Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pcsk1nprovided by MGI
Official Full Name: proprotein convertase subtilisin/kexin type 1 inhibitorprovided by MGI
Primary source: MGI:MGI:1353431
See related: Ensembl:ENSMUSG00000039278 AllianceGenome:MGI:1353431
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: KEP; PEN; Pan3; SAAS; bLEN; lLEN; PEN19; PEN20; SAASCT; proSAAS
Summary: Enables serine-type endopeptidase inhibitor activity. Acts upstream of or within peptide hormone processing; response to cold; and response to dietary excess. Located in extracellular space; secretory granule; and trans-Golgi network. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; nervous system; and sensory organ. Orthologous to human PCSK1N (proprotein convertase subtilisin/kexin type 1 inhibitor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cortex adult (RPKM 181.9), cerebellum adult (RPKM 139.1) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.1; X 3.57 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (7786061..7790649)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (7919822..7924410)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mice lacking proSAAS display alterations in emotion, consummatory behavior and circadian entrainment.
Title: Mice lacking proSAAS display alterations in emotion, consummatory behavior and circadian entrainment.
Increased expression and retention of the secretory chaperone proSAAS following cell stress.
Title: Increased expression and retention of the secretory chaperone proSAAS following cell stress.
These analyses revealed that proSAAS KO mice show blunted acute responses to cocaine- and amphetamine (AMPH) in the open field, an absence of behavioral sensitization to cocaine, an inability to maintain sensitization to AMPH, and normal responses to the rewarding properties of cocaine in conditioned place preference.
Title: ProSAAS-derived peptides are regulated by cocaine and are required for sensitization to the locomotor effects of cocaine.
proSAAS may play a role in Alzheimer's disease pathology
Title: A novel function for proSAAS as an amyloid anti-aggregant in Alzheimer's disease.
the effects of the neuroendocrine secretory proteins proSAAS on hIAPP fibrillation in vitro and on cytotoxicity.
Title: Blockade of islet amyloid polypeptide fibrillation and cytotoxicity by the secretory chaperones 7B2 and proSAAS.
proSAAS as a novel down-regulated target of Pax6
Title: Pax6 directly down-regulates Pcsk1n expression thereby regulating PC1/3 dependent proinsulin processing.
ProSAAS-derived peptides are colocalized with neuropeptide Y and function as neuropeptides in the regulation of food intake
Title: ProSAAS-derived peptides are colocalized with neuropeptide Y and function as neuropeptides in the regulation of food intake.
mice lacking proSAAS have normal levels of all peptides suggesting that prohormone convertase 1 activity is not affected by the absence of proSAAS in adult mice
Title: The propeptide precursor proSAAS is involved in fetal neuropeptide processing and body weight regulation.
ProSAAS and prohormone convertase 1 are broadly expressed during mouse development
Title: ProSAAS and prohormone convertase 1 are broadly expressed during mouse development.
Although proSAAS expression overlaps with PC1 in several regions, its overall expression pattern is significantly more extensive, suggesting that proSAAS may be multifunctional during nervous system development.
Title: Embryonic gene expression and pro-protein processing of proSAAS during rodent development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pcsk1n (e-PCR), detects polymorphism
- UniSTS:532490

AI848336 (e-PCR)
- UniSTS:186167

Pcsk1n (e-PCR), detects polymorphism
- UniSTS:507117

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in neuropeptide signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within peptide hormone processing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to cold	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to dietary excess	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in secretory granule	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: proSAAS

Names: IA-4; basic protein IA-4; big PEN LEN; big SAAS; granin-like neuroendocrine peptide; little LEN; little SAAS; pancreas protein 3; pro-SAAS; proprotein convertase 1 inhibitor; protein serine alanine alanine serine

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.