Proprotein convertase subtilisin/kexin type 1 inhibitor

PCSK1N
Identifiers
Aliases	PCSK1N, PROSAAS, SAAS, SCG8, SgVIII, BigLEN, PEN, proprotein convertase subtilisin/kexin type 1 inhibitor
External IDs	OMIM: 300399 MGI: 1353431 HomoloGene: 8315 GeneCards: PCSK1N
Gene location (Human)
Chr.	X chromosome (human)
End	48,835,610 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	7,924,410 bp
Gene ontology
Molecular function	• endopeptidase inhibitor activity; • signaling receptor binding; • serine-type endopeptidase inhibitor activity;
Cellular component	• extracellular region; • trans-Golgi network; • Golgi apparatus; • secretory granule; • extracellular space;
Biological process	• response to dietary excess; • response to cold; • neuropeptide signaling pathway; • peptide hormone processing; • negative regulation of endopeptidase activity;
	Sources:Amigo / QuickGO
Orthologs
	27344
	30052
	ENSG00000102109
	ENSMUSG00000039278
	Q9UHG2
	Q9QXV0
	NM_013271
	NM_013892
	NP_037403
	NP_038920
	Wikidata
View/Edit Human	View/Edit Mouse

Proprotein convertase subtilisin/kexin type 1 inhibitor is a protein by the name of proSAAS that in humans is encoded by the PCSK1N gene. ^[5]

Function[]

This protein is expressed largely in cells possessing a regulated secretory pathway, such as endocrine/neuroendocrine cells and neurons. The intact proSAAS protein, as well as the carboxyy-terminal peptide containing the inhibitory hexapeptide LLRVKR, functions as an inhibitor of prohormone convertase 1/3, which regulates the proteolytic cleavage of peptide precursors. ProSAAS is further processed into multiple short peptides. Differential expression of this gene may be associated with obesity. The central, unprocessed portion of the protein may function as a neural- and endocrine-specific chaperone due to its potent ability to block the aggregation of beta amyloid and alpha synuclein in vitro, and to block oligomer cytotoxicity in cells.^[6]^[7]

References[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000102109 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039278 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Proprotein convertase subtilisin/kexin type 1 inhibitor". Retrieved 2017-02-28.
^ Jarvela TS, Lam HA, Helwig M, Lorenzen N, Otzen DE, McLean PJ, Maidment NT, Lindberg I (2016). "The neural chaperone proSAAS blocks α-synuclein fibrillation and neurotoxicity". Proc Natl Acad Sci U S A. 113 (32): E4708-15. doi:10.1073/pnas.1601091113. PMC 4987805. PMID 27457957.
^ Hoshino A, Helwig M, Rezaei S, Berridge C, Eriksen JL, Lindberg I (2014). "A novel function for proSAAS as an amyloid anti-aggregant in Alzheimer's disease". J Neurochem. 128 (3): 419–30. doi:10.1111/jnc.12454. PMC 3946950. PMID 24102330.

Further reading[]

Fortenberry Y, Hwang JR, Apletalina EV, Lindberg I (2002). "Functional characterization of ProSAAS: similarities and differences with 7B2". J. Biol. Chem. 277 (7): 5175–86. doi:10.1074/jbc.M104531200. PMID 11719503.
Wada M, Ren CH, Koyama S, Arawaka S, Kawakatsu S, Kimura H, Nagasawa H, Kawanami T, Kurita K, Daimon M, Hirano A, Kato T (2004). "A human granin-like neuroendocrine peptide precursor (proSAAS) immunoreactivity in tau inclusions of Alzheimer's disease and parkinsonism-dementia complex on Guam". Neurosci. Lett. 356 (1): 49–52. doi:10.1016/j.neulet.2003.11.028. PMID 14746899. S2CID 46034652.
Kudo H, Liu J, Jansen EJ, Ozawa A, Panula P, Martens GJ, Lindberg I (2009). "Identification of proSAAS homologs in lower vertebrates: conservation of hydrophobic helices and convertase-inhibiting sequences". Endocrinology. 150 (3): 1393–9. doi:10.1210/en.2008-1301. PMC 2654743. PMID 18948394.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by .

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000102109 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039278 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Proprotein convertase subtilisin/kexin type 1 inhibitor". Retrieved 2017-02-28.

[6] Jarvela TS, Lam HA, Helwig M, Lorenzen N, Otzen DE, McLean PJ, Maidment NT, Lindberg I (2016). "The neural chaperone proSAAS blocks α-synuclein fibrillation and neurotoxicity". Proc Natl Acad Sci U S A. 113 (32): E4708-15. doi:10.1073/pnas.1601091113. PMC 4987805. PMID 27457957.

[7] Hoshino A, Helwig M, Rezaei S, Berridge C, Eriksen JL, Lindberg I (2014). "A novel function for proSAAS as an amyloid anti-aggregant in Alzheimer's disease". J Neurochem. 128 (3): 419–30. doi:10.1111/jnc.12454. PMC 3946950. PMID 24102330.

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