Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.1.1.159
Oxidoreductases;
Acting on the CH-OH group of donors;
With NAD+ or NADP+ as acceptor;
7α-hydroxysteroid dehydrogenase
1.1.1.178
Oxidoreductases;
Acting on the CH-OH group of donors;
With NAD+ or NADP+ as acceptor;
3-hydroxy-2-methylbutyryl-CoA dehydrogenase
1.1.1.239
Oxidoreductases;
Acting on the CH-OH group of donors;
With NAD+ or NADP+ as acceptor;
3α(17β)-hydroxysteroid dehydrogenase (NAD+)
1.1.1.35
Oxidoreductases;
Acting on the CH-OH group of donors;
With NAD+ or NADP+ as acceptor;
3-hydroxyacyl-CoA dehydrogenase
1.1.1.53
Oxidoreductases;
Acting on the CH-OH group of donors;
With NAD+ or NADP+ as acceptor;
3α(or 20β)-hydroxysteroid dehydrogenase
1.1.1.62
Oxidoreductases;
Acting on the CH-OH group of donors;
With NAD+ or NADP+ as acceptor;
17β-estradiol 17-dehydrogenase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1SO8 | 2.3 | Abeta-bound human ABAD structure [also known as 3-hydroxyacyl-CoA dehydrogenase type II (Type II HADH), Endoplasmic reticulum-associated amyloid beta-peptide binding protein (ERAB)] |
| 1U7T | 2.0 | Crystal Structure of ABAD/HSD10 with a Bound Inhibitor |
| 2O23 | 1.2 | The structure of wild-type human HADH2 (17beta-hydroxysteroid dehydrogenase type 10) bound to NAD+ at 1.2 A |
| 7ONU | 3.0 | Structure of human mitochondrial RNase P in complex with mitochondrial pre-tRNA-Tyr |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0008207 | C21-steroid hormone metabolic process |
| Biological Process | GO:0008209 | androgen metabolic process |
| Biological Process | GO:0006699 | bile acid biosynthetic process |
| Biological Process | GO:0062173 | brexanolone metabolic process |
| Biological Process | GO:0008210 | estrogen metabolic process |
| Biological Process | GO:0006635 | fatty acid beta-oxidation |
| Biological Process | GO:0006631 | fatty acid metabolic process |
| Biological Process | GO:0006550 | isoleucine catabolic process |
| Biological Process | GO:0006629 | lipid metabolic process |
| Biological Process | GO:1990180 | mitochondrial tRNA 3'-end processing |
| Biological Process | GO:0097745 | mitochondrial tRNA 5'-end processing |
| Biological Process | GO:0070901 | mitochondrial tRNA methylation |
| Biological Process | GO:0007005 | mitochondrion organization |
| Biological Process | GO:0051289 | protein homotetramerization |
| Molecular Function | GO:0044594 | 17-beta-hydroxysteroid dehydrogenase (NAD+) activity |
| Molecular Function | GO:0047015 | 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity |
| Molecular Function | GO:0003857 | 3-hydroxyacyl-CoA dehydrogenase activity |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0047044 | androstan-3-alpha,17-beta-diol dehydrogenase activity |
| Molecular Function | GO:0106281 | chenodeoxycholate 7-alpha-dehydrogenase (NAD+) activity |
| Molecular Function | GO:0008709 | cholate 7-alpha-dehydrogenase activity |
| Molecular Function | GO:0004303 | estradiol 17-beta-dehydrogenase NAD(P) activity |
| Molecular Function | GO:0106282 | isoursodeoxycholate 7-beta-dehydrogenase (NAD+) activity |
| Molecular Function | GO:0000049 | tRNA binding |
| Molecular Function | GO:0047035 | testosterone dehydrogenase (NAD+) activity |
| Molecular Function | GO:0030283 | testosterone dehydrogenase NAD(P) activity |
| Molecular Function | GO:0106283 | ursodeoxycholate 7-beta-dehydrogenase (NAD+) activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0042645 | mitochondrial nucleoid |
| Cellular Component | GO:0030678 | mitochondrial ribonuclease P complex |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0043527 | tRNA methyltransferase complex |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-6785470 | tRNA processing in the mitochondrion | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-6787450 | tRNA modification in the mitochondrion | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-70895 | Branched-chain amino acid catabolism | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-8868766 | rRNA processing in the mitochondrion | Internal node | R-HSA-8953854 | Metabolism of RNA |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion | ECO:0000269 | PubMed:12917011 |
| Mitochondrion | ECO:0000269 | PubMed:18984158 |
| Mitochondrion matrix, mitochondrion nucleoid | ECO:0000269 | PubMed:24703694 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000546 | Retinal degeneration |
| HP:0000572 | Visual loss |
| HP:0000618 | Blindness |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000708 | Atypical behavior |
| HP:0000711 | Restlessness |
| HP:0000713 | Agitation |
| HP:0000718 | Aggressive behavior |
| HP:0000749 | Paroxysmal bursts of laughter |
| HP:0000750 | Delayed speech and language development |
| HP:0000961 | Cyanosis |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001264 | Spastic diplegia |
| HP:0001266 | Choreoathetosis |
| HP:0001285 | Spastic tetraparesis |
| HP:0001290 | Generalized hypotonia |
| HP:0001332 | Dystonia |
| HP:0001344 | Absent speech |
| HP:0001392 | Abnormality of the liver |
| HP:0001423 | X-linked dominant inheritance |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001640 | Cardiomegaly |
| HP:0001942 | Metabolic acidosis |
| HP:0001943 | Hypoglycemia |
| HP:0001987 | Hyperammonemia |
| HP:0001999 | Abnormal facial shape |
| HP:0002015 | Dysphagia |
| HP:0002059 | Cerebral atrophy |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002134 | Abnormal basal ganglia morphology |
| HP:0002151 | Increased serum lactate |
| HP:0002180 | Neurodegeneration |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0002370 | Poor coordination |
| HP:0002376 | Developmental regression |
| HP:0002421 | Poor head control |
| HP:0002487 | Hyperkinetic movements |
| HP:0002490 | Increased CSF lactate |
| HP:0002505 | Loss of ambulation |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0002510 | Spastic tetraplegia |
| HP:0002579 | Gastrointestinal dysmotility |
| HP:0003128 | Lactic acidosis |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0003287 | Abnormality of mitochondrial metabolism |
| HP:0003593 | Infantile onset |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0007030 | Nonprogressive encephalopathy |
| HP:0008322 | Abnormal mitochondrial morphology |
| HP:0010864 | Intellectual disability, severe |
| HP:0010936 | Abnormality of the lower urinary tract |
| HP:0011343 | Moderate global developmental delay |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0012707 | Elevated brain lactate level by MRS |
| HP:0030391 | Spoken word recognition deficit |
| HP:0034290 | Elevated circulating tiglylglycine concentration |
| HP:0100022 | Abnormality of movement |
| HP:0500170 | Abnormal concentration of acylcarnitine in the urine |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| hsd10 disease, infantile type | MONDO:0018322 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | Orphanet:391428 | |
| hsd10 disease, neonatal type | MONDO:0018323 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | Orphanet:391457 |