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Pdha1 Gene Detail
Summary
  • Symbol
    Pdha1
  • Name
    pyruvate dehydrogenase E1 alpha 1
  • Synonyms
    Pdha-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97532
    NCBI Gene: 18597
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:158905205-158921409 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 73.95 cM, cytoband F3-F4
  • Mapping Data
    24 experiments
Strain
Comparison
more
  • SNPs within 2kb
    440 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97532
 protein coding gene ChrX:158905205-158921426 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036229
 protein coding gene ChrX:158038073-158054177 (-)
A/J MGP_AJ_G0036199
 protein coding gene ChrX:157320755-157336790 (-)
AKR/J MGP_AKRJ_G0036127
 protein coding gene ChrX:162312283-162328369 (-)
BALB/cJ MGP_BALBcJ_G0036192
 protein coding gene ChrX:155391841-155407988 (-)
C3H/HeJ MGP_C3HHeJ_G0035898
 protein coding gene ChrX:158445703-158461803 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036714
 protein coding gene ChrX:162740585-162757354 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033536
 protein coding gene ChrX:148576595-148592177 (-)
CAST/EiJ MGP_CASTEiJ_G0035187
 protein coding gene ChrX:137472418-137488525 (-)
CBA/J MGP_CBAJ_G0035873
 protein coding gene ChrX:167378592-167394721 (-)
DBA/2J MGP_DBA2J_G0036039
 protein coding gene ChrX:156292614-156309307 (-)
FVB/NJ MGP_FVBNJ_G0035970
 protein coding gene ChrX:155403348-155420098 (-)
LP/J MGP_LPJ_G0036124
 protein coding gene ChrX:159220368-159236422 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0036002
 protein coding gene ChrX:176074166-176090407 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036755
 protein coding gene ChrX:157590824-157611293 (-)
PWK/PhJ MGP_PWKPhJ_G0034885
 protein coding gene ChrX:134345880-134362051 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034706
 protein coding gene ChrX:137895218-137911179 (-)
WSB/EiJ MGP_WSBEiJ_G0035322
 protein coding gene ChrX:155553660-155569836 (-)



Homology
more
  • Human Ortholog
    PDHA1, pyruvate dehydrogenase E1 subunit alpha 1
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PDHA1, pyruvate dehydrogenase E1 subunit alpha 1
  • Synonyms
    E1alpha, PDHA, PDHAD, PDHCE1A, PHE1A
  • Links
    NCBI Gene ID: 5160
    neXtProt AC: NX_P08559
    UniProt: P08559

  • Chr Location
    Xp22.12; chrX:19343893-19361718 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PDHA1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 2 alleles in 4 genetic backgrounds
    37 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 die by E12.5.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    19
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
    890
  • Tissues
    159
  • cDNA Data
    336
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031299 Ensembl Gene Model | MGI Sequence Detail 16205 C57BL/6J ±  kb
    transcript ENSMUST00000033662 Ensembl | MGI Sequence Detail 2848 Not Applicable  
    polypeptide ENSMUSP00000033662 Ensembl | MGI Sequence Detail 390 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000012493 pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
      (term hierarchy)
    • EC
      1.2.4.1
    • InterPro Domains
      IPR001017 Dehydrogenase, E1 component
      IPR017597 Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y
      IPR050642 Pyruvate Dehydrogenase E1 Alpha Subunit
      IPR029061 Thiamin diphosphate-binding fold
    • GlyGen
      P35486 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 345
      Genomic 1
      cDNA 337
      Primer pair 6
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13218, MGD-MRK-13219
    References
    more
    • Summaries
      All 106
      Developmental Gene Expression 15
      Gene Ontology 19
      Phenotypes 37
    • Earliest
      J:10821 Brown RM, et al., Pyruvate dehydrogenase E1 alpha subunit genes in the mouse: mapping and comparison with human homologs. Somat Cell Mol Genet. 1990 Sep;16(5):487-92
    • Latest
      J:353602 Li H, et al., Pyruvate dehydrogenase complex E1 subunit alpha crotonylation modulates cocaine-associated memory through hippocampal neuron activation. Cell Rep. 2024 Aug 27;43(8):114529
    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