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Details of ACY1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ACY1 | --- | Q03154 | ACY1_HUMAN | 95 | ENSG00000243989 | Aminoacylase-1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Aminoacylase-1 deficiency (ACY1D) [MIM:609924]: An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609924 | ||||||||
Phenotypes
Abnormal CNS myelination, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the ear, Abnormality of the eye, Abnormality of the face, Abnormality of the forebrain, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the inner ear, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the orbital region, Abnormal muscle tone, Acute encephalopathy, All, Aplasia/Hypoplasia involving the central nervous system, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Cognitive impairment, Delayed CNS myelination, Diminished movement, Encephalopathy, Functional abnormality of the inner ear, Global developmental delay, Hearing abnormality, Hearing impairment, Hyperactivity, Hypertelorism, Hypokinesia, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Muscular hypotonia, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Seizures, Sensorineural hearing impairment.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Acy1 | CG17109... | C06A6.4... | Sp-Aacy1... | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| HYI | ACY1 | 0.654772894 | HYI | ACY1 | cpx480 | no | yes | no | Known |