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Pcsk1 Gene Detail
Summary
  • Symbol
    Pcsk1
  • Name
    proprotein convertase subtilisin/kexin type 1
  • Synonyms
    Nec-1, Nec1, PC1, PC3, Phpp-1, prohormone convertase 1/3, SPC3
  • Feature Type
    protein coding gene
  • IDs
    MGI:97511
    NCBI Gene: 18548
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:75237945-75282980 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 40.63 cM, cytoband C2
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1253 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97511
 protein coding gene Chr13:75237407-75282980 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020770
 protein coding gene Chr13:75633729-75678712 (+)
A/J MGP_AJ_G0020726
 protein coding gene Chr13:73021066-73064765 (+)
AKR/J MGP_AKRJ_G0020699
 protein coding gene Chr13:75248661-75292431 (+)
BALB/cJ MGP_BALBcJ_G0020722
 protein coding gene Chr13:73505104-73547799 (+)
C3H/HeJ MGP_C3HHeJ_G0020516
 protein coding gene Chr13:74952711-74996377 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021159
 protein coding gene Chr13:78169435-78212249 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018727
 protein coding gene Chr13:69894286-69936351 (+)
CAST/EiJ MGP_CASTEiJ_G0020034
 protein coding gene Chr13:74036750-74078201 (+)
CBA/J MGP_CBAJ_G0020475
 protein coding gene Chr13:81128177-81170805 (+)
DBA/2J MGP_DBA2J_G0020600
 protein coding gene Chr13:72755372-72798782 (+)
FVB/NJ MGP_FVBNJ_G0020580
 protein coding gene Chr13:71798199-71840890 (+)
LP/J MGP_LPJ_G0020673
 protein coding gene Chr13:75887352-75930038 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020609
 protein coding gene Chr13:79526455-79569712 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021199
 protein coding gene Chr13:74582931-74626589 (+)
PWK/PhJ MGP_PWKPhJ_G0019787
 protein coding gene Chr13:71630020-71671045 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019610
 protein coding gene Chr13:70940783-70983271 (+)
WSB/EiJ MGP_WSBEiJ_G0020091
 protein coding gene Chr13:75085128-75132105 (+)



Homology
more
  • Human Ortholog
    PCSK1, proprotein convertase subtilisin/kexin type 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCSK1, proprotein convertase subtilisin/kexin type 1
  • Synonyms
    BMIQ12, NEC1, PC1, PC1/3, PC3, SPC3
  • Links
    NCBI Gene ID: 5122
    neXtProt AC: NX_P29120
    UniProt: P29120

  • Chr Location
    5q15; chr5:96390333-96434143 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pcsk1 mouse models; 2 with human PCSK1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    67 phenotypes from 6 alleles in 7 genetic backgrounds
    34 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
less
  • All GO Annotations
    51
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    955
  • Tissues
    153
  • cDNA Data
    16
  • Literature Summary
    35
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021587 Ensembl Gene Model | MGI Sequence Detail 45036 C57BL/6J ±  kb
    transcript ENSMUST00000022075 Ensembl | MGI Sequence Detail 5040 Not Applicable  
    polypeptide ENSMUSP00000022075 Ensembl | MGI Sequence Detail 753 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      Genomic 10
      cDNA 17
      Primer pair 5
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12802, MGD-MRK-12804, MGD-MRK-13191, MGD-MRK-13299
    References
    more
    • Summaries
      All 132
      Developmental Gene Expression 35
      Diseases 2
      Gene Ontology 10
      Phenotypes 34
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory