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 |