Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.2.1.18
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
malonate-semialdehyde dehydrogenase (acetylating)
1.2.1.27
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
methylmalonate-semialdehyde dehydrogenase (CoA-acylating)
| PDB | Resolution (Å) | PDB name |
|---|
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0009083 | branched-chain amino acid catabolic process |
| Biological Process | GO:0050873 | brown fat cell differentiation |
| Biological Process | GO:0006210 | thymine catabolic process |
| Biological Process | GO:0019859 | thymine metabolic process |
| Biological Process | GO:0006574 | valine catabolic process |
| Biological Process | GO:0006573 | valine metabolic process |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0000062 | fatty-acyl-CoA binding |
| Molecular Function | GO:0018478 | malonate-semialdehyde dehydrogenase (acetylating) activity |
| Molecular Function | GO:0102662 | malonate-semialdehyde dehydrogenase (acetylating, NAD+) activity |
| Molecular Function | GO:0004491 | methylmalonate-semialdehyde dehydrogenase (acylating) activity |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005654 | nucleoplasm |
| InterPro
|
InterPro name |
|---|---|
| IPR010061 | Methylmalonate-semialdehyde dehydrogenase |
| IPR015590 | Aldehyde dehydrogenase domain |
| IPR016160 | Aldehyde dehydrogenase, cysteine active site |
| IPR016161 | Aldehyde/histidinol dehydrogenase |
| IPR016162 | Aldehyde dehydrogenase, N-terminal |
| IPR016163 | Aldehyde dehydrogenase, C-terminal |
| Pfam
|
Pfam name |
|---|---|
| PF00171 | Aldehyde dehydrogenase family |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-70895 | Branched-chain amino acid catabolism | Leaf | R-HSA-1430728 | Metabolism |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000322 | Short philtrum |
| HP:0000343 | Long philtrum |
| HP:0000348 | High forehead |
| HP:0000414 | Bulbous nose |
| HP:0000463 | Anteverted nares |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000518 | Cataract |
| HP:0000568 | Microphthalmia |
| HP:0000954 | Single transverse palmar crease |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001332 | Dystonia |
| HP:0001942 | Metabolic acidosis |
| HP:0002007 | Frontal bossing |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002151 | Increased serum lactate |
| HP:0002188 | Delayed CNS myelination |
| HP:0002912 | Methylmalonic acidemia |
| HP:0003196 | Short nose |
| HP:0003593 | Infantile onset |
| HP:0005280 | Depressed nasal bridge |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0007165 | Periventricular heterotopia |
| HP:0007814 | Retinal pigment epithelial mottling |
| HP:0008070 | Sparse hair |
| HP:0010055 | Broad hallux |
| HP:0010804 | Tented upper lip vermilion |
| HP:0011968 | Feeding difficulties |
| HP:0012120 | Methylmalonic aciduria |
| HP:0020079 | Beta-alaninuria |
| HP:0033725 | Thin corpus callosum |
| HP:0040155 | Elevated urinary 3-hydroxybutyric acid |
| HP:0045034 | Elevated urinary aminoisobutyric acid |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| methylmalonate semialdehyde dehydrogenase deficiency | MONDO:0013579 | E71 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:614105 | Orphanet:289307 |