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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54704
Gene name	Pyruvate dehydrogenase phosphatase catalytic subunit 1
Gene symbol	PDP1
Synonyms (NCBI Gene)	PDHPDPPDPCPDPC 1PPM2APPM2C
Chromosome	8
Chromosome location	8q22.1
Summary	Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the comple

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606938	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057524261	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554572659	GTGAAAGACTCTTTTATTATATTGCTGTCTCTTTGTTACCCCATGAGACTTTGCTAGAGATTGAAAATGCAGTGGAGAGCG>CT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554572756	TTC>-	Pathogenic	Coding sequence variant, inframe deletion

151

Show/Hide all (151)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018451	hsa-miR-335-5p	Microarray	18185580
MIRT1222346	hsa-miR-34c-3p	CLIP-seq
MIRT1222347	hsa-miR-1184	CLIP-seq
MIRT1222348	hsa-miR-1205	CLIP-seq
MIRT1222349	hsa-miR-1244	CLIP-seq
MIRT1222350	hsa-miR-127-5p	CLIP-seq
MIRT1222351	hsa-miR-199a-3p	CLIP-seq
MIRT1222352	hsa-miR-199b-3p	CLIP-seq
MIRT1222353	hsa-miR-302f	CLIP-seq
MIRT1222354	hsa-miR-3129-5p	CLIP-seq
MIRT1222355	hsa-miR-3140-3p	CLIP-seq
MIRT1222356	hsa-miR-3163	CLIP-seq
MIRT1222357	hsa-miR-323-5p	CLIP-seq
MIRT1222358	hsa-miR-3620	CLIP-seq
MIRT1222359	hsa-miR-370	CLIP-seq
MIRT1222360	hsa-miR-3935	CLIP-seq
MIRT1222361	hsa-miR-4252	CLIP-seq
MIRT1222362	hsa-miR-4269	CLIP-seq
MIRT1222363	hsa-miR-4274	CLIP-seq
MIRT1222364	hsa-miR-4276	CLIP-seq
MIRT1222365	hsa-miR-4477a	CLIP-seq
MIRT1222366	hsa-miR-4503	CLIP-seq
MIRT1222367	hsa-miR-4514	CLIP-seq
MIRT1222368	hsa-miR-4668-3p	CLIP-seq
MIRT1222369	hsa-miR-4692	CLIP-seq
MIRT1222370	hsa-miR-4694-5p	CLIP-seq
MIRT1222371	hsa-miR-4707-5p	CLIP-seq
MIRT1222372	hsa-miR-4711-5p	CLIP-seq
MIRT1222373	hsa-miR-4715-3p	CLIP-seq
MIRT1222374	hsa-miR-4722-3p	CLIP-seq
MIRT1222375	hsa-miR-4724-3p	CLIP-seq
MIRT1222376	hsa-miR-4738-3p	CLIP-seq
MIRT1222377	hsa-miR-4742-5p	CLIP-seq
MIRT1222378	hsa-miR-4760-5p	CLIP-seq
MIRT1222379	hsa-miR-4802-5p	CLIP-seq
MIRT1222380	hsa-miR-518a-5p	CLIP-seq
MIRT1222381	hsa-miR-527	CLIP-seq
MIRT1222382	hsa-miR-544	CLIP-seq
MIRT1222383	hsa-miR-548a-3p	CLIP-seq
MIRT1222384	hsa-miR-548e	CLIP-seq
MIRT1222385	hsa-miR-548f	CLIP-seq
MIRT1222386	hsa-miR-561	CLIP-seq
MIRT1222387	hsa-miR-577	CLIP-seq
MIRT1222388	hsa-miR-630	CLIP-seq
MIRT1222389	hsa-miR-876-3p	CLIP-seq
MIRT1222390	hsa-miR-944	CLIP-seq
MIRT2064426	hsa-miR-3156-5p	CLIP-seq
MIRT2064427	hsa-miR-505	CLIP-seq
MIRT2292755	hsa-miR-3145-3p	CLIP-seq
MIRT1222365	hsa-miR-4477a	CLIP-seq
MIRT1222388	hsa-miR-630	CLIP-seq
MIRT2392345	hsa-miR-3976	CLIP-seq
MIRT1222361	hsa-miR-4252	CLIP-seq
MIRT2392346	hsa-miR-4698	CLIP-seq
MIRT2590759	hsa-miR-1202	CLIP-seq
MIRT1222349	hsa-miR-1244	CLIP-seq
MIRT2590760	hsa-miR-1266	CLIP-seq
MIRT2590761	hsa-miR-145	CLIP-seq
MIRT2590762	hsa-miR-1911	CLIP-seq
MIRT2590763	hsa-miR-198	CLIP-seq
MIRT2590764	hsa-miR-3120-3p	CLIP-seq
MIRT1222355	hsa-miR-3140-3p	CLIP-seq
MIRT2292755	hsa-miR-3145-3p	CLIP-seq
MIRT2064426	hsa-miR-3156-5p	CLIP-seq
MIRT2590765	hsa-miR-3198	CLIP-seq
MIRT1222357	hsa-miR-323-5p	CLIP-seq
MIRT2590766	hsa-miR-329	CLIP-seq
MIRT2590767	hsa-miR-338-5p	CLIP-seq
MIRT2590768	hsa-miR-34b	CLIP-seq
MIRT1222346	hsa-miR-34c-3p	CLIP-seq
MIRT1222358	hsa-miR-3620	CLIP-seq
MIRT2590769	hsa-miR-362-3p	CLIP-seq
MIRT2590770	hsa-miR-3664-3p	CLIP-seq
MIRT2590771	hsa-miR-3671	CLIP-seq
MIRT1222359	hsa-miR-370	CLIP-seq
MIRT2590772	hsa-miR-3941	CLIP-seq
MIRT2590773	hsa-miR-3972	CLIP-seq
MIRT2590774	hsa-miR-4272	CLIP-seq
MIRT1222364	hsa-miR-4276	CLIP-seq
MIRT2590775	hsa-miR-4282	CLIP-seq
MIRT2590776	hsa-miR-4309	CLIP-seq
MIRT2590777	hsa-miR-4421	CLIP-seq
MIRT2590778	hsa-miR-4518	CLIP-seq
MIRT2590779	hsa-miR-451b	CLIP-seq
MIRT2590780	hsa-miR-455-3p	CLIP-seq
MIRT2590781	hsa-miR-455-5p	CLIP-seq
MIRT2590782	hsa-miR-4635	CLIP-seq
MIRT2590783	hsa-miR-4661-5p	CLIP-seq
MIRT2590784	hsa-miR-4691-5p	CLIP-seq
MIRT1222370	hsa-miR-4694-5p	CLIP-seq
MIRT1222373	hsa-miR-4715-3p	CLIP-seq
MIRT2590785	hsa-miR-4719	CLIP-seq
MIRT2590786	hsa-miR-4735-5p	CLIP-seq
MIRT1222376	hsa-miR-4738-3p	CLIP-seq
MIRT2590787	hsa-miR-4755-3p	CLIP-seq
MIRT2590788	hsa-miR-4775	CLIP-seq
MIRT2590789	hsa-miR-4776-3p	CLIP-seq
MIRT2590790	hsa-miR-4793-5p	CLIP-seq
MIRT2590791	hsa-miR-4795-3p	CLIP-seq
MIRT1222380	hsa-miR-518a-5p	CLIP-seq
MIRT2590792	hsa-miR-526b	CLIP-seq
MIRT1222381	hsa-miR-527	CLIP-seq
MIRT2590793	hsa-miR-548c-3p	CLIP-seq
MIRT2590794	hsa-miR-550b	CLIP-seq
MIRT2590795	hsa-miR-590-3p	CLIP-seq
MIRT2590796	hsa-miR-603	CLIP-seq
MIRT2590797	hsa-miR-607	CLIP-seq
MIRT2590798	hsa-miR-875-3p	CLIP-seq
MIRT1222389	hsa-miR-876-3p	CLIP-seq
MIRT2590759	hsa-miR-1202	CLIP-seq
MIRT2590760	hsa-miR-1266	CLIP-seq
MIRT2590762	hsa-miR-1911	CLIP-seq
MIRT2590764	hsa-miR-3120-3p	CLIP-seq
MIRT1222355	hsa-miR-3140-3p	CLIP-seq
MIRT2292755	hsa-miR-3145-3p	CLIP-seq
MIRT2064426	hsa-miR-3156-5p	CLIP-seq
MIRT2590765	hsa-miR-3198	CLIP-seq
MIRT1222357	hsa-miR-323-5p	CLIP-seq
MIRT2590766	hsa-miR-329	CLIP-seq
MIRT1222358	hsa-miR-3620	CLIP-seq
MIRT2590769	hsa-miR-362-3p	CLIP-seq
MIRT2590770	hsa-miR-3664-3p	CLIP-seq
MIRT2590771	hsa-miR-3671	CLIP-seq
MIRT1222359	hsa-miR-370	CLIP-seq
MIRT2590772	hsa-miR-3941	CLIP-seq
MIRT2590773	hsa-miR-3972	CLIP-seq
MIRT2590774	hsa-miR-4272	CLIP-seq
MIRT1222364	hsa-miR-4276	CLIP-seq
MIRT2590775	hsa-miR-4282	CLIP-seq
MIRT2590776	hsa-miR-4309	CLIP-seq
MIRT2590777	hsa-miR-4421	CLIP-seq
MIRT2590778	hsa-miR-4518	CLIP-seq
MIRT2590779	hsa-miR-451b	CLIP-seq
MIRT2590783	hsa-miR-4661-5p	CLIP-seq
MIRT2590784	hsa-miR-4691-5p	CLIP-seq
MIRT1222370	hsa-miR-4694-5p	CLIP-seq
MIRT1222373	hsa-miR-4715-3p	CLIP-seq
MIRT2590786	hsa-miR-4735-5p	CLIP-seq
MIRT1222376	hsa-miR-4738-3p	CLIP-seq
MIRT2590787	hsa-miR-4755-3p	CLIP-seq
MIRT2590788	hsa-miR-4775	CLIP-seq
MIRT2590789	hsa-miR-4776-3p	CLIP-seq
MIRT2590790	hsa-miR-4793-5p	CLIP-seq
MIRT2590791	hsa-miR-4795-3p	CLIP-seq
MIRT1222380	hsa-miR-518a-5p	CLIP-seq
MIRT1222381	hsa-miR-527	CLIP-seq
MIRT2590794	hsa-miR-550b	CLIP-seq
MIRT2590795	hsa-miR-590-3p	CLIP-seq
MIRT2590796	hsa-miR-603	CLIP-seq
MIRT2590798	hsa-miR-875-3p	CLIP-seq
MIRT1222389	hsa-miR-876-3p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004722	Function	Protein serine/threonine phosphatase activity	IDA	20801214
GO:0004722	Function	Protein serine/threonine phosphatase activity	IEA
GO:0004741	Function	[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity	IBA
GO:0004741	Function	[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity	IDA	15554715, 15855260
GO:0004741	Function	[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	19184109
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	6293549
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0010510	Process	Regulation of pyruvate decarboxylation to acetyl-CoA	IMP	15855260
GO:0016787	Function	Hydrolase activity	IEA
GO:0035970	Process	Peptidyl-threonine dephosphorylation	IDA	20801214
GO:0043169	Function	Cation binding	IEA
GO:0045253	Component	Pyruvate dehydrogenase (lipoamide) phosphatase complex	NAS	6293549
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
605993	9279	ENSG00000164951

Q9P0J1

Protein name

[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial (PDP 1) (EC 3.1.3.43) (Protein phosphatase 2C) (Pyruvate dehydrogenase phosphatase catalytic subunit 1) (PDPC 1)

Protein function

Mitochondrial enzyme that catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC), thereby stimulating the conversion of pyruvate into acetyl-CoA. {ECO:000

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00481	PP2C	193 → 487	Protein phosphatase 2C	Family

Sequence

MPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKE
NWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPAN
APIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAV
ESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAF
KRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQE
EDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKW
SIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGL
WETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAAT
HLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE

Sequence length

537

Interactions

View interactions

	Reactome
			Regulation of pyruvate dehydrogenase (PDH) complex

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pyruvate dehydrogenase phosphatase deficiency	Pathogenic; Likely pathogenic	rs1554572756, rs267606938, rs1810312864	RCV000004927 RCV000004928 RCV001262122	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDP1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PDP1 (pyruvate dehydrogenase phosphatase catalytic subunit 1)