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This 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]
BDH1 (3-Hydroxybutyrate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with BDH1 include 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency and Chromosome 3Q29 Duplication Syndrome. Among its related pathways are Ketone body metabolism and FOXA2 and FOXA3 transcription factor networks. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 3-hydroxybutyrate dehydrogenase activity. An important paralog of this gene is HSD17B6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0003858 | 3-hydroxybutyrate dehydrogenase activity | IEA,IDA | 8679568 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IEA,IDA | -- |
GO:0005743 | mitochondrial inner membrane | IEA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ketone body metabolism |
.01
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.01
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2 | Metabolism |
.40
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|
3 | Butanoate metabolism | ||
4 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
5 | FOXA2 and FOXA3 transcription factor networks |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008152 | metabolic process | IEA | -- |
GO:0046951 | ketone body biosynthetic process | TAS | -- |
GO:0046952 | ketone body catabolic process | TAS | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(R)-3-Hydroxybutyric acid |
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625-72-9 |
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3-Hydroxybutyric acid |
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300-85-6 |
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Hydrogen Ion |
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PC(18:1(9Z)e/2:0) |
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Phosphatidylcholines Group A |
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68737-67-7 |
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ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BDH1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BDH1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bdh1 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BDH1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bdh1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BDH1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BDH1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BDH1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bdh1 30 |
|
||
Str.11989 30 |
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||||
Zebrafish (Danio rerio) |
Actinopterygii | bdh1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8888 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | F55E10.6 31 |
|
OneToMany | |
dhs-16 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LYS2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712520 | Benign: not provided | 197,532,502(-) | C/G | SYNONYMOUS_VARIANT | |
715597 | Benign: not provided | 197,512,284(-) | C/T | MISSENSE_VARIANT | |
720182 | Benign: not provided | 197,514,412(-) | C/T | MISSENSE_VARIANT | |
783412 | Benign: not provided | 197,533,514(-) | C/T | MISSENSE_VARIANT | |
791966 | Benign: not provided | 197,512,183(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5038n100 | CNV | gain | 25217958 |
dgv5040n100 | CNV | gain | 25217958 |
dgv5041n100 | CNV | gain | 25217958 |
dgv5042n100 | CNV | gain | 25217958 |
dgv635n27 | CNV | gain | 19166990 |
dgv8863n54 | CNV | gain | 21841781 |
esv1013303 | CNV | deletion | 17803354 |
esv1109840 | CNV | deletion | 17803354 |
esv1436400 | CNV | deletion | 17803354 |
esv1448451 | CNV | deletion | 17803354 |
esv2759214 | CNV | gain+loss | 17122850 |
esv29640 | CNV | loss | 19812545 |
esv3599309 | CNV | gain | 21293372 |
esv3599312 | CNV | gain | 21293372 |
esv3599313 | CNV | gain | 21293372 |
esv3599314 | CNV | gain | 21293372 |
esv3893854 | CNV | loss | 25118596 |
nsv1006202 | CNV | gain | 25217958 |
nsv1007506 | CNV | loss | 25217958 |
nsv10399 | CNV | gain | 18304495 |
nsv1136801 | CNV | deletion | 24896259 |
nsv428433 | CNV | gain+loss | 18775914 |
nsv461136 | CNV | gain | 19166990 |
nsv471149 | CNV | gain | 18288195 |
nsv507146 | OTHER | sequence alteration | 20534489 |
nsv508982 | CNV | insertion | 20534489 |
nsv593116 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
3-hydroxy-3-methylglutaryl-coa lyase deficiency |
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chromosome 3q29 duplication syndrome |
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acute gonococcal prostatitis |
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nickel allergic contact dermatitis |
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myopathy, centronuclear, 6, with fiber-type disproportion |
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