Atm - ataxia telangiectasia mutated Gene
Also Known as C030026E19Rik
Species: Mus musculus
About Atm
This gene has 6 transcripts (splice variants), 226 orthologues, 5 paralogues and is associated with 130 phenotypes. Ubiquitous expression in CNS E11.5 (RPKM 3.8), CNS E14 (RPKM 2.7) and 24 other tissues.
Summary
Enables protein kinase activity. Involved in several processes, including cellular response to retinoic acid; negative regulation of TORC1 signaling; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within several processes, including DNA recombination; animal organ development; and meiotic nuclear division. Located in cytoplasm; microtubule cytoskeleton; and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study ataxia telangiectasia. Human ortholog(s) of this gene implicated in several diseases, including colorectal cancer; endometrial cancer; lung carcinoma (multiple); neurodegenerative disease (multiple); and senile cataract. Orthologous to human ATM (ATM serine/threonine kinase). [provided by Alliance of Genome Resources, Apr 2022]
Atm Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_007499.3 | NP_031525.3 | serine-protein kinase ATM |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables histone H2AXS139 kinase activity |
IDA
IDA: Inferred from direct assay
|
11571274 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15680327 | MGI |
| enables protein kinase activity |
IDA
IDA: Inferred from direct assay
|
10710310 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
25936915 | MGI |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
29955025 | MGI |
| is active in extrinsic component of synaptic vesicle membrane |
IDA
IDA: Inferred from direct assay
|
27075534 | MGI |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
29955025 | MGI |
| located in spindle |
IDA
IDA: Inferred from direct assay
|
15509711 | MGI |
Atm Protein Structure
TAN: pfam11640 (7 - 164)
FAT: pfam02259 (2101 - 2495)
PIKKc_ATM: cd05171 (2689 - 2968)
FATC: pfam02260 (3032 - 3061)
- 0
- 500
- 1000
- 1500
- 2000
- 2500
- 3063 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
serine-protein kinase ATM |
|
|