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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5162
Gene name Gene Name - the full gene name approved by the HGNC.	Pyruvate dehydrogenase E1 subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PDHB
Synonyms (NCBI Gene) Gene synonyms aliases	E1beta, PDHBD, PDHE1-B, PDHE1B, PHE1B
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p14.3
Summary Summary of gene provided in NCBI Entrez Gene.	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933391	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28935769	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs863224158	A>T	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs863225125	TACATACCATA>-	Pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant

Show/Hide all(155)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027487	hsa-miR-98-5p	Microarray	19088304
MIRT052771	hsa-miR-1260b	CLASH	23622248
MIRT687273	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT687272	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687271	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687270	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687269	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687268	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687267	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687266	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687265	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687264	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687263	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687262	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687261	hsa-miR-302e	HITS-CLIP	23313552
MIRT687260	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687259	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687258	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687257	hsa-miR-520b	HITS-CLIP	23313552
MIRT687256	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687255	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687254	hsa-miR-520e	HITS-CLIP	23313552
MIRT687253	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687252	hsa-miR-1295b-3p	HITS-CLIP	23313552
MIRT687251	hsa-miR-556-5p	HITS-CLIP	23313552
MIRT687250	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687249	hsa-miR-520h	HITS-CLIP	23313552
MIRT687248	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687247	hsa-miR-6752-3p	HITS-CLIP	23313552
MIRT687246	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT687245	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687244	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687243	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687242	hsa-miR-610	HITS-CLIP	23313552
MIRT687241	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687240	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687239	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687238	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635012	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT635011	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT635010	hsa-miR-6844	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635009	hsa-miR-3674	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT687273	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT687272	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687271	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687270	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687269	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687268	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687267	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687266	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687265	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687264	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687263	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687262	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687261	hsa-miR-302e	HITS-CLIP	23313552
MIRT687260	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687259	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687258	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687257	hsa-miR-520b	HITS-CLIP	23313552
MIRT687256	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687255	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687254	hsa-miR-520e	HITS-CLIP	23313552
MIRT687253	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687252	hsa-miR-1295b-3p	HITS-CLIP	23313552
MIRT687251	hsa-miR-556-5p	HITS-CLIP	23313552
MIRT687250	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687249	hsa-miR-520h	HITS-CLIP	23313552
MIRT687248	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687247	hsa-miR-6752-3p	HITS-CLIP	23313552
MIRT687246	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT687245	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687244	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687243	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687242	hsa-miR-610	HITS-CLIP	23313552
MIRT687241	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687240	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687239	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687238	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635012	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT635011	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT635010	hsa-miR-6844	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635009	hsa-miR-3674	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT1221347	hsa-miR-764	CLIP-seq
MIRT1221348	hsa-miR-1185	CLIP-seq
MIRT1221349	hsa-miR-185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT1221351	hsa-miR-3150b-3p	CLIP-seq
MIRT1221352	hsa-miR-3163	CLIP-seq
MIRT1221353	hsa-miR-3662	CLIP-seq
MIRT1221354	hsa-miR-3679-5p	CLIP-seq
MIRT1221355	hsa-miR-4306	CLIP-seq
MIRT1221356	hsa-miR-4644	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221358	hsa-miR-4693-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221360	hsa-miR-4784	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq
MIRT1221363	hsa-miR-765	CLIP-seq
MIRT2063889	hsa-miR-431	CLIP-seq
MIRT1221349	hsa-miR-185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT1221355	hsa-miR-4306	CLIP-seq
MIRT1221356	hsa-miR-4644	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221358	hsa-miR-4693-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT2292394	hsa-miR-587	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq
MIRT1221348	hsa-miR-1185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT2590474	hsa-miR-3064-3p	CLIP-seq
MIRT1221352	hsa-miR-3163	CLIP-seq
MIRT1221353	hsa-miR-3662	CLIP-seq
MIRT1221354	hsa-miR-3679-5p	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq
MIRT1221348	hsa-miR-1185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT2590474	hsa-miR-3064-3p	CLIP-seq
MIRT1221352	hsa-miR-3163	CLIP-seq
MIRT1221353	hsa-miR-3662	CLIP-seq
MIRT1221354	hsa-miR-3679-5p	CLIP-seq
MIRT2063889	hsa-miR-431	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IDA	18164639, 19081061
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IEA
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	TAS	2376596
GO:0005515	Function	Protein binding	IPI	12651851, 18206651, 19081061, 29128334, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	2295468
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	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	18164639
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	ISS
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	TAS	2376596
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IBA
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	19081061
GO:0045254	Component	Pyruvate dehydrogenase complex	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IPI	19240034
GO:0045254	Component	Pyruvate dehydrogenase complex	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0072522	Process	Purine-containing compound biosynthetic process	IEA

MIM	HGNC	e!Ensembl
179060	8808	ENSG00000168291

Protein

UniProt ID

P11177

Protein name

Pyruvate dehydrogenase E1 component subunit beta, mitochondrial (PDHE1-B) (EC 1.2.4.1)

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
PF02779	Transket_pyr	32 → 209	Transketolase, pyrimidine binding domain	Domain
PF02780	Transketolase_C	226 → 349	Transketolase, C-terminal domain	Domain

Sequence

MAAVSGLVRRPLREVSGLLKRRFHWTAPAALQVTVRDAINQGMDEELERDEKVFLLGEEV
AQYDGAYKVSRGLWKKYGDKRIIDTPISEMGFAGIAVGAAMAGLRPICEFMTFNFSMQAI
DQVINSAAKTYYMSGGLQPVPIVFRGPNGASAGVAAQHSQCFAAWYGHCPGLKVVSPWNS
EDAKGLIKSAIRDNNPVVVLENELMYGVPFEFPPEAQSKDFLIPIGKAKIERQGTHITVV
SHSRPVGHCLEAAAVLSKEGVECEVINMRTIRPMDMETIEASVMKTNHLVTVEGGWPQFG
VGAEICARIMEGPAFNFLDAPAVRVTGADVPMPYAKILEDNSIPQVKDIIFAIKKTLNI

Sequence length

359

Interactions

View interactions

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 e1-beta deficiency	rs28935769, rs28933391, rs747573712	N/A

Show/Hide Unknown Diseases (4)

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	GenCC
Pyruvate Dehydrogenase Phosphatase Deficiency	pyruvate dehydrogenase phosphatase deficiency	N/A	N/A	ClinVar
seizure	Seizure	N/A	N/A	ClinVar
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acidosis Lactic	Associate	40050878
Alzheimer Disease	Associate	39396083
Arthritis Rheumatoid	Associate	37547319
Carcinoma Pancreatic Ductal	Associate	36826087
Carcinoma Renal Cell	Associate	37350959, 37641032
Cardiomyopathy Dilated	Associate	27711126
Coenzyme Q10 Deficiency	Associate	26014431
Colorectal Neoplasms	Associate	38078879
Depressive Disorder Major	Associate	40149491
Diabetes Mellitus	Associate	37773841
Diabetes Mellitus Type 2	Stimulate	26367490
Esophageal Neoplasms	Associate	38159255
Esophageal Squamous Cell Carcinoma	Associate	37866660
Glioma	Associate	30178846, 36270342
Growth Disorders	Associate	40050878
Leigh Disease	Associate	36675121
Microcephaly with Mental Retardation and Digital Anomalies	Associate	40050878
Multiple Myeloma	Associate	38018590
Neoplasms	Inhibit	37641032
Neoplastic Syndromes Hereditary	Associate	35235001
Osteoarthritis	Associate	36817415, 37809099
Parkinson Disease	Associate	36593912
Pulmonary Disease Chronic Obstructive	Associate	40255693
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	17923481, 35038180, 40050878
Seizures	Associate	40050878
Stomach Neoplasms	Associate	20699381
Stomach Neoplasms	Stimulate	37505170

PDHB (pyruvate dehydrogenase E1 subunit beta)