Details Currently Unavailable
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AI-Generated Summary
Disclaimer: This summary is AI-generated based on limited data and may be speculative or contain inaccuracies. Detailed expression analysis for this entry is unavailable.
Raw Database JSON for Gene ID: 5161
{
"geneID": 5161,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AC093828.3"
]
},
"genePos": {
"start": 95840093,
"end": 95841464
},
"orientation": true,
"symbol": "PDHA2",
"created": {
"$date": {
"$numberLong": "1738333349058"
}
},
"crossReference": {
"enseGeneID": "ENSG00000163114",
"enseRnaID": [
"ENST00000295266.6"
],
"enseProtID": [
"ENSP00000295266.4"
]
},
"chrom": {
"pos": "4",
"type": 1,
"loc": "4q22.3"
},
"desc": "pyruvate dehydrogenase E1 subunit alpha 2",
"geneType": 5,
"mim": [
{
"id": 179061,
"relation": 0
}
],
"ontology": [
{
"id": "R-HSA-1430728",
"term": "Metabolism",
"cat": 10
},
{
"id": "R-HSA-162582",
"term": "Signal Transduction",
"cat": 10
},
{
"id": "R-HSA-1428517",
"term": "Aerobic respiration and respiratory electron transport",
"cat": 11
},
{
"id": "R-HSA-9006931",
"term": "Signaling by Nuclear Receptors",
"cat": 11
},
{
"id": "R-HSA-5362517",
"term": "Signaling by Retinoic Acid",
"cat": 12
},
{
"id": "R-HSA-70268",
"term": "Pyruvate metabolism",
"cat": 12
},
{
"id": "R-HSA-9861559",
"term": "PDH complex synthesizes acetyl-CoA from PYR",
"cat": 13
},
{
"id": "R-HSA-9861718",
"term": "Regulation of pyruvate metabolism",
"cat": 13
},
{
"id": "R-HSA-204174",
"term": "Regulation of pyruvate dehydrogenase (PDH) complex",
"cat": 14
},
{
"id": "GO:0004739",
"term": "pyruvate dehydrogenase (acetyl-transferring) activity",
"cat": 0
},
{
"id": "GO:0004739",
"term": "pyruvate dehydrogenase (acetyl-transferring) activity",
"pubMed": [
16436377
],
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
32296183
],
"cat": 0
},
{
"id": "GO:0034604",
"term": "pyruvate dehydrogenase (NAD+) activity",
"pubMed": [
16436377
],
"cat": 0
},
{
"id": "GO:0046872",
"term": "metal ion binding",
"cat": 0
},
{
"id": "GO:0006006",
"term": "glucose metabolic process",
"cat": 1
},
{
"id": "GO:0006086",
"term": "acetyl-CoA biosynthetic process from pyruvate",
"cat": 1
},
{
"id": "GO:0006086",
"term": "acetyl-CoA biosynthetic process from pyruvate",
"pubMed": [
16436377
],
"cat": 1
},
{
"id": "GO:0006090",
"term": "pyruvate metabolic process",
"pubMed": [
16436377
],
"cat": 1
},
{
"id": "GO:0006099",
"term": "tricarboxylic acid cycle",
"cat": 1
},
{
"id": "GO:0005634",
"term": "nucleus",
"pubMed": [
21630459
],
"cat": 2
},
{
"id": "GO:0005730",
"term": "nucleolus",
"cat": 2
},
{
"id": "GO:0005739",
"term": "mitochondrion",
"pubMed": [
34800366
],
"cat": 2
},
{
"id": "GO:0005739",
"term": "mitochondrion",
"cat": 2
},
{
"id": "GO:0005739",
"term": "mitochondrion",
"pubMed": [
24534072
],
"cat": 2
},
{
"id": "GO:0005759",
"term": "mitochondrial matrix",
"cat": 2
},
{
"id": "GO:0045254",
"term": "pyruvate dehydrogenase complex",
"cat": 2
}
],
"protein": [
{
"symbol": "ODPAT_HUMAN",
"name": "Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial",
"accession": [
"P29803",
"B2R9Q3",
"Q0VDI5",
"Q4VC02",
"Q6NXQ1"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"Rhea": [
"RHEA:19189",
"RHEA-COMP:10480",
"RHEA-COMP:10481"
],
"ChEBI": [
"CHEBI:15361",
"CHEBI:15378",
"CHEBI:16526",
"CHEBI:83099",
"CHEBI:83111",
"CHEBI:58937",
"CHEBI:18420",
"CHEBI:15361",
"CHEBI:15361",
"CHEBI:58937",
"CHEBI:15361",
"CHEBI:58937",
"CHEBI:15361",
"CHEBI:58937",
"CHEBI:15361",
"CHEBI:58937",
"CHEBI:18420",
"CHEBI:15361",
"CHEBI:58937",
"CHEBI:15361",
"CHEBI:58937",
"CHEBI:15361",
"CHEBI:58937",
"CHEBI:18420",
"CHEBI:15361",
"CHEBI:58937",
"CHEBI:18420",
"CHEBI:15361",
"CHEBI:58937"
],
"EC": [
"1.2.4.1",
"1.2.4.1"
],
"MIM": [
"619828",
"179061",
"619828"
],
"EMBL": [
"M86808",
"AK313872",
"BC030697",
"BC066953",
"BC094760",
"BC119656",
"BC119657",
"BC127637",
"BC127638"
],
"CCDS": [
"CCDS3644.1"
],
"PIR": [
"A37104"
],
"RefSeq": [
"NP_005381.1"
],
"AlphaFoldDB": [
"P29803"
],
"SMR": [
"P29803"
],
"BioGRID": [
"111187"
],
"ComplexPortal": [
"CPX-6242"
],
"IntAct": [
"P29803"
],
"MINT": [
"P29803"
],
"STRING": [
"9606.ENSP00000295266"
],
"DrugBank": [
"DB00157"
],
"iPTMnet": [
"P29803"
],
"PhosphoSitePlus": [
"P29803"
],
"BioMuta": [
"PDHA2"
],
"jPOST": [
"P29803"
],
"MassIVE": [
"P29803"
],
"PaxDb": [
"9606-ENSP00000295266"
],
"PeptideAtlas": [
"P29803"
],
"ProteomicsDB": [
"54610"
],
"Antibodypedia": [
"25781"
],
"DNASU": [
"5161"
],
"Ensembl": [
"ENST00000295266.6"
],
"KEGG": [
"hsa:5161"
],
"MANE-Select": [
"ENST00000295266.6"
],
"UCSC": [
"uc003htr.5"
],
"AGR": [
"HGNC:8807"
],
"CTD": [
"5161"
],
"DisGeNET": [
"5161"
],
"GeneCards": [
"PDHA2"
],
"HGNC": [
"HGNC:8807"
],
"HPA": [
"ENSG00000163114"
],
"MalaCards": [
"PDHA2"
],
"neXtProt": [
"NX_P29803"
],
"OpenTargets": [
"ENSG00000163114"
],
"Orphanet": [
"399805"
],
"PharmGKB": [
"PA33151"
],
"VEuPathDB": [
"HostDB:ENSG00000163114"
],
"eggNOG": [
"KOG0225"
],
"GeneTree": [
"ENSGT00530000063174"
],
"HOGENOM": [
"CLU_029393_5_2_1"
],
"InParanoid": [
"P29803"
],
"OMA": [
"SKRDPIM"
],
"OrthoDB": [
"166915at2759"
],
"PhylomeDB": [
"P29803"
],
"TreeFam": [
"TF300742"
],
"PathwayCommons": [
"P29803"
],
"Reactome": [
"R-HSA-204174",
"R-HSA-5362517",
"R-HSA-9861559"
],
"SignaLink": [
"P29803"
],
"SIGNOR": [
"P29803"
],
"BioGRID-ORCS": [
"5161"
],
"ChiTaRS": [
"PDHA2"
],
"GeneWiki": [
"Pyruvate_dehydrogenase_(lipoamide)_alpha_2"
],
"GenomeRNAi": [
"5161"
],
"Pharos": [
"P29803"
],
"PRO": [
"PR:P29803"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"P29803"
],
"Bgee": [
"ENSG00000163114"
],
"GO": [
"GO:0005759",
"GO:0005739",
"GO:0005730",
"GO:0005634",
"GO:0045254",
"GO:0004739",
"GO:0034604",
"GO:0006086",
"GO:0006006",
"GO:0006090",
"GO:0006099"
],
"CDD": [
"cd02000"
],
"Gene3D": [
"3.40.50.970"
],
"InterPro": [
"IPR001017",
"IPR050642",
"IPR017597",
"IPR029061"
],
"NCBIfam": [
"TIGR03182"
],
"PANTHER": [
"PTHR11516:SF27",
"PTHR11516"
],
"Pfam": [
"PF00676"
],
"SUPFAM": [
"SSF52518"
]
},
"citations": [
{
"title": "A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4.",
"pubmedID": "2249846",
"doi": "10.1016/0888-7543(90)90275-y"
},
{
"title": "Complete sequencing and characterization of 21,243 full-length human cDNAs.",
"pubmedID": "14702039",
"doi": "10.1038/ng1285"
},
{
"title": "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).",
"pubmedID": "15489334",
"doi": "10.1101/gr.2596504"
},
{
"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.",
"pubmedID": "14638692",
"doi": "10.1074/jbc.m308172200"
},
{
"title": "Characterization of testis-specific isoenzyme of human pyruvate dehydrogenase.",
"pubmedID": "16436377",
"doi": "10.1074/jbc.m511481200"
},
{
"title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.",
"pubmedID": "21406692",
"doi": "10.1126/scisignal.2001570"
},
{
"title": "Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1alpha subunit genes in human spermatogenesis.",
"pubmedID": "22750801",
"doi": "10.1016/j.gene.2012.06.068"
},
{
"title": "Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.",
"pubmedID": "29581481",
"doi": "10.1038/s41431-018-0121-7"
},
{
"title": "Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.",
"pubmedID": "31536960",
"doi": "10.1016/j.isci.2019.08.057"
},
{
"title": "Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.",
"pubmedID": "35172124",
"doi": "10.1016/j.ajhg.2022.01.011"
}
],
"sequence": {
"length": 388,
"mass": 42933,
"checksum": "075B6CFF6DC73CC5",
"modified": {
"$date": {
"$numberLong": "733622400000"
}
},
"version": 1,
"sequence": "MLAAFISRVLRRVAQKSARRVLVASRNSSNDATFEIKKCDLYLLEEGPPVTTVLTRAEGLKYYRMMLTVRRMELKADQLYKQKFIRGFCHLCDGQEACCVGLEAGINPSDHVITSYRAHGVCYTRGLSVRSILAELTGRRGGCAKGKGGSMHMYTKNFYGGNGIVGAQGPLGAGIALACKYKGNDEICLTLYGDGAANQGQIAEAFNMAALWKLPCVFICENNLYGMGTSTERAAASPDYYKRGNFIPGLKVDGMDVLCVREATKFAANYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKRDPIIILQDRMVNSKLATVEELKEIGAEVRKEIDDAAQFATTDPEPHLEELGHHIYSSDSSFEVRGANPWIKFKSVS"
},
"existence": 0,
"relevance": 1,
"proteinID": 1546917137
}
],
"singleCellExpressions": {
"cellSignificanceIndex": []
}
}