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

Gene ID: 18548, updated on 21-Apr-2024

Summary

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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 peptide biosynthetic process and peptide hormone processing. Located in extracellular space. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; female reproductive system; and nose. Used to study 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, Apr 2022]
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

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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_000079.7Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1-like 2, pseudogene Neighboring gene STARR-seq mESC enhancer starr_35028 Neighboring gene STARR-seq mESC enhancer starr_35029 Neighboring gene predicted gene, 30867 Neighboring gene STARR-seq mESC enhancer starr_35030 Neighboring gene STARR-seq mESC enhancer starr_35031 Neighboring gene STARR-seq mESC enhancer starr_35032 Neighboring gene proteasome (prosome, macropain) subunit, alpha type 4 pseudogene Neighboring gene STARR-seq mESC enhancer starr_35036 Neighboring gene STARR-seq mESC enhancer starr_35037 Neighboring gene taxilin alpha pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The G209R mutant mouse as a model for human PCSK1 polyendocrinopathy. Shakya M, et al. Endocrinology, 2022 Mar 4. PMID 35245347, Free PMC Article
  2. Mice lacking PC1/3 expression in POMC-expressing cells do not develop obesity. Shakya M, et al. Endocrinology, 2021 Mar 10. PMID 33693631, Free PMC Article
  3. A novel mutation in the mouse Pcsk1 gene showing obesity and diabetes. Muhsin NIA, et al. Mamm Genome, 2020 Feb. PMID 31974728, Free PMC Article
  4. Proprotein convertase 1 mediated proneuropeptide proteolytic processing in ischemic neuron injury. Tang SS, et al. Bratisl Lek Listy, 2017. PMID 29198128
  5. Defective transport of the obesity mutant PC1/3 N222D contributes to loss of function. Prabhu Y, et al. Endocrinology, 2014 Jul. PMID 24828610, Free PMC Article

See all (142) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. Translation of insulin granule proteins are regulated by PDI and PABP.
    Title: Translation of insulin granule proteins are regulated by PDI and PABP.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC124320, MGC124321

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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
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
  
enables serine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in insulin processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 positive regulation of protein secretion ISO
Inferred from Sequence Orthology
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
  
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axon terminus ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasmic vesicle 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 ISO
Inferred from Sequence Orthology
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 
colocalizes_with secretory granule ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
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
NP_001413216.1
NP_038656.1
XP_006517217.1

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)

  1. 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

  2. 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

  3. 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

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    75237407..75282980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P63239.1 GenPept UniProtKB/Swiss-Prot:P63239

Gene LinkOut

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