ENSMUSG00000031299


Mus musculus

Features
Gene ID: ENSMUSG00000031299
  
Biological name :Pdha1
  
Synonyms : P35486 / Pdha1 / pyruvate dehydrogenase E1 alpha 1
  
Possible biological names infered from orthology : P08559 / pyruvate dehydrogenase E1 alpha 1 subunit
  
Species: Mus musculus
  
Chr. number: X
Strand: -1
Band: F4
Gene start: 160122209
Gene end: 160138413
  
Corresponding Affymetrix probe sets: 10607587 (MoGene1.0st)   1418560_at (Mouse Genome 430 2.0 Array)   1449137_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000033662
NCBI entrez gene - 18597     See in Manteia.
MGI - MGI:97532
RefSeq - NM_008810
RefSeq Peptide - NP_032836
swissprot - P35486
swissprot - Q3UFJ3
Ensembl - ENSMUSG00000031299
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pdha1aENSDARG00000012387Danio rerio
 pdha1bENSDARG00000010555Danio rerio
 PDHA1ENSGALG00000016430Gallus gallus
 PDHA1ENSG00000131828Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pdha2 / P35487 / Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial / P29803* / pyruvate dehydrogenase E1 alpha 2 subunit*ENSMUSG0000004767476
Bckdha / branched chain ketoacid dehydrogenase E1, alpha polypeptide / P12694* / branched chain keto acid dehydrogenase E1, alpha polypeptide*ENSMUSG0000006037626


Protein motifs (from Interpro)
Interpro ID Name
 IPR001017  Dehydrogenase, E1 component
 IPR017597  Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y
 IPR029061  Thiamin diphosphate-binding fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006006 glucose metabolic process IEA
 biological_processGO:0006086 acetyl-CoA biosynthetic process from pyruvate ISO
 biological_processGO:0006099 tricarboxylic acid cycle ISO
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0061732 mitochondrial acetyl-CoA biosynthetic process from pyruvate IMP
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0045254 pyruvate dehydrogenase complex IEA
 molecular_functionGO:0004738 pyruvate dehydrogenase activity IEA
 molecular_functionGO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor IEA
 molecular_functionGO:0034604 pyruvate dehydrogenase (NAD+) activity IMP


Pathways (from Reactome)
Pathway description
Regulation of pyruvate dehydrogenase (PDH) complex
Glyoxylate metabolism and glycine degradation
Signaling by Retinoic Acid
Pyruvate metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000781 reduced size of corpus callosum "smaller commissural plate interconnecting the cortical hemispheres of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0000832 abnormal thalamus morphology "malformation or absence of the large ovoid mass of paired bodies containing mostly gray matter and forming part of the lateral wall of the third ventricle of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0000886 abnormal cerebellar granule layer "any malformation or absence of the innermost cortical layer of the cerebellum; contains densly packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0000889 abnormal cerebellar molecular layer "any malformation or absence of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0001125 abnormal oocytes "anomalous structure of immature ova" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Pdha1tm1Ptl/Pdha1+,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Myf5tm3(cre)Sor/Myf5+,Ntf3tm2Jae/Ntf3tm2Jae
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Pdha1tm1.1Ptl/Y
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0002079 increased circulating insulin level "greater than normal levels of insulin in blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Pdha1tm1Ptl/Pdha1+,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0002833 increased heart weight "greater than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Pdha1tm1Ptl/Pdha1+,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0003921 abnormal left ventricle morphology "structural anomaly of the left lower chamber of the heart " [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Pdha1tm1Ptl/Pdha1+,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Myf5tm3(cre)Sor/Myf5+,Ntf3tm2Jae/Ntf3tm2Jae
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Pdha1tm1.1Ptl/Y
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0004079 abnormal putamen morphology "malformation of the lens-shaped basal ganglion involved with control of voluntary movement in the brain" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0004564 enlarged myocardial fiber "increased size of cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Pdha1tm1Ptl/Pdha1+,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Pdha1tm1Ptl/Pdha1+,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0005168 abnormal female meiosis "malfunction in the process of nuclear division that results in ova with one half the normal chromosome number of the original cell" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0005237 abnormal olfactory tract morphology "structural anomaly of the nervelike, white band composed primarily of nerve fibers originating from the mitral cells and tufted cells of the olfactory bulb, but also containing the scattered cells of the anterior olfactory nucleus " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34460]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0008026 abnormal brain white matter morphology "any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0008547 abnormal neocortex morphology "any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.186.211.730.885.213.420]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0008931 abnormal paraventricular thalamic nucleus morphology 
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0009761 abnormal meiotic spindle "an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during meiosis" [ISBN:8185198691 "Rieger R et al Eds Glossary of Genetics Classical and Molecular"]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0009969 abnormal cerebral cortex pyramidal cell morphology "any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0009976 abnormal cerebellar peduncle morphology "any structural anomaly of any of the three large paired bundles of nerve fibers that connect the cerebellum to the brain stem" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0009979 abnormal cerebellum deep nucleus morphology "any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei" [http://www.spiritus-temporis.com/cerebellum/anatomy.html]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Myf5tm3(cre)Sor/Myf5+,Ntf3tm2Jae/Ntf3tm2Jae
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Pdha1tm1.1Ptl/Y
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0012736 abnormal polar body morphology "any structural anomaly of one of the small cells that are produced during the development of an oocyte and ultimately degenerate; a polar body contains one of the nuclei derived from the first or second meiotic division but little or no cytoplasm" [MGI:anna]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0020554 decreased stria medullaris size "decrease in the size of the stria medullaris" [MGI:smb]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000006494 Pdk1 / Q8BFP9 / [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial / Q15118* / pyruvate dehydrogenase kinase 1*  / reaction
 ENSMUSG00000019577 Pdk4 / O70571 / pyruvate dehydrogenase kinase, isoenzyme 4 / Q16654* / pyruvate dehydrogenase kinase 4*  / reaction
 ENSMUSG00000020664 Dld / O08749 / Dihydrolipoyl dehydrogenase, mitochondrial / P09622* / dihydrolipoamide dehydrogenase*  / complex
 ENSMUSG00000010914 Pdhx / Q8BKZ9 / Pyruvate dehydrogenase protein X component, mitochondrial / O00330* / pyruvate dehydrogenase complex component X*  / complex
 ENSMUSG00000034424 Gcsh / Q91WK5 / Glycine cleavage system H protein, mitochondrial / P23434* / AC092718.3* / AC092718.8* / glycine cleavage system protein H*  / reaction
 ENSMUSG00000000168 Dlat / Q8BMF4 / Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial / P10515* / dihydrolipoamide S-acetyltransferase*  / complex
 ENSMUSG00000047674 Pdha2 / P35487 / Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial / P29803* / pyruvate dehydrogenase E1 alpha 2 subunit*  / complex
 ENSMUSG00000021748 Pdhb / Q9D051 / Pyruvate dehydrogenase E1 component subunit beta, mitochondrial / P11177* / pyruvate dehydrogenase E1 beta subunit*  / complex
 ENSMUSG00000031299 Pdha1 / P35486 / pyruvate dehydrogenase E1 alpha 1 / P08559* / pyruvate dehydrogenase E1 alpha 1 subunit*  / complex
 ENSMUSG00000038967 Pdk2 / Q9JK42 / [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial / Q15119* / pyruvate dehydrogenase kinase 2*  / reaction
 ENSMUSG00000035232 Pdk3 / Q922H2 / pyruvate dehydrogenase kinase, isoenzyme 3 / Q15120* / pyruvate dehydrogenase kinase 3*  / reaction






 

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