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Pcolce Gene Detail
Summary
  • Symbol
    Pcolce
  • Name
    procollagen C-endopeptidase enhancer protein
  • Synonyms
    Astt2, Astt-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:105099
    NCBI Gene: 18542
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:137603369-137609666 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 76.59 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    56 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_105099
 protein coding gene Chr5:137603365-137612046 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030234
 protein coding gene Chr5:142381213-142390006 (-)
A/J MGP_AJ_G0030202
 protein coding gene Chr5:136170034-136178715 (-)
AKR/J MGP_AKRJ_G0030135
 protein coding gene Chr5:140599646-140608607 (-)
BALB/cJ MGP_BALBcJ_G0030212
 protein coding gene Chr5:137538386-137547067 (-)
C3H/HeJ MGP_C3HHeJ_G0029928
 protein coding gene Chr5:141250080-141258771 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030664
 protein coding gene Chr5:147634940-147646083 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027882
 protein coding gene Chr5:130413258-130421662 (-)
CAST/EiJ MGP_CASTEiJ_G0029338
 protein coding gene Chr5:140652277-140660906 (-)
CBA/J MGP_CBAJ_G0029898
 protein coding gene Chr5:153514115-153522796 (-)
DBA/2J MGP_DBA2J_G0030049
 protein coding gene Chr5:136070609-136080043 (-)
FVB/NJ MGP_FVBNJ_G0030004
 protein coding gene Chr5:135279188-135287869 (-)
LP/J MGP_LPJ_G0030138
 protein coding gene Chr5:142852107-142860923 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030036
 protein coding gene Chr5:156332482-156341166 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030705
 protein coding gene Chr5:140449583-140458234 (-)
PWK/PhJ MGP_PWKPhJ_G0029051
 protein coding gene Chr5:135162122-135171051 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028887
 protein coding gene Chr5:138007649-138018858 (-)
WSB/EiJ MGP_WSBEiJ_G0029411
 protein coding gene Chr5:141180359-141189156 (-)



Homology
more
  • Human Ortholog
    PCOLCE, procollagen C-endopeptidase enhancer
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCOLCE, procollagen C-endopeptidase enhancer
  • Synonyms
    PCPE, PCPE1, PCPE-1
  • Links
    NCBI Gene ID: 5118
    neXtProt AC: NX_Q15113
    UniProt: Q15113

  • Chr Location
    7q22.1; chr7:100602363-100608175 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    13 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.
Homozygous mutation of this gene results in thickened cortical and trabecular bone and abnormal collagen fibrils in both mineralized and nonmineralized tissues.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    7
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
non-membrane-bounded 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
    728
  • Tissues
    22
  • cDNA Data
    143
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18542 NCBI Gene Model | MGI Sequence Detail 6298 C57BL/6J ±  kb
    transcript NM_008788 RefSeq | MGI Sequence Detail 1539 ZRU/MplStud  
    polypeptide Q61398 UniProt | EBI | MGI Sequence Detail 468 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 144
      cDNA 143
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1436, MGD-MRK-1439, MGD-MRK-32139, MGI:88092
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 7
      Gene Ontology 7
      Phenotypes 13
    • Earliest
      J:10879 Rhyner TA, et al., Isolation of cDNAs from a mouse astroglial cell line by a subtracted cDNA library. J Neurosci Res. 1990 Oct;27(2):144-52
    • Latest
      J:322533 Sansilvestri Morel P, et al., Procollagen C-Proteinase Enhancer-1 (PCPE-1) deficiency in mice reduces liver fibrosis but not NASH progression. PLoS One. 2022;17(2):e0263828
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory