PDP1 (pyruvate dehydrogenase phosphatase catalytic subunit 1) - Rat Genome Database

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Gene: PDP1 (pyruvate dehydrogenase phosphatase catalytic subunit 1) Homo sapiens
Analyze
Symbol: PDP1
Name: pyruvate dehydrogenase phosphatase catalytic subunit 1
RGD ID: 731545
HGNC Page HGNC
Description: Exhibits protein serine/threonine phosphatase activity. Involved in peptidyl-threonine dephosphorylation. Predicted to localize to mitochondrion. Implicated in obesity and pyruvate decarboxylase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial; FLJ32517; FLJ56179; MGC119646; PDH; PDP; PDP 1; PDPC; PDPC 1; PPM2A; PPM2C; protein phosphatase 2C, magnesium-dependent, catalytic subunit; pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase; pyruvate dehyrogenase phosphatase catalytic subunit 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl893,857,807 - 93,926,068 (+)EnsemblGRCh38hg38GRCh38
GRCh38893,916,923 - 93,926,068 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37894,929,151 - 94,938,296 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,998,338 - 95,007,472 (+)NCBINCBI36hg18NCBI36
Build 34894,998,337 - 95,007,470NCBI
Celera891,115,139 - 91,124,357 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef890,137,033 - 90,146,245 (+)NCBIHuRef
CHM1_1894,969,362 - 94,978,572 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
aripiprazole  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
butanal  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
glucose  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
Monobutylphthalate  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nicotinamide  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium dichromate  (ISO)
tamoxifen  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
topotecan  (ISO)
torcetrapib  (EXP)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:172850   PMID:1327585   PMID:7566098   PMID:7757816   PMID:7782287   PMID:8396421   PMID:8889548   PMID:9651365   PMID:10931946   PMID:11577086   PMID:12477932   PMID:12676647  
PMID:14527413   PMID:14702039   PMID:15489334   PMID:15855260   PMID:16188909   PMID:16344560   PMID:19184109   PMID:20208177   PMID:20801214   PMID:20877624   PMID:21680880   PMID:21873635  
PMID:24486017   PMID:24962578   PMID:25416956   PMID:26186194   PMID:27320910   PMID:27880917   PMID:28148899   PMID:28514442   PMID:29568061   PMID:31536960   PMID:31980649   PMID:32296183  


Genomics

Comparative Map Data
PDP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl893,857,807 - 93,926,068 (+)EnsemblGRCh38hg38GRCh38
GRCh38893,916,923 - 93,926,068 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37894,929,151 - 94,938,296 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,998,338 - 95,007,472 (+)NCBINCBI36hg18NCBI36
Build 34894,998,337 - 95,007,470NCBI
Celera891,115,139 - 91,124,357 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef890,137,033 - 90,146,245 (+)NCBIHuRef
CHM1_1894,969,362 - 94,978,572 (+)NCBICHM1_1
Pdp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39411,958,183 - 11,966,450 (-)NCBIGRCm39mm39
GRCm39 Ensembl411,958,184 - 11,966,452 (-)Ensembl
GRCm38411,958,183 - 11,966,450 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl411,958,184 - 11,966,452 (-)EnsemblGRCm38mm10GRCm38
MGSCv37411,885,332 - 11,893,597 (-)NCBIGRCm37mm9NCBIm37
MGSCv36411,886,958 - 11,893,567 (-)NCBImm8
Celera411,768,969 - 11,777,217 (-)NCBICelera
Cytogenetic Map4A1NCBI
Pdp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2525,446,843 - 25,455,107 (-)NCBI
Rnor_6.0 Ensembl525,577,451 - 25,584,288 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0525,577,593 - 25,584,325 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0530,284,064 - 30,290,681 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4526,234,414 - 26,240,301 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1526,234,515 - 26,241,115 (-)NCBI
Celera524,779,851 - 24,786,537 (-)NCBICelera
Cytogenetic Map5q13NCBI
Pdp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541710,219,595 - 10,228,669 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541710,219,096 - 10,227,483 (+)NCBIChiLan1.0ChiLan1.0
PDP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1892,486,271 - 92,494,714 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl892,486,271 - 92,494,714 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0890,541,269 - 90,550,554 (+)NCBIMhudiblu_PPA_v0panPan3
PDP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12938,783,945 - 38,792,141 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2938,782,418 - 38,789,807 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2938,944,677 - 38,954,347 (+)NCBI
ROS_Cfam_1.02938,987,121 - 38,996,745 (+)NCBI
UMICH_Zoey_3.12939,000,780 - 39,010,581 (+)NCBI
UNSW_CanFamBas_1.02938,995,485 - 39,005,504 (+)NCBI
UU_Cfam_GSD_1.02939,437,281 - 39,447,145 (+)NCBI
Pdp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,775,259 - 40,783,817 (-)NCBI
SpeTri2.0NW_0049365447,008,882 - 7,017,446 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl442,764,432 - 42,777,904 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1442,769,232 - 42,777,936 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2446,190,418 - 46,199,021 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1888,896,049 - 88,905,430 (+)NCBI
ChlSab1.1 Ensembl888,897,030 - 88,903,003 (+)Ensembl
Pdp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247631,356,193 - 1,364,643 (+)NCBI

Position Markers
D8S1599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,936,328 - 94,936,579UniSTSGRCh37
Build 36895,005,504 - 95,005,755RGDNCBI36
Celera891,122,389 - 91,122,640RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,144,277 - 90,144,528UniSTS
GeneMap99-GB4 RH Map8434.36UniSTS
Whitehead-RH Map8550.7UniSTS
Whitehead-YAC Contig Map8 UniSTS
SHGC-24323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,936,451 - 94,936,566UniSTSGRCh37
Build 36895,005,627 - 95,005,742RGDNCBI36
Celera891,122,512 - 91,122,627RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,144,400 - 90,144,515UniSTS
STS-N47861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,938,148 - 94,938,269UniSTSGRCh37
Build 36895,007,324 - 95,007,445RGDNCBI36
Celera891,124,209 - 91,124,330RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,146,097 - 90,146,218UniSTS
GeneMap99-GB4 RH Map8432.59UniSTS
SGC30292  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q22.1UniSTS
GeneMap99-GB4 RH Map8433.93UniSTS
Whitehead-RH Map8541.1UniSTS
NCBI RH Map8942.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3054
Count of miRNA genes:914
Interacting mature miRNAs:1105
Transcripts:ENST00000297598, ENST00000396200, ENST00000517764, ENST00000518107, ENST00000518573, ENST00000518827, ENST00000520614, ENST00000520728, ENST00000521144, ENST00000523021
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 508 1322 922 100 431 40 1594 648 2171 242 1004 1116 72 388 1045 1
Low 1923 1498 787 508 1349 410 2761 1545 1552 176 444 492 101 816 1743 3
Below cutoff 2 166 15 15 167 14 7 5 1 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC084346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF155661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL134195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX249742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM973633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ422289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX099681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA240240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA507397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA769567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB084539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC369809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297598   ⟹   ENSP00000297598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,916,923 - 93,926,068 (+)Ensembl
RefSeq Acc Id: ENST00000396200   ⟹   ENSP00000379503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,916,947 - 93,926,066 (+)Ensembl
RefSeq Acc Id: ENST00000517764   ⟹   ENSP00000430380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,917,747 - 93,923,956 (+)Ensembl
RefSeq Acc Id: ENST00000518107   ⟹   ENSP00000430366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,916,947 - 93,922,289 (+)Ensembl
RefSeq Acc Id: ENST00000518573   ⟹   ENSP00000428433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,917,051 - 93,922,443 (+)Ensembl
RefSeq Acc Id: ENST00000518827   ⟹   ENSP00000430655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,918,910 - 93,922,757 (+)Ensembl
RefSeq Acc Id: ENST00000520614   ⟹   ENSP00000430931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,916,856 - 93,922,275 (+)Ensembl
RefSeq Acc Id: ENST00000520728   ⟹   ENSP00000428317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,916,934 - 93,924,388 (+)Ensembl
RefSeq Acc Id: ENST00000521144   ⟹   ENSP00000429492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,919,879 - 93,922,500 (+)Ensembl
RefSeq Acc Id: ENST00000523021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,857,807 - 93,921,348 (+)Ensembl
RefSeq Acc Id: NM_001161779   ⟹   NP_001155251
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,916,923 - 93,926,068 (+)NCBI
GRCh37894,929,083 - 94,938,296 (+)ENTREZGENE
HuRef890,137,033 - 90,146,245 (+)ENTREZGENE
CHM1_1894,969,454 - 94,978,572 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001161780   ⟹   NP_001155252
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,916,923 - 93,926,068 (+)NCBI
GRCh37894,929,083 - 94,938,296 (+)ENTREZGENE
HuRef890,137,033 - 90,146,245 (+)ENTREZGENE
CHM1_1894,969,441 - 94,978,572 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001161781   ⟹   NP_001155253
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,916,923 - 93,926,068 (+)NCBI
GRCh37894,929,083 - 94,938,296 (+)ENTREZGENE
HuRef890,137,033 - 90,146,245 (+)ENTREZGENE
CHM1_1894,969,558 - 94,978,572 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018444   ⟹   NP_060914
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,916,923 - 93,926,068 (+)NCBI
GRCh37894,929,083 - 94,938,296 (+)ENTREZGENE
Build 36894,998,338 - 95,007,472 (+)NCBI Archive
HuRef890,137,033 - 90,146,245 (+)ENTREZGENE
CHM1_1894,969,362 - 94,978,572 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517135   ⟹   XP_011515437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,917,916 - 93,926,068 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517136   ⟹   XP_011515438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,919,095 - 93,926,068 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013588   ⟹   XP_016869077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,917,554 - 93,926,068 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060914   ⟸   NM_018444
- Peptide Label: isoform 3
- UniProtKB: Q9P0J1 (UniProtKB/Swiss-Prot),   A0A024R9C0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001155252   ⟸   NM_001161780
- Peptide Label: isoform 2
- UniProtKB: Q9P0J1 (UniProtKB/Swiss-Prot),   Q6P1N1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001155251   ⟸   NM_001161779
- Peptide Label: isoform 2
- UniProtKB: Q9P0J1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001155253   ⟸   NM_001161781
- Peptide Label: isoform 3
- UniProtKB: Q9P0J1 (UniProtKB/Swiss-Prot),   A0A024R9C0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515437   ⟸   XM_011517135
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515438   ⟸   XM_011517136
- Peptide Label: isoform X3
- UniProtKB: Q9P0J1 (UniProtKB/Swiss-Prot),   A0A024R9C0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869077   ⟸   XM_017013588
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000430380   ⟸   ENST00000517764
RefSeq Acc Id: ENSP00000430655   ⟸   ENST00000518827
RefSeq Acc Id: ENSP00000430366   ⟸   ENST00000518107
RefSeq Acc Id: ENSP00000428433   ⟸   ENST00000518573
RefSeq Acc Id: ENSP00000297598   ⟸   ENST00000297598
RefSeq Acc Id: ENSP00000428317   ⟸   ENST00000520728
RefSeq Acc Id: ENSP00000430931   ⟸   ENST00000520614
RefSeq Acc Id: ENSP00000429492   ⟸   ENST00000521144
RefSeq Acc Id: ENSP00000379503   ⟸   ENST00000396200
Protein Domains
PPM-type phosphatase

Promoters
RGD ID:7213763
Promoter ID:EPDNEW_H12627
Type:initiation region
Name:PDP1_1
Description:pyruvate dehyrogenase phosphatase catalytic subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12626  EPDNEW_H12628  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,916,926 - 93,916,986EPDNEW
RGD ID:7213765
Promoter ID:EPDNEW_H12628
Type:initiation region
Name:PDP1_2
Description:pyruvate dehyrogenase phosphatase catalytic subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12626  EPDNEW_H12627  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,917,836 - 93,917,896EPDNEW
RGD ID:6806941
Promoter ID:HG_KWN:61713
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_001161779,   NM_001161781,   UC003YGE.1,   UC003YGF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36894,997,811 - 94,998,492 (+)MPROMDB
RGD ID:6806971
Promoter ID:HG_KWN:61714
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid,   NB4
Transcripts:UC003YGG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36894,998,266 - 94,999,117 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018444.4(PDP1):c.851_853del (p.Leu284del) deletion Pyruvate dehydrogenase phosphatase deficiency [RCV000004927] Chr8:93922909..93922911 [GRCh38]
Chr8:94935137..94935139 [GRCh37]
Chr8:8q22.1
pathogenic
NM_018444.4(PDP1):c.277G>T (p.Glu93Ter) single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000004928] Chr8:93922336 [GRCh38]
Chr8:94934564 [GRCh37]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 copy number loss See cases [RCV000054265] Chr8:92283179..95786443 [GRCh38]
Chr8:93295407..96798671 [GRCh37]
Chr8:93364583..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 copy number loss See cases [RCV000054277] Chr8:92287062..95786443 [GRCh38]
Chr8:93299290..96798671 [GRCh37]
Chr8:93368466..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
NM_018444.3(PDP1):c.421G>A (p.Gly141Arg) single nucleotide variant Malignant melanoma [RCV000061837] Chr8:93922480 [GRCh38]
Chr8:94934708 [GRCh37]
Chr8:95003884 [NCBI36]
Chr8:8q22.1
not provided
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_018444.4(PDP1):c.906C>T (p.Asp302=) single nucleotide variant not provided [RCV000886993]|not specified [RCV000127433] Chr8:93922965 [GRCh38]
Chr8:94935193 [GRCh37]
Chr8:8q22.1
benign|uncertain significance
NM_018444.4(PDP1):c.1431C>T (p.Asn477=) single nucleotide variant not specified [RCV000127434] Chr8:93923490 [GRCh38]
Chr8:94935718 [GRCh37]
Chr8:8q22.1
benign|uncertain significance
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 copy number loss See cases [RCV000136519] Chr8:93038175..95667782 [GRCh38]
Chr8:94050403..96680010 [GRCh37]
Chr8:94119579..96749186 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
Single allele single nucleotide variant not specified [RCV000197797] Chr8:8q22.1 likely benign
NM_018444.4(PDP1):c.-45+732_-45+733insGCCGCCGCCTCCTC insertion not specified [RCV000198704] Chr8:93917811..93917812 [GRCh38]
Chr8:94930039..94930040 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001161778.1(PDP1):c.305G>A single nucleotide variant not specified [RCV000195933] Chr8:8q22.1 likely benign
Single allele single nucleotide variant not specified [RCV000196163] Chr8:8q22.1 uncertain significance
Single allele single nucleotide variant not specified [RCV000199743] Chr8:8q22.1 likely benign
Single allele single nucleotide variant not specified [RCV000199963] Chr8:8q22.1 uncertain significance
NM_018444.4(PDP1):c.418T>C (p.Leu140=) single nucleotide variant not specified [RCV000604687] Chr8:93922477 [GRCh38]
Chr8:94934705 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.*1324G>A single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000321907] Chr8:93924997 [GRCh38]
Chr8:94937225 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*566T>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000395144] Chr8:93924239 [GRCh38]
Chr8:94936467 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*49C>A single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000345926] Chr8:93923722 [GRCh38]
Chr8:94935950 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1091A>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000323242] Chr8:93924764 [GRCh38]
Chr8:94936992 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.717C>G (p.Ala239=) single nucleotide variant not provided [RCV000881027]|not specified [RCV000421463] Chr8:93922776 [GRCh38]
Chr8:94935004 [GRCh37]
Chr8:8q22.1
benign|likely benign|uncertain significance
NM_018444.4(PDP1):c.*1807T>A single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000398192] Chr8:93925480 [GRCh38]
Chr8:94937708 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1487A>T single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000325462] Chr8:93925160 [GRCh38]
Chr8:94937388 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*368C>G single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000306423] Chr8:93924041 [GRCh38]
Chr8:94936269 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.-67C>A single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000376014] Chr8:93917057 [GRCh38]
Chr8:94929285 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.1446C>T (p.Leu482=) single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000376162] Chr8:93923505 [GRCh38]
Chr8:94935733 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*491T>G single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000351892] Chr8:93924164 [GRCh38]
Chr8:94936392 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*886C>T single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000353612] Chr8:93924559 [GRCh38]
Chr8:94936787 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*36T>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000291077] Chr8:93923709 [GRCh38]
Chr8:94935937 [GRCh37]
Chr8:8q22.1
benign
NM_018444.4(PDP1):c.*1409G>A single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000291476] Chr8:93925082 [GRCh38]
Chr8:94937310 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.-142G>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000330617] Chr8:93916982 [GRCh38]
Chr8:94929210 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1799G>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000354258] Chr8:93925472 [GRCh38]
Chr8:94937700 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1661del deletion Pyruvate dehydrogenase phosphatase deficiency [RCV000401886] Chr8:93925322 [GRCh38]
Chr8:94937550 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1564C>A single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000382137] Chr8:93925237 [GRCh38]
Chr8:94937465 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1664G>A single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000403873] Chr8:93925337 [GRCh38]
Chr8:94937565 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*592A>G single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000312361] Chr8:93924265 [GRCh38]
Chr8:94936493 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*51G>T single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000405715] Chr8:93923724 [GRCh38]
Chr8:94935952 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.*1609A>G single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000295004] Chr8:93925282 [GRCh38]
Chr8:94937510 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.128G>C (p.Arg43Pro) single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000262714] Chr8:93922187 [GRCh38]
Chr8:94934415 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1113T>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000361529] Chr8:93924786 [GRCh38]
Chr8:94937014 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1736G>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000296934] Chr8:93925409 [GRCh38]
Chr8:94937637 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.*1127T>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000264589] Chr8:93924800 [GRCh38]
Chr8:94937028 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.546C>T (p.Ser182=) single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000317664] Chr8:93922605 [GRCh38]
Chr8:94934833 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*631G>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000367070] Chr8:93924304 [GRCh38]
Chr8:94936532 [GRCh37]
Chr8:8q22.1
benign
NM_018444.4(PDP1):c.*1961G>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000271837] Chr8:93925634 [GRCh38]
Chr8:94937862 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*898_*900CTT[1] microsatellite Pyruvate dehydrogenase phosphatase deficiency [RCV000261046] Chr8:93924571..93924573 [GRCh38]
Chr8:94936799..94936801 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*2299A>G single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000362865] Chr8:93925972 [GRCh38]
Chr8:94938200 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1649_*1650insG insertion Pyruvate dehydrogenase phosphatase deficiency [RCV000293390] Chr8:93925322..93925323 [GRCh38]
Chr8:94937550..94937551 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1370A>G single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000383432] Chr8:93925043 [GRCh38]
Chr8:94937271 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1844A>C single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000305332] Chr8:93925517 [GRCh38]
Chr8:94937745 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1651T>G single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000336745] Chr8:93925324 [GRCh38]
Chr8:94937552 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*1612G>A single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000352218] Chr8:93925285 [GRCh38]
Chr8:94937513 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.3(PDP1):c.-273T>A single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000367981] Chr8:93916851 [GRCh38]
Chr8:94929079 [GRCh37]
Chr8:8q22.1
benign
NM_018444.4(PDP1):c.*1957G>T single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000357780] Chr8:93925630 [GRCh38]
Chr8:94937858 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*724del deletion Pyruvate dehydrogenase phosphatase deficiency [RCV000395149] Chr8:93924391 [GRCh38]
Chr8:94936619 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*743C>T single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000301155] Chr8:93924416 [GRCh38]
Chr8:94936644 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.*2133G>A single nucleotide variant Pyruvate dehydrogenase phosphatase deficiency [RCV000329193] Chr8:93925806 [GRCh38]
Chr8:94938034 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.-45+155C>T single nucleotide variant not specified [RCV000604107] Chr8:93917234 [GRCh38]
Chr8:94929462 [GRCh37]
Chr8:8q22.1
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_018444.4(PDP1):c.1263G>A (p.Trp421Ter) single nucleotide variant not provided [RCV000425732] Chr8:93923322 [GRCh38]
Chr8:94935550 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_018444.4(PDP1):c.467_547delinsCT (p.Ser156fs) indel not provided [RCV000484874] Chr8:93922526..93922606 [GRCh38]
Chr8:94934754..94934834 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_018444.4(PDP1):c.87C>T (p.His29=) single nucleotide variant not specified [RCV000606231] Chr8:93922146 [GRCh38]
Chr8:94934374 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.261C>T (p.Ser87=) single nucleotide variant not specified [RCV000613336] Chr8:93922320 [GRCh38]
Chr8:94934548 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.1434A>G (p.Ala478=) single nucleotide variant not provided [RCV000953583]|not specified [RCV000610900] Chr8:93923493 [GRCh38]
Chr8:94935721 [GRCh37]
Chr8:8q22.1
likely benign
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1 copy number loss See cases [RCV000512300] Chr8:93391781..96572606 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_018444.4(PDP1):c.1597T>C (p.Tyr533His) single nucleotide variant not provided [RCV000677085] Chr8:93923656 [GRCh38]
Chr8:94935884 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_018444.4(PDP1):c.681G>A (p.Ser227=) single nucleotide variant not provided [RCV000919166] Chr8:93922740 [GRCh38]
Chr8:94934968 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.1011C>T (p.Val337=) single nucleotide variant not provided [RCV000977259] Chr8:93923070 [GRCh38]
Chr8:94935298 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.1596G>A (p.Ala532=) single nucleotide variant not provided [RCV000907020] Chr8:93923655 [GRCh38]
Chr8:94935883 [GRCh37]
Chr8:8q22.1
benign
NM_018444.4(PDP1):c.855T>C (p.His285=) single nucleotide variant not provided [RCV000927222] Chr8:93922914 [GRCh38]
Chr8:94935142 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.171G>A (p.Arg57=) single nucleotide variant not provided [RCV000940606] Chr8:93922230 [GRCh38]
Chr8:94934458 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.870C>T (p.Gly290=) single nucleotide variant not provided [RCV000810394] Chr8:93922929 [GRCh38]
Chr8:94935157 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.-44-114A>G single nucleotide variant not provided [RCV000836388] Chr8:93921902 [GRCh38]
Chr8:94934130 [GRCh37]
Chr8:8q22.1
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_018444.4(PDP1):c.-45+358G>A single nucleotide variant not provided [RCV000833038] Chr8:93917437 [GRCh38]
Chr8:94929665 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.-80C>T single nucleotide variant not provided [RCV000840112] Chr8:93917044 [GRCh38]
Chr8:94929272 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.993G>A (p.Lys331=) single nucleotide variant not provided [RCV000920704] Chr8:93923052 [GRCh38]
Chr8:94935280 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.263T>C (p.Ile88Thr) single nucleotide variant not provided [RCV001058749] Chr8:93922322 [GRCh38]
Chr8:94934550 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg) single nucleotide variant not provided [RCV001225413] Chr8:93923414 [GRCh38]
Chr8:94935642 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q22.1(chr8:94810526-95397957)x4 copy number gain not provided [RCV001006121] Chr8:94810526..95397957 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.1029G>C (p.Leu343=) single nucleotide variant not provided [RCV000909939] Chr8:93923088 [GRCh38]
Chr8:94935316 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.909C>T (p.Gly303=) single nucleotide variant not provided [RCV000907350] Chr8:93922968 [GRCh38]
Chr8:94935196 [GRCh37]
Chr8:8q22.1
benign
NM_018444.4(PDP1):c.1341T>G (p.Ala447=) single nucleotide variant not provided [RCV000912180] Chr8:93923400 [GRCh38]
Chr8:94935628 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.1456G>A (p.Ala486Thr) single nucleotide variant not provided [RCV001045379] Chr8:93923515 [GRCh38]
Chr8:94935743 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.1558A>G (p.Ile520Val) single nucleotide variant not specified [RCV000197797] Chr8:93923617 [GRCh38]
Chr8:94935845 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.1284T>A (p.Asp428Glu) single nucleotide variant not provided [RCV001301541] Chr8:93923343 [GRCh38]
Chr8:94935571 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.1095A>G (p.Gln365=) single nucleotide variant not provided [RCV001310636] Chr8:93923154 [GRCh38]
Chr8:94935382 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.500dup (p.Leu167fs) duplication Pyruvate dehydrogenase phosphatase deficiency [RCV001262122] Chr8:93922556..93922557 [GRCh38]
Chr8:94934784..94934785 [GRCh37]
Chr8:8q22.1
pathogenic
NM_018444.4(PDP1):c.1595C>T (p.Ala532Val) single nucleotide variant not specified [RCV000199743] Chr8:93923654 [GRCh38]
Chr8:94935882 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.328C>G (p.Leu110Val) single nucleotide variant not specified [RCV000199963] Chr8:93922387 [GRCh38]
Chr8:94934615 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.128G>A (p.Arg43Gln) single nucleotide variant not specified [RCV000195933] Chr8:93922187 [GRCh38]
Chr8:94934415 [GRCh37]
Chr8:8q22.1
likely benign
NM_018444.4(PDP1):c.926C>T (p.Thr309Met) single nucleotide variant not provided [RCV001318999] Chr8:93922985 [GRCh38]
Chr8:94935213 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.1281G>C (p.Gln427His) single nucleotide variant not provided [RCV001304411] Chr8:93923340 [GRCh38]
Chr8:94935568 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_018444.4(PDP1):c.1274A>G (p.His425Arg) single nucleotide variant not provided [RCV001348788] Chr8:93923333 [GRCh38]
Chr8:94935561 [GRCh37]
Chr8:8q22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9279 AgrOrtholog
COSMIC PDP1 COSMIC
Ensembl Genes ENSG00000164951 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000297598 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379503 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428317 UniProtKB/Swiss-Prot
  ENSP00000428433 UniProtKB/TrEMBL
  ENSP00000429492 UniProtKB/TrEMBL
  ENSP00000430366 UniProtKB/TrEMBL
  ENSP00000430380 UniProtKB/Swiss-Prot
  ENSP00000430655 UniProtKB/TrEMBL
  ENSP00000430931 UniProtKB/TrEMBL
Ensembl Transcript ENST00000297598 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396200 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517764 UniProtKB/Swiss-Prot
  ENST00000518107 UniProtKB/TrEMBL
  ENST00000518573 UniProtKB/TrEMBL
  ENST00000518827 UniProtKB/TrEMBL
  ENST00000520614 UniProtKB/TrEMBL
  ENST00000520728 UniProtKB/Swiss-Prot
  ENST00000521144 UniProtKB/TrEMBL
Gene3D-CATH 3.60.40.10 UniProtKB/TrEMBL
GTEx ENSG00000164951 GTEx
HGNC ID HGNC:9279 ENTREZGENE
Human Proteome Map PDP1 Human Proteome Map
InterPro PP2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2C_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPM-type_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPM-type_phosphatase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54704 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54704 ENTREZGENE
OMIM 605993 OMIM
  608782 OMIM
PANTHER PTHR13832 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PP2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33607 PharmGKB
PROSITE PPM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PP2Cc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81606 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9C0 ENTREZGENE, UniProtKB/TrEMBL
  E5RFL8_HUMAN UniProtKB/TrEMBL
  E5RHB9_HUMAN UniProtKB/TrEMBL
  E5RI96_HUMAN UniProtKB/TrEMBL
  E5RIE5_HUMAN UniProtKB/TrEMBL
  E5RIV4_HUMAN UniProtKB/TrEMBL
  PDP1_HUMAN UniProtKB/Swiss-Prot
  Q6P1N1 ENTREZGENE, UniProtKB/TrEMBL
  Q9P0J1 ENTREZGENE
UniProt Secondary B3KX71 UniProtKB/Swiss-Prot
  J3KPU0 UniProtKB/Swiss-Prot
  Q5U5K1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-02-15 PDP1  pyruvate dehydrogenase phosphatase catalytic subunit 1  PDP1  pyruvate dehyrogenase phosphatase catalytic subunit 1  Symbol and/or name change 19259463 PROVISIONAL