HSD17B10 - hydroxysteroid 17-beta dehydrogenase 10 Gene
Also Known as ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; HSD10MD; 17b-HSD10; DUPXp11.22
Species: Homo sapiens
About HSD17B10
This gene has 9 transcripts (splice variants), 214 orthologues, 25 paralogues and is associated with 6 phenotypes. Ubiquitous expression in liver (RPKM 63.6), kidney (RPKM 48.2) and 25 other tissues.
Summary
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 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001037811.2 | NP_001032900.1 | 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2 |
| NM_004493.3 | NP_004484.1 | 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial nucleoid |
IDA
IDA: Inferred from direct assay
|
24703694 | GOA |
| part of mitochondrial ribonuclease P complex |
IDA
IDA: Inferred from direct assay
|
25925575 | GOA |
| part of mitochondrial ribonuclease P complex |
IPI
IPI: Inferred from physical interaction
|
29880640 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
23042678 | GOA |
| part of tRNA methyltransferase complex |
IPI
IPI: Inferred from physical interaction
|
23042678 | GOA |
HSD17B10 Protein Structure
adh_short: short chain dehydrogenase (12 - 184)
- 0
- 100
- 200
- 261 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
3-hydroxyacyl-CoA dehydrogenase type-2 |
|
HSD17B10 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
HSD17B10 | Q99714 | TRAP1 | Homo sapiens | Q12931 | 29128334 | |
|
Intra
|
HSD17B10 | Q99714 | TRAP1 | Homo sapiens | Q12931 | 29128334 | |
|
Intra
|
HSD17B10 | Q99714 | TRMT10C | Homo sapiens | Q7L0Y3 | 29880640 | |
|
Intra
|
HSD17B10 | Q99714 | TRMT10C | Homo sapiens | Q7L0Y3 | 29880640 | |
|
Intra
|
HSD17B10 | Q99714 | TRMT10C | Homo sapiens | Q7L0Y3 | 29880640 | |
|
Intra
|
HSD17B10 | Q99714 | TRMT10C | Homo sapiens | Q7L0Y3 | 29880640 | |
|
Intra
|
HSD17B10 | Q99714 | TRMT10C | Homo sapiens | Q7L0Y3 | 33961781 | |
|
Intra
|
HSD17B10 | Q99714 | TRMT10C | Homo sapiens | Q7L0Y3 | 29880640 | |
|
Intra
|
HSD17B10 | Q99714 | TRMT10C | Homo sapiens | Q7L0Y3 | 28514442 | |
|
Intra
|
HSD17B10 | Q99714 | EEF2 | Homo sapiens | P13639 | 29128334 | |
|
Intra
|
HSD17B10 | Q99714 | EEF2 | Homo sapiens | P13639 | 29128334 | |
|
Intra
|
HSD17B10 | Q99714 | APP | Homo sapiens | P05067 | 9338779 | |
|
Intra
|
HSD17B10 | Q99714 | APP | Homo sapiens | P05067 | 9338779 | |
|
Intra
|
HSD17B10 | Q99714 | APP | Homo sapiens | P05067 | 9338779 | |
|
Intra
|
HSD17B10 | Q99714 | P05067-PRO_0000000092 | Homo sapiens | P05067-PRO_0000000092 | 32825572 |
HSD17B10 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83598 | ERAB Antibody (YA3343) | WB, IHC-P, ICC/IF, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hsd10 Mitochondrial Disease |
|
|
| Syndromic X-Linked Intellectual Disability Type 10 |
|
|
| Alpha-Methylacetoacetic Aciduria |
|
|
| Hyperinsulinism |
|
|
| Metabolic Acidosis |
|
|
| Mitochondrial Disease |
|
|
| Chromosome 3q29 Duplication Syndrome |
|
|
| Lactic Acidosis |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | HSD17B10 | RGD | RGD:69231 |
| Bos taurus | HSD17B10 | VGNC | VGNC:29969 |
| Macaca mulatta | HSD17B10 | VGNC | VGNC:81419 |
| Felis catus | HSD17B10 | VGNC | VGNC:97457 |
| Mus musculus | HSD17B10 | MGD | MGI:1333871 |
| Canis familiaris | HSD17B10 | VGNC | VGNC:41801 |
| Others | HSD17B10 | NCBI |