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MT000081

Record overview

MITO IDMT000081
Gene ID622
SpeciesHomo sapiens (Human)
Gene Name3-hydroxybutyrate dehydrogenase, type 1
Gene SymbolBDH1
SynonymsBDH; SDR9C1;
Alternate namesD-beta-hydroxybutyrate dehydrogenase, mitochondrial; (R)-3-hydroxybutyrate dehydrogenase; 3-hydroxybutyrate dehydrogenase (heart, mitochondrial); short chain dehydrogenase/reductase family 9C, member 1;
Chromosome3
Map Location3q29
EC Number1.1.1.30
SummaryThis gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for BDH1

Proteins

D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor
Refseq ID:NP_004042
Protein GI:17738292
UniProt ID:Q02338
mRNA ID:NM_004051
Length:343
RefSeq Status:
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELD
SLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRM
ANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVID
AVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR
 
N
transit_peptide: 1..46
calculated_mol_wt: 5100
peptide sequence: 
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTY

mat_peptide: 47..343
product: D-beta-hydroxybutyrate dehydrogenase, mitochondrial
calculated_mol_wt: 33075
peptide sequence: 
ASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAG
ISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATS
LYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVIDAVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR

transit_peptide: 1..46
calculated_mol_wt: 5100
peptide sequence: 
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTY

mat_peptide: 47..343
product: D-beta-hydroxybutyrate dehydrogenase, mitochondrial
calculated_mol_wt: 33075
peptide sequence: 
ASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAG
ISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATS
LYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVIDAVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR

transit_peptide: 1..46
calculated_mol_wt: 5100
peptide sequence: 
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTY

mat_peptide: 47..343
product: D-beta-hydroxybutyrate dehydrogenase, mitochondrial
calculated_mol_wt: 33075
peptide sequence: 
ASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAG
ISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATS
LYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVIDAVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR
 
D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor
Refseq ID:NP_976059
Protein GI:44680136
UniProt ID:Q02338
mRNA ID:NM_203314
Length:343
RefSeq Status:
Protein sequence is identical to GI:17738292 (mRNA isoform)
 
N
transit_peptide: 1..46
calculated_mol_wt: 5100
peptide sequence: 
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTY

mat_peptide: 47..343
product: D-beta-hydroxybutyrate dehydrogenase, mitochondrial
calculated_mol_wt: 33075
peptide sequence: 
ASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAG
ISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATS
LYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVIDAVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR
 
D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor
Refseq ID:NP_976060
Protein GI:44680133
UniProt ID:Q02338
mRNA ID:NM_203315
Length:343
RefSeq Status:
Protein sequence is identical to GI:17738292 (mRNA isoform)
 
N
transit_peptide: 1..46
calculated_mol_wt: 5100
peptide sequence: 
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTY

mat_peptide: 47..343
product: D-beta-hydroxybutyrate dehydrogenase, mitochondrial
calculated_mol_wt: 33075
peptide sequence: 
ASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAG
ISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATS
LYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVIDAVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR

transit_peptide: 1..46
calculated_mol_wt: 5100
peptide sequence: 
MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTY

mat_peptide: 47..343
product: D-beta-hydroxybutyrate dehydrogenase, mitochondrial
calculated_mol_wt: 33075
peptide sequence: 
ASAAEPVGSKAVLVTGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAG
ISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGNFIAATS
LYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVIDAVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR