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	21873635
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005102	Function	Signaling receptor binding	TAS	10632593
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005802	Component	Trans-Golgi network	IEA
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0009409	Process	Response to cold	IEA
GO:0010951	Process	Negative regulation of endopeptidase activity	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

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	16762588

Unknown
Disease term	Disease name	Evidence	References	Source
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Cognition Disorders	Inhibit	32552841
Lewy Body Disease	Associate	32552841
Neuroendocrine Tumors	Associate	36686485
Obesity	Associate	29132311
Prostatic Neoplasms	Associate	36686485
Prostatic Neoplasms Castration Resistant	Associate	36686485