; Big SAAS (b-SAAS); Little SAAS (l-SAAS) (N-proSAAS); Big PEN-LEN (b-PEN-LEN) (SAAS CT(1-49)); PEN; Little LEN (l-LEN); Big
• Protein 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 P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07259	ProSAAS	34 → 257	ProSAAS precursor	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain and pancreas. {ECO:0000269|PubMed:10632593}.
• Sequence:

  MAGSPLLWGPRAGGVGLLVLLLLGLFRPPPALCARPVKEPRGLSAASPPLAETGAPRRFR
  RSVPRGEAAGAVQELARALAHLLEAERQERARAEAQEAEDQQARVLAQLLRVWGAPRNSD
  PALGLDDDPDAPAAQLARALLRARLDPAALAAQLVPAPVPAAALRPRPPVYDDGPAGPDA
  EEAGDETPDVDPELLRYLLGRILAGSADSEGVAAPRRLRRAADHDVGSELPPEGVLGALL
  RVKRLETPAPQVPARRLLPP

• Sequence length: 260

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28863304		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28863304		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28678532		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32552841	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30464772		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	28864778		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28675047		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	32552841	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28678532		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30039361, 30857829		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30319081		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28425495		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30735385		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29132311	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	LHGDN	12914799		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36686485	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	31649014		★☆☆☆☆ Found in Text Mining only