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- Table of Contents
1 Citations 15 Q&As
Facts about Serine-protein kinase ATM.
After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele into pericentromeric heterochromatin, preventing accessibility into the RAG complex and recombination of the second allele. Also included in signal transduction and cell cycle control.
Human | |
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Gene Name: | ATM |
Uniprot: | Q13315 |
Entrez: | 472 |
Belongs to: |
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PI3/PI4-kinase family |
AT mutated; A-T mutated; AT1; ATA; ataxia telangiectasia mutated (includes complementation groups A, C and D); ataxia telangiectasia mutatedATD; ATC; ATDC; ATE; ATM; DKFZp781A0353; EC 2.7.11.1; MGC74674; serine-protein kinase ATM; TEL1; TEL1, telomere maintenance 1, homolog; TELO1; TPLL
Mass (kDA):
350.687 kDA
Human | |
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Location: | 11q22.3 |
Sequence: | 11; NC_000011.10 (108222484..108369102) |
Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.
Nucleus. Cytoplasmic vesicle. Primarily nuclear. Found also in endocytic vesicles in association with beta-adaptin.
PMID: 8589678 by Savitsky K., et al. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.
PMID: 8665503 by Vorechovsky I., et al. The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.
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