PDHB (pyruvate dehydrogenase E1 subunit beta)

Gene

• Entrez ID: 5162
• Gene name: Pyruvate dehydrogenase E1 subunit beta
• Gene symbol: PDHB
• Synonyms: PDHBD, PDHE1-B, PDHE1B, PHE1B
• Chromosome: 3
• Chromosome location: 3p14.3
• Summary: 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 (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027487	hsa-miR-98-5p	Microarray	19088304
MIRT052771	hsa-miR-1260b	CLASH	23622248
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT635009	hsa-miR-3674	HITS-CLIP	23824327
MIRT635010	hsa-miR-6844	HITS-CLIP	23824327
MIRT635011	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT635012	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT687238	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT687239	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687240	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687241	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687242	hsa-miR-610	HITS-CLIP	23313552
MIRT687243	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687244	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687245	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687246	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT687247	hsa-miR-6752-3p	HITS-CLIP	23313552
MIRT687248	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687249	hsa-miR-520h	HITS-CLIP	23313552
MIRT687250	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687251	hsa-miR-556-5p	HITS-CLIP	23313552
MIRT687252	hsa-miR-1295b-3p	HITS-CLIP	23313552
MIRT687253	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687254	hsa-miR-520e	HITS-CLIP	23313552
MIRT687255	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687256	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687257	hsa-miR-520b	HITS-CLIP	23313552
MIRT687258	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687259	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687260	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687261	hsa-miR-302e	HITS-CLIP	23313552
MIRT687262	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687263	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687264	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687265	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687266	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687267	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687268	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687269	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687270	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687271	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687272	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687273	hsa-miR-106a-5p	HITS-CLIP	23313552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IBA	21873635
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IDA	19081061
GO:0005515	Function	Protein binding	IPI	12651851, 18206651, 29128334
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005967	Component	Mitochondrial pyruvate dehydrogenase complex	IBA	21873635
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006086	Process	Acetyl-CoA biosynthetic process from pyruvate	IBA	21873635
GO:0006086	Process	Acetyl-CoA biosynthetic process from pyruvate	IDA	19081061
GO:0006090	Process	Pyruvate metabolic process	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0034604	Function	Pyruvate dehydrogenase (NAD+) activity	IDA	18164639
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	19081061
GO:0061732	Process	Mitochondrial acetyl-CoA biosynthetic process from pyruvate	IC	18164639

Other IDs

• MIM: 179060
• HGNC: 8808
• e!Ensembl: 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