No CSI details found for gene ID: 5161
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 1546917137
Symbol: ODPAT_HUMAN
Name: Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2249846
Title: A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4.
PubMed ID: 2249846
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
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: 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: 16436377
Title: Characterization of testis-specific isoenzyme of human pyruvate dehydrogenase.
PubMed ID: 16436377
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 22750801
Title: Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1alpha subunit genes in human spermatogenesis.
PubMed ID: 22750801
PubMed ID: 29581481
Title: Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
PubMed ID: 29581481
PubMed ID: 31536960
Title: Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.
PubMed ID: 31536960
PubMed ID: 35172124
Title: Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.
PubMed ID: 35172124
Sequence Information:
- Length: 388
- Mass: 42933
- Checksum: 075B6CFF6DC73CC5
- Sequence:
MLAAFISRVL RRVAQKSARR VLVASRNSSN DATFEIKKCD LYLLEEGPPV TTVLTRAEGL KYYRMMLTVR RMELKADQLY KQKFIRGFCH LCDGQEACCV GLEAGINPSD HVITSYRAHG VCYTRGLSVR SILAELTGRR GGCAKGKGGS MHMYTKNFYG GNGIVGAQGP LGAGIALACK YKGNDEICLT LYGDGAANQG QIAEAFNMAA LWKLPCVFIC ENNLYGMGTS TERAAASPDY YKRGNFIPGL KVDGMDVLCV REATKFAANY CRSGKGPILM ELQTYRYHGH SMSDPGVSYR TREEIQEVRS KRDPIIILQD RMVNSKLATV EELKEIGAEV RKEIDDAAQF ATTDPEPHLE ELGHHIYSSD SSFEVRGANP WIKFKSVS
Details Unavailable
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{
"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": []
}
}