MitoProteome Database

MT001686

Record overview

MITO ID	MT001686
Gene ID	728294
Species	Homo sapiens (Human)
Gene Name	D-2-hydroxyglutarate dehydrogenase
Gene Symbol	D2HGDH
Synonyms	D2HGD;
Alternate names	D-2-hydroxyglutarate dehydrogenase, mitochondrial;
Chromosome	2
Map Location	2q37.3
EC Number	1.1.99.-
Summary	This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
Orthologs	View orthologs and multiple alignments for D2HGDH

Proteins

D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor

Refseq ID:	NP_689996
Protein GI:	119964728
UniProt ID:	Q8N465
mRNA ID:	NM_152783
Length:	521
RefSeq Status:

MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFSTVSKQDLAAFERIVPGGVVTDPEALQAPNVDWLRTLRGCS
KVLLRPRTSEEVSHILRHCHERNLAVNPQGGNTGMVGGSVPVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHI
GGNVATNAGGLRFLRYGSLHGTVLGLEVVLADGTVLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVNVAFLGCPGFAEVLQTFSTCK
GMLGEILSAFEFMDAVCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHDAEKLGHFLEHALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVY
KYDLSLPVERLYDIVTDLRARLGPHAKHVVGYGHLGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSKPPGALQLMQQ
LKALLDPKGILNPYKTLPSQA

N
transit_peptide: 1..13
inference: non-experimental evidence, no additional details recorded
note: Mitochondrion (Potential); propagated from UniProtKB/Swiss-Prot (Q8N465.3)
calculated_mol_wt: 1607
peptide sequence: 
MLPRRPLAWPAWL

mat_peptide: 14..521
product: D-2-hydroxyglutarate dehydrogenase, mitochondrial
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (Q8N465.3)
calculated_mol_wt: 54827
peptide sequence: 
LRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFSTVSKQDLAAFERIVPGGVVTDPEALQAPNVDWLRTLRGCSKVLLRPRTSEEVS
HILRHCHERNLAVNPQGGNTGMVGGSVPVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHIGGNVATNAGGLRF
LRYGSLHGTVLGLEVVLADGTVLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVNVAFLGCPGFAEVLQTFSTCKGMLGEILSAFEFM
DAVCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHDAEKLGHFLEHALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYD
IVTDLRARLGPHAKHVVGYGHLGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSKPPGALQLMQQLKALLDPKGILNP
YKTLPSQA

D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 2

Refseq ID:	NP_001274178
Protein GI:	564730541
UniProt ID:	Q8N465
mRNA ID:	NM_001287249
Length:	387
RefSeq Status:

`MVGGSVPVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHIGGNVATNAGGLRFLRYGSLHGTVLGLEVVLADGT VLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVNVAFLGCPGFAEVLQTFSTCKGMLGEILSAFEFMDAVCMQLVGRHLHLASPVQES PFYVLIETSGSNAGHDAEKLGHFLEHALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYDIVTDLRARLGPHAKHVVGYGH LGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSKPPGALQLMQQLKALLDPKGILNPYKTLPSQA`