PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor [Homo sapiens (human)] - Gene

Summary

Official Symbol: PCSK1Nprovided by HGNC
Official Full Name: proprotein convertase subtilisin/kexin type 1 inhibitorprovided by HGNC
Primary source: HGNC:HGNC:17301
See related: Ensembl:ENSG00000102109 MIM:300399; AllianceGenome:HGNC:17301
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PEN; SAAS; SCG8; BigLEN; SgVIII; PROSAAS
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 this gene may be associated with obesity. [provided by RefSeq, Aug 2013]
Expression: Biased expression in kidney (RPKM 101.8), brain (RPKM 31.9) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (48831096..48835610, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (48241591..48246097, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (48689506..48694012, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

neuronal proSAAS plays an important role in proteostatic processes.
Title: The neural chaperone proSAAS blocks α-synuclein fibrillation and neurotoxicity.
Results show significant differences in distribution of single nucleotide polymorphism in this gene amongst whites and hispanics
Title: Frequencies of obesity susceptibility alleles among ethnically and racially diverse bariatric patient populations.
Cloning of proSAAS homologs in Danio and Xenopus identifies conserved, putatively functional areas.
Title: Identification of proSAAS homologs in lower vertebrates: conservation of hydrophobic helices and convertase-inhibiting sequences.
ProSAAS or proSAAS-like molecules are trapped within tau fibrils and accumulate in tau inclusions in patients with Alzheimer's disease and parkinsonism-dementia complex.
Title: A human granin-like neuroendocrine peptide precursor (proSAAS) immunoreactivity in tau inclusions of Alzheimer's disease and parkinsonism-dementia complex on Guam.
although both proSAAS and 7B2 potently inhibit PC enzymes via a C-terminal peptide, their intracellular interactions with PCs appear to differ significantly, with each binding protein exhibiting unique properties
Title: Functional characterization of ProSAAS: similarities and differences with 7B2.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed

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

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: proSAAS

Names: granin-like neuroendocrine peptide; pro-SAAS; proprotein convertase 1 inhibitor

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.