| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 5160 |
Name | PDHA1 |
Synonym | PDHA|PDHCE1A|PHE1A;pyruvate dehydrogenase (lipoamide) alpha 1;PDHA1;pyruvate dehydrogenase (lipoamide) alpha 1 |
Definition | PDHE1-A type I|pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial|pyruvate dehydrogenase complex, E1-alpha polypeptide 1 |
Position | Xp22.1 |
Gene Type | protein-coding |
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PAH Type |
Description |
PAH | Pyruvate dehydrogenase inhibition by the inflammatory cytokine TNF? contributes to the pathogenesis of pulmonary arterial hypertension. |
| More detail of all Human literatures about PDHA1 | |
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Pathways and Diseases |
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Pathway | Pyruvate metabolism and Citric Acid (TCA) cycle;Reactome;REACT:1046 |
Pathway | Valine, leucine and isoleucine biosynthesis;KEGG PATHWAY;hsa00290 |
Pathway | Citrate cycle (TCA cycle);KEGG PATHWAY;hsa00020 |
Pathway | acetyl-CoA biosynthesis (from pyruvate);BioCyc;PYRUVDEHYD-PWY |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | Butanoate metabolism;KEGG PATHWAY;hsa00650 |
Pathway | Pyruvate metabolism;KEGG PATHWAY;hsa00620 |
Pathway | Glycolysis / Gluconeogenesis;KEGG PATHWAY;hsa00010 |
Disease | Pyruvate dehydrogenase complex deficiency;KEGG DISEASE;H00072 |
Disease | Inherited disorders of carbohydrate metabolism;KEGG DISEASE |
Disease | Pyruvate dehydrogenase deficiency;OMIM |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Leigh syndrome, X-linked;OMIM |
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External Links |
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Links to Entrez Gene | 5160 |
Links to all GeneRIF Items | 5160 |
Links to iHOP | 5160 |
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Sequence Information |
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Nucleotide Sequence |
>5160 : length: 1173 atgaggaagatgctcgccgccgtctcccgcgtgctgtctggcgcttctcagaagccggca agcagagtgctggtagcatcccgtaattttgcaaatgatgctacatttgaaattaagaaa tgtgaccttcaccggctggaagaaggccctcctgtcacaacagtgctcaccagggaggat gggctcaaatactacaggatgatgcagactgtacgccgaatggagttgaaagcagatcag ctgtataaacagaaaattattcgtggtttctgtcacttgtgtgatggtcaggaagcttgc tgtgtgggcctggaggccggcatcaaccccacagaccatctcatcacagcctaccgggct cacggctttactttcacccggggcctttccgtccgagaaattctcgcagagcttacagga cgaaaaggaggttgtgctaaagggaaaggaggatcgatgcacatgtatgccaagaacttc tacgggggcaatggcatcgtgggagcgcaggtgcccctgggcgctgggattgctctagcc tgtaagtataatggaaaagatgaggtctgcctgactttatatggcgatggtgctgctaac cagggccagatattcgaagcttacaacatggcagctttgtggaaattaccttgtattttc atctgtgagaataatcgctatggaatgggaacgtctgttgagagagcggcagccagcact gattactacaagagaggcgatttcattcctgggctgagagtggatggaatggatatcctg tgcgtccgagaggcaacaaggtttgctgctgcctattgtagatctgggaaggggcccatc ctgatggagctgcagacttaccgttaccacggacacagtatgagtgaccctggagtcagt taccgtacacgagaagaaattcaggaagtaagaagtaagagtgaccctattatgcttctc aaggacaggatggtgaacagcaatcttgccagtgtggaagaactaaaggaaattgatgtg gaagtgaggaaggagattgaggatgctgcccagtttgccacggccgatcctgagccacct ttggaagagctgggctaccacatctactccagcgacccaccttttgaagttcgtggtgcc aatcagtggatcaagtttaagtcagtcagttaa |
Protein Sequence |
>5160 : length: 390 MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTRED GLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRA HGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALA CKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAAST DYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVS YRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPP LEELGYHIYSSDPPFEVRGANQWIKFKSVS |