Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.2.1.3
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
aldehyde dehydrogenase (NAD+)
1.2.1.94
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
farnesal dehydrogenase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 4QGK | 2.1 | Structure of the Human Sjogren Larsson Syndrome enzyme fatty aldehyde dehydrogenase (FALDH) |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006081 | cellular aldehyde metabolic process |
| Biological Process | GO:0007417 | central nervous system development |
| Biological Process | GO:0008544 | epidermis development |
| Biological Process | GO:0006631 | fatty acid metabolic process |
| Biological Process | GO:0046458 | hexadecanal metabolic process |
| Biological Process | GO:0007422 | peripheral nervous system development |
| Biological Process | GO:0033306 | phytol metabolic process |
| Biological Process | GO:0006714 | sesquiterpenoid metabolic process |
| Molecular Function | GO:0004028 | 3-chloroallyl aldehyde dehydrogenase activity |
| Molecular Function | GO:0004029 | aldehyde dehydrogenase (NAD+) activity |
| Molecular Function | GO:0043878 | glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity |
| Molecular Function | GO:0046577 | long-chain-alcohol oxidase activity |
| Molecular Function | GO:0050061 | long-chain-aldehyde dehydrogenase activity |
| Molecular Function | GO:0052814 | medium-chain-aldehyde dehydrogenase activity |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
| Cellular Component | GO:0043231 | intracellular membrane-bounded organelle |
| Cellular Component | GO:0005778 | peroxisomal membrane |
| Cellular Component | GO:0005777 | peroxisome |
| InterPro
|
InterPro name |
|---|---|
| IPR012394 | Aldehyde dehydrogenase NAD(P)-dependent |
| IPR015590 | Aldehyde dehydrogenase domain |
| IPR016160 | Aldehyde dehydrogenase, cysteine active site |
| IPR016161 | Aldehyde/histidinol dehydrogenase |
| IPR016162 | Aldehyde dehydrogenase, N-terminal |
| IPR016163 | Aldehyde dehydrogenase, C-terminal |
| IPR029510 | Aldehyde dehydrogenase, glutamic acid active site |
| Pfam
|
Pfam name |
|---|---|
| PF00171 | Aldehyde dehydrogenase family |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1660661 | Sphingolipid de novo biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-389599 | Alpha-oxidation of phytanate | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-9603798 | Class I peroxisomal membrane protein import | Leaf | R-HSA-9609507 | Protein localization |
| R-HSA-9609523 | Insertion of tail-anchored proteins into the endoplasmic reticulum membrane | Leaf | R-HSA-9609507 | Protein localization |
| R-HSA-9696270 | RND2 GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9696273 | RND1 GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Endoplasmic reticulum membrane | ECO:0000305 | PubMed:25047030 |
| Endoplasmic reticulum membrane | ECO:0000305 | PubMed:9133646 |
| Microsome membrane | ECO:0000269 | PubMed:25047030 |
| Microsome membrane | ECO:0000269 | PubMed:9133646 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000483 | Astigmatism |
| HP:0000488 | Retinopathy |
| HP:0000545 | Myopia |
| HP:0000551 | Color vision defect |
| HP:0000608 | Macular degeneration |
| HP:0000613 | Photophobia |
| HP:0000682 | Abnormal dental enamel morphology |
| HP:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
| HP:0001025 | Urticaria |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001264 | Spastic diplegia |
| HP:0001371 | Flexion contracture |
| HP:0001387 | Joint stiffness |
| HP:0001595 | Abnormal hair morphology |
| HP:0001597 | Abnormality of the nail |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002313 | Spastic paraparesis |
| HP:0002650 | Scoliosis |
| HP:0002652 | Skeletal dysplasia |
| HP:0002808 | Kyphosis |
| HP:0002942 | Thoracic kyphosis |
| HP:0003577 | Congenital onset |
| HP:0004322 | Short stature |
| HP:0006297 | Enamel hypoplasia |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007305 | CNS demyelination |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0007663 | Reduced visual acuity |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0007722 | Retinal pigment epithelial atrophy |
| HP:0007727 | Opacification of the corneal epithelium |
| HP:0008064 | Ichthyosis |
| HP:0010783 | Erythema |
| HP:0030329 | Retinal thinning |
| HP:0030501 | Macular crystals |
| HP:0031717 | Alternating exotropia |
| HP:0032028 | Macular dots |
| HP:0100533 | Inflammatory abnormality of the eye |
| HP:0200020 | Corneal erosion |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| sjogren-larsson syndrome | MONDO:0010031 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:270200 | Orphanet:816 |