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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
  • Gene Overview
    MyGene.info: PCSK1
  • Alliance
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
  • Genetic Map
    Chromosome 13, 40.63 cM, cytoband C2
  • Mapping Data
    10 experiments
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: HomoloGene, HGNC
  • Synonyms
    BMIQ12, NEC1, PC1, PC3, SPC3
  • Links
    NCBI Gene ID: 5122
    neXtProt AC: NX_P29120
    UniProt: P29120

  • Chr Location
    5q15; chr5:96390336-96433281 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pcsk1 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
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
    52 phenotypes from 5 alleles in 6 genetic backgrounds
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      391 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 10
      cDNA 16
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12802, MGD-MRK-12804, MGD-MRK-13191, MGD-MRK-13299
    References
    more
    • Summaries
      All 119
      Developmental Gene Expression 32
      Diseases 1
      Gene Ontology 7
      Phenotypes 27
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:251808 Traub S, et al., Pancreatic alpha Cell-Derived Glucagon-Related Peptides Are Required for beta Cell Adaptation and Glucose Homeostasis. Cell Rep. 2017 Mar 28;18(13):3192-3203

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory