Reviewed, UniProtKB/Swiss-Prot Q13315 (ATM_HUMAN)

Names and origin

Protein names

Recommended name:
    Serine-protein kinase ATM
    EC=2.7.11.1
Alternative name(s):
    Ataxia telangiectasia mutated
      Short name=A-T mutated

Gene names

Name:

ATM

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	3056 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Ref.33 Ref.38 Ref.40 Ref.42
Catalytic activity	ATP + a protein = ADP + a phosphoprotein. Ref.15 Ref.18
Enzyme regulation	Inhibited by wortmannin. Ref.17
Subunit structure	Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM into monomers rendering them catalytically active. Binds p53/TP53, ABL1, BRCA1, NBN/nibrin and TERF1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with RAD17; DNA damage promotes the association. Interacts with EEF1E1; the interaction, induced on DNA damage, upregulates TP53. Interacts with DCLRE1C, MYST1, KAT5, OBFC2B, ATMIN and CEP164. Interacts with AP2B1 and AP3B2; the interaction occurs in cytoplasmic vesicles By similarity. Ref.33 Ref.18 Ref.16 Ref.19 Ref.30 Ref.34 Ref.36 Ref.37 Ref.39 Ref.41 Ref.44 Ref.46
Subcellular location	Nucleus. Cytoplasmic vesicle. Note: Primarily nuclear. Found also in endocytic vesicles in association with beta-adaptin. Ref.13 Ref.14
Tissue specificity	Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.
Induction	By ionizing radiation. Ref.17
Domain	The FATC domain is required for interaction with KAT5.
Post-translational modification	Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1983, Ser-1981 correlates with DNA damage-mediated activation of the kinase. Ref.33 Ref.40 Ref.39 Ref.12 Ref.20 Ref.21 Ref.23 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.31 Ref.32 Ref.35 Ref.43 Ref.45 Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and subsequent autophosphorylation on Ser-1981. Acetylated in vitro by KAT5/TIP60.
Involvement in disease	Defects in ATM are the cause of ataxia telangiectasia (AT) [MIM:208900]; also known as Louis-Bar syndrome, which includes four complementation groups: A, C, D and E. This rare recessive disorder is characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. AT patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation. Ref.33 Ref.40 Ref.42 Ref.39 Ref.41 Ref.14 Ref.35 Ref.43 Ref.45 Ref.2 Ref.9 Ref.24 Ref.49 Ref.50 Ref.51 Ref.52 Ref.53 Ref.54 Ref.57 Ref.58 Ref.59 Ref.60 Ref.62 Ref.63 Ref.64 Ref.65 Ref.66 Ref.71 Ref.73 Ref.74 Ref.78 Ref.79 Defects in ATM contribute to T-cell acute lymphoblastic leukemia (TALL) and T-prolymphocytic leukemia (TPLL). TPLL is characterized by a high white blood cell count, with a predominance of prolymphocytes, marked splenomegaly, lymphadenopathy, skin lesions and serous effusion. The clinical course is highly aggressive, with poor response to chemotherapy and short survival time. TPLL occurs both in adults as a sporadic disease and in younger AT patients. Defects in ATM contribute to B-cell non-Hodgkin lymphomas (BNHL), including mantle cell lymphoma (MCL). Ref.55 Defects in ATM contribute to B-cell chronic lymphocytic leukemia (BCLL). BCLL is the commonest form of leukemia in the elderly. It is characterized by the accumulation of mature CD5+ B lymphocytes, lymphadenopathy, immunodeficiency and bone marrow failure. Ref.69 Ref.70 Ref.75
Sequence similarities	Belongs to the PI3/PI4-kinase family. ATM subfamily. Contains 1 FAT domain. Contains 1 FATC domain. Contains 1 PI3K/PI4K domain.

Ontologies

Keywords
Biological process	Cell cycle DNA damage DNA repair
Cellular component	Cytoplasmic vesicle Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Neurodegeneration Tumor suppressor
Ligand	ATP-binding DNA-binding Nucleotide-binding
Molecular function	Kinase Serine/threonine-protein kinase Transferase
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	DNA repair Inferred from electronic annotation. Source: UniProtKB-KW G2/M transition DNA damage checkpoint Inferred from mutant phenotype. Source: UniProtKB cell cycle arrest Inferred from mutant phenotype. Source: UniProtKB histone mRNA catabolic process Ref.38 Inferred from direct assay. Source: UniProtKB mitotic cell cycle spindle assembly checkpoint Inferred from mutant phenotype. Source: UniProtKB protein amino acid autophosphorylation Ref.21 Inferred from direct assay. Source: UniProtKB reciprocal meiotic recombination Ref.2 Traceable author statement. Source: ProtInc response to ionizing radiation Ref.21 Ref.29 Inferred from direct assay. Source: UniProtKB senescence Inferred from expression pattern. Source: UniProtKB
Cellular component	cytoplasmic membrane-bounded vesicle Inferred from electronic annotation. Source: UniProtKB-SubCell nucleoplasm Ref.23 Ref.33 Inferred from Experiment. Source: Reactome
Molecular function	1-phosphatidylinositol-3-kinase activity Ref.29 Inferred from mutant phenotype. Source: UniProtKB ATP binding Inferred from electronic annotation. Source: UniProtKB-KW DNA binding Inferred from electronic annotation. Source: UniProtKB-KW DNA-dependent protein kinase activity Inferred from direct assay. Source: UniProtKB protein N-terminus binding Ref.29 Inferred from direct assay. Source: UniProtKB protein complex binding Inferred from direct assay. Source: UniProtKB protein dimerization activity Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
AATF	Q9NY61	2	EBI-495465,EBI-372428
ABL1	P00519	1	EBI-495465,EBI-375543
MDC1	Q14676	1	EBI-495465,EBI-495644
OBFC2B	Q9BQ15	3	EBI-495465,EBI-2120336
PPP1CA	P62136	1	EBI-495465,EBI-357253
PPP1CC	P36873-1	1	EBI-495465,EBI-356289
SMC1A	Q14683	1	EBI-495465,EBI-80690
TELO2	Q9Y4R8	1	EBI-495465,EBI-1043674
TERF1	P54274	1	EBI-495465,EBI-710997
TERF1	P54274-1	1	EBI-495465,EBI-711014
TERF1	P54274-2	4	EBI-495465,EBI-711018
Tp53	P02340	1	EBI-495465,EBI-474016	From a different organism.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q13315-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q13315-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1348: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 3056	3056	Serine-protein kinase ATM		PRO_0000088840
Regions
	Domain	1960 – 2566	607	FAT
	Domain	2712 – 2962	251	PI3K/PI4K
	Domain	3024 – 3056	33	FATC
	Region	1373 – 1382	10	Interaction with ABL1
Amino acid modifications
	Modified residue	72	1	Phosphothreonine Ref.43
	Modified residue	85	1	Phosphoserine Ref.43
	Modified residue	86	1	Phosphothreonine Ref.43
	Modified residue	367	1	Phosphoserine; by autocatalysis Ref.40 Ref.43
	Modified residue	373	1	Phosphothreonine Ref.43
	Modified residue	1883	1	Phosphoserine
	Modified residue	1893	1	Phosphoserine; by autocatalysis Ref.40
	Modified residue	1981	1	Phosphoserine; by autocatalysis Ref.33 Ref.40 Ref.39 Ref.35 Ref.43 Ref.45
	Modified residue	1985	1	Phosphothreonine Ref.43
	Modified residue	2996	1	Phosphoserine Ref.45
	Modified residue	3016	1	N6-acetyllysine Ref.42
Natural variations
	Alternative sequence	1 – 1348	1348	Missing in isoform 2.		VSP_037804
	Natural variant	23	1	R → Q in a colorectal adenocarcinoma sample; somatic mutation. Ref.81		VAR_041545
	Natural variant	45	1	R → W: dbSNP rs3218684.		VAR_056678
	Natural variant	49	1	S → C: dbSNP rs1800054. Ref.51 Ref.73 Ref.81 Ref.4 Ref.72		VAR_010798
	Natural variant	126	1	D → E: dbSNP rs2234997. Ref.64 Ref.81		VAR_010799
	Natural variant	140	1	D → H		VAR_041546
	Natural variant	182	1	V → L: dbSNP rs3218707. Ref.72		VAR_010800
	Natural variant	224	1	K → E in AT. Ref.78		VAR_010801
	Natural variant	250	1	R → Q		VAR_041547
	Natural variant	292	1	P → L in AT; associated with lymphoma. Ref.58		VAR_010802
	Natural variant	323	1	I → V in AT. Ref.78		VAR_010803
	Natural variant	332	1	Y → C in B-cell chronic lymphocytic leukemia. Ref.70		VAR_010804
	Natural variant	333	1	S → F		VAR_041548
	Natural variant	337	1	R → C in a colorectal adenocarcinoma sample; somatic mutation. Ref.81		VAR_041549
	Natural variant	337	1	R → H in a colorectal adenocarcinoma sample; somatic mutation. Ref.81		VAR_041550
	Natural variant	350	1	A → T in B-cell chronic lymphocytic leukemia. Ref.75		VAR_010805
	Natural variant	352	1	I → T in B-cell chronic lymphocytic leukemia. Ref.75		VAR_010806
	Natural variant	410	1	V → A		VAR_041551
	Natural variant	504	1	N → S		VAR_041552
	Natural variant	514	1	G → D: dbSNP rs2235000. Ref.64 Ref.81		VAR_010807
	Natural variant	540	1	C → Y in a colorectal adenocarcinoma sample; somatic mutation. Ref.81		VAR_041553
	Natural variant	546	1	L → V: dbSNP rs2227924. Ref.81		VAR_041554
	Natural variant	570	1	F → S in AT. Ref.73		VAR_010808
	Natural variant	582	1	F → L: dbSNP rs2235006. Ref.81		VAR_041555
	Natural variant	705 – 707	3	YSS → FIP in AT; might be associated with susceptibility to cancer.		VAR_010809
	Natural variant	707	1	S → P: dbSNP rs4986761. Ref.81 Ref.72		VAR_010810
	Natural variant	761	1	T → S: dbSNP rs2235011.		VAR_056679
	Natural variant	768	1	N → D in AT. Ref.58		VAR_010812
	Natural variant	785	1	R → C in AT. Ref.73		VAR_010813
	Natural variant	788	1	S → R: dbSNP rs641252.		VAR_056680
	Natural variant	814	1	D → E: dbSNP rs3218695.		VAR_056681
	Natural variant	848	1	E → Q in a lung adenocarcinoma sample; somatic mutation. Ref.81		VAR_041556
	Natural variant	858	1	F → L Rare polymorphism. dbSNP rs1800056. Ref.51 Ref.52 Ref.65 Ref.73 Ref.81 Ref.72		VAR_010814
	Natural variant	872	1	P → S		VAR_041557
	Natural variant	924	1	R → W		VAR_041558
	Natural variant	935	1	T → A		VAR_041559
	Natural variant	935	1	T → M: dbSNP rs3218708.		VAR_056682
	Natural variant	942	1	L → F: dbSNP rs3218688.		VAR_056683
	Natural variant	950	1	L → R in AT.		VAR_010815
	Natural variant	1001	1	L → Q in AT; associated with T-cell acute lymphoblastic leukemia. Ref.58		VAR_010816
	Natural variant	1040	1	M → V in B-cell non-Hodgkin lymphoma. dbSNP rs3092857. Ref.55		VAR_010817
	Natural variant	1054	1	P → R: dbSNP rs1800057. Ref.51 Ref.52 Ref.65 Ref.73 Ref.75 Ref.81 Ref.4 Ref.76		VAR_010818
	Natural variant	1082	1	H → L in AT.		VAR_010819
	Natural variant	1091	1	E → D in AT. Ref.65		VAR_010820
	Natural variant	1179	1	S → F in a gastric adenocarcinoma sample; somatic mutation. Ref.81		VAR_041560
	Natural variant	1313	1	E → Q: dbSNP rs3092841.		VAR_056684
	Natural variant	1321	1	M → I		VAR_041561
	Natural variant	1380	1	H → Y		VAR_041562
	Natural variant	1382	1	P → S		VAR_041563
	Natural variant	1407	1	I → T in T-prolymphocytic leukemia. Ref.55		VAR_010821
	Natural variant	1420	1	L → F Rare polymorphism. dbSNP rs1800058. Ref.51 Ref.81 Ref.4 Ref.72		VAR_010822
	Natural variant	1420	1	L → P in AT. Ref.78		VAR_010823
	Natural variant	1427	1	A → T: dbSNP rs2229021.		VAR_056685
	Natural variant	1454	1	K → N		VAR_010824
	Natural variant	1463	1	F → S in B-cell non-Hodgkin lymphoma. Ref.55		VAR_010825
	Natural variant	1465	1	L → P in AT. Ref.71		VAR_010826
	Natural variant	1469	1	I → M in a renal papillary cancer sample; somatic mutation. Ref.81		VAR_041564
	Natural variant	1475	1	Y → C		VAR_041565
	Natural variant	1541	1	L → F: dbSNP rs3092849.		VAR_056686
	Natural variant	1566	1	P → R in AT. Ref.65		VAR_010827
	Natural variant	1570	1	V → A		VAR_010828
	Natural variant	1650	1	N → S		VAR_041566
	Natural variant	1682	1	D → H in T-prolymphocytic leukemia. Ref.55		VAR_010829
	Natural variant	1691	1	S → R in AT and B-cell chronic lymphocytic leukemia; could be a rare polymorphism. dbSNP rs1800059. Ref.51 Ref.58 Ref.70		VAR_010830
	Natural variant	1729	1	V → L: dbSNP rs3092907.		VAR_056687
	Natural variant	1739	1	N → T in a colorectal adenocarcinoma sample; somatic mutation. Ref.81		VAR_041567
	Natural variant	1743	1	T → I in AT; associated with preleukemic T-cell proliferation. Ref.58		VAR_010831
	Natural variant	1812 – 1813	2	AF → V in AT.		VAR_010832
	Natural variant	1853	1	D → N Common polymorphism. dbSNP rs1801516. Ref.64 Ref.73 Ref.74 Ref.69 Ref.81 Ref.72		VAR_010833
	Natural variant	1853	1	D → V Might contribute to B-cell chronic lymphocytic leukemia. dbSNP rs1801673. Ref.62 Ref.73 Ref.78 Ref.69 Ref.81		VAR_010834
	Natural variant	1910	1	L → H in T-prolymphocytic leukemia. Ref.55		VAR_010835
	Natural variant	1913	1	V → G in AT. Ref.73		VAR_010836
	Natural variant	1916	1	M → I in a breast pleomorphic lobular carcinoma sample; somatic mutation. Ref.81		VAR_041568
	Natural variant	1945	1	A → T in a colorectal adenocarcinoma sample; somatic mutation. Ref.81		VAR_041569
	Natural variant	1953	1	T → R in B-cell chronic lymphocytic leukemia. Ref.69		VAR_010837
	Natural variant	1961	1	Y → C		VAR_041570
	Natural variant	1983	1	S → N		VAR_041571
	Natural variant	1991	1	E → D in a renal clear cell carcinoma sample; somatic mutation. Ref.81		VAR_041572
	Natural variant	2016	1	D → G in AT. Ref.73		VAR_010838
	Natural variant	2034	1	R → Q: dbSNP rs3218670.		VAR_056688
	Natural variant	2063	1	G → E in AT.		VAR_010839
	Natural variant	2067	1	A → D in AT. Ref.73		VAR_010840
	Natural variant	2079	1	V → I: dbSNP rs1800060. Ref.4		VAR_010841
	Natural variant	2139	1	E → G in T-prolymphocytic leukemia; somatic mutation. Ref.67		VAR_010842
	Natural variant	2164	1	E → K in T-prolymphocytic leukemia. Ref.55		VAR_010843
	Natural variant	2218	1	S → C in AT. Ref.78		VAR_010844
	Natural variant	2224 – 2227	4	MALR → IS in AT.		VAR_010845
	Natural variant	2227	1	R → C in AT. Ref.73		VAR_010846
	Natural variant	2246 – 2252	7	CIKDILT → H in AT.		VAR_010847
	Natural variant	2274	1	A → T in B-cell chronic lymphocytic leukemia. Ref.75		VAR_010848
	Natural variant	2287	1	G → A: dbSNP rs1800061. Ref.4		VAR_010849
	Natural variant	2307	1	L → F		VAR_041573
	Natural variant	2332	1	L → P		VAR_041574
	Natural variant	2335	1	T → K: dbSNP rs3092831.		VAR_056689
	Natural variant	2356	1	I → F in a renal clear cell carcinoma sample; somatic mutation. Ref.81		VAR_041575
	Natural variant	2396	1	T → S in T-prolymphocytic leukemia. Ref.55		VAR_010850
	Natural variant	2408	1	S → L in a colorectal adenocarcinoma sample; somatic mutation. Ref.81		VAR_041576
	Natural variant	2418	1	K → KK in mantle cell lymphoma. Ref.69 Ref.80		VAR_010851
	Natural variant	2420	1	A → P in B-cell chronic lymphocytic leukemia. Ref.69		VAR_010852
	Natural variant	2423	1	E → G in mantle cell lymphoma. Ref.69 Ref.80		VAR_010853
	Natural variant	2424	1	V → G in AT, B-cell chronic lymphocytic leukemia and T-prolymphocytic leukemia; associated with increased risk for breast cancer. Ref.49 Ref.58 Ref.55 Ref.70		VAR_010854
	Natural variant	2427 – 2428	2	Missing in AT; associated with T-prolymphocytic leukemia.		VAR_010855
	Natural variant	2438	1	T → I		VAR_010856
	Natural variant	2442	1	Q → P in T-prolymphocytic leukemia; also in a lung adenocarcinoma sample; somatic mutation. Ref.55 Ref.81		VAR_010857
	Natural variant	2443	1	R → Q in a colorectal adenocarcinoma sample; somatic mutation. Ref.81		VAR_041577
	Natural variant	2464	1	C → R		VAR_041578
	Natural variant	2470	1	Y → D in AT. Ref.73		VAR_010858
	Natural variant	2486	1	R → G in T-prolymphocytic leukemia. Ref.61		VAR_010859
	Natural variant	2491	1	W → R in AT. Ref.66		VAR_010860
	Natural variant	2492	1	L → R		VAR_041579
	Natural variant	2546 – 2548	3	Missing in AT, T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia.		VAR_010861
	Natural variant	2554	1	H → D in AT. Ref.58		VAR_010862
	Natural variant	2570	1	E → G: dbSNP rs28904920.		VAR_056690
	Natural variant	2625 – 2626	2	DA → EP in AT.		VAR_010864
	Natural variant	2625	1	D → Q in AT; requires 2 nucleotide substitutions. Ref.78		VAR_010863
	Natural variant	2640	1	T → I: dbSNP rs4988125.		VAR_056691
	Natural variant	2656	1	L → P in AT; partial functional loss. Ref.60		VAR_010865
	Natural variant	2662	1	Missing in AT.		VAR_010866
	Natural variant	2663	1	Missing in AT.		VAR_010867
	Natural variant	2666	1	T → A in a lung adenocarcinoma sample; somatic mutation. Ref.81		VAR_041580
	Natural variant	2668	1	E → G in AT. Ref.58		VAR_010868
	Natural variant	2695	1	G → A in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia. Ref.55 Ref.75		VAR_010869
	Natural variant	2702	1	I → R in AT.		VAR_010870
	Natural variant	2709	1	G → S: dbSNP rs3218680.		VAR_056692
	Natural variant	2719	1	R → H		VAR_041581
	Natural variant	2722	1	L → R in T-prolymphocytic leukemia. Ref.55		VAR_010871
	Natural variant	2725	1	D → G in T-prolymphocytic leukemia. Ref.56		VAR_010872
	Natural variant	2725	1	D → V in T-prolymphocytic leukemia. Ref.55		VAR_010873
	Natural variant	2726	1	A → V in AT.		VAR_010874
	Natural variant	2732	1	F → L in T-prolymphocytic leukemia. Ref.55		VAR_010875
	Natural variant	2765	1	G → S May contribute to breast cancer. Ref.72		VAR_010876
	Natural variant	2810	1	Missing in T-prolymphocytic leukemia.		VAR_010877
	Natural variant	2824	1	C → Y in AT. Ref.14		VAR_010878
	Natural variant	2827	1	F → C in AT; mild. Ref.49 Ref.58		VAR_010879
	Natural variant	2829	1	P → L in AT. Ref.64		VAR_010880
	Natural variant	2832	1	R → C in AT and B-cell non-Hodgkin lymphoma. Ref.57 Ref.78 Ref.55		VAR_010881
	Natural variant	2842	1	P → R in a lung adenocarcinoma sample; somatic mutation. Ref.81		VAR_041582
	Natural variant	2849	1	R → P in AT. Ref.73		VAR_010882
	Natural variant	2855 – 2856	2	SV → RI in AT.		VAR_010884
	Natural variant	2855	1	S → R in AT.		VAR_010883
	Natural variant	2860	1	Missing in AT.		VAR_010885
	Natural variant	2867	1	G → R in AT. Ref.53 Ref.73		VAR_010886
	Natural variant	2870	1	D → N		VAR_041583
	Natural variant	2871 – 2872	2	RH → S in T-prolymphocytic leukemia.		VAR_010887
	Natural variant	2890	1	L → V in T-prolymphocytic leukemia. Ref.55 Ref.67		VAR_010888
	Natural variant	2904	1	E → G in AT. Ref.54		VAR_010889
	Natural variant	2909	1	R → G in AT. Ref.66		VAR_010890
	Natural variant	3006	1	A → P in T-prolymphocytic leukemia. Ref.56		VAR_010892
	Natural variant	3008	1	R → C in AT, T-prolymphocytic leukemia and mantle cell lymphoma. Ref.62 Ref.78 Ref.67 Ref.80 Ref.56		VAR_010893
	Natural variant	3008	1	R → H in B-cell chronic lymphocytic leukemia. Ref.69		VAR_010894
	Natural variant	3018	1	K → N in B-cell chronic lymphocytic leukemia. Ref.69		VAR_010895
Experimental info
	Mutagenesis	367	1	S → A: Loss of IR-induced Ser-367 autophosphorylation. Reduced correction of cell cycle checkpoint defects and DNA-repair activity. No effect on Ser-1893 nor Ser-1981 autophosphorylation. Ref.40
	Mutagenesis	1893	1	S → A: Loss of IR-induced Ser-1893 autophosphorylation. Reduced correction of cell cycle checkpoint defects and DNA-repair activity. No effect on Ser-367 nor Ser-1981 autophosphorylation. Ref.40
	Mutagenesis	1981	1	S → A: Loss of IR-induced Ser-1981 autophosphorylation. Reduced correction of cell cycle checkpoint defects and DNA-repair activity. No effect on Ser-367 nor Ser-1893 autophosphorylation. No dimer disruption. Ref.33 Ref.40
	Mutagenesis	1981	1	S → D or E: Disrupts the dimer. Ref.33 Ref.40
	Mutagenesis	2870	1	D → A: Loss of kinase activity. Ref.21
	Mutagenesis	2875	1	N → K: Loss of kinase activity. Ref.21
	Mutagenesis	3016	1	K → R: Loss of DNA damage-inducible acetylation. Retains constituitive kinase activity, but blocks DNA damage-induced kinase activation. Disrupts dimer and abolishes Ser-1981 autophosphorylation. Ref.42
	Mutagenesis	3018	1	K → R: Retains DNA damage-inducible acetylation and Ser-1981 autophosphorylation. Ref.42
	Sequence conflict	46	1	H → N in CAA62603. Ref.9
	Sequence conflict	56	1	N → I in CAA62603. Ref.9
	Sequence conflict	313	1	Y → N in CAA62603. Ref.9
	Sequence conflict	488	1	W → G in CAA62603. Ref.9
	Sequence conflict	554	1	T → A in AAC50289. Ref.1
	Sequence conflict	750	1	K → N in AAC50289. Ref.1
	Sequence conflict	754	1	Q → K in CAA62603. Ref.9
	Sequence conflict	887	1	E → G in CAA62603. Ref.9
	Sequence conflict	1003	1	Q → L in CAA62603. Ref.9
	Sequence conflict	1049	1	L → W in CAA62603. Ref.9
	Sequence conflict	1089	1	A → V in CAA62603. Ref.9
	Sequence conflict	3003	1	N → D in AAC50289. Ref.1
	Sequence conflict	3003	1	N → D in AAA86520. Ref.2
	Sequence conflict	3003	1	N → D in AAB38309. Ref.4
	Sequence conflict	3003	1	N → D in AAB38310. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 28, 2009. Version 2. Checksum: C0B4866E1E3199E2	FASTA	3,056	350,687
	10 20 30 40 50 60 MSLVLNDLLI CCRQLEHDRA TERKKEVEKF KRLIRDPETI KHLDRHSDSK QGKYLNWDAV 70 80 90 100 110 120 FRFLQKYIQK ETECLRIAKP NVSASTQASR QKKMQEISSL VKYFIKCANR RAPRLKCQEL 130 140 150 160 170 180 LNYIMDTVKD SSNGAIYGAD CSNILLKDIL SVRKYWCEIS QQQWLELFSV YFRLYLKPSQ 190 200 210 220 230 240 DVHRVLVARI IHAVTKGCCS QTDGLNSKFL DFFSKAIQCA RQEKSSSGLN HILAALTIFL 250 260 270 280 290 300 KTLAVNFRIR VCELGDEILP TLLYIWTQHR LNDSLKEVII ELFQLQIYIH HPKGAKTQEK 310 320 330 340 350 360 GAYESTKWRS ILYNLYDLLV NEISHIGSRG KYSSGFRNIA VKENLIELMA DICHQVFNED 370 380 390 400 410 420 TRSLEISQSY TTTQRESSDY SVPCKRKKIE LGWEVIKDHL QKSQNDFDLV PWLQIATQLI 430 440 450 460 470 480 SKYPASLPNC ELSPLLMILS QLLPQQRHGE RTPYVLRCLT EVALCQDKRS NLESSQKSDL 490 500 510 520 530 540 LKLWNKIWCI TFRGISSEQI QAENFGLLGA IIQGSLVEVD REFWKLFTGS ACRPSCPAVC 550 560 570 580 590 600 CLTLALTTSI VPGTVKMGIE QNMCEVNRSF SLKESIMKWL LFYQLEGDLE NSTEVPPILH 610 620 630 640 650 660 SNFPHLVLEK ILVSLTMKNC KAAMNFFQSV PECEHHQKDK EELSFSEVEE LFLQTTFDKM 670 680 690 700 710 720 DFLTIVRECG IEKHQSSIGF SVHQNLKESL DRCLLGLSEQ LLNNYSSEIT NSETLVRCSR 730 740 750 760 770 780 LLVGVLGCYC YMGVIAEEEA YKSELFQKAK SLMQCAGESI TLFKNKTNEE FRIGSLRNMM 790 800 810 820 830 840 QLCTRCLSNC TKKSPNKIAS GFFLRLLTSK LMNDIADICK SLASFIKKPF DRGEVESMED 850 860 870 880 890 900 DTNGNLMEVE DQSSMNLFND YPDSSVSDAN EPGESQSTIG AINPLAEEYL SKQDLLFLDM 910 920 930 940 950 960 LKFLCLCVTT AQTNTVSFRA ADIRRKLLML IDSSTLEPTK SLHLHMYLML LKELPGEEYP 970 980 990 1000 1010 1020 LPMEDVLELL KPLSNVCSLY RRDQDVCKTI LNHVLHVVKN LGQSNMDSEN TRDAQGQFLT 1030 1040 1050 1060 1070 1080 VIGAFWHLTK ERKYIFSVRM ALVNCLKTLL EADPYSKWAI LNVMGKDFPV NEVFTQFLAD 1090 1100 1110 1120 1130 1140 NHHQVRMLAA ESINRLFQDT KGDSSRLLKA LPLKLQQTAF ENAYLKAQEG MREMSHSAEN 1150 1160 1170 1180 1190 1200 PETLDEIYNR KSVLLTLIAV VLSCSPICEK QALFALCKSV KENGLEPHLV KKVLEKVSET 1210 1220 1230 1240 1250 1260 FGYRRLEDFM ASHLDYLVLE WLNLQDTEYN LSSFPFILLN YTNIEDFYRS CYKVLIPHLV 1270 1280 1290 1300 1310 1320 IRSHFDEVKS IANQIQEDWK SLLTDCFPKI LVNILPYFAY EGTRDSGMAQ QRETATKVYD 1330 1340 1350 1360 1370 1380 MLKSENLLGK QIDHLFISNL PEIVVELLMT LHEPANSSAS QSTDLCDFSG DLDPAPNPPH 1390 1400 1410 1420 1430 1440 FPSHVIKATF AYISNCHKTK LKSILEILSK SPDSYQKILL AICEQAAETN NVYKKHRILK 1450 1460 1470 1480 1490 1500 IYHLFVSLLL KDIKSGLGGA WAFVLRDVIY TLIHYINQRP SCIMDVSLRS FSLCCDLLSQ 1510 1520 1530 1540 1550 1560 VCQTAVTYCK DALENHLHVI VGTLIPLVYE QVEVQKQVLD LLKYLVIDNK DNENLYITIK 1570 1580 1590 1600 1610 1620 LLDPFPDHVV FKDLRITQQK IKYSRGPFSL LEEINHFLSV SVYDALPLTR LEGLKDLRRQ 1630 1640 1650 1660 1670 1680 LELHKDQMVD IMRASQDNPQ DGIMVKLVVN LLQLSKMAIN HTGEKEVLEA VGSCLGEVGP 1690 1700 1710 1720 1730 1740 IDFSTIAIQH SKDASYTKAL KLFEDKELQW TFIMLTYLNN TLVEDCVKVR SAAVTCLKNI 1750 1760 1770 1780 1790 1800 LATKTGHSFW EIYKMTTDPM LAYLQPFRTS RKKFLEVPRF DKENPFEGLD DINLWIPLSE 1810 1820 1830 1840 1850 1860 NHDIWIKTLT CAFLDSGGTK CEILQLLKPM CEVKTDFCQT VLPYLIHDIL LQDTNESWRN 1870 1880 1890 1900 1910 1920 LLSTHVQGFF TSCLRHFSQT SRSTTPANLD SESEHFFRCC LDKKSQRTML AVVDYMRRQK 1930 1940 1950 1960 1970 1980 RPSSGTIFND AFWLDLNYLE VAKVAQSCAA HFTALLYAEI YADKKSMDDQ EKRSLAFEEG 1990 2000 2010 2020 2030 2040 SQSTTISSLS EKSKEETGIS LQDLLLEIYR SIGEPDSLYG CGGGKMLQPI TRLRTYEHEA 2050 2060 2070 2080 2090 2100 MWGKALVTYD LETAIPSSTR QAGIIQALQN LGLCHILSVY LKGLDYENKD WCPELEELHY 2110 2120 2130 2140 2150 2160 QAAWRNMQWD HCTSVSKEVE GTSYHESLYN ALQSLRDREF STFYESLKYA RVKEVEEMCK 2170 2180 2190 2200 2210 2220 RSLESVYSLY PTLSRLQAIG ELESIGELFS RSVTHRQLSE VYIKWQKHSQ LLKDSDFSFQ 2230 2240 2250 2260 2270 2280 EPIMALRTVI LEILMEKEMD NSQRECIKDI LTKHLVELSI LARTFKNTQL PERAIFQIKQ 2290 2300 2310 2320 2330 2340 YNSVSCGVSE WQLEEAQVFW AKKEQSLALS ILKQMIKKLD ASCAANNPSL KLTYTECLRV 2350 2360 2370 2380 2390 2400 CGNWLAETCL ENPAVIMQTY LEKAVEVAGN YDGESSDELR NGKMKAFLSL ARFSDTQYQR 2410 2420 2430 2440 2450 2460 IENYMKSSEF ENKQALLKRA KEEVGLLREH KIQTNRYTVK VQRELELDEL ALRALKEDRK 2470 2480 2490 2500 2510 2520 RFLCKAVENY INCLLSGEEH DMWVFRLCSL WLENSGVSEV NGMMKRDGMK IPTYKFLPLM 2530 2540 2550 2560 2570 2580 YQLAARMGTK MMGGLGFHEV LNNLISRISM DHPHHTLFII LALANANRDE FLTKPEVARR 2590 2600 2610 2620 2630 2640 SRITKNVPKQ SSQLDEDRTE AANRIICTIR SRRPQMVRSV EALCDAYIIL ANLDATQWKT 2650 2660 2670 2680 2690 2700 QRKGINIPAD QPITKLKNLE DVVVPTMEIK VDHTGEYGNL VTIQSFKAEF RLAGGVNLPK 2710 2720 2730 2740 2750 2760 IIDCVGSDGK ERRQLVKGRD DLRQDAVMQQ VFQMCNTLLQ RNTETRKRKL TICTYKVVPL 2770 2780 2790 2800 2810 2820 SQRSGVLEWC TGTVPIGEFL VNNEDGAHKR YRPNDFSAFQ CQKKMMEVQK KSFEEKYEVF 2830 2840 2850 2860 2870 2880 MDVCQNFQPV FRYFCMEKFL DPAIWFEKRL AYTRSVATSS IVGYILGLGD RHVQNILINE 2890 2900 2910 2920 2930 2940 QSAELVHIDL GVAFEQGKIL PTPETVPFRL TRDIVDGMGI TGVEGVFRRC CEKTMEVMRN 2950 2960 2970 2980 2990 3000 SQETLLTIVE VLLYDPLFDW TMNPLKALYL QQRPEDETEL HPTLNADDQE CKRNLSDIDQ 3010 3020 3030 3040 3050 SFNKVAERVL MRLQEKLKGV EEGTVLSVGG QVNLLIQQAI DPKNLSRLFP GWKAWV
	Isoform 2. Checksum: 83C081477232F11B	FASTA	1,708	195,978
	10 20 30 40 50 60 MTLHEPANSS ASQSTDLCDF SGDLDPAPNP PHFPSHVIKA TFAYISNCHK TKLKSILEIL 70 80 90 100 110 120 SKSPDSYQKI LLAICEQAAE TNNVYKKHRI LKIYHLFVSL LLKDIKSGLG GAWAFVLRDV 130 140 150 160 170 180 IYTLIHYINQ RPSCIMDVSL RSFSLCCDLL SQVCQTAVTY CKDALENHLH VIVGTLIPLV 190 200 210 220 230 240 YEQVEVQKQV LDLLKYLVID NKDNENLYIT IKLLDPFPDH VVFKDLRITQ QKIKYSRGPF 250 260 270 280 290 300 SLLEEINHFL SVSVYDALPL TRLEGLKDLR RQLELHKDQM VDIMRASQDN PQDGIMVKLV 310 320 330 340 350 360 VNLLQLSKMA INHTGEKEVL EAVGSCLGEV GPIDFSTIAI QHSKDASYTK ALKLFEDKEL 370 380 390 400 410 420 QWTFIMLTYL NNTLVEDCVK VRSAAVTCLK NILATKTGHS FWEIYKMTTD PMLAYLQPFR 430 440 450 460 470 480 TSRKKFLEVP RFDKENPFEG LDDINLWIPL SENHDIWIKT LTCAFLDSGG TKCEILQLLK 490 500 510 520 530 540 PMCEVKTDFC QTVLPYLIHD ILLQDTNESW RNLLSTHVQG FFTSCLRHFS QTSRSTTPAN 550 560 570 580 590 600 LDSESEHFFR CCLDKKSQRT MLAVVDYMRR QKRPSSGTIF NDAFWLDLNY LEVAKVAQSC 610 620 630 640 650 660 AAHFTALLYA EIYADKKSMD DQEKRSLAFE EGSQSTTISS LSEKSKEETG ISLQDLLLEI 670 680 690 700 710 720 YRSIGEPDSL YGCGGGKMLQ PITRLRTYEH EAMWGKALVT YDLETAIPSS TRQAGIIQAL 730 740 750 760 770 780 QNLGLCHILS VYLKGLDYEN KDWCPELEEL HYQAAWRNMQ WDHCTSVSKE VEGTSYHESL 790 800 810 820 830 840 YNALQSLRDR EFSTFYESLK YARVKEVEEM CKRSLESVYS LYPTLSRLQA IGELESIGEL 850 860 870 880 890 900 FSRSVTHRQL SEVYIKWQKH SQLLKDSDFS FQEPIMALRT VILEILMEKE MDNSQRECIK 910 920 930 940 950 960 DILTKHLVEL SILARTFKNT QLPERAIFQI KQYNSVSCGV SEWQLEEAQV FWAKKEQSLA 970 980 990 1000 1010 1020 LSILKQMIKK LDASCAANNP SLKLTYTECL RVCGNWLAET CLENPAVIMQ TYLEKAVEVA 1030 1040 1050 1060 1070 1080 GNYDGESSDE LRNGKMKAFL SLARFSDTQY QRIENYMKSS EFENKQALLK RAKEEVGLLR 1090 1100 1110 1120 1130 1140 EHKIQTNRYT VKVQRELELD ELALRALKED RKRFLCKAVE NYINCLLSGE EHDMWVFRLC 1150 1160 1170 1180 1190 1200 SLWLENSGVS EVNGMMKRDG MKIPTYKFLP LMYQLAARMG TKMMGGLGFH EVLNNLISRI 1210 1220 1230 1240 1250 1260 SMDHPHHTLF IILALANANR DEFLTKPEVA RRSRITKNVP KQSSQLDEDR TEAANRIICT 1270 1280 1290 1300 1310 1320 IRSRRPQMVR SVEALCDAYI ILANLDATQW KTQRKGINIP ADQPITKLKN LEDVVVPTME 1330 1340 1350 1360 1370 1380 IKVDHTGEYG NLVTIQSFKA EFRLAGGVNL PKIIDCVGSD GKERRQLVKG RDDLRQDAVM 1390 1400 1410 1420 1430 1440 QQVFQMCNTL LQRNTETRKR KLTICTYKVV PLSQRSGVLE WCTGTVPIGE FLVNNEDGAH 1450 1460 1470 1480 1490 1500 KRYRPNDFSA FQCQKKMMEV QKKSFEEKYE VFMDVCQNFQ PVFRYFCMEK FLDPAIWFEK 1510 1520 1530 1540 1550 1560 RLAYTRSVAT SSIVGYILGL GDRHVQNILI NEQSAELVHI DLGVAFEQGK ILPTPETVPF 1570 1580 1590 1600 1610 1620 RLTRDIVDGM GITGVEGVFR RCCEKTMEVM RNSQETLLTI VEVLLYDPLF DWTMNPLKAL 1630 1640 1650 1660 1670 1680 YLQQRPEDET ELHPTLNADD QECKRNLSDI DQSFNKVAER VLMRLQEKLK GVEEGTVLSV 1690 1700 GGQVNLLIQQ AIDPKNLSRL FPGWKAWV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species." Savitsky K., Sfez S., Tagle D.A., Ziv Y., Sartiel A., Collins F.S., Shiloh Y., Rotman G. Hum. Mol. Genet. 4:2025-2032(1995) [PubMed: 8589678] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"A single ataxia telangiectasia gene with a product similar to PI-3 kinase." Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L., Tagle D.A., Smith S., Uziel T., Sfez S., Ashkenazi M., Pecker I., Frydman M., Harnik R., Patanjali S.R., Simmons A., Clines G.A., Sartiel A. , Gatti R.A., Chessa L., Sanal O., Lavin M.F., Jaspers N.G.J., Taylor A.M.R., Arlett C.F., Miki T., Weissman S.M., Lovett M., Collins F.S., Shiloh Y. Science 268:1749-1753(1995) [PubMed: 7792600] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS AT 2427-LEU-ARG-2428 DEL; 2546-SER--ILE-2548 DEL AND SER-2860 DEL. Tissue: Fibroblast.
[3]	"Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene." Platzer M., Rotman G., Bauer D., Uziel T., Savitsky K., Bar-Shira A., Gilad S., Shiloh Y., Rosenthal A. Genome Res. 7:592-605(1997) [PubMed: 9199932] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation." Vorechovsky I., Rasio D., Luo L., Monaco C., Hammarstroem L., Webster A.D.B., Zaloudik J., Barbanti-Brodano G., James M.R., Russo G., Croce C.M., Negrini M. Cancer Res. 56:2726-2732(1996) [PubMed: 8665503] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS CYS-49; ARG-1054; PHE-1420; ILE-2079 AND ALA-2287.
[5]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-1983.
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[8]	"Ataxia-telangiectasia: structural diversity of untranslated sequences suggests complex post-transcriptional regulation of ATM gene expression." Savitsky K., Platzer M., Uziel T., Gilad S., Sartiel A., Rosenthal A., Elroy-Stein O., Shiloh Y., Rotman G. Nucleic Acids Res. 25:1678-1684(1997) [PubMed: 9108147] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-24.
[9]	"Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia." Byrd P.J., McConville C.M., Cooper P., Parkhill J., Stankovic T., McGuire G.M., Thick J.A., Taylor A.M.R. Hum. Mol. Genet. 5:145-149(1996) [PubMed: 8789452] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1369 (ISOFORM 1), VARIANT AT 2546-SER--ILE-2548 DEL.
[10]	NIEHS SNPs program Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-2756.
[11]	"Genomic organization of the ATM locus involved in ataxia-telangiectasia." Rasio D., Negrini M., Croce C.M. Cancer Res. 55:6053-6057(1995) [PubMed: 8521392] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1349-3056.
[12]	"The product of the ATM gene is a 370-kDa nuclear phosphoprotein." Chen G., Lee E.Y.-H.P. J. Biol. Chem. 271:33693-33697(1996) [PubMed: 8969240] [Abstract] Cited for: PHOSPHORYLATION.
[13]	"The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage." Brown K.D., Ziv Y., Sadanandan S.N., Chessa L., Collins F.S., Shiloh Y., Tagle D.A. Proc. Natl. Acad. Sci. U.S.A. 94:1840-1845(1997) [PubMed: 9050866] [Abstract] Cited for: SUBCELLULAR LOCATION.
[14]	"Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms." Watters D., Khanna K.K., Beamish H., Birrell G., Spring K., Kedar P., Gatei M., Stenzel D., Hobson K., Kozlov S., Zhang N., Farrell A., Ramsay J., Gatti R.A., Lavin M.F. Oncogene 14:1911-1921(1997) [PubMed: 9150358] [Abstract] Cited for: SUBCELLULAR LOCATION, VARIANTS AT 2546-SER--ILE-2548 DEL AND TYR-2824.
[15]	"ATM gene product phosphorylates I kappa B-alpha." Jung M., Kondratyev A., Lee S.A., Dimtchev A., Dritschilo A. Cancer Res. 57:24-27(1997) [PubMed: 8988033] [Abstract] Cited for: CATALYTIC ACTIVITY.
[16]	"Interaction between ATM protein and c-Abl in response to DNA damage." Shafman T., Khanna K.K., Kedar P., Spring K., Kozlov S., Yen T., Hobson K., Gatei M., Zhang N., Watters D., Egerton M., Shiloh Y., Kharbanda S., Kufe D., Lavin M.F. Nature 387:520-523(1997) [PubMed: 9168117] [Abstract] Cited for: INTERACTION WITH ABL1.
[17]	"Inhibition of phosphoinositide 3-kinase related kinases by the radiosensitizing agent wortmannin." Sarkaria J.N., Tibbetts R.S., Busby E.C., Kennedy A.P., Hill D.E., Abraham R.T. Cancer Res. 58:4375-4382(1998) [PubMed: 9766667] [Abstract] Cited for: ENZYME REGULATION.
[18]	"ATM associates with and phosphorylates p53: mapping the region of interaction." Khanna K.K., Keating K.E., Kozlov S., Scott S., Gatei M., Hobson K., Taya Y., Gabrielli B., Chan D., Lees-Miller S.P., Lavin M.F. Nat. Genet. 20:398-400(1998) [PubMed: 9843217] [Abstract] Cited for: INTERACTION WITH TP53, CATALYTIC ACTIVITY.
[19]	"ATM binds to beta-adaptin in cytoplasmic vesicles." Lim D.-S., Kirsch D.G., Canman C.E., Ahn J.-H., Ziv Y., Newman L.S., Darnell R.B., Shiloh Y., Kastan M.B. Proc. Natl. Acad. Sci. U.S.A. 95:10146-10151(1998) [PubMed: 9707615] [Abstract] Cited for: INTERACTION WITH BETA-ADAPTIN.
[20]	"Enhanced phosphorylation of p53 by ATM in response to DNA damage." Banin S., Moyal L., Shieh S.-Y., Taya Y., Anderson C.W., Chessa L., Smorodinsky N.I., Prives C., Reiss Y., Shiloh Y., Ziv Y. Science 281:1674-1677(1998) [PubMed: 9733514] [Abstract] Cited for: PHOSPHORYLATION OF TP53.
[21]	"Activation of the ATM kinase by ionizing radiation and phosphorylation of p53." Canman C.E., Lim D.-S., Cimprich K.A., Taya Y., Tamai K., Sakaguchi K., Appella E., Kastan M.B., Siliciano J.D. Science 281:1677-1679(1998) [PubMed: 9733515] [Abstract] Cited for: PHOSPHORYLATION OF TP53, MUTAGENESIS OF ASP-2870 AND ASN-2875.
[22]	"Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM." Smith G.C.M., Cary R.B., Lakin N.D., Hann B.C., Teo S.-H., Chen D.J., Jackson S.P. Proc. Natl. Acad. Sci. U.S.A. 96:11134-11139(1999) [PubMed: 10500142] [Abstract] Cited for: DNA-BINDING.
[23]	"Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks." Cortez D., Wang Y., Qin J., Elledge S.J. Science 286:1162-1166(1999) [PubMed: 10550055] [Abstract] Cited for: PHOSPHORYLATION OF BRCA1.
[24]	"BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures." Wang Y., Cortez D., Yazdi P., Neff N., Elledge S.J., Qin J. Genes Dev. 14:927-939(2000) [PubMed: 10783165] [Abstract] Cited for: IDENTIFICATION OF ATM AS MEMBER OF BASC.
[25]	"ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway." Lim D.-S., Kim S.-T., Xu B., Maser R.S., Lin J., Petrini J.H.J., Kastan M.B. Nature 404:613-617(2000) [PubMed: 10766245] [Abstract] Cited for: PHOSPHORYLATION OF NBN.
[26]	"ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response." Wu X., Ranganathan V., Weisman D.S., Heine W.F., Ciccone D.N., O'Neill T.B., Crick K.E., Pierce K.A., Lane W.S., Rathbun G., Livingston D.M., Weaver D.T. Nature 405:477-482(2000) [PubMed: 10839545] [Abstract] Cited for: PHOSPHORYLATION OF NBN.
[27]	"Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response." Li S., Ting N.S.Y., Zheng L., Chen P.-L., Ziv Y., Shiloh Y., Lee E.Y.-H.P., Lee W.-H. Nature 406:210-215(2000) [PubMed: 10910365] [Abstract] Cited for: PHOSPHORYLATION OF CTIP.
[28]	"ATM-dependent phosphorylation of nibrin in response to radiation exposure." Gatei M., Young D., Cerosaletti K.M., Desai-Mehta A., Spring K., Kozlov S., Lavin M.F., Gatti R.A., Concannon P., Khanna K.K. Nat. Genet. 25:115-119(2000) [PubMed: 10802669] [Abstract] Cited for: PHOSPHORYLATION OF NBN.
[29]	"Telomeric protein Pin2/TRF1 as an important ATM target in response to double strand DNA breaks." Kishi S., Zhou X.Z., Ziv Y., Khoo C., Hill D.E., Shiloh Y., Lu K.P. J. Biol. Chem. 276:29282-29291(2001) [PubMed: 11375976] [Abstract] Cited for: PHOSPHORYLATION OF TERF1.
[30]	"ATR/ATM-mediated phosphorylation of human Rad17 is required for genotoxic stress responses." Bao S., Tibbetts R.S., Brumbaugh K.M., Fang Y., Richardson D.A., Ali A., Chen S.M., Abraham R.T., Wang X.-F. Nature 411:969-974(2001) [PubMed: 11418864] [Abstract] Cited for: INTERACTION WITH RAD17.
[31]	"Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways." Taniguchi T., Garcia-Higuera I., Xu B., Andreassen P.R., Gregory R.C., Kim S.-T., Lane W.S., Kastan M.B., D'Andrea A.D. Cell 109:459-472(2002) [PubMed: 12086603] [Abstract] Cited for: PHOSPHORYLATION OF FANCD2.
[32]	"Identification of a novel protein kinase mediating Akt survival signaling to the ATM protein." Suzuki A., Kusakai G., Kishimoto A., Lu J., Ogura T., Lavin M.F., Esumi H. J. Biol. Chem. 278:48-53(2003) [PubMed: 12409306] [Abstract] Cited for: PHOSPHORYLATION BY ARK5.
[33]	"DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation." Bakkenist C.J., Kastan M.B. Nature 421:499-506(2003) [PubMed: 12556884] [Abstract] Cited for: AUTOPHOSPHORYLATION AT SER-1981, SUBUNIT, FUNCTION, MUTAGENESIS OF SER-1981.
[34]	"Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response." Zhang X., Succi J., Feng Z., Prithivirajsingh S., Story M.D., Legerski R.J. Mol. Cell. Biol. 24:9207-9220(2004) [PubMed: 15456891] [Abstract] Cited for: INTERACTION WITH DCLRE1C.
[35]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1981, MASS SPECTROMETRY. Tissue: Epithelium.
[36]	"The haploinsufficient tumor suppressor p18 upregulates p53 via interactions with ATM/ATR." Park B.-J., Kang J.W., Lee S.W., Choi S.-J., Shin Y.K., Ahn Y.H., Choi Y.H., Choi D., Lee K.S., Kim S. Cell 120:209-221(2005) [PubMed: 15680327] [Abstract] Cited for: INTERACTION WITH EEF1E1.
[37]	"Involvement of human MOF in ATM function." Gupta A., Sharma G.G., Young C.S.H., Agarwal M., Smith E.R., Paull T.T., Lucchesi J.C., Khanna K.K., Ludwig T., Pandita T.K. Mol. Cell. Biol. 25:5292-5305(2005) [PubMed: 15923642] [Abstract] Cited for: INTERACTION WITH MYST1.
[38]	"Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1." Kaygun H., Marzluff W.F. Nat. Struct. Mol. Biol. 12:794-800(2005) [PubMed: 16086026] [Abstract] Cited for: FUNCTION IN HISTONE MRNA DEGRADATION ACTIVITY.
[39]	"A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM." Sun Y., Jiang X., Chen S., Fernandes N., Price B.D. Proc. Natl. Acad. Sci. U.S.A. 102:13182-13187(2005) [PubMed: 16141325] [Abstract] Cited for: INTERACTION WITH HTATIP, AUTOPHOSPHORYLATION AT SER-1981, ACETYLATION.
[40]	"Involvement of novel autophosphorylation sites in ATM activation." Kozlov S.V., Graham M.E., Peng C., Chen P., Robinson P.J., Lavin M.F. EMBO J. 25:3504-3514(2006) [PubMed: 16858402] [Abstract] Cited for: AUTOPHOSPHORYLATION AT SER-367; SER-1893 AND SER-1981, FUNCTION, MASS SPECTROMETRY, MUTAGENESIS OF SER-367; SER-1893 AND SER-1981.
[41]	"ATMIN defines an NBS1-independent pathway of ATM signalling." Kanu N., Behrens A. EMBO J. 26:2933-2941(2007) [PubMed: 17525732] [Abstract] Cited for: INTERACTION WITH ATMIN.
[42]	"DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity." Sun Y., Xu Y., Roy K., Price B.D. Mol. Cell. Biol. 27:8502-8509(2007) [PubMed: 17923702] [Abstract] Cited for: ACETYLATION AT LYS-3016, FUNCTION, MUTAGENESIS OF LYS-3016 AND LYS-3018.
[43]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-72; SER-85; THR-86; SER-367; THR-373; SER-1981 AND THR-1985, MASS SPECTROMETRY.
[44]	"Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1." Sivasubramaniam S., Sun X., Pan Y.R., Wang S., Lee E.Y. Genes Dev. 22:587-600(2008) [PubMed: 18283122] [Abstract] Cited for: INTERACTION WITH CEP164.
[45]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1981 AND SER-2996, MASS SPECTROMETRY.
[46]	"Single-stranded DNA-binding protein hSSB1 is critical for genomic stability." Richard D.J., Bolderson E., Cubeddu L., Wadsworth R.I.M., Savage K., Sharma G.G., Nicolette M.L., Tsvetanov S., McIlwraith M.J., Pandita R.K., Takeda S., Hay R.T., Gautier J., West S.C., Paull T.T., Pandita T.K., White M.F., Khanna K.K. Nature 453:677-681(2008) [PubMed: 18449195] [Abstract] Cited for: INTERACTION WITH OBFC2B.
[47]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[48]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed: 19369195] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1883; SER-1981 AND SER-2996, MASS SPECTROMETRY.
[49]	"Mutations associated with variant phenotypes in ataxia-telangiectasia." McConville C.M., Stankovic T., Byrd P.J., McGuire G.M., Yao Q.-Y., Lennox G.G., Taylor A.M.R. Am. J. Hum. Genet. 59:320-330(1996) [PubMed: 8755918] [Abstract] Cited for: VARIANTS AT GLY-2424; 2546-SER--ILE-2548 DEL AND CYS-2827.
[50]	"A high frequency of distinct ATM gene mutations in ataxia-telangiectasia." Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D., Concannon P. Am. J. Hum. Genet. 59:839-846(1996) [PubMed: 8808599] [Abstract] Cited for: VARIANT AT 2546-SER--ILE-2548 DEL, VARIANT ILE-2438.
[51]	"ATM mutations in cancer families." Vorechovsky I., Luo L., Lindblom A., Negrini M., Webster A.D.B., Croce C.M., Hammarstroem L. Cancer Res. 56:4130-4133(1996) [PubMed: 8797579] [Abstract] Cited for: VARIANTS AT 705-PHE--PRO-707 AND 2546-SER--ILE-2548 DEL, VARIANTS CYS-49; LEU-858; ARG-1054; PHE-1420 AND ARG-1691.
[52]	"Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia." Vorechovsky I., Luo L., Prudente S., Chessa L., Russo G., Kanariou M., James M.R., Negrini M., Webster A.D.B., Hammarstroem L. Eur. J. Hum. Genet. 4:352-355(1996) [PubMed: 9043869] [Abstract] Cited for: VARIANT AT 705-PHE--PRO-707, VARIANTS LEU-858 AND ARG-1054.
[53]	"New mutations in the ataxia telangiectasia gene." Baumer A., Bernthaler U., Wolz W., Hoehn H., Schindler D. Hum. Genet. 98:246-249(1996) [PubMed: 8698354] [Abstract] Cited for: VARIANT AT ARG-2867.
[54]	"Predominance of null mutations in ataxia-telangiectasia." Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K., Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M., Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A., Lenoir G. , Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y., Bar-Shira A. Hum. Mol. Genet. 5:433-439(1996) [PubMed: 8845835] [Abstract] Cited for: VARIANTS AT 2427-LEU-ARG-2428 DEL; 2546-SER--ILE-2548 DEL; SER-2860 DEL AND GLY-2904.
[55]	"Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia." Vorechovsky I., Luo L., Dyer M.J.S., Catovsky D., Amlot P.L., Yaxley J.C., Foroni L., Hammarstroem L., Webster A.D.B., Yuille M.A.R. Nat. Genet. 17:96-99(1997) [PubMed: 9288106] [Abstract] Cited for: VARIANTS TPLL THR-1407; HIS-1682; HIS-1910; LYS-2164; SER-2396; GLY-2424; PRO-2442; 2546-SER--ILE-2548 DEL; ALA-2695; ARG-2722; VAL-2725; LEU-2732; LYS-2810 DEL; 2871-ARG-HIS-2872 DELINS SER AND VAL-2890, VARIANTS BNHL VAL-1040; SER-1463 AND CYS-2832.
[56]	"Biallelic mutations in the ATM gene in T-prolymphocytic leukemia." Stilgenbauer S., Schaffner C., Litterst A., Liebisch P., Gilad S., Bar-Shira A., James M.R., Lichter P., Doehner H. Nat. Med. 3:1155-1159(1997) [PubMed: 9334731] [Abstract] Cited for: VARIANTS TPLL GLY-2725; PRO-3006 AND CYS-3008.
[57]	"Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations." Telatar M., Teraoka S., Wang Z., Chun H.H., Liang T., Castellvi-Bel S., Udar N., Boerresen-Dale A.-L., Chessa L., Bernatowska-Matuszkiewicz E., Porras O., Watanabe M., Junker A., Concannon P., Gatti R.A. Am. J. Hum. Genet. 62:86-97(1998) [PubMed: 9443866] [Abstract] Cited for: VARIANT AT CYS-2832.
[58]	"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer." Stankovic T., Kidd A.M.J., Sutcliffe A., McGuire G.M., Robinson P., Weber P., Bedenham T., Bradwell A.R., Easton D.F., Lennox G.G., Haites N., Byrd P.J., Taylor A.M.R. Am. J. Hum. Genet. 62:334-345(1998) [PubMed: 9463314] [Abstract] Cited for: VARIANTS AT LEU-292; ASP-768; GLN-1001; ARG-1691; ILE-1743; GLY-2424; 2427-LEU-ARG-2428 DEL; 2546-SER--ILE-2548 DEL; ASP-2554; GLY-2668 AND CYS-2827.
[59]	"Genotype-phenotype relationships in ataxia-telangiectasia and variants." Gilad S., Chessa L., Khosravi R., Russell P., Galanty Y., Piane M., Gatti R.A., Jorgensen T.J., Shiloh Y., Bar-Shira A. Am. J. Hum. Genet. 62:551-561(1998) [PubMed: 9497252] [Abstract] Cited for: VARIANT AT 1812-ALA-PHE-1813 DELINS VAL.
[60]	"Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain." Toyoshima M., Hara T., Zhang H., Yamamoto T., Akaboshi S., Nanba E., Ohno K., Hori N., Sato K., Takeshita K. Am. J. Med. Genet. 75:141-144(1998) [PubMed: 9450874] [Abstract] Cited for: VARIANT AT PRO-2656.
[61]	"Inactivation of the ATM gene in T-cell prolymphocytic leukemias." Stoppa-Lyonnet D., Soulier J., Lauge A., Dastot H., Garand R., Sigaux F., Stern M.-H. Blood 91:3920-3926(1998) [PubMed: 9573030] [Abstract] Cited for: VARIANT TPLL GLY-2486.
[62]	"Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays." Hacia J.G., Sun B., Hunt N., Edgemon K., Mosbrook D., Robbins C., Fodor S.P.A., Tagle D.A., Collins F.S. Genome Res. 8:1245-1258(1998) [PubMed: 9872980] [Abstract] Cited for: VARIANTS AT 2855-ARG-ILE-2856 AND CYS-3008, VARIANT VAL-1853.
[63]	"A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia." van Belzen M.J., Hiel J.A.P., Weemaes C.M.R., Gabreeels F.J.M., van Engelen B.G.M., Smeets D.F.C.M., van den Heuvel L.P.W.J. Hum. Genet. 102:187-191(1998) [PubMed: 9521587] [Abstract] Cited for: VARIANT AT 2625-GLU-PRO-2626.
[64]	"ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy." Sasaki T., Tian H., Kukita Y., Inazuka M., Tahira T., Imai T., Yamauchi M., Saito T., Hori T., Hashimoto-Tamaoki T., Komatsu K., Nikaido O., Hayashi K. Hum. Mutat. 12:186-195(1998) [PubMed: 9711876] [Abstract] Cited for: VARIANT AT LEU-2829, VARIANTS GLU-126; ASP-514 AND ASN-1853.
[65]	"ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population." Broeks A., de Klein A., Floore A.N., Muijtjens M., Kleijer W.J., Jaspers N.G.J., van 't Veer L.J. Hum. Mutat. 12:330-337(1998) [PubMed: 9792409] [Abstract] Cited for: VARIANTS AT ASP-1091 AND ARG-1566, VARIANTS LEU-858 AND ARG-1054.
[66]	"Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations." Fukao T., Song X.-Q., Yoshida T., Tashita H., Kaneko H., Teramoto T., Inoue R., Katamura K., Mayumi M., Hiratani M., Taniguchi N., Arai J., Wakiguchi H., Bar-Shira A., Shiloh Y., Kondo N. Hum. Mutat. 12:338-343(1998) [PubMed: 9792410] [Abstract] Cited for: VARIANTS AT ARG-2491 AND GLY-2909.
[67]	"ATM is usually rearranged in T-cell prolymphocytic leukaemia." Yuille M.A.R., Coignet L.J.A., Abraham S.M., Yaqub F., Luo L., Matutes E., Brito-Babapulle V., Vorechovsky I., Dyer M.J.S., Catovsky D. Oncogene 16:789-796(1998) [PubMed: 9488043] [Abstract] Cited for: VARIANTS TPLL GLY-2139; VAL-2890 AND CYS-3008.
[68]	Erratum Yuille M.A.R., Coignet L.J.A., Abraham S.M., Yaqub F., Luo L., Matutes E., Brito-Babapulle V., Vorechovsky I., Dyer M.J.S., Catovsky D. Oncogene 16:2955-2955(1998)
[69]	"Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia." Schaffner C., Stilgenbauer S., Rappold G.A., Doehner H., Lichter P. Blood 94:748-753(1999) [PubMed: 10397742] [Abstract] Cited for: VARIANTS BCLL VAL-1853; ARG-1953; PRO-2420; HIS-3008 AND ASN-3018, VARIANTS MCL LYS-2418 INS AND GLY-2423, VARIANT ASN-1853.
[70]	"ATM mutations in B-cell chronic lymphocytic leukemia." Bullrich F., Rasio D., Kitada S., Starostik P., Kipps T., Keating M., Albitar M., Reed J.C., Croce C.M. Cancer Res. 59:24-27(1999) [PubMed: 9892178] [Abstract] Cited for: VARIANTS BCLL CYS-332; ARG-1691 AND GLY-2424.
[71]	"Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations." Izatt L., Vessey C., Hodgson S.V., Solomon E. Eur. J. Hum. Genet. 7:310-320(1999) [PubMed: 10234507] [Abstract] Cited for: VARIANT AT PRO-1465.
[72]	"Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer." Izatt L., Greenman J., Hodgson S.V., Ellis D., Watts S., Scott G., Jacobs C., Liebmann R., Zvelebil M.J., Mathew C., Solomon E. Genes Chromosomes Cancer 26:286-294(1999) [PubMed: 10534763] [Abstract] Cited for: VARIANTS CYS-49; LEU-182; PRO-707; LEU-858; PHE-1420; ALA-1570; ASN-1853 AND SER-2765.
[73]	"Characterization of ATM gene mutations in 66 ataxia telangiectasia families." Sandoval N., Platzer M., Rosenthal A., Doerk T., Bendix R., Skawran B., Stuhrmann M., Wegner R.-D., Sperling K., Banin S., Shiloh Y., Baumer A., Bernthaler U., Sennefelder H., Brohm M., Weber B.H.F., Schindler D. Hum. Mol. Genet. 8:69-79(1999) [PubMed: 9887333] [Abstract] Cited for: VARIANTS AT SER-570; CYS-785; GLY-1913; GLY-2016; ASP-2067; CYS-2227; ASP-2470; VAL-2662 DEL; PRO-2849 AND ARG-2867, VARIANTS CYS-49; LEU-858; ARG-1054; ASN-1853 AND VAL-1853.
[74]	"New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy." Castellvi-Bel S., Sheikhavandi S., Telatar M., Tai L.-Q., Hwang M.J., Wang Z., Yang Z., Cheng R., Gatti R.A. Hum. Mutat. 14:156-162(1999) [PubMed: 10425038] [Abstract] Cited for: VARIANTS AT, VARIANTS ASN-1454 AND ASN-1853.
[75]	"Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia." Stankovic T., Weber P., Stewart G., Bedenham T., Murray J., Byrd P.J., Moss P.A.H., Taylor A.M.R. Lancet 353:26-29(1999) [PubMed: 10023947] [Abstract] Cited for: VARIANTS BCLL THR-350; THR-352; ARG-1054; THR-2274 AND ALA-2695.
[76]	"Missense mutations at ATM gene and cancer risk." Vorechovsky I., Luo L., Ortmann E., Steinmann D., Doerk T. Lancet 353:1276-1276(1999) [PubMed: 10217116] [Abstract] Cited for: VARIANT ARG-1054.
[77]	Erratum Vorechovsky I., Luo L., Ortmann E., Steinmann D., Doerk T. Lancet 354:780-780(1999)
[78]	"Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients." Li A., Swift M. Am. J. Med. Genet. 92:170-177(2000) [PubMed: 10817650] [Abstract] Cited for: VARIANTS AT GLU-224; VAL-323; PRO-1420; CYS-2218; 2546-SER--ILE-2548 DEL; GLN-2625; CYS-2832; 2855-ARG-ILE-2856 AND CYS-3008, VARIANTS VAL-1853 AND ILE-2438.
[79]	"Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity." Becker-Catania S.G., Chen G., Hwang M.J., Wang Z., Sun X., Sanal O., Bernatowska-Matuszkiewicz E., Chessa L., Lee E.Y.-H.P., Gatti R.A. Mol. Genet. Metab. 70:122-133(2000) [PubMed: 10873394] [Abstract] Cited for: VARIANTS AT.
[80]	"Mantle cell lymphoma is characterized by inactivation of the ATM gene." Schaffner C., Idler I., Stilgenbauer S., Doehner H., Lichter P. Proc. Natl. Acad. Sci. U.S.A. 97:2773-2778(2000) [PubMed: 10706620] [Abstract] Cited for: VARIANTS MCL LYS-2418 INS; GLY-2423 AND CYS-3008.
[81]	"Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R. Nature 446:153-158(2007) [PubMed: 17344846] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLN-23; CYS-49; GLU-126; HIS-140; GLN-250; PHE-333; CYS-337; HIS-337; ALA-410; SER-504; ASP-514; TYR-540; VAL-546; LEU-582; PRO-707; GLN-848; LEU-858; SER-872; TRP-924; ALA-935; ARG-1054; PHE-1179; ILE-1321; TYR-1380; SER-1382; PHE-1420; MET-1469; CYS-1475; SER-1650; THR-1739; ASN-1853; VAL-1853; ILE-1916; THR-1945; CYS-1961; ASN-1983; ASP-1991; PHE-2307; PRO-2332; PHE-2356; LEU-2408; PRO-2442; GLN-2443; ARG-2464; ARG-2492; ALA-2666; HIS-2719; ARG-2842 AND ASN-2870.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

NIEHS-SNPs

Wikipedia

Ataxia telangiectasia mutated entry

Cross-references

Sequence databases
EMBL GenBank DDBJ	U33841 mRNA. Translation: AAC50289.1. U26455 mRNA. Translation: AAA86520.1. U82828 Genomic DNA. Translation: AAB65827.1. U55757 , U55704, U55705, U55707, U55708, U55709, U55710, U55711, U55712, U55713, U55714, U55715, U55716, U55717, U55718, U55719, U55720, U55721, U55722, U55723, U55724, U55725, U55726, U55727, U55728, U55729, U55730, U55731, U55732, U55733, U55734, U55735, U55736, U55737, U55738, U55739, U55740, U55741, U55742, U55743, U55744, U55745, U55746, U55747, U55748, U55749, U55750, U55751, U55752, U55753, U55754, U55755, U55756 Genomic DNA. Translation: AAB38309.1. U55757 , U55726, U55727, U55728, U55729, U55730, U55731, U55732, U55733, U55734, U55735, U55736, U55737, U55738, U55739, U55740, U55741, U55742, U55743, U55744, U55745, U55746, U55747, U55748, U55749, U55750, U55751, U55752, U55753, U55754, U55755, U55756 Genomic DNA. Translation: AAB38310.1. AP001925 Genomic DNA. No translation available. AP005718 Genomic DNA. No translation available. CH471065 Genomic DNA. Translation: EAW67111.1. BC137169 mRNA. Translation: AAI37170.1. U67092 Genomic DNA. Translation: AAC51298.1. X91196 mRNA. Translation: CAA62603.1. AY220758 Genomic DNA. Translation: AAO26044.1.
IPI	IPI00289986. IPI00298306.
PIR	A43100.
RefSeq	NP_000042.3. NP_612149.1.
UniGene	Hs.367437
3D structure databases
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-182N.
IntAct	Q13315. 19 interactions.
STRING	Q13315.
PTM databases
PhosphoSite	Q13315.
Proteomic databases
PRIDE	Q13315.
Genome annotation databases
Ensembl	ENST00000278616; ENSP00000278616; ENSG00000149311; Homo sapiens. [Genome view]
GeneID	472.
KEGG	hsa:472.
Organism-specific databases
CTD	472.
GeneCards	GC11P107598. GC11P107599.
H-InvDB	HIX0010089. HIX0010090.
HGNC	HGNC:795. ATM.
HPA	CAB000102.
MIM	208900. phenotype. 607585. gene.
Orphanet	100. Ataxia-telangiectasia. 52416. Mantle cell lymphoma.
PharmGKB	PA61.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG08080.
HOVERGEN	Q13315.
InParanoid	Q13315.
Enzyme and pathway databases
BRENDA	2.7.11.1. 247.
Pathway_Interaction_DB	bard1pathway. BARD1 signaling events. nfkappabcanonicalpathway. Canonical NF-kappaB pathway. p38_mkk3_6pathway. p38 MAPK signaling pathway. telomerasepathway. Regulation of Telomerase.
Reactome	REACT_1538. Cell Cycle Checkpoints. REACT_216. DNA Repair.
Gene expression databases
ArrayExpress	Q13315.
Bgee	Q13315.
CleanEx	HS_ATM.
Genevestigator	Q13315.
GermOnline	ENSG00000149311. Homo sapiens.
Family and domain databases
InterPro	IPR016024. ARM-type_fold. IPR015519. Ataxia_Telang_Mut. IPR003152. FATC. IPR011009. Kinase-like_dom. IPR000403. PI3/4_kinase_cat. IPR018936. PI3/4_kinase_CS. IPR003151. PIK-rel_kinase_FAT. IPR014009. PIK_FAT. [Graphical view]
Gene3D	G3DSA:1.10.1070.11. PI3/4_kinase_cat. 1 hit.
PANTHER	PTHR11139:SF3. Ataxia_Telang_Mut. 1 hit.
Pfam	PF02259. FAT. 1 hit. PF02260. FATC. 1 hit. PF00454. PI3_PI4_kinase. 1 hit. [Graphical view]
SMART	SM00146. PI3Kc. 1 hit. [Graphical view]
PROSITE	PS51189. FAT. 1 hit. PS51190. FATC. 1 hit. PS00915. PI3_4_KINASE_1. 1 hit. PS00916. PI3_4_KINASE_2. 1 hit. PS50290. PI3_4_KINASE_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	1949.
SOURCE	Search...

Entry information

Entry name

ATM_HUMAN

Accession

Primary (citable) accession number: Q13315
Secondary accession number(s): B2RNX5 , O15429, Q12758, Q16551, Q93007, Q9NP02, Q9UCX7

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	July 28, 2009
Last modified:	February 9, 2010
This is version 130 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.