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Details of ACTB gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ACTB | --- | P60709 | ACTB_HUMAN | 60 | ENSG00000075624 | Actin, cytoplasmic 1 Actin, cytoplasmic 1, N-terminally processed | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Dystonia, juvenile-onset (DYTJ) [MIM:607371]: A form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Patients with juvenile-onset dystonia manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss. Note=The disease is caused by mutations affecting the gene represented in this entry. | 607371 | Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. Note=The disease is caused by mutations affecting the gene represented in this entry. | 243310 | ||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormality of body weight, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of movement, Abnormality of pelvic girdle bone morphology, Abnormality of skeletal morphology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the anterior segment of the eye, Abnormality of the central nervous system, Abnormality of the curvature of the vertebral column, Abnormality of the ear, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the face, Abnormality of the forehead, Abnormality of the gastrointestinal tract, Abnormality of the hard palate, Abnormality of the head, Abnormality of the inner ear, Abnormality of the lens, Abnormality of the lip, Abnormality of the lower limb, Abnormality of the mouth, Abnormality of the nervous system, Abnormality of the oral cavity, Abnormality of the palate, Abnormality of the scapula, Abnormality of the skeletal system, Abnormality of the thorax, Abnormality of the vertebral column, Abnormality of upper lip, Achalasia, All, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the thorax, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the scapulae, Autosomal dominant inheritance, Cataract, Cleft palate, Cleft upper lip, Cognitive impairment, Decreased body weight, Dystonia, Externally rotated/abducted legs, Externally rotated hips, Functional abnormality of the inner ear, Gastrointestinal dysmotility, Global developmental delay, Growth abnormality, Hearing abnormality, Hearing impairment, High forehead, Hypoplastic scapulae, Intellectual disability, Intellectual disability, mild, Kyphoscoliosis, Kyphosis, Mode of inheritance, Oral cleft, Phenotypic abnormality, Scoliosis, Sensorineural hearing impairment, Small for gestational age.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Actb | Act42A... | act-2... | Sp-Msclact | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| CORO1B | ACTB | 0.209159002 | CORO1B | ACTB | cpx62 | no | yes | yes | Known |
| ACTB | EEF1A2 | 0.424532419 | ACTB | EEF1A2 | cpx62 | no | no | yes | Known |
| ACTB | CAD | 0.093555893 | ACTB | CAD | cpx62 | no | no | no | Novel |
| ACTB | RUVBL1 | 0.509383609 | ACTB | RUVBL1 | cpx62 | yes | yes | yes | Known |
| ACTB | RUVBL2 | 0.163887762 | ACTB | RUVBL2 | cpx62 | yes | yes | yes | Known |