Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.5.1.8
Oxidoreductases;
Acting on the CH-NH group of donors;
With NAD+ or NADP+ as acceptor;
saccharopine dehydrogenase (NADP+, L-lysine-forming)
1.5.1.9
Oxidoreductases;
Acting on the CH-NH group of donors;
With NAD+ or NADP+ as acceptor;
saccharopine dehydrogenase (NAD+, L-glutamate-forming)
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 5L76 | 2.57 | Crystal structure of human aminoadipate semialdehyde synthase, saccharopine dehydrogenase domain (in apo form) |
| 5L78 | 2.68 | Crystal structure of human aminoadipate semialdehyde synthase, saccharopine dehydrogenase domain (in NAD+ bound form) |
| 5O1N | 2.28 | Crystal structure of human aminoadipate semialdehyde synthase, saccharopine dehydrogenase domain with N-[(2S)-2-Pyrrolidinylmethyl]-trifluoromethanesulfonamide bound |
| 5O1O | 2.48 | Crystal structure of human aminoadipate semialdehyde synthase, saccharopine dehydrogenase domain with proline bound. |
| 5O1P | 1.9 | Crystal structure of human aminoadipate semialdehyde synthase, saccharopine dehydrogenase. |
| 8E8T | 2.18 | Structure of the short LOR domain of human AASS |
| 8E8U | 2.65 | Structure of the LOR domain of human AASS |
| 8E8V | 2.45 | Structure of the short LOR domain of human AASS bound to N-ethylsuccinimide |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0033512 | L-lysine catabolic process to acetyl-CoA via saccharopine |
| Biological Process | GO:0019878 | lysine biosynthetic process via aminoadipic acid |
| Biological Process | GO:0006554 | lysine catabolic process |
| Biological Process | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| Molecular Function | GO:0042393 | histone binding |
| Molecular Function | GO:0047131 | saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity |
| Molecular Function | GO:0004754 | saccharopine dehydrogenase (NAD+, L-lysine-forming) activity |
| Molecular Function | GO:0047130 | saccharopine dehydrogenase (NADP+, L-lysine-forming) activity |
| Molecular Function | GO:0004753 | saccharopine dehydrogenase activity |
| Molecular Function | GO:0003714 | transcription corepressor activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0043231 | intracellular membrane-bounded organelle |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005634 | nucleus |
| InterPro
|
InterPro name |
|---|---|
| IPR005097 | Saccharopine dehydrogenase, NADP binding domain |
| IPR007698 | Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domain |
| IPR007886 | Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminal |
| IPR032095 | Saccharopine dehydrogenase-like, C-terminal |
| IPR036291 | NAD(P)-binding domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF01262 | Alanine dehydrogenase/PNT, C-terminal domain |
| PF03435 | Saccharopine dehydrogenase NADP binding domain |
| PF05222 | Alanine dehydrogenase/PNT, N-terminal domain |
| PF16653 | Saccharopine dehydrogenase C-terminal domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-71064 | Lysine catabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion | ECO:0000269 | PubMed:463877 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000319 | Smooth philtrum |
| HP:0000457 | Depressed nasal ridge |
| HP:0000486 | Strabismus |
| HP:0000601 | Hypotelorism |
| HP:0000708 | Atypical behavior |
| HP:0000736 | Short attention span |
| HP:0000750 | Delayed speech and language development |
| HP:0000752 | Hyperactivity |
| HP:0001083 | Ectopia lentis |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001263 | Global developmental delay |
| HP:0001264 | Spastic diplegia |
| HP:0001268 | Mental deterioration |
| HP:0001285 | Spastic tetraparesis |
| HP:0001310 | Dysmetria |
| HP:0001337 | Tremor |
| HP:0001348 | Brisk reflexes |
| HP:0001363 | Craniosynostosis |
| HP:0001507 | Growth abnormality |
| HP:0001508 | Failure to thrive |
| HP:0001903 | Anemia |
| HP:0001987 | Hyperammonemia |
| HP:0001999 | Abnormal facial shape |
| HP:0002013 | Vomiting |
| HP:0002015 | Dysphagia |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002033 | Poor suck |
| HP:0002066 | Gait ataxia |
| HP:0002161 | Hyperlysinemia |
| HP:0002179 | Opisthotonus |
| HP:0002275 | Poor motor coordination |
| HP:0002312 | Clumsiness |
| HP:0002936 | Distal sensory impairment |
| HP:0003131 | Cystinuria |
| HP:0003268 | Argininuria |
| HP:0003297 | Hyperlysinuria |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0004971 | Pulmonary artery hypoplasia |
| HP:0006532 | Recurrent pneumonia |
| HP:0006889 | Intellectual disability, borderline |
| HP:0008589 | Hypoplastic helices |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009739 | Hypoplasia of the antihelix |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0011021 | Abnormality of circulating enzyme level |
| HP:0011171 | Simple febrile seizure |
| HP:0011342 | Mild global developmental delay |
| HP:0011966 | Elevated plasma citrulline |
| HP:0011968 | Feeding difficulties |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0012403 | Decreased urine alpha-ketoglutarate concentration |
| HP:0012758 | Neurodevelopmental delay |
| HP:0025331 | Upgaze palsy |
| HP:0030051 | Tip-toe gait |
| HP:0031867 | Neck hypertonia |
| HP:0032397 | Citrullinuria |
| HP:0040288 | Nasogastric tube feeding |
| HP:0045074 | Thin eyebrow |
| HP:0100022 | Abnormality of movement |
| HP:0100543 | Cognitive impairment |
| HP:0500151 | Hypercystinemia |
| HP:0500163 | Hypoornithinemia |
| HP:0500204 | Decreased CSF arginine concentration |
| HP:0500208 | Increased CSF lysine concentration |
| HP:0500243 | Abnormal CSF ornithine concentration |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| hyperlysinemia | MONDO:0009388 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:238700 | Orphanet:2203 |
| saccharopinuria | MONDO:0010005 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:268700 | Orphanet:3124 |
| progressive encephalopathy with leukodystrophy due to decr deficiency | MONDO:0014464 | G31 | chapter6, Diseases of the nervous system | OMIM:616034 | Orphanet:431361 |