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Ptcd1 Gene Detail
Summary
  • Symbol
    Ptcd1
  • Name
    pentatricopeptide repeat domain 1
  • Synonyms
    1110069M14Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919049
    NCBI Gene: 71799
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:145084324-145103918 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 85.06 cM, cytoband G2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    696 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919049
 protein coding gene Chr5:145084188-145103918 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030359
 protein coding gene Chr5:150572442-150593492 (-)
A/J MGP_AJ_G0030328
 protein coding gene Chr5:144104109-144124655 (-)
AKR/J MGP_AKRJ_G0030260
 protein coding gene Chr5:148587907-148609486 (-)
BALB/cJ MGP_BALBcJ_G0030345
 protein coding gene Chr5:145360198-145380734 (-)
C3H/HeJ MGP_C3HHeJ_G0030056
 protein coding gene Chr5:149406857-149428157 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030790
 protein coding gene Chr5:156068471-156088223 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028011
 protein coding gene Chr5:137842202-137859872 (-)
CAST/EiJ MGP_CASTEiJ_G0029461
 protein coding gene Chr5:148979290-149001535 (-)
CBA/J MGP_CBAJ_G0030026
 protein coding gene Chr5:162510340-162529481 (-)
DBA/2J MGP_DBA2J_G0030176
 protein coding gene Chr5:143819948-143841246 (-)
FVB/NJ MGP_FVBNJ_G0030131
 protein coding gene Chr5:143056847-143076639 (-)
LP/J MGP_LPJ_G0030265
 protein coding gene Chr5:151157028-151178773 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030162
 protein coding gene Chr5:164813516-164838474 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030830
 protein coding gene Chr5:148488032-148511764 (-)
PWK/PhJ MGP_PWKPhJ_G0029176
 protein coding gene Chr5:142970328-142990462 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029012
 protein coding gene Chr5:146235759-146257350 (-)
WSB/EiJ MGP_WSBEiJ_G0029536
 protein coding gene Chr5:149295898-149316732 (-)



Homology
more
  • Human Ortholog
    ATP5MF-PTCD1, ATP5MF-PTCD1 readthrough
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP5MF-PTCD1, ATP5MF-PTCD1 readthrough
  • Synonyms
    ATP5J2-PTCD1
  • Links
    NCBI Gene ID: 100526740

  • Chr Location
    7q22.1; chr7:99416739-99466197 (-)  GRCh38
  • Human Ortholog
    PTCD1, pentatricopeptide repeat domain 1
  • Links
    NCBI Gene ID: 26024
    neXtProt AC: NX_O75127
    UniProt: O75127

  • Chr Location
    7q22.1; chr7:99416739-99466163 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 1 allele in 1 genetic background
    7 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.
Knockout affects mitochondrial protein synthesis and RNA metabolism. Homozygous KO is embryonic lethal. Heterozygous KO causes adult onset obesity, liver fibrosis and cardiac hypertrophy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    5
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
    15
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029624 Ensembl Gene Model | MGI Sequence Detail 19595 C57BL/6J ±  kb
    transcript ENSMUST00000031628 Ensembl | MGI Sequence Detail 3087 Not Applicable  
    polypeptide ENSMUSP00000031628 Ensembl | MGI Sequence Detail 695 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 15
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 29
      Developmental Gene Expression 1
      Gene Ontology 5
      Phenotypes 7
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:342327 Richman TR, et al., Mitochondrial gene expression is required for platelet function and blood clotting. Cell Rep. 2023 Oct 25;42(11):113312
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory