MDH1 (malate dehydrogenase 1) - Rat Genome Database
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Gene: MDH1 (malate dehydrogenase 1) Homo sapiens
Analyze
Symbol: MDH1
Name: malate dehydrogenase 1
RGD ID: 732327
HGNC Page HGNC
Description: Predicted to have malic enzyme activity. Predicted to be involved in gluconeogenesis. Localizes to centrosome and cytosol. Implicated in early infantile epileptic encephalopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cytosolic malate dehydrogenase; DEE88; diiodophenylpyruvate reductase; EIEE88; epididymis secretory protein Li 32; HEL-S-32; malate dehydrogenase 1, NAD (soluble); malate dehydrogenase, cytoplasmic; malate dehydrogenase, peroxisomal; MDH-s; MDHA; MGC:1375; MOR2; soluble malate dehydrogenase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MDH1P1   MDH1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl263,588,609 - 63,607,197 (+)EnsemblGRCh38hg38GRCh38
GRCh38263,588,963 - 63,607,197 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37263,816,097 - 63,834,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36263,669,626 - 63,687,832 (+)NCBINCBI36hg18NCBI36
Build 34263,727,772 - 63,745,979NCBI
Celera263,661,163 - 63,679,336 (+)NCBI
Cytogenetic Map2p15NCBI
HuRef263,556,773 - 63,575,326 (+)NCBIHuRef
CHM1_1263,745,880 - 63,764,431 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,5-hexanedione  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
7H-xanthine  (ISO)
8-Br-cAMP  (EXP)
9H-xanthine  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (EXP,ISO)
ammonium chloride  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
choline  (ISO)
chromium trinitrate  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cocaine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
CU-O LINKAGE  (ISO)
cyclosporin A  (EXP)
D-gluconic acid  (ISO)
D-glucose  (EXP,ISO)
deoxycholic acid  (ISO)
Deoxycorticosterone acetate  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dihydroartemisinin  (EXP)
dinophysistoxin 1  (EXP)
dioscin  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gentamycin  (ISO)
glucose  (EXP,ISO)
hydrogen peroxide  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
leflunomide  (ISO)
malic acid  (EXP)
menthofuran  (ISO)
miconazole  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
obeticholic acid  (EXP)
oxaloacetic acid  (EXP)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
potassium chloride  (ISO)
potassium chromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
T-2 toxin  (ISO)
tetrachloromethane  (ISO)
theophylline  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

Additional References at PubMed
PMID:2449162   PMID:2775751   PMID:3052244   PMID:7151307   PMID:7698769   PMID:7895732   PMID:8786100   PMID:9799840   PMID:10075524   PMID:10190973   PMID:11726686   PMID:12477932  
PMID:15489334   PMID:15565635   PMID:15815621   PMID:16027165   PMID:16049007   PMID:16169070   PMID:16263121   PMID:17500595   PMID:18029348   PMID:18996102   PMID:19056867   PMID:19110265  
PMID:19229245   PMID:20011630   PMID:20029029   PMID:20602615   PMID:20877624   PMID:21044950   PMID:21565611   PMID:21873635   PMID:21988832   PMID:22020285   PMID:22360420   PMID:22496890  
PMID:22664934   PMID:22693256   PMID:22939629   PMID:23376485   PMID:23503661   PMID:23533145   PMID:25281560   PMID:25340584   PMID:25921289   PMID:26344197   PMID:26465331   PMID:26831064  
PMID:27342126   PMID:27576135   PMID:27840030   PMID:27881739   PMID:28263970   PMID:28298427   PMID:28515276   PMID:28581483   PMID:29117863   PMID:29574159   PMID:29715546   PMID:30021884  
PMID:30575818   PMID:30711629   PMID:30833792   PMID:30948266   PMID:31046837   PMID:31091453   PMID:31300519   PMID:31478661   PMID:31536960   PMID:31538237   PMID:31795176   PMID:31796584  
PMID:31980649   PMID:32416067  


Genomics

Comparative Map Data
MDH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl263,588,609 - 63,607,197 (+)EnsemblGRCh38hg38GRCh38
GRCh38263,588,963 - 63,607,197 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37263,816,097 - 63,834,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36263,669,626 - 63,687,832 (+)NCBINCBI36hg18NCBI36
Build 34263,727,772 - 63,745,979NCBI
Celera263,661,163 - 63,679,336 (+)NCBI
Cytogenetic Map2p15NCBI
HuRef263,556,773 - 63,575,326 (+)NCBIHuRef
CHM1_1263,745,880 - 63,764,431 (+)NCBICHM1_1
Mdh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391121,506,692 - 21,521,934 (-)NCBIGRCm39mm39
GRCm39 Ensembl1121,506,692 - 21,522,367 (-)Ensembl
GRCm381121,556,692 - 21,571,934 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1121,556,692 - 21,572,367 (-)EnsemblGRCm38mm10GRCm38
MGSCv371121,456,695 - 21,471,937 (-)NCBIGRCm37mm9NCBIm37
MGSCv361121,456,790 - 21,471,832 (-)NCBImm8
Celera1123,704,959 - 23,720,201 (-)NCBICelera
Cytogenetic Map11A3.1NCBI
cM Map1113.89NCBI
Mdh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21495,630,625 - 95,645,920 (-)NCBI
Rnor_6.0 Ensembl14106,378,942 - 106,393,670 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.014106,378,349 - 106,393,642 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.014106,449,337 - 106,463,995 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.414102,259,130 - 102,273,788 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.114102,278,343 - 102,292,999 (-)NCBI
Celera1494,639,971 - 94,655,156 (-)NCBICelera
Cytogenetic Map14q22NCBI
Mdh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542420,706,058 - 20,723,493 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542420,707,765 - 20,723,493 (-)NCBIChiLan1.0ChiLan1.0
MDH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A64,785,132 - 64,803,631 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A64,785,132 - 64,803,631 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A63,658,933 - 63,677,257 (+)NCBIMhudiblu_PPA_v0panPan3
MDH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1063,316,831 - 63,361,735 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11063,316,818 - 63,334,556 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mdh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364918,570,472 - 8,586,914 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MDH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl378,244,999 - 78,440,488 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1378,247,229 - 78,263,085 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2382,274,663 - 82,280,460 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MDH1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11443,406,502 - 43,425,525 (-)NCBI
ChlSab1.1 Ensembl1443,406,499 - 43,425,095 (-)Ensembl
Mdh1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247629,884,521 - 9,900,593 (-)NCBI

Position Markers
G59582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37263,825,840 - 63,825,973UniSTSGRCh37
Build 36263,679,344 - 63,679,477RGDNCBI36
Celera263,670,881 - 63,671,014RGD
Cytogenetic Map2p13.3UniSTS
HuRef263,566,870 - 63,567,003UniSTS
TNG Radiation Hybrid Map240049.0UniSTS
D2S1567E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37263,833,104 - 63,834,025UniSTSGRCh37
Build 36263,686,608 - 63,687,529RGDNCBI36
Celera263,678,112 - 63,679,033RGD
Cytogenetic Map2p13.3UniSTS
HuRef263,574,099 - 63,575,020UniSTS
RH16368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37263,825,759 - 63,825,896UniSTSGRCh37
Build 36263,679,263 - 63,679,400RGDNCBI36
Celera263,670,800 - 63,670,937RGD
Cytogenetic Map2p13.3UniSTS
HuRef263,566,789 - 63,566,926UniSTS
GeneMap99-GB4 RH Map2198.25UniSTS
MDH1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37263,826,324 - 63,826,423UniSTSGRCh37
Build 36263,679,828 - 63,679,927RGDNCBI36
Celera263,671,365 - 63,671,464RGD
HuRef263,567,354 - 63,567,453UniSTS
WIAF-2167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37263,825,789 - 63,826,005UniSTSGRCh37
Build 36263,679,293 - 63,679,509RGDNCBI36
Celera263,670,830 - 63,671,046RGD
Cytogenetic Map2p13.3UniSTS
HuRef263,566,819 - 63,567,035UniSTS
GeneMap99-GB4 RH Map2202.66UniSTS
NCBI RH Map2349.4UniSTS
SHGC-31543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37263,834,131 - 63,834,310UniSTSGRCh37
Build 36263,687,635 - 63,687,814RGDNCBI36
Celera263,679,139 - 63,679,318RGD
Cytogenetic Map2p13.3UniSTS
HuRef263,575,126 - 63,575,305UniSTS
TNG Radiation Hybrid Map240053.0UniSTS
Stanford-G3 RH Map22551.0UniSTS
GeneMap99-GB4 RH Map2194.04UniSTS
Whitehead-RH Map2266.0UniSTS
NCBI RH Map2349.4UniSTS
GeneMap99-G3 RH Map22508.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1352
Count of miRNA genes:783
Interacting mature miRNAs:884
Transcripts:ENST00000233114, ENST00000394423, ENST00000409476, ENST00000409908, ENST00000421012, ENST00000432309, ENST00000436321, ENST00000442225, ENST00000454035, ENST00000462944, ENST00000472098, ENST00000484538, ENST00000485155, ENST00000485781, ENST00000495083, ENST00000539945, ENST00000544381
Prediction methods:Microtar, Miranda, Rnahybrid
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 2 2 1
Medium 2439 2758 1723 622 1735 463 4357 2178 3727 413 1458 1612 175 1 1204 2788 6 2
Low 231 3 2 216 2 17 7 6 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001316374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI667299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB266998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D55654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U20352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000233114   ⟹   ENSP00000233114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,963 - 63,607,197 (+)Ensembl
RefSeq Acc Id: ENST00000409476   ⟹   ENSP00000386719
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,973 - 63,607,091 (+)Ensembl
RefSeq Acc Id: ENST00000409908   ⟹   ENSP00000386743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,958 - 63,607,091 (+)Ensembl
RefSeq Acc Id: ENST00000421012   ⟹   ENSP00000400937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,589,325 - 63,604,810 (+)Ensembl
RefSeq Acc Id: ENST00000432309   ⟹   ENSP00000410073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,589,151 - 63,604,810 (+)Ensembl
RefSeq Acc Id: ENST00000436321   ⟹   ENSP00000394504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,982 - 63,599,288 (+)Ensembl
RefSeq Acc Id: ENST00000442225   ⟹   ENSP00000399004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,963 - 63,595,519 (+)Ensembl
RefSeq Acc Id: ENST00000454035   ⟹   ENSP00000409027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,997 - 63,597,538 (+)Ensembl
RefSeq Acc Id: ENST00000462944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,985 - 63,590,974 (+)Ensembl
RefSeq Acc Id: ENST00000472098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,998 - 63,598,186 (+)Ensembl
RefSeq Acc Id: ENST00000484538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,597,548 - 63,600,052 (+)Ensembl
RefSeq Acc Id: ENST00000485155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,979 - 63,594,990 (+)Ensembl
RefSeq Acc Id: ENST00000485781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,609 - 63,597,657 (+)Ensembl
RefSeq Acc Id: ENST00000495083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,605,810 - 63,607,194 (+)Ensembl
RefSeq Acc Id: ENST00000539945   ⟹   ENSP00000438144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,963 - 63,607,197 (+)Ensembl
RefSeq Acc Id: ENST00000544381   ⟹   ENSP00000446395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl263,588,609 - 63,607,194 (+)Ensembl
RefSeq Acc Id: NM_001199111   ⟹   NP_001186040
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38263,589,146 - 63,607,197 (+)NCBI
GRCh37263,815,743 - 63,834,331 (+)ENTREZGENE
HuRef263,556,773 - 63,575,326 (+)ENTREZGENE
CHM1_1263,746,422 - 63,764,431 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199112   ⟹   NP_001186041
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38263,589,146 - 63,607,197 (+)NCBI
GRCh37263,815,743 - 63,834,331 (+)ENTREZGENE
HuRef263,556,773 - 63,575,326 (+)ENTREZGENE
CHM1_1263,746,422 - 63,764,431 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001316374   ⟹   NP_001303303
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38263,588,963 - 63,607,197 (+)NCBI
CHM1_1263,745,880 - 63,764,431 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005917   ⟹   NP_005908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38263,588,963 - 63,607,197 (+)NCBI
GRCh37263,815,743 - 63,834,331 (+)ENTREZGENE
Build 36263,669,626 - 63,687,832 (+)NCBI Archive
HuRef263,556,773 - 63,575,326 (+)ENTREZGENE
CHM1_1263,745,880 - 63,764,431 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005908   ⟸   NM_005917
- Peptide Label: isoform MDH1
- UniProtKB: P40925 (UniProtKB/Swiss-Prot),   V9HWF2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186040   ⟸   NM_001199111
- Peptide Label: isoform 2
- UniProtKB: P40925 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186041   ⟸   NM_001199112
- Peptide Label: isoform 3
- UniProtKB: P40925 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001303303   ⟸   NM_001316374
- Peptide Label: isoform MDH1x
- UniProtKB: P40925 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000446395   ⟸   ENST00000544381
RefSeq Acc Id: ENSP00000409027   ⟸   ENST00000454035
RefSeq Acc Id: ENSP00000399004   ⟸   ENST00000442225
RefSeq Acc Id: ENSP00000233114   ⟸   ENST00000233114
RefSeq Acc Id: ENSP00000410073   ⟸   ENST00000432309
RefSeq Acc Id: ENSP00000438144   ⟸   ENST00000539945
RefSeq Acc Id: ENSP00000386743   ⟸   ENST00000409908
RefSeq Acc Id: ENSP00000386719   ⟸   ENST00000409476
RefSeq Acc Id: ENSP00000400937   ⟸   ENST00000421012
RefSeq Acc Id: ENSP00000394504   ⟸   ENST00000436321
Protein Domains
Ldh_1_C   Ldh_1_N

Promoters
RGD ID:6860448
Promoter ID:EPDNEW_H3389
Type:initiation region
Name:MDH1_1
Description:malate dehydrogenase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38263,588,963 - 63,589,023EPDNEW
RGD ID:6797151
Promoter ID:HG_KWN:32900
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409476,   ENST00000409908,   OTTHUMT00000251687,   OTTHUMT00000326984,   OTTHUMT00000326985,   OTTHUMT00000326986,   OTTHUMT00000326987,   OTTHUMT00000326988,   OTTHUMT00000326989,   OTTHUMT00000326990,   OTTHUMT00000326993,   UC010FCS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36263,669,226 - 63,669,726 (+)MPROMDB
RGD ID:6851274
Promoter ID:EP73435
Type:initiation region
Name:HS_MDH1
Description:Malate dehydrogenase 1, NAD (soluble).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36263,669,617 - 63,669,677EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1 copy number loss See cases [RCV000054022] Chr2:58873039..64190332 [GRCh38]
Chr2:59100174..64417466 [GRCh37]
Chr2:58953678..64270970 [NCBI36]
Chr2:2p16.1-14
pathogenic
GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1 copy number loss See cases [RCV000054054] Chr2:63311999..67309291 [GRCh38]
Chr2:63539134..67536423 [GRCh37]
Chr2:63392638..67389927 [NCBI36]
Chr2:2p15-14
pathogenic
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1 copy number loss See cases [RCV000143007] Chr2:58031916..63611810 [GRCh38]
Chr2:58259051..63838944 [GRCh37]
Chr2:58112555..63692448 [NCBI36]
Chr2:2p16.1-15
pathogenic
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p15-14(chr2:63234780-67908846)x1 copy number loss See cases [RCV000511763] Chr2:63234780..67908846 [GRCh37]
Chr2:2p15-14
pathogenic
GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1 copy number loss See cases [RCV000511169] Chr2:61701437..65731084 [GRCh37]
Chr2:2p15-14
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p15-14(chr2:63536353-65793944)x1 copy number loss not provided [RCV000848078] Chr2:63536353..65793944 [GRCh37]
Chr2:2p15-14
pathogenic
NM_005917.4(MDH1):c.359C>T (p.Ala120Val) single nucleotide variant Developmental and epileptic encephalopathy, 88 [RCV001250130] Chr2:63597558 [GRCh38]
Chr2:63824692 [GRCh37]
Chr2:2p15
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6970 AgrOrtholog
COSMIC MDH1 COSMIC
Ensembl Genes ENSG00000014641 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000233114 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386719 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000386743 UniProtKB/TrEMBL
  ENSP00000394504 UniProtKB/TrEMBL
  ENSP00000399004 UniProtKB/TrEMBL
  ENSP00000400937 UniProtKB/TrEMBL
  ENSP00000409027 UniProtKB/TrEMBL
  ENSP00000410073 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000438144 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000446395 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000233114 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409476 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000409908 UniProtKB/TrEMBL
  ENST00000421012 UniProtKB/TrEMBL
  ENST00000432309 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000436321 UniProtKB/TrEMBL
  ENST00000442225 UniProtKB/TrEMBL
  ENST00000454035 UniProtKB/TrEMBL
  ENST00000539945 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000544381 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000014641 GTEx
HGNC ID HGNC:6970 ENTREZGENE
Human Proteome Map MDH1 Human Proteome Map
InterPro L-lactate/malate_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lactate/malate_DH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lactate/malate_DH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lactate_DH/Glyco_Ohase_4_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malate_DH_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malate_DH_NAD-dep_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malate_DH_type2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4190 ENTREZGENE
OMIM 154200 OMIM
  618959 OMIM
PANTHER PTHR23382 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ldh_1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldh_1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30714 PharmGKB
PIRSF Lac_mal_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56327 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs MalateDH-SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MDH_euk_cyt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5K1VW95_HUMAN UniProtKB/TrEMBL
  B8ZZ51_HUMAN UniProtKB/TrEMBL
  B9A041_HUMAN UniProtKB/TrEMBL
  C9IZI0_HUMAN UniProtKB/TrEMBL
  C9JF79_HUMAN UniProtKB/TrEMBL
  C9JLV6_HUMAN UniProtKB/TrEMBL
  C9JRL4_HUMAN UniProtKB/TrEMBL
  F8WFC2_HUMAN UniProtKB/TrEMBL
  MDHC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9HWF2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R5V5 UniProtKB/Swiss-Prot
  B4DUN2 UniProtKB/Swiss-Prot
  B7Z3I7 UniProtKB/Swiss-Prot
  F5H098 UniProtKB/Swiss-Prot
  Q6I9V0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 MDH1  malate dehydrogenase 1    malate dehydrogenase 1, NAD (soluble)  Symbol and/or name change 5135510 APPROVED