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tubulin alpha 1a
Summary
- Gene Symbol
-
- TUBA1A
- Aliases
-
- B-ALPHA-1
- FLJ25113
- TUBA3
- tubulin, alpha, brain-specific
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Cytoskeleton
- Direct protein sequencing
- Disease variant
- GTP-binding
- Hydrolase
- Isopeptide bond
- Lissencephaly
- Magnesium
- Metal-binding
- Methylation
- Microtubule
- Nitration
- Phosphoprotein
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q71U36 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| microtubule cytoskeleton organization | ||
| mitotic cell cycle | ||
| neuron migration | ||
| startle response | ||
| intracellular protein transport |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| microtubule cytoskeleton | ||
| neuromuscular junction | ||
| sperm flagellum | ||
| cytoplasmic ribonucleoprotein granule | ||
| recycling endosome |
| GO Term | Evidence Code | PMID |
|---|---|---|
| structural molecule activity | ||
| structural constituent of cytoskeleton | ||
| protein binding | ||
| GTP binding | ||
| hydrolase activity |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Tubulin
- Functional Category
-
- D: Cell cycle control, cell division, chromosome partitioning
- M: Cell wall/membrane/envelope biogenesis
- N: Cell motility
- W: Extracellular structures
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050453 | lissencephaly | |
| DOID:0112232 | lissencephaly 3 | |
| DOID:10907 | microcephaly | |
| DOID:11832 | visual epilepsy |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000175 | Cleft palate |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000308 | Microretrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| Disease ID | Disease Name |
|---|---|
| OMIM:611603 |
|
| ORPHA:171680 |
|
| ORPHA:994 |
|
| ORPHA:45358 |
|
| ORPHA:467166 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 7277 | SGD:S000004593 | ||
| 7846 | Xenbase:XB-GENE-492543 | ||
| 10376 | Xenbase:XB-GENE-22063827 | ||
| 22142 | Xenbase:XB-GENE-492543 | MOUSE16314 | |
| 22143 | Xenbase:XB-GENE-22063827 | MOUSE16312 | |
| 22144 | SGD:S000004593 | ||
| 22145 | SGD:S000004593 | ||
| 22146 | SGD:S000004593 | MOUSE16315 | |
| 22147 | SGD:S000004593 | ||
| 53857 | SGD:S000004593 |
