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Pcsk4 Gene Detail
Summary
  • Symbol
    Pcsk4
  • Name
    proprotein convertase subtilisin/kexin type 4
  • Synonyms
    PC4, SPC5
  • Feature Type
    protein coding gene
  • IDs
    MGI:97514
    NCBI Gene: 18551
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:80157117-80165332 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    181 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_97514
 protein coding gene Chr10:80157117-80165583 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017496
 protein coding gene Chr10:80921060-80930263 (-)
A/J MGP_AJ_G0017474
 protein coding gene Chr10:78087644-78095815 (-)
AKR/J MGP_AKRJ_G0017435
 protein coding gene Chr10:80224484-80232700 (-)
BALB/cJ MGP_BALBcJ_G0017436
 protein coding gene Chr10:78317195-78325406 (-)
C3H/HeJ MGP_C3HHeJ_G0017259
 protein coding gene Chr10:80315943-80327077 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017890
 protein coding gene Chr10:83724820-83733321 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015578
 protein coding gene Chr10:74308598-74316569 (-)
CAST/EiJ MGP_CASTEiJ_G0016826
 protein coding gene Chr10:80526099-80534164 (-)
CBA/J MGP_CBAJ_G0017231
 protein coding gene Chr10:86954236-86966529 (-)
DBA/2J MGP_DBA2J_G0017337
 protein coding gene Chr10:77306007-77314152 (-)
FVB/NJ MGP_FVBNJ_G0017331
 protein coding gene Chr10:76496034-76505224 (-)
LP/J MGP_LPJ_G0017408
 protein coding gene Chr10:81392408-81400386 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017357
 protein coding gene Chr10:88896861-88905827 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017931
 protein coding gene Chr10:80211997-80220361 (-)
PWK/PhJ MGP_PWKPhJ_G0016607
 protein coding gene Chr10:77175730-77184703 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016396
 protein coding gene Chr10:79185092-79193169 (-)
WSB/EiJ MGP_WSBEiJ_G0016886
 protein coding gene Chr10:80245359-80253366 (-)



Homology
more
  • Human Ortholog
    PCSK4, proprotein convertase subtilisin/kexin type 4
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCSK4, proprotein convertase subtilisin/kexin type 4
  • Synonyms
    PC4, SPC5
  • Links
    NCBI Gene ID: 54760
    neXtProt AC: NX_Q6UW60
    UniProt: Q6UW60

  • Chr Location
    19p13.3; chr19:1481428-1490876 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PCSK4 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 2 alleles in 3 genetic backgrounds
    17 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.
Mice homozygous for a knock-out allele show reduced male fertility, accelerated sperm capacitation, precocious acrosome reaction, reduced binding of sperm to egg zona pellucida, impaired fertilization, and abnormalities in sperm head/acrosome formation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    8
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
    726
  • Tissues
    15
  • cDNA Data
    16
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020131 Ensembl Gene Model | MGI Sequence Detail 8216 C57BL/6J ±  kb
    transcript ENSMUST00000020340 Ensembl | MGI Sequence Detail 2539 Not Applicable  
    polypeptide ENSMUSP00000020340 Ensembl | MGI Sequence Detail 655 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 10
      cDNA 18
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13194, MGI:2143658, MGI:2143954
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 4
      Gene Ontology 8
      Phenotypes 17
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • 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)
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    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