Pcsk1 proprotein convertase subtilisin/kexin type 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pcsk1provided by MGI
Official Full Name: proprotein convertase subtilisin/kexin type 1provided by MGI
Primary source: MGI:MGI:97511
See related: Ensembl:ENSMUSG00000021587 AllianceGenome:MGI:97511
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: PC1; PC3; Nec1; SPC3; Nec-1; Phpp-1
Summary: Enables identical protein binding activity and serine-type endopeptidase activity. Involved in insulin processing and peptide biosynthetic process. Located in extracellular space. Is active in secretory granule. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; female reproductive system; and nose. Used to study endocrine system disease and obesity. Human ortholog(s) of this gene implicated in obesity and proprotein convertase 1/3 deficiency. Orthologous to human PCSK1 (proprotein convertase subtilisin/kexin type 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in frontal lobe adult (RPKM 4.5), cortex adult (RPKM 4.0) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C1; 13 40.63 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (75237407..75282980)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (75089420..75134861)

Chromosome 13 - NC_000079.7 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: 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?

Islet MC4R Regulates PC1/3 to Improve Insulin Secretion in T2DM Mice via the cAMP and beta-arrestin-1 Pathways.
Title: Islet MC4R Regulates PC1/3 to Improve Insulin Secretion in T2DM Mice via the cAMP and β-arrestin-1 Pathways.
A survey of the mouse hindbrain in the fed and fasted states using single-nucleus RNA sequencing.
Title: A survey of the mouse hindbrain in the fed and fasted states using single-nucleus RNA sequencing.
A novel mutation in the mouse Pcsk1 gene showing obesity and diabetes.
Title: A novel mutation in the mouse Pcsk1 gene showing obesity and diabetes.
Translation of insulin granule proteins are regulated by PDI and PABP.
Title: Translation of insulin granule proteins are regulated by PDI and PABP.
pancreatic cancer-derived exosomes (Exo-Mia) suppress the synthesis of GIP and GLP-1 from STC-1cells in vitro by down-regulating the PCSK1/3
Title: Pancreatic cancer-derived exosomes suppress the production of GIP and GLP-1 from STC-1 cells in vitro by down-regulating the PCSK1/3.
Study reveals a significant reduction of tachykinin and opioid neuropeptides level in proprotein convertase 1 and proprotein convertase 2 mutant mouse spinal cords.
Title: Targeted high-resolution quadrupole-Orbitrap mass spectrometry analyses reveal a significant reduction of tachykinin and opioid neuropeptides level in PC1 and PC2 mutant mouse spinal cords.
Oxygen and glucose deprivation or middle cerebral artery occlusion stress caused substantial cell death in a dose-dependent manner. With the increasing OGD dose, proPC1 and PC1 proteins gradually increased. In vivo the proPC1 and PC1 expressions presented with a peak at 4-h and then decreased at 24-h reperfusion. The results suggest that the increasing PC1 expression promoted the transformation of proCgA into CgA or small
Title: Proprotein convertase 1 mediated proneuropeptide proteolytic processing in ischemic neuron injury.
investigation of the pathogenesis of obesity in the PC1/3-N222D mouse model and whether this molecular mechanism also applies to common and rare human PCSK1 mutations
Title: Endoplasmic reticulum-associated degradation of the mouse PC1/3-N222D hypomorph and human PCSK1 mutations contributes to obesity.
These pathways are consistent with previously reported behavioral and biochemical phenotypes that typify mice lacking ENT1. Moreover, we validated decreased expression of the SNARE complex protein VAMP1 (synaptobrevin-1) in the dHip as well as decreased expression of pro-dynorphin (PDYN), neuroendocrine convertase (PCSK1), and Leu-Enkephalin (dynorphin-A) in the nucleus accumbens
Title: Label-Free Neuroproteomics of the Hippocampal-Accumbal Circuit Reveals Deficits in Neurotransmitter and Neuropeptide Signaling in Mice Lacking Ethanol-Sensitive Adenosine Transporter.
findings suggest that the major neuroendocrine features of Prader-Willi syndrome are due to PC1 deficiency
Title: Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (3) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pcsk1 (e-PCR), detects polymorphism
- UniSTS:532489

M58589 (e-PCR)
- UniSTS:124959

M58589 (e-PCR)
- UniSTS:160321

D1S3695 (e-PCR)
- UniSTS:474273

Pcsk1 (e-PCR), detects polymorphism
- UniSTS:525264

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in insulin processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in pancreas development	IEA Inferred from Electronic Annotation more info
involved_in peptide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide hormone processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide hormone processing	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide hormone processing	ISO Inferred from Sequence Orthology more info
involved_in pituitary gland development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein secretion	ISO Inferred from Sequence Orthology more info
involved_in protein autoprocessing	IEA Inferred from Electronic Annotation more info
involved_in protein autoprocessing	ISO Inferred from Sequence Orthology more info
involved_in protein processing	IDA Inferred from Direct Assay more info	PubMed
involved_in protein processing	ISO Inferred from Sequence Orthology more info
involved_in response to axon injury	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in response to chlorate	IEA Inferred from Electronic Annotation more info
involved_in response to fatty acid	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	IEA Inferred from Electronic Annotation more info
involved_in response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient levels	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon terminus	IEA Inferred from Electronic Annotation more info
located_in axon terminus	ISO Inferred from Sequence Orthology more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
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
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in secretory granule	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule	ISO Inferred from Sequence Orthology more info
located_in secretory granule lumen	TAS Traceable Author Statement more info
located_in trans-Golgi network	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info
located_in transport vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neuroendocrine convertase 1

Names: furin homolog; prohormone convertase 1; prohormone convertase 1/3; propeptide-processing protease

NP_001413214.1

EC 3.4.21.93

NP_001413216.1

EC 3.4.21.93

NP_038656.1

EC 3.4.21.93

XP_006517217.1

EC 3.4.21.93

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.

mRNA and Protein(s)

NM_001426285.1 → NP_001413214.1 neuroendocrine convertase 1 precursor

Status: VALIDATED

Source sequence(s)

AC158543

UniProtKB/Swiss-Prot

P21662, P22546, P63239

UniProtKB/TrEMBL

Q32MU0
NM_001426287.1 → NP_001413216.1 neuroendocrine convertase 1 precursor

Status: VALIDATED

Source sequence(s)

AC158543

UniProtKB/Swiss-Prot

P21662, P22546, P63239

UniProtKB/TrEMBL

Q32MU0
NM_013628.3 → NP_038656.1 neuroendocrine convertase 1 precursor

See identical proteins and their annotated locations for NP_038656.1

Status: VALIDATED

Source sequence(s)

AC158543

Consensus CDS

CCDS26649.1

UniProtKB/Swiss-Prot

P21662, P22546, P63239

UniProtKB/TrEMBL

Q32MU0

Related

ENSMUSP00000022075.5, ENSMUST00000022075.6

Conserved Domains (4) summary

cd04059
Location:121 → 415

Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases

pfam01483
Location:504 → 591

P_proprotein; Proprotein convertase P-domain

pfam12177
Location:715 → 751

Proho_convert; Prohormone convertase enzyme

pfam16470
Location:34 → 110

S8_pro-domain; Peptidase S8 pro-domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

75237407..75282980

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006517154.4 → XP_006517217.1 neuroendocrine convertase 1 isoform X1

See identical proteins and their annotated locations for XP_006517217.1

UniProtKB/Swiss-Prot

P21662, P22546, P63239

UniProtKB/TrEMBL

Q32MU0

Conserved Domains (4) summary

cd04059
Location:121 → 415

Peptidases_S8_Protein_convertases_Kexins_Furin-lik; Peptidase S8 family domain in Protein convertases

pfam01483
Location:504 → 591

P_proprotein; Proprotein convertase P-domain

pfam12177
Location:715 → 751

Proho_convert; Prohormone convertase enzyme

pfam16470
Location:34 → 110

S8_pro-domain; Peptidase S8 pro-domain