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Pcsk1 Gene Detail
Summary
  • Symbol
    Pcsk1
  • Name
    proprotein convertase subtilisin/kexin type 1
  • Synonyms
    Nec1, Nec-1, PC1, PC3, Phpp-1, prohormone convertase 1/3, SPC3
  • Feature Type
    protein coding gene
  • IDs
    MGI:97511
    NCBI Gene: 18548
Location & Maps
more
  • Sequence Map
    Chr13:75089826-75132498 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      42673 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PCSK1, proprotein convertase subtilisin/kexin type 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PCSK1, proprotein convertase subtilisin/kexin type 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BMIQ12, NEC1, PC1, PC3, SPC3
  • Links
    NCBI Gene ID: 5122
    neXtProt AC: NX_P29120

  • Chr Location
    5q15-q21; chr5:96390336-96433281 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pcsk1 mouse models; 1 with human PCSK1 associations

Human Disease Mouse Models
       Obesity   OMIM: 601665 View 1 model
       Proprotein Convertase 1/3 Deficiency   OMIM: 600955
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    47 phenotypes from 3 alleles in 4 genetic backgrounds
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Pcsk1
  • Incidental Mutations
Homozygotes for a null allele show pre- and postnatal death, low weight, diarrhea, hypoglycemia, low insulin and GHRH levels, and lack mature glucagon and ACTH levels. Homozygotes for another null allele die prior to implantation. ENU mutants show obesity, polyphagia and higher metabolic efficiency.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026053 VEGA Gene Model | MGI Sequence Detail 42673 C57BL/6J ±  kb
transcript OTTMUST00000064311 VEGA | MGI Sequence Detail 2677 Not Applicable  
polypeptide OTTMUSP00000031918 VEGA | MGI Sequence Detail 753 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    396 from dbSNP Build 137
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 28
    Genomic 10
    cDNA 16
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-12802, MGD-MRK-12804, MGD-MRK-13191, MGD-MRK-13299
References
more
  • Summaries
    All 102
    Developmental Gene Expression 28
    Diseases 1
    Gene Ontology 6
    Phenotypes 23
  • Earliest
    J:10744 Seidah NG, et al., cDNA sequence of two distinct pituitary proteins homologous to Kex2 and furin gene products: tissue-specific mRNAs encoding candidates for pro-hormone processing proteinases [published erratum appears in DNA Cell Biol 1990 Dec;9(10):789]. DNA Cell Biol. 1990 Jul-Aug;9(6):415-24
  • Latest
    J:218695 Soggia A, et al., von Hippel-Lindau gene disruption in mouse pancreatic progenitors and its consequences on endocrine differentiation in vivo: importance of HIF1-alpha and VEGF-A upregulation. Diabetologia. 2014 Nov;57(11):2348-56

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory