Details for: PDHA1
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 176.0260
Cell Significance Index: -27.3800 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 116.1867
Cell Significance Index: -29.4700 - Cell Name: embryonic stem cell (CL0002322)
Fold Change: 97.0512
Cell Significance Index: -39.9800 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 86.7995
Cell Significance Index: -40.9800 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 86.0170
Cell Significance Index: -34.9500 - Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 77.4614
Cell Significance Index: -39.8500 - Cell Name: ileal goblet cell (CL1000326)
Fold Change: 61.2051
Cell Significance Index: -41.0700 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 36.9209
Cell Significance Index: -35.2500 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 30.0822
Cell Significance Index: -37.0900 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 12.1264
Cell Significance Index: -32.4900 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 9.9644
Cell Significance Index: -39.3200 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 8.9632
Cell Significance Index: -27.5300 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 2.9035
Cell Significance Index: 174.3100 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.6750
Cell Significance Index: 75.9200 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 1.6119
Cell Significance Index: 262.1600 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 1.5663
Cell Significance Index: 73.0300 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 1.5067
Cell Significance Index: 41.0100 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1.3889
Cell Significance Index: 18.9500 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 1.1181
Cell Significance Index: 70.4700 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.9124
Cell Significance Index: 164.4900 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.9098
Cell Significance Index: 47.2600 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.9046
Cell Significance Index: 63.9800 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.8918
Cell Significance Index: 109.6600 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.8647
Cell Significance Index: 23.1300 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.7367
Cell Significance Index: 147.7800 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: 0.7205
Cell Significance Index: 37.8300 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.6760
Cell Significance Index: 23.4900 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.6353
Cell Significance Index: 29.8600 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.6308
Cell Significance Index: 86.6200 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 0.6246
Cell Significance Index: 6.7900 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.6152
Cell Significance Index: 335.9600 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.6020
Cell Significance Index: 38.8400 - Cell Name: peg cell (CL4033014)
Fold Change: 0.5861
Cell Significance Index: 13.5400 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 0.5700
Cell Significance Index: 11.9300 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.5610
Cell Significance Index: 14.9800 - Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 0.5419
Cell Significance Index: 8.0000 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.5093
Cell Significance Index: 459.8900 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.5069
Cell Significance Index: 14.6100 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.5025
Cell Significance Index: 64.9300 - Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.4949
Cell Significance Index: 5.9000 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.4811
Cell Significance Index: 212.7300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.4479
Cell Significance Index: 34.3700 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.4006
Cell Significance Index: 12.8300 - Cell Name: granulosa cell (CL0000501)
Fold Change: 0.3704
Cell Significance Index: 9.7400 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.3612
Cell Significance Index: 71.6800 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.3340
Cell Significance Index: 63.5700 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.3106
Cell Significance Index: 39.8200 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.2836
Cell Significance Index: 101.7400 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.2829
Cell Significance Index: 33.3600 - Cell Name: kidney cell (CL1000497)
Fold Change: 0.2492
Cell Significance Index: 1.9900 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.1936
Cell Significance Index: 33.0600 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.1853
Cell Significance Index: 9.6500 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: 0.1706
Cell Significance Index: 125.0900 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.1556
Cell Significance Index: 11.6000 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.1270
Cell Significance Index: 3.5500 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.1177
Cell Significance Index: 81.3800 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0720
Cell Significance Index: 2.5300 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0418
Cell Significance Index: 0.8900 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0380
Cell Significance Index: 71.5200 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.0250
Cell Significance Index: 2.4800 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: 0.0093
Cell Significance Index: 0.7400 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0035
Cell Significance Index: 2.2500 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0037
Cell Significance Index: -6.8700 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0064
Cell Significance Index: -4.8600 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0074
Cell Significance Index: -4.5900 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0088
Cell Significance Index: -6.5000 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0104
Cell Significance Index: -16.0100 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0286
Cell Significance Index: -38.8200 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0362
Cell Significance Index: -16.4500 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0382
Cell Significance Index: -3.9000 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0421
Cell Significance Index: -23.7700 - Cell Name: seromucus secreting cell (CL0000159)
Fold Change: -0.0619
Cell Significance Index: -1.2900 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0659
Cell Significance Index: -4.0500 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0864
Cell Significance Index: -18.1900 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1048
Cell Significance Index: -12.0100 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1153
Cell Significance Index: -33.1800 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.1206
Cell Significance Index: -14.0500 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.1386
Cell Significance Index: -20.1400 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: -0.1462
Cell Significance Index: -2.1900 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.1596
Cell Significance Index: -3.9900 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.1747
Cell Significance Index: -12.0800 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.1787
Cell Significance Index: -10.0300 - Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: -0.2096
Cell Significance Index: -1.9300 - Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: -0.2115
Cell Significance Index: -1.6300 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.2161
Cell Significance Index: -5.5200 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.2174
Cell Significance Index: -24.8200 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.2217
Cell Significance Index: -6.5100 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.2340
Cell Significance Index: -5.0700 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.3325
Cell Significance Index: -22.3600 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.3513
Cell Significance Index: -36.5800 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.3593
Cell Significance Index: -10.3000 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.3609
Cell Significance Index: -6.0400 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.4072
Cell Significance Index: -18.0100 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.4073
Cell Significance Index: -6.9800 - Cell Name: type I muscle cell (CL0002211)
Fold Change: -0.4543
Cell Significance Index: -11.0900 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.4670
Cell Significance Index: -17.6900 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.4998
Cell Significance Index: -30.6400 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.5469
Cell Significance Index: -14.6600 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.5765
Cell Significance Index: -14.8200 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.6086
Cell Significance Index: -6.3000
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 4228403840
Symbol: ODPA_HUMAN
Name: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2227443
Title: Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase alpha-subunit.
PubMed ID: 2227443
PubMed ID: 2748588
Title: Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit.
PubMed ID: 2748588
PubMed ID: 3034892
Title: The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.
PubMed ID: 3034892
PubMed ID: 2745444
Title: Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.
PubMed ID: 2745444
PubMed ID: 2828359
Title: Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex.
PubMed ID: 2828359
PubMed ID: 3422424
Title: Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase.
PubMed ID: 3422424
DOI: 10.1073/pnas.85.1.41
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15772651
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 23146587
Title: Experimental determination of organelle targeting-peptide cleavage sites using transient expression of green fluorescent protein translational fusions.
PubMed ID: 23146587
PubMed ID: 10077682
Title: X chromosome evidence for ancient human histories.
PubMed ID: 10077682
PubMed ID: 1338114
Title: Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.
PubMed ID: 1338114
DOI: 10.1007/bf01800220
PubMed ID: 7782287
Title: Mutagenesis studies of the phosphorylation sites of recombinant human pyruvate dehydrogenase. Site-specific regulation.
PubMed ID: 7782287
PubMed ID: 11486000
Title: Site specificity of four pyruvate dehydrogenase kinase isoenzymes toward the three phosphorylation sites of human pyruvate dehydrogenase.
PubMed ID: 11486000
PubMed ID: 14638692
Title: Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components.
PubMed ID: 14638692
PubMed ID: 17081983
Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
PubMed ID: 17081983
PubMed ID: 18088087
PubMed ID: 18691976
Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
PubMed ID: 18691976
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 19608861
Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.
PubMed ID: 19608861
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 12651851
Title: Structural basis for flip-flop action of thiamin pyrophosphate-dependent enzymes revealed by human pyruvate dehydrogenase.
PubMed ID: 12651851
PubMed ID: 17474719
Title: Phosphorylation of serine 264 impedes active site accessibility in the E1 component of the human pyruvate dehydrogenase multienzyme complex.
PubMed ID: 17474719
DOI: 10.1021/bi700083z
PubMed ID: 19081061
Title: Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops.
PubMed ID: 19081061
PubMed ID: 29970614
Title: Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the alphaV138M variant of human pyruvate dehydrogenase.
PubMed ID: 29970614
PubMed ID: 1301207
Title: Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
PubMed ID: 1301207
PubMed ID: 1909401
Title: Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
PubMed ID: 1909401
DOI: 10.1007/bf01800586
PubMed ID: 1551669
Title: Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.
PubMed ID: 1551669
DOI: 10.1007/bf02265291
PubMed ID: 1293379
Title: X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation.
PubMed ID: 1293379
DOI: 10.1007/bf01800219
PubMed ID: 8498846
Title: Molecular genetic characterization of an X-linked form of Leigh's syndrome.
PubMed ID: 8498846
PubMed ID: 8504306
Title: Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
PubMed ID: 8504306
DOI: 10.1093/hmg/2.4.449
PubMed ID: 8032855
Title: Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
PubMed ID: 8032855
PubMed ID: 7545958
Title: Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.
PubMed ID: 7545958
DOI: 10.1093/hmg/3.6.1021
PubMed ID: 8199595
Title: Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.
PubMed ID: 8199595
PubMed ID: 7967473
Title: Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia.
PubMed ID: 7967473
DOI: 10.1007/bf00711616
PubMed ID: 7887409
Title: Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
PubMed ID: 7887409
PubMed ID: 7573035
Title: An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.
PubMed ID: 7573035
PubMed ID: 7757088
Title: Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
PubMed ID: 7757088
DOI: 10.1093/hmg/4.2.315
PubMed ID: 8664900
Title: Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
PubMed ID: 8664900
DOI: 10.1002/(sici)1098-1004(1996)7:1<46::aid-humu6>3.0.co;2-n
PubMed ID: 8844217
Title: Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS).
PubMed ID: 8844217
DOI: 10.1002/(sici)1098-1004(1996)8:2<180::aid-humu11>3.0.co;2-z
PubMed ID: 9266390
Title: Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
PubMed ID: 9266390
PubMed ID: 9671272
Title: Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
PubMed ID: 9671272
DOI: 10.1002/(sici)1098-1004(1998)12:2<114::aid-humu6>3.0.co;2-#
PubMed ID: 23033978
Title: Diagnostic exome sequencing in persons with severe intellectual disability.
PubMed ID: 23033978
PubMed ID: 27864847
Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
PubMed ID: 27864847
DOI: 10.1002/humu.23149
Sequence Information:
- Length: 390
- Mass: 43296
- Checksum: 4D685BBE44A92D4B
- Sequence:
MRKMLAAVSR VLSGASQKPA SRVLVASRNF ANDATFEIKK CDLHRLEEGP PVTTVLTRED GLKYYRMMQT VRRMELKADQ LYKQKIIRGF CHLCDGQEAC CVGLEAGINP TDHLITAYRA HGFTFTRGLS VREILAELTG RKGGCAKGKG GSMHMYAKNF YGGNGIVGAQ VPLGAGIALA CKYNGKDEVC LTLYGDGAAN QGQIFEAYNM AALWKLPCIF ICENNRYGMG TSVERAAAST DYYKRGDFIP GLRVDGMDIL CVREATRFAA AYCRSGKGPI LMELQTYRYH GHSMSDPGVS YRTREEIQEV RSKSDPIMLL KDRMVNSNLA SVEELKEIDV EVRKEIEDAA QFATADPEPP LEELGYHIYS SDPPFEVRGA NQWIKFKSVS
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.