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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1737
Gene name Gene Name - the full gene name approved by the HGNC.	Dihydrolipoamide S-acetyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DLAT
Synonyms (NCBI Gene) Gene synonyms aliases	DLTA, E2, PBC, PDC-E2, PDCE2
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q23.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acet

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138505899	T>G	Likely-pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs140678772	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs367875541	G>A	Likely-pathogenic	Splice acceptor variant
rs781936816	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs782070173	T>C	Likely-pathogenic	Splice donor variant
rs782704553	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs797044957	T>G	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, intron variant

Show/Hide all(184)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032242	hsa-let-7b-5p	Proteomics	18668040
MIRT047485	hsa-miR-10b-5p	CLASH	23622248
MIRT040451	hsa-miR-615-3p	CLASH	23622248
MIRT447438	hsa-miR-5192	PAR-CLIP	22100165
MIRT447439	hsa-miR-6731-5p	PAR-CLIP	22100165
MIRT447437	hsa-miR-8085	PAR-CLIP	22100165
MIRT447438	hsa-miR-5192	PAR-CLIP	22100165
MIRT447439	hsa-miR-6731-5p	PAR-CLIP	22100165
MIRT447437	hsa-miR-8085	PAR-CLIP	22100165
MIRT755559	hsa-miR-122-5p	Luciferase reporter assay	38144299
MIRT937712	hsa-miR-1262	CLIP-seq
MIRT937713	hsa-miR-1271	CLIP-seq
MIRT937714	hsa-miR-129-3p	CLIP-seq
MIRT937715	hsa-miR-1324	CLIP-seq
MIRT937716	hsa-miR-182	CLIP-seq
MIRT937717	hsa-miR-2053	CLIP-seq
MIRT937718	hsa-miR-2054	CLIP-seq
MIRT937719	hsa-miR-3122	CLIP-seq
MIRT937720	hsa-miR-3127-5p	CLIP-seq
MIRT937721	hsa-miR-3177-5p	CLIP-seq
MIRT937722	hsa-miR-3192	CLIP-seq
MIRT937723	hsa-miR-320a	CLIP-seq
MIRT937724	hsa-miR-320b	CLIP-seq
MIRT937725	hsa-miR-320c	CLIP-seq
MIRT937726	hsa-miR-320d	CLIP-seq
MIRT937727	hsa-miR-338-5p	CLIP-seq
MIRT937728	hsa-miR-340	CLIP-seq
MIRT937729	hsa-miR-361-3p	CLIP-seq
MIRT937730	hsa-miR-3616-5p	CLIP-seq
MIRT937731	hsa-miR-3647-5p	CLIP-seq
MIRT937732	hsa-miR-365	CLIP-seq
MIRT937733	hsa-miR-3653	CLIP-seq
MIRT937734	hsa-miR-3658	CLIP-seq
MIRT937735	hsa-miR-3661	CLIP-seq
MIRT937736	hsa-miR-3679-3p	CLIP-seq
MIRT937737	hsa-miR-380	CLIP-seq
MIRT937738	hsa-miR-3913-5p	CLIP-seq
MIRT937739	hsa-miR-3922-5p	CLIP-seq
MIRT937740	hsa-miR-3942-3p	CLIP-seq
MIRT937741	hsa-miR-4282	CLIP-seq
MIRT937742	hsa-miR-4302	CLIP-seq
MIRT937743	hsa-miR-4422	CLIP-seq
MIRT937744	hsa-miR-4424	CLIP-seq
MIRT937745	hsa-miR-4429	CLIP-seq
MIRT937746	hsa-miR-4455	CLIP-seq
MIRT937747	hsa-miR-4477a	CLIP-seq
MIRT937748	hsa-miR-4489	CLIP-seq
MIRT937749	hsa-miR-4509	CLIP-seq
MIRT937750	hsa-miR-450b-3p	CLIP-seq
MIRT937751	hsa-miR-4528	CLIP-seq
MIRT937752	hsa-miR-4635	CLIP-seq
MIRT937753	hsa-miR-4641	CLIP-seq
MIRT937754	hsa-miR-4666-5p	CLIP-seq
MIRT937755	hsa-miR-4670-3p	CLIP-seq
MIRT937756	hsa-miR-4694-3p	CLIP-seq
MIRT937757	hsa-miR-4701-3p	CLIP-seq
MIRT937758	hsa-miR-4708-3p	CLIP-seq
MIRT937759	hsa-miR-4717-5p	CLIP-seq
MIRT937760	hsa-miR-4728-3p	CLIP-seq
MIRT937761	hsa-miR-4744	CLIP-seq
MIRT937762	hsa-miR-4753-5p	CLIP-seq
MIRT937763	hsa-miR-4761-5p	CLIP-seq
MIRT937764	hsa-miR-4764-3p	CLIP-seq
MIRT937765	hsa-miR-4799-5p	CLIP-seq
MIRT937766	hsa-miR-498	CLIP-seq
MIRT937767	hsa-miR-502-5p	CLIP-seq
MIRT937768	hsa-miR-513a-3p	CLIP-seq
MIRT937769	hsa-miR-522	CLIP-seq
MIRT937770	hsa-miR-526b	CLIP-seq
MIRT937771	hsa-miR-548a-5p	CLIP-seq
MIRT937772	hsa-miR-548ab	CLIP-seq
MIRT937773	hsa-miR-548ak	CLIP-seq
MIRT937774	hsa-miR-548b-5p	CLIP-seq
MIRT937775	hsa-miR-548c-3p	CLIP-seq
MIRT937776	hsa-miR-548c-5p	CLIP-seq
MIRT937777	hsa-miR-548d-5p	CLIP-seq
MIRT937778	hsa-miR-548h	CLIP-seq
MIRT937779	hsa-miR-548i	CLIP-seq
MIRT937780	hsa-miR-548j	CLIP-seq
MIRT937781	hsa-miR-548k	CLIP-seq
MIRT937782	hsa-miR-548l	CLIP-seq
MIRT937783	hsa-miR-548w	CLIP-seq
MIRT937784	hsa-miR-548y	CLIP-seq
MIRT937785	hsa-miR-559	CLIP-seq
MIRT937786	hsa-miR-573	CLIP-seq
MIRT937787	hsa-miR-581	CLIP-seq
MIRT937788	hsa-miR-587	CLIP-seq
MIRT937789	hsa-miR-609	CLIP-seq
MIRT937790	hsa-miR-628-5p	CLIP-seq
MIRT937791	hsa-miR-631	CLIP-seq
MIRT937792	hsa-miR-769-3p	CLIP-seq
MIRT937793	hsa-miR-96	CLIP-seq
MIRT1977564	hsa-miR-1207-3p	CLIP-seq
MIRT937713	hsa-miR-1271	CLIP-seq
MIRT937716	hsa-miR-182	CLIP-seq
MIRT1977565	hsa-miR-2682	CLIP-seq
MIRT1977566	hsa-miR-3125	CLIP-seq
MIRT1977567	hsa-miR-325	CLIP-seq
MIRT937727	hsa-miR-338-5p	CLIP-seq
MIRT1977568	hsa-miR-3685	CLIP-seq
MIRT1977569	hsa-miR-384	CLIP-seq
MIRT1977570	hsa-miR-3916	CLIP-seq
MIRT1977571	hsa-miR-3920	CLIP-seq
MIRT937739	hsa-miR-3922-5p	CLIP-seq
MIRT937740	hsa-miR-3942-3p	CLIP-seq
MIRT1977572	hsa-miR-4299	CLIP-seq
MIRT1977573	hsa-miR-4456	CLIP-seq
MIRT937747	hsa-miR-4477a	CLIP-seq
MIRT1977574	hsa-miR-449c	CLIP-seq
MIRT937758	hsa-miR-4708-3p	CLIP-seq
MIRT937759	hsa-miR-4717-5p	CLIP-seq
MIRT937762	hsa-miR-4753-5p	CLIP-seq
MIRT1977575	hsa-miR-4768-5p	CLIP-seq
MIRT1977576	hsa-miR-487b	CLIP-seq
MIRT937768	hsa-miR-513a-3p	CLIP-seq
MIRT1977577	hsa-miR-548q	CLIP-seq
MIRT1977578	hsa-miR-618	CLIP-seq
MIRT1977579	hsa-miR-628-3p	CLIP-seq
MIRT1977580	hsa-miR-802	CLIP-seq
MIRT1977581	hsa-miR-877	CLIP-seq
MIRT1977582	hsa-miR-940	CLIP-seq
MIRT937793	hsa-miR-96	CLIP-seq
MIRT2212843	hsa-miR-1179	CLIP-seq
MIRT2212844	hsa-miR-1256	CLIP-seq
MIRT2212845	hsa-miR-128	CLIP-seq
MIRT2212846	hsa-miR-3145-5p	CLIP-seq
MIRT2212847	hsa-miR-3692	CLIP-seq
MIRT937739	hsa-miR-3922-5p	CLIP-seq
MIRT2212848	hsa-miR-4503	CLIP-seq
MIRT2212849	hsa-miR-4642	CLIP-seq
MIRT937756	hsa-miR-4694-3p	CLIP-seq
MIRT2212850	hsa-miR-4698	CLIP-seq
MIRT937758	hsa-miR-4708-3p	CLIP-seq
MIRT937759	hsa-miR-4717-5p	CLIP-seq
MIRT937762	hsa-miR-4753-5p	CLIP-seq
MIRT1977575	hsa-miR-4768-5p	CLIP-seq
MIRT2212851	hsa-miR-4775	CLIP-seq
MIRT2212852	hsa-miR-494	CLIP-seq
MIRT937769	hsa-miR-522	CLIP-seq
MIRT2212853	hsa-miR-562	CLIP-seq
MIRT2212854	hsa-miR-579	CLIP-seq
MIRT937788	hsa-miR-587	CLIP-seq
MIRT2212855	hsa-miR-590-3p	CLIP-seq
MIRT2212856	hsa-miR-664	CLIP-seq
MIRT937717	hsa-miR-2053	CLIP-seq
MIRT937720	hsa-miR-3127-5p	CLIP-seq
MIRT2516729	hsa-miR-3133	CLIP-seq
MIRT1977567	hsa-miR-325	CLIP-seq
MIRT937727	hsa-miR-338-5p	CLIP-seq
MIRT937733	hsa-miR-3653	CLIP-seq
MIRT937734	hsa-miR-3658	CLIP-seq
MIRT937742	hsa-miR-4302	CLIP-seq
MIRT937743	hsa-miR-4422	CLIP-seq
MIRT937747	hsa-miR-4477a	CLIP-seq
MIRT937748	hsa-miR-4489	CLIP-seq
MIRT937764	hsa-miR-4764-3p	CLIP-seq
MIRT2516730	hsa-miR-4803	CLIP-seq
MIRT2212852	hsa-miR-494	CLIP-seq
MIRT937768	hsa-miR-513a-3p	CLIP-seq
MIRT2516731	hsa-miR-548b-3p	CLIP-seq
MIRT937775	hsa-miR-548c-3p	CLIP-seq
MIRT2212853	hsa-miR-562	CLIP-seq
MIRT2212854	hsa-miR-579	CLIP-seq
MIRT2516732	hsa-miR-582-3p	CLIP-seq
MIRT2516733	hsa-miR-607	CLIP-seq
MIRT1977578	hsa-miR-618	CLIP-seq
MIRT1977579	hsa-miR-628-3p	CLIP-seq
MIRT2212856	hsa-miR-664	CLIP-seq
MIRT1977580	hsa-miR-802	CLIP-seq
MIRT937720	hsa-miR-3127-5p	CLIP-seq
MIRT2516729	hsa-miR-3133	CLIP-seq
MIRT937743	hsa-miR-4422	CLIP-seq
MIRT937748	hsa-miR-4489	CLIP-seq
MIRT937764	hsa-miR-4764-3p	CLIP-seq
MIRT2516730	hsa-miR-4803	CLIP-seq
MIRT2212852	hsa-miR-494	CLIP-seq
MIRT937768	hsa-miR-513a-3p	CLIP-seq
MIRT2516731	hsa-miR-548b-3p	CLIP-seq
MIRT937775	hsa-miR-548c-3p	CLIP-seq
MIRT2212853	hsa-miR-562	CLIP-seq
MIRT2212854	hsa-miR-579	CLIP-seq
MIRT2516732	hsa-miR-582-3p	CLIP-seq
MIRT2516733	hsa-miR-607	CLIP-seq
MIRT2212856	hsa-miR-664	CLIP-seq

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	IBA
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	IDA	9045657, 9242632, 20160912
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	IEA
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	NAS	3191998
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	15861126, 17683942, 18206651, 25525879, 28514442, 33961781
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	24534072
GO:0005759	Component	Mitochondrial matrix	IEA
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	IC	9242632
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IDA	24534072
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	ISS
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	ISS
GO:0016407	Function	Acetyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	18184587, 18184588
GO:0042867	Process	Pyruvate catabolic process	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IBA
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	9242632, 25525879
GO:0045254	Component	Pyruvate dehydrogenase complex	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IPI	19240034
GO:0045254	Component	Pyruvate dehydrogenase complex	ISS
GO:0045254	Component	Pyruvate dehydrogenase complex	NAS	3191998

MIM	HGNC	e!Ensembl
608770	2896	ENSG00000150768

Protein

UniProt ID

P10515

Protein name

Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial (EC 2.3.1.12) (70 kDa mitochondrial autoantigen of primary biliary cirrhosis) (PBC) (Dihydrolipoamide acetyltransferase component of pyruvate dehydrog

Protein function

As part of the pyruvate dehydrogenase complex, catalyzes the transfers of an acetyl group to a lipoic acid moiety (Probable). The pyruvate dehydrogenase complex, catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby l

PDB

1FYC , 1Y8N , 1Y8O , 1Y8P , 2DNE , 2PNR , 2Q8I , 3B8K , 3CRK , 3CRL , 6CT0 , 6H55 , 8PIU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00364	Biotin_lipoyl	92 → 165	Biotin-requiring enzyme	Domain
PF00364	Biotin_lipoyl	219 → 293	Biotin-requiring enzyme	Domain
PF02817	E3_binding	355 → 390	e3 binding domain	Family
PF00198	2-oxoacid_dh	417 → 647	2-oxoacid dehydrogenases acyltransferase (catalytic domain)	Domain

Sequence

MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCG
WTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKIN
EGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYT
LDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEK
KVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADI
SAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPL
AKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVF
TDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFI
IKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIAND
VVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPA
DNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL

Sequence length

647

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Citrate cycle (TCA cycle) Pyruvate metabolism Lipoic acid metabolism Metabolic pathways Carbon metabolism 2-Oxocarboxylic acid metabolism		Regulation of pyruvate dehydrogenase (PDH) complex Glyoxylate metabolism and glycine degradation Signaling by Retinoic Acid Pyruvate metabolism

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Pyruvate Dehydrogenase Deficiency	pyruvate dehydrogenase e2 deficiency	rs2137679109, rs367875541, rs782704553, rs781991355	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
leigh syndrome	Leigh syndrome	N/A	N/A	ClinVar
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Stimulate	36949759
Alcohol Related Disorders	Associate	36611155, 37505170
Arthritis Psoriatic	Associate	16622521
Arthritis Rheumatoid	Associate	37547319
Breast Neoplasms	Associate	35996075, 36949759, 37180167
Breast Neoplasms	Inhibit	36312586
Carcinogenesis	Associate	36949759, 37199628, 37949877
Carcinoma Hepatocellular	Associate	36611155, 37124062, 37885090, 37949877, 38025761, 38078880, 39528670, 40141422
Carcinoma Hepatocellular	Stimulate	36949759, 37828099, 39710381
Carcinoma Non Small Cell Lung	Associate	35869499
Carcinoma Pancreatic Ductal	Associate	36826087
Carcinoma Renal Cell	Inhibit	36949759
Carcinoma Renal Cell	Associate	37889309, 37938155
Carcinoma Squamous Cell	Stimulate	36949759
Cholestasis	Associate	34737337
Colonic Neoplasms	Associate	32744303
Colorectal Neoplasms	Associate	38078879
Copper deficiency familial benign	Associate	37938155
Depressive Disorder Major	Associate	40149491
Diabetes Mellitus	Associate	37773841
Esophageal Squamous Cell Carcinoma	Associate	37866660
Glioma	Associate	36270342, 39574473, 40355831
Heart Injuries	Associate	36988255
Hepatolenticular Degeneration	Associate	39809184
Idiopathic Noncirrhotic Portal Hypertension	Associate	34737337
Immune System Diseases	Inhibit	37938155
Inflammation	Associate	39574473
Inflammatory Bowel Diseases	Associate	40149491
Kidney Diseases	Associate	36949759
Liver Cirrhosis Biliary	Associate	10706737, 11344867, 11457875, 15845458, 19630465, 20568301, 21735469, 34737337, 7836925, 8102256, 8460168, 8514873, 8565296, 9819369
Microsatellite Instability	Associate	37199628
Mitochondrial Diseases	Associate	33615715
Neoplasms	Associate	35869499, 36706634, 36949759, 37199628, 37828099, 39574473
Neoplasms	Stimulate	37866660
Opitz GBBB Syndrome X Linked	Associate	40367233
Osteoarthritis	Associate	37809099
Pancreatic Neoplasms	Associate	36975441, 37330494, 40367233
Periodontitis	Associate	37215133
Renal Insufficiency	Associate	33615715
Retinal Nonattachment Nonsyndromic Congenital	Associate	36012169
Squamous Cell Carcinoma of Head and Neck	Inhibit	36949759
Stomach Neoplasms	Stimulate	36949759, 37505170
Thrombosis	Associate	36012169

DLAT (dihydrolipoamide S-acetyltransferase)