Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5160
Gene name	Pyruvate dehydrogenase E1 subunit alpha 1
Gene symbol	PDHA1
Synonyms (NCBI Gene)	E1alphaPDHAPDHADPDHCE1APHE1A
Chromosome	X
Chromosome location	Xp22.12
Summary	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cy

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2229137	A>C	Pathogenic, benign	Coding sequence variant, missense variant
rs121917898	A>C	Pathogenic	Coding sequence variant, missense variant
rs137853251	AGA>-,AGAAAGA	Pathogenic	Coding sequence variant, frameshift variant, inframe deletion
rs137853252	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853253	A>C	Pathogenic	Coding sequence variant, missense variant
rs137853254	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs137853255	T>A	Pathogenic	Coding sequence variant, missense variant
rs137853256	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853257	G>C	Pathogenic	Coding sequence variant, missense variant
rs137853258	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853259	C>G	Pathogenic	Coding sequence variant, missense variant
rs138727886	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs141862527	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs398123300	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs606231185	AGTAAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231188	->TAGTTACCGTACACGAGAAGA	Pathogenic	Splice acceptor variant, intron variant, coding sequence variant
rs606231190	->T	Pathogenic	Frameshift variant, coding sequence variant
rs757654963	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs794727621	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs794729213	G>A	Pathogenic	Missense variant, coding sequence variant
rs863224145	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs863224148	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs863224149	G>A	Pathogenic	Synonymous variant, splice acceptor variant, coding sequence variant
rs863224150	C>T	Pathogenic	Missense variant, coding sequence variant
rs863224153	TAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224155	GTACAGTCACTTGTTCATGGTGGTTTG>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs863224157	->CTTGCCAGTGTGGA	Pathogenic	Frameshift variant, coding sequence variant
rs886039690	G>T	Pathogenic	Splice acceptor variant
rs886041793	->G	Pathogenic	Frameshift variant, coding sequence variant
rs886042089	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518173	->TCAGGAAGTAAG	Pathogenic	Coding sequence variant, inframe insertion
rs1057518702	A>G	Pathogenic	Splice acceptor variant, intron variant
rs1057521993	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523018	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793225	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794149	G>A	Pathogenic	Missense variant, coding sequence variant
rs1131691792	C>T	Pathogenic	Missense variant, coding sequence variant
rs1131691952	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692230	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1157736285	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1272572107	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1555933643	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555933663	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555933954	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555933963	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555934165	T>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1555934376	A>C	Pathogenic	Missense variant, coding sequence variant
rs1555934379	C>T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant
rs1555934383	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555934843	G>A	Pathogenic	Splice acceptor variant
rs1555934859	->TTAC	Pathogenic	Frameshift variant, coding sequence variant
rs1555935197	A>G	Pathogenic	Splice acceptor variant
rs1555935216	TAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555935223	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1555935473	->AGAT	Pathogenic	Frameshift variant, coding sequence variant
rs1569189834	G>A	Pathogenic	Splice acceptor variant
rs1569190079	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569190422	->CT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569190962	A>G	Pathogenic	Coding sequence variant, missense variant
rs1569191372	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1569191659	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1569191879	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569194036	GAGGAAGGAGATTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602227631	->AGCCAGCACTGATTACTACAAGAGAGGC	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1602227643	->TACT	Pathogenic	Coding sequence variant, frameshift variant
rs1602227679	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602228017	->ATCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1602231539	->AGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAG	Pathogenic	Coding sequence variant, inframe indel, stop gained

284

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030647	hsa-miR-22-3p	Sequencing	20371350
MIRT045791	hsa-miR-191-5p	CLASH	23622248
MIRT043636	hsa-miR-326	CLASH	23622248
MIRT038319	hsa-miR-130b-5p	CLASH	23622248
MIRT037151	hsa-miR-877-3p	CLASH	23622248
MIRT443198	hsa-miR-320e	PAR-CLIP	22100165
MIRT443196	hsa-miR-4761-5p	PAR-CLIP	22100165
MIRT443195	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT443194	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT443193	hsa-miR-3148	PAR-CLIP	22100165
MIRT443192	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT443191	hsa-miR-3153	PAR-CLIP	22100165
MIRT443190	hsa-miR-6733-5p	PAR-CLIP	22100165
MIRT443188	hsa-miR-6739-5p	PAR-CLIP	22100165
MIRT443189	hsa-miR-498	PAR-CLIP	22100165
MIRT443198	hsa-miR-320e	PAR-CLIP	22100165
MIRT443196	hsa-miR-4761-5p	PAR-CLIP	22100165
MIRT443195	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT443194	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT443193	hsa-miR-3148	PAR-CLIP	22100165
MIRT443192	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT443191	hsa-miR-3153	PAR-CLIP	22100165
MIRT443190	hsa-miR-6733-5p	PAR-CLIP	22100165
MIRT443188	hsa-miR-6739-5p	PAR-CLIP	22100165
MIRT443189	hsa-miR-498	PAR-CLIP	22100165
MIRT1221284	hsa-miR-1225-3p	CLIP-seq
MIRT1221285	hsa-miR-1228	CLIP-seq
MIRT1221286	hsa-miR-1231	CLIP-seq
MIRT1221287	hsa-miR-1233	CLIP-seq
MIRT1221288	hsa-miR-1273e	CLIP-seq
MIRT1221289	hsa-miR-1285	CLIP-seq
MIRT1221290	hsa-miR-1323	CLIP-seq
MIRT1221291	hsa-miR-141	CLIP-seq
MIRT1221292	hsa-miR-146a	CLIP-seq
MIRT1221293	hsa-miR-146b-5p	CLIP-seq
MIRT1221294	hsa-miR-200a	CLIP-seq
MIRT1221295	hsa-miR-217	CLIP-seq
MIRT1221296	hsa-miR-3120-5p	CLIP-seq
MIRT1221297	hsa-miR-3136-5p	CLIP-seq
MIRT1221298	hsa-miR-3187-5p	CLIP-seq
MIRT1221299	hsa-miR-329	CLIP-seq
MIRT1221300	hsa-miR-362-3p	CLIP-seq
MIRT1221301	hsa-miR-3689a-3p	CLIP-seq
MIRT1221302	hsa-miR-3689c	CLIP-seq
MIRT1221303	hsa-miR-3689d	CLIP-seq
MIRT1221304	hsa-miR-371b-5p	CLIP-seq
MIRT1221305	hsa-miR-3911	CLIP-seq
MIRT1221306	hsa-miR-3941	CLIP-seq
MIRT1221307	hsa-miR-3943	CLIP-seq
MIRT1221308	hsa-miR-4275	CLIP-seq
MIRT1221309	hsa-miR-4313	CLIP-seq
MIRT1221310	hsa-miR-4323	CLIP-seq
MIRT1221311	hsa-miR-4439	CLIP-seq
MIRT1221312	hsa-miR-4459	CLIP-seq
MIRT1221313	hsa-miR-4490	CLIP-seq
MIRT1221314	hsa-miR-4659a-3p	CLIP-seq
MIRT1221315	hsa-miR-4659b-3p	CLIP-seq
MIRT1221316	hsa-miR-4691-5p	CLIP-seq
MIRT1221317	hsa-miR-4728-5p	CLIP-seq
MIRT1221318	hsa-miR-4774-5p	CLIP-seq
MIRT1221319	hsa-miR-4793-3p	CLIP-seq
MIRT1221320	hsa-miR-493	CLIP-seq
MIRT1221321	hsa-miR-508-5p	CLIP-seq
MIRT1221322	hsa-miR-548o	CLIP-seq
MIRT1221323	hsa-miR-580	CLIP-seq
MIRT1221324	hsa-miR-589	CLIP-seq
MIRT1221325	hsa-miR-603	CLIP-seq
MIRT1221326	hsa-miR-612	CLIP-seq
MIRT1221327	hsa-miR-629	CLIP-seq
MIRT1221328	hsa-miR-661	CLIP-seq
MIRT1221329	hsa-miR-665	CLIP-seq
MIRT1221330	hsa-miR-766	CLIP-seq
MIRT1221331	hsa-miR-767-3p	CLIP-seq
MIRT1221332	hsa-miR-943	CLIP-seq
MIRT1221333	hsa-miR-1294	CLIP-seq
MIRT1221334	hsa-miR-296-5p	CLIP-seq
MIRT1221335	hsa-miR-3184	CLIP-seq
MIRT1221336	hsa-miR-3688-5p	CLIP-seq
MIRT1221337	hsa-miR-423-5p	CLIP-seq
MIRT1221338	hsa-miR-4258	CLIP-seq
MIRT1221339	hsa-miR-4316	CLIP-seq
MIRT1221340	hsa-miR-4677-3p	CLIP-seq
MIRT1221286	hsa-miR-1231	CLIP-seq
MIRT1221291	hsa-miR-141	CLIP-seq
MIRT1221292	hsa-miR-146a	CLIP-seq
MIRT1221293	hsa-miR-146b-5p	CLIP-seq
MIRT1221294	hsa-miR-200a	CLIP-seq
MIRT1221341	hsa-miR-224	CLIP-seq
MIRT1221296	hsa-miR-3120-5p	CLIP-seq
MIRT1221342	hsa-miR-3150a-5p	CLIP-seq
MIRT1221343	hsa-miR-3150b-5p	CLIP-seq
MIRT1221344	hsa-miR-3613-3p	CLIP-seq
MIRT1221307	hsa-miR-3943	CLIP-seq
MIRT1221309	hsa-miR-4313	CLIP-seq
MIRT1221310	hsa-miR-4323	CLIP-seq
MIRT1221313	hsa-miR-4490	CLIP-seq
MIRT1221345	hsa-miR-4503	CLIP-seq
MIRT1221314	hsa-miR-4659a-3p	CLIP-seq
MIRT1221315	hsa-miR-4659b-3p	CLIP-seq
MIRT1221316	hsa-miR-4691-5p	CLIP-seq
MIRT1221346	hsa-miR-4760-3p	CLIP-seq
MIRT1221318	hsa-miR-4774-5p	CLIP-seq
MIRT1221320	hsa-miR-493	CLIP-seq
MIRT1221323	hsa-miR-580	CLIP-seq
MIRT1221324	hsa-miR-589	CLIP-seq
MIRT1221297	hsa-miR-3136-5p	CLIP-seq
MIRT1221311	hsa-miR-4439	CLIP-seq
MIRT1221332	hsa-miR-943	CLIP-seq
MIRT2292331	hsa-miR-1	CLIP-seq
MIRT2292332	hsa-miR-1205	CLIP-seq
MIRT2292333	hsa-miR-1207-5p	CLIP-seq
MIRT1221284	hsa-miR-1225-3p	CLIP-seq
MIRT1221285	hsa-miR-1228	CLIP-seq
MIRT1221286	hsa-miR-1231	CLIP-seq
MIRT1221287	hsa-miR-1233	CLIP-seq
MIRT2292334	hsa-miR-1237	CLIP-seq
MIRT2292335	hsa-miR-1248	CLIP-seq
MIRT1221288	hsa-miR-1273e	CLIP-seq
MIRT1221289	hsa-miR-1285	CLIP-seq
MIRT2292336	hsa-miR-1286	CLIP-seq
MIRT2292337	hsa-miR-1293	CLIP-seq
MIRT1221291	hsa-miR-141	CLIP-seq
MIRT1221292	hsa-miR-146a	CLIP-seq
MIRT1221293	hsa-miR-146b-5p	CLIP-seq
MIRT2292338	hsa-miR-150	CLIP-seq
MIRT2292339	hsa-miR-155	CLIP-seq
MIRT2292340	hsa-miR-190	CLIP-seq
MIRT2292341	hsa-miR-1909	CLIP-seq
MIRT2292342	hsa-miR-190b	CLIP-seq
MIRT2292343	hsa-miR-1976	CLIP-seq
MIRT1221294	hsa-miR-200a	CLIP-seq
MIRT2292344	hsa-miR-206	CLIP-seq
MIRT2292345	hsa-miR-2114	CLIP-seq
MIRT1221295	hsa-miR-217	CLIP-seq
MIRT2292346	hsa-miR-300	CLIP-seq
MIRT2292347	hsa-miR-31	CLIP-seq
MIRT1221296	hsa-miR-3120-5p	CLIP-seq
MIRT1221297	hsa-miR-3136-5p	CLIP-seq
MIRT1221342	hsa-miR-3150a-5p	CLIP-seq
MIRT1221343	hsa-miR-3150b-5p	CLIP-seq
MIRT1221298	hsa-miR-3187-5p	CLIP-seq
MIRT1221299	hsa-miR-329	CLIP-seq
MIRT2292348	hsa-miR-3612	CLIP-seq
MIRT2292349	hsa-miR-3614-5p	CLIP-seq
MIRT1221300	hsa-miR-362-3p	CLIP-seq
MIRT2292350	hsa-miR-3652	CLIP-seq
MIRT2292351	hsa-miR-3665	CLIP-seq
MIRT2292352	hsa-miR-3669	CLIP-seq
MIRT2292353	hsa-miR-3673	CLIP-seq
MIRT1221301	hsa-miR-3689a-3p	CLIP-seq
MIRT1221302	hsa-miR-3689c	CLIP-seq
MIRT1221303	hsa-miR-3689d	CLIP-seq
MIRT2292354	hsa-miR-381	CLIP-seq
MIRT2292355	hsa-miR-3929	CLIP-seq
MIRT1221306	hsa-miR-3941	CLIP-seq
MIRT1221307	hsa-miR-3943	CLIP-seq
MIRT2292356	hsa-miR-409-3p	CLIP-seq
MIRT2292357	hsa-miR-4261	CLIP-seq
MIRT1221308	hsa-miR-4275	CLIP-seq
MIRT2292358	hsa-miR-4279	CLIP-seq
MIRT2292359	hsa-miR-4312	CLIP-seq
MIRT1221309	hsa-miR-4313	CLIP-seq
MIRT1221310	hsa-miR-4323	CLIP-seq
MIRT2292360	hsa-miR-4419b	CLIP-seq
MIRT2292361	hsa-miR-4430	CLIP-seq
MIRT1221311	hsa-miR-4439	CLIP-seq
MIRT2292362	hsa-miR-4443	CLIP-seq
MIRT2292363	hsa-miR-4452	CLIP-seq
MIRT1221312	hsa-miR-4459	CLIP-seq
MIRT2292364	hsa-miR-4464	CLIP-seq
MIRT2292365	hsa-miR-4478	CLIP-seq
MIRT2292366	hsa-miR-4483	CLIP-seq
MIRT2292367	hsa-miR-4488	CLIP-seq
MIRT1221313	hsa-miR-4490	CLIP-seq
MIRT2292368	hsa-miR-4496	CLIP-seq
MIRT2292369	hsa-miR-4501	CLIP-seq
MIRT1221345	hsa-miR-4503	CLIP-seq
MIRT2292370	hsa-miR-4505	CLIP-seq
MIRT2292371	hsa-miR-4521	CLIP-seq
MIRT2292372	hsa-miR-455-5p	CLIP-seq
MIRT1221314	hsa-miR-4659a-3p	CLIP-seq
MIRT1221315	hsa-miR-4659b-3p	CLIP-seq
MIRT1221316	hsa-miR-4691-5p	CLIP-seq
MIRT2292373	hsa-miR-4695-5p	CLIP-seq
MIRT2292374	hsa-miR-4697-5p	CLIP-seq
MIRT2292375	hsa-miR-4703-3p	CLIP-seq
MIRT2292376	hsa-miR-4717-3p	CLIP-seq
MIRT2292377	hsa-miR-4722-3p	CLIP-seq
MIRT2292378	hsa-miR-4722-5p	CLIP-seq
MIRT1221317	hsa-miR-4728-5p	CLIP-seq
MIRT2292379	hsa-miR-4731-5p	CLIP-seq
MIRT2292380	hsa-miR-4748	CLIP-seq
MIRT1221346	hsa-miR-4760-3p	CLIP-seq
MIRT2292381	hsa-miR-4763-3p	CLIP-seq
MIRT2292382	hsa-miR-4763-5p	CLIP-seq
MIRT1221318	hsa-miR-4774-5p	CLIP-seq
MIRT1221319	hsa-miR-4793-3p	CLIP-seq
MIRT2292383	hsa-miR-485-5p	CLIP-seq
MIRT2292384	hsa-miR-486-3p	CLIP-seq
MIRT1221320	hsa-miR-493	CLIP-seq
MIRT1221321	hsa-miR-508-5p	CLIP-seq
MIRT2292385	hsa-miR-539	CLIP-seq
MIRT2292386	hsa-miR-550a	CLIP-seq
MIRT2292387	hsa-miR-569	CLIP-seq
MIRT1221323	hsa-miR-580	CLIP-seq
MIRT2292388	hsa-miR-582-3p	CLIP-seq
MIRT2292389	hsa-miR-584	CLIP-seq
MIRT1221324	hsa-miR-589	CLIP-seq
MIRT1221325	hsa-miR-603	CLIP-seq
MIRT1221326	hsa-miR-612	CLIP-seq
MIRT2292390	hsa-miR-613	CLIP-seq
MIRT1221327	hsa-miR-629	CLIP-seq
MIRT2292391	hsa-miR-637	CLIP-seq
MIRT2292392	hsa-miR-650	CLIP-seq
MIRT2292393	hsa-miR-657	CLIP-seq
MIRT1221328	hsa-miR-661	CLIP-seq
MIRT1221329	hsa-miR-665	CLIP-seq
MIRT1221330	hsa-miR-766	CLIP-seq
MIRT1221331	hsa-miR-767-3p	CLIP-seq
MIRT1221332	hsa-miR-943	CLIP-seq
MIRT2590450	hsa-miR-1279	CLIP-seq
MIRT2292340	hsa-miR-190	CLIP-seq
MIRT2292342	hsa-miR-190b	CLIP-seq
MIRT2590451	hsa-miR-192	CLIP-seq
MIRT2590452	hsa-miR-203	CLIP-seq
MIRT2590453	hsa-miR-2052	CLIP-seq
MIRT2590454	hsa-miR-215	CLIP-seq
MIRT2590455	hsa-miR-299-3p	CLIP-seq
MIRT2590456	hsa-miR-3123	CLIP-seq
MIRT2590457	hsa-miR-340	CLIP-seq
MIRT2590458	hsa-miR-3611	CLIP-seq
MIRT2590459	hsa-miR-376c	CLIP-seq
MIRT2590460	hsa-miR-3925-5p	CLIP-seq
MIRT2292356	hsa-miR-409-3p	CLIP-seq
MIRT2292359	hsa-miR-4312	CLIP-seq
MIRT2590461	hsa-miR-4491	CLIP-seq
MIRT2292372	hsa-miR-455-5p	CLIP-seq
MIRT2590462	hsa-miR-4657	CLIP-seq
MIRT2292375	hsa-miR-4703-3p	CLIP-seq
MIRT2590463	hsa-miR-4724-5p	CLIP-seq
MIRT2590464	hsa-miR-520d-5p	CLIP-seq
MIRT2590465	hsa-miR-524-5p	CLIP-seq
MIRT2292386	hsa-miR-550a	CLIP-seq
MIRT2590466	hsa-miR-562	CLIP-seq
MIRT2292387	hsa-miR-569	CLIP-seq
MIRT2590467	hsa-miR-570	CLIP-seq
MIRT2590468	hsa-miR-649	CLIP-seq
MIRT2590469	hsa-miR-663b	CLIP-seq
MIRT2590470	hsa-miR-892a	CLIP-seq
MIRT2590450	hsa-miR-1279	CLIP-seq
MIRT2292340	hsa-miR-190	CLIP-seq
MIRT2292342	hsa-miR-190b	CLIP-seq
MIRT2590451	hsa-miR-192	CLIP-seq
MIRT2590452	hsa-miR-203	CLIP-seq
MIRT2590453	hsa-miR-2052	CLIP-seq
MIRT2292345	hsa-miR-2114	CLIP-seq
MIRT2590454	hsa-miR-215	CLIP-seq
MIRT2590455	hsa-miR-299-3p	CLIP-seq
MIRT2590456	hsa-miR-3123	CLIP-seq
MIRT2590457	hsa-miR-340	CLIP-seq
MIRT2590458	hsa-miR-3611	CLIP-seq
MIRT2292349	hsa-miR-3614-5p	CLIP-seq
MIRT2292352	hsa-miR-3669	CLIP-seq
MIRT2590459	hsa-miR-376c	CLIP-seq
MIRT2590460	hsa-miR-3925-5p	CLIP-seq
MIRT2687485	hsa-miR-3936	CLIP-seq
MIRT2292356	hsa-miR-409-3p	CLIP-seq
MIRT2292359	hsa-miR-4312	CLIP-seq
MIRT2590461	hsa-miR-4491	CLIP-seq
MIRT2292368	hsa-miR-4496	CLIP-seq
MIRT2292372	hsa-miR-455-5p	CLIP-seq
MIRT2590462	hsa-miR-4657	CLIP-seq
MIRT2292375	hsa-miR-4703-3p	CLIP-seq
MIRT2590463	hsa-miR-4724-5p	CLIP-seq
MIRT2292383	hsa-miR-485-5p	CLIP-seq
MIRT2687486	hsa-miR-494	CLIP-seq
MIRT2687487	hsa-miR-495	CLIP-seq
MIRT2292386	hsa-miR-550a	CLIP-seq
MIRT2590466	hsa-miR-562	CLIP-seq
MIRT2292387	hsa-miR-569	CLIP-seq
MIRT2590467	hsa-miR-570	CLIP-seq
MIRT2590468	hsa-miR-649	CLIP-seq
MIRT2590469	hsa-miR-663b	CLIP-seq
MIRT2590470	hsa-miR-892a	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
FOS	Unknown	8476854
JUN	Unknown	8476854
SP1	Unknown	8476854

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IDA	19081061
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IEA
GO:0005515	Function	Protein binding	IPI	7782287, 12651851, 19081061, 29128334, 29568061, 33961781, 35156780, 36012204
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005739	Component	Mitochondrion	NAS	24534072
GO:0005739	Component	Mitochondrion	TAS	3034892
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IBA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IDA	19081061, 24534072
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016624	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	19081061
GO:0045254	Component	Pyruvate dehydrogenase complex	IPI	19240034
GO:0046872	Function	Metal ion binding	IEA
GO:1902494	Component	Catalytic complex	IEA

MIM	HGNC	e!Ensembl
300502	8806	ENSG00000131828

P08559

Protein name

Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial (EC 1.2.4.1) (PDHE1-A type I)

Protein function

The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

PDB

1NI4 , 2OZL , 3EXE , 3EXF , 3EXG , 3EXH , 3EXI , 6CER , 6CFO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00676	E1_dh	66 → 362	Dehydrogenase E1 component	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTRED
GLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRA
HGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALA
CKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAAST
DYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVS
YRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPP
LEELGYHIYSSDPPFEVRGANQWIKFKSVS

Sequence length

390

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Citrate cycle (TCA cycle) Pyruvate metabolism Lipoic acid metabolism Metabolic pathways Carbon metabolism 2-Oxocarboxylic acid metabolism HIF-1 signaling pathway Glucagon signaling pathway Central carbon metabolism in cancer Diabetic cardiomyopathy		Regulation of pyruvate dehydrogenase (PDH) complex Glyoxylate metabolism and glycine degradation Signaling by Retinoic Acid Pyruvate metabolism

610

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the mitochondrion	Likely pathogenic	rs863224148	RCV001814100
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2063174067	RCV002274173
Nonpapillary renal cell carcinoma	Pathogenic	rs2063213491	RCV005911081
PDHA1-related disorder	Pathogenic	rs137853252, rs137853258	RCV003407316 RCV004748515
Pyruvate dehydrogenase complex deficiency	Likely pathogenic; Pathogenic	rs863224148, rs863224150, rs863224146, rs863224147, rs606231189, rs1555933963, rs1555935223, rs1555935486, rs1569190079	RCV001796727 RCV001526400 RCV001753598 RCV001796726 RCV001753411 RCV001824834 RCV004526707 RCV000587877 RCV000770934
Pyruvate dehydrogenase E1-alpha deficiency	Pathogenic; Likely pathogenic	rs2063213491, rs2147178249, rs137853259, rs2147180935, rs2147180839, rs2147176072, rs2147180742, rs2147189315, rs2147180851, rs2147184540, rs2147184502, rs2147168716, rs2147187199, rs2147188973, rs2147189334 View all (99 more)	RCV001329773 RCV001824174 RCV001638161 RCV001844384 RCV001706839 RCV001775392 RCV001775482 RCV001784813 RCV001782589 RCV001782590 RCV001785357 RCV001808196 RCV002043630 RCV002227413 RCV002249122 RCV006262011 RCV002468760 RCV002471390 RCV002470655 RCV000184034 RCV002810656 RCV000692713 RCV001853189 RCV001731151 RCV006262071 RCV000640506 RCV006261956 RCV000760291 RCV001254096 RCV001224932 RCV006261958 RCV006261957 RCV000497402 RCV001853190 RCV002991812 RCV003054798 RCV003027900 RCV003110143 RCV003135630 RCV003131160 RCV005208204 RCV000011618 RCV000011619 RCV000011620 RCV000011621 RCV000011622 RCV000011623 RCV000011624 RCV000011625 RCV000011626 RCV000011627 RCV000011628 RCV000011629 RCV000011630 RCV000011631 RCV000011633 RCV000011634 RCV000011635 RCV000011636 RCV000011637 RCV000011638 RCV000011640 RCV006261965 RCV003335786 RCV003335884 RCV004763690 RCV003885343 RCV003510915 RCV003509039 RCV003509040 RCV003509041 RCV003509042 RCV003510007 RCV003621954 RCV003623453 RCV003985123 RCV004515805 RCV004017199 RCV001753844 RCV001250113 RCV001216859 RCV006261971 RCV000495894 RCV006261972 RCV006261974 RCV000995830 RCV006261973 RCV001853679 RCV000578270 RCV000578359 RCV000578439 RCV000578365 RCV006261978 RCV006261979 RCV006261981 RCV000679874 RCV000680062 RCV000679875 RCV000688120 RCV000721984 RCV000721985 RCV006261987 RCV000789029 RCV000805497 RCV000793164 RCV000990498 RCV000995601 RCV001007886 RCV001067311 RCV001044643 RCV001542509 RCV006261992 RCV001198456 RCV001204675 RCV001253745 RCV001262561 RCV001265577 RCV006261996 RCV001269298 RCV001281574 RCV001218777
See cases	Likely pathogenic; Pathogenic	rs137853250	RCV002251895
SUDDEN INFANT DEATH SYNDROME	Pathogenic	rs863224147	RCV001788065
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs886039690, rs1555934379, rs1555934843, rs2063162114	RCV005895453 RCV005899803 RCV005900086 RCV005913639

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs7058209	RCV005886184
Cervical cancer	Benign	rs151275584	RCV005922971
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs7058209	RCV005886192
Epileptic encephalopathy	Uncertain significance	rs1057518756	RCV000415390
Familial cancer of breast	Benign	rs192450087, rs7058209	RCV005908874 RCV005886183
Familial pancreatic carcinoma	Benign	rs7058209	RCV005886188
Gastric cancer	Benign	rs7890070	RCV005923813
Intellectual disability	Conflicting classifications of pathogenicity	rs749319044	RCV005626643
Lung cancer	Benign	rs7890070	RCV005923815
Lymphoma	Benign	rs7058209	RCV005886189
Malignant tumor of esophagus	Benign	rs7058209	RCV005886185
Neurodevelopmental abnormality	Likely benign	rs2063114288	RCV001264665
Ovarian cancer	Benign	rs7058209	RCV005886187
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs7890070, rs13440874	RCV005923814 RCV005931473
Seizure	Uncertain significance	rs1057518756	RCV000415390
Thymoma	Benign	rs7058209	RCV005886191
Uterine carcinosarcoma	Benign	rs7058209	RCV005886190
Uterine corpus endometrial carcinoma	Likely benign	rs757875138	RCV005931444

Show/Hide Text Mining Associations (58)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Lactic	Associate	23572181
Adenocarcinoma of Lung	Associate	36071546
Agenesis of Corpus Callosum	Associate	18197404, 35943828
Arthritis Rheumatoid	Associate	37547319
Ataxia	Associate	18504677, 20002125, 29756269
Ataxia Neuropathy Spectrum	Associate	29756269
Atrophy	Associate	21723463
Autoimmune Diseases	Associate	38062233
Basal Ganglia Diseases	Associate	29756269
Brain Damage Chronic	Associate	18197404
Brain Diseases	Associate	18504677, 26014431
Breast Neoplasms	Associate	36312586, 36518756
Carcinoma Hepatocellular	Associate	38078880
Carcinoma Pancreatic Ductal	Associate	36826087
Carcinoma Renal Cell	Associate	34930316
Cardiomegaly	Associate	39920986
Cardiomyopathy Dilated	Associate	21723463
Cardiomyopathy Hypertrophic	Associate	39920986
Coenzyme Q10 Deficiency	Associate	26014431
COVID 19	Associate	37533853
Crohn Disease	Associate	36466876
Cysts	Associate	18197404
Diabetes Mellitus	Associate	37773841
Dystonia	Associate	15473177
Endometriosis	Associate	36474131, 38062233
Esophageal Neoplasms	Associate	38159255
Esophageal Squamous Cell Carcinoma	Associate	37866660
Fumaric aciduria	Associate	29191787
Genetic Diseases Inborn	Associate	7573035
Genetic Diseases X Linked	Associate	7573035
Glioma	Associate	36270342
Heart Failure	Associate	39920986
Heart Injuries	Associate	36988255
Hydrocephalus	Associate	35943828, 40603987
Hypertrophy	Associate	39920986
Hypoxia	Associate	27231905
Hypoxia Ischemia Brain	Associate	35943828
Inflammatory Bowel Diseases	Associate	37275904
Leigh Disease	Associate	20002125, 33661577, 36675121
Leukemia Myeloid Acute	Associate	39300580
Leukoencephalopathies	Associate	35943828
Lupus Erythematosus Systemic	Associate	38062233
Microcephaly	Associate	35943828
Motor Disorders	Associate	31673819
Multiple Myeloma	Associate	38018590
Neoplasms	Associate	18541534, 25152236, 36474131, 39445568
Osteoarthritis	Associate	36817415, 37809099
Osteosarcoma	Associate	36967449
Pancreatic Pseudocyst	Associate	35943828
Prostatic Neoplasms	Associate	27462778, 28076853, 37056926
Prostatitis	Inhibit	28076853
Pulmonary Arterial Hypertension	Associate	35145193
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	15473177, 16904023, 17043409, 18197404, 18504677, 20002125, 21723463, 23572181, 28918066, 31673819, 33092611, 33661577, 35038180, 40225937
Pyruvate Dehydrogenase E1 Alpha Deficiency	Associate	21723463, 7573035
Seizures	Associate	23572181
Sjogren's Syndrome	Inhibit	36254059
Stomach Neoplasms	Stimulate	37505170
Synovitis	Associate	36817415

PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1)