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This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]
HSD17B10 (Hydroxysteroid 17-Beta Dehydrogenase 10) is a Protein Coding gene. Diseases associated with HSD17B10 include Hsd10 Mitochondrial Disease and Alpha-Methylacetoacetic Aciduria. Among its related pathways are Valproic acid pathway and tRNA processing. Gene Ontology (GO) annotations related to this gene include 3-hydroxyacyl-CoA dehydrogenase activity. An important paralog of this gene is HSD17B8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000049 | tRNA binding | IDA | 29040705 |
GO:0003723 | RNA binding | HDA | 22681889 |
GO:0003857 | 3-hydroxyacyl-CoA dehydrogenase activity | IEA,IDA | 23042678 |
GO:0005515 | protein binding | IPI | 9338779 |
GO:0008709 | cholate 7-alpha-dehydrogenase activity | TAS | 9338779 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | TAS | 9338779 |
GO:0005739 | mitochondrion | IDA,ISS | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005886 | plasma membrane | TAS | 9338779 |
GO:0030678 | mitochondrial ribonuclease P complex | IDA,TAS | 23042678 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Valine, leucine and isoleucine degradation | ||
2 | tRNA processing |
.55
|
|
3 | Metabolism |
.40
|
|
4 | Valproic acid pathway | ||
5 | Parkinson disease |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | TAS | 9338779 |
GO:0007005 | mitochondrion organization | IMP | 20077426 |
GO:0008033 | tRNA processing | IEA | -- |
GO:0009083 | branched-chain amino acid catabolic process | TAS | -- |
GO:0051289 | protein homotetramerization | IDA | 25925575 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
Omega-3-carboxylic acids | Approved, Investigational | Pharma | Target, potentiator | 0 | ||
Gimeracil | Approved | Pharma | Dihydropyrimidine dehydrogenase inhibitor | 0 | ||
Mycophenolate mofetil | Approved, Investigational | Pharma | IMPDH inhibitor | 0 | ||
Stiripentol | Approved | Pharma | An LDH inhibitor | 11 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2-methyl-3-hydroxybutyryl-coa |
|
52227-66-4 | ||||
(S)-3-Hydroxydodecanoyl-CoA |
|
72059-49-5 |
|
|||
(S)-3-Hydroxyhexadecanoyl-CoA |
|
35106-50-4 |
|
|||
(S)-3-Hydroxytetradecanoyl-CoA |
|
|
||||
(S)-Hydroxydecanoyl-CoA |
|
6245-70-1 |
|
Compound | Action | Cas Number |
---|---|---|
AGI-6780 | IDH2/R140Q mutation inhibitor | 1432660-47-3 |
CPI-613 | PDH/α-KGDH inhibitor | 95809-78-2 |
Gimeracil | Dihydropyrimidine dehydrogenase inhibitor | 103766-25-2 |
Isosafrole | A stiripentol analog, a potent LDH inhibitor. | 120-58-1 |
Mycophenolate Mofetil | IMPDH inhibitor | 128794-94-5 |
Stiripentol | An LDH inhibitor | 49763-96-4 |
Trilostane | 13647-35-3 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HSD17B10 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HSD17B10 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HSD17B10 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hsd17b10 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hsd17b10 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HSD17B10 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HSD17B10 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | HSD17B10 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hsd17b10 30 |
|
||
Str.8711 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7710 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hsd17b10 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9437 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | scu 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003414 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | ard-1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.827 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU11196 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3465 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
646699 | Uncertain Significance: not provided | 53,431,985(-) | C/T | INTRON_VARIANT | |
702573 | Likely Benign: not provided | 53,432,365(-) | C/G | MISSENSE_VARIANT | |
718791 | Likely Benign: not provided | 53,432,403(-) | A/G | SYNONYMOUS_VARIANT | |
757288 | Likely Benign: not provided | 53,431,912(-) | G/A | INTRON_VARIANT | |
813313 | Likely Pathogenic: HSD10 disease | 53,431,876(-) | C/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hsd10 mitochondrial disease |
|
|
alpha-methylacetoacetic aciduria |
|
|
alzheimer disease |
|
|
syndromic x-linked intellectual disability type 10 |
|
|
2-methylbutyryl-coa dehydrogenase deficiency |
|
|