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 |