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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Class:IdReferenceGeneProduct:85553
_displayNameUniProt:Q13315 ATM
_timestamp2014-11-19 11:09:08
checksumC0B4866E1E3199E2
commentTISSUE 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.DOMAIN The FATC domain is required for interaction with KAT5.DISEASE 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.DISEASE Defects in ATM contribute to B-cell non-Hodgkin lymphomas (BNHL), including mantle cell lymphoma (MCL).DISEASE 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.
crossReference[DatabaseIdentifier:6577840] PRO:Q13315
[DatabaseIdentifier:6613092] GeneCards:Q13315
[DatabaseIdentifier:6637635] UCSC human:Q13315
[DatabaseIdentifier:6648290] RefSeq:NP_612149
[DatabaseIdentifier:6648291] RefSeq:NP_000042
[DatabaseIdentifier:6712585] ZINC_target:Q13315
[DatabaseIdentifier:6715983] HMDB_protein:HMDBP01231
descriptionrecommendedName: Serine-protein kinase ATM ecNumber2.7.11.1/ecNumber alternativeName: Ataxia telangiectasia mutated shortName:A-T mutated
geneNameATM
identifierQ13315
isSequenceChangedFALSE
keywordAcetylation
ATP-binding
Cell cycle
Complete proteome
Cytoplasmic vesicle
Disease mutation
DNA damage
DNA-binding
Kinase
Neurodegeneration
Nucleotide-binding
Nucleus
Phosphoprotein
Polymorphism
Reference proteome
Serine/threonine-protein kinase
Transferase
Tumor suppressor
modified[InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10
[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
[InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12
[InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39
[InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18
[InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35
[InstanceEdit:423310] Kanapin, AA
[InstanceEdit:435478] Kanapin, AA
[InstanceEdit:435871] Kanapin, AA
[InstanceEdit:447347] Kanapin, AA
[InstanceEdit:525883] Kanapin, AA
[InstanceEdit:613449] Kanapin, AA
[InstanceEdit:797602] Kanapin, AA
[InstanceEdit:937368] Yung, CK
[InstanceEdit:1042053] Yung, CK
[InstanceEdit:1220657] Yung, CK
[InstanceEdit:1300696] Yung, CK
[InstanceEdit:1301627] Yung, CK
[InstanceEdit:1551960] Weiser, JD
[InstanceEdit:1995863] Weiser, JD
[InstanceEdit:2132304] Weiser, JD
[InstanceEdit:2265580] Weiser, JD
[InstanceEdit:2587579] Weiser, JD
[InstanceEdit:3445779] Weiser, JD
[InstanceEdit:4341137] Weiser, JD
[InstanceEdit:5083144] Weiser, JD
[InstanceEdit:5263031] Weiser, JD
[InstanceEdit:5433710] Weiser, JD
[InstanceEdit:5618415] Weiser, JD
[InstanceEdit:5634237] Weiser, JD
[InstanceEdit:6348073] Croft, D
[InstanceEdit:6378953] Croft, D
[InstanceEdit:6410971] Croft, D
[InstanceEdit:6442989] Croft, D
[InstanceEdit:6475007] Croft, D
[InstanceEdit:6507025] Croft, D
[InstanceEdit:6609128] Croft, D
[InstanceEdit:6626660] Croft, D
[InstanceEdit:6633671] Croft, D
[InstanceEdit:6641434] Croft, D
[InstanceEdit:6672501] Croft, D
[InstanceEdit:6688369] Croft, D
[InstanceEdit:6710999] Croft, D
[InstanceEdit:6715121] Croft, D
nameATM
otherIdentifier0006650286
0006650605
11720013_a_at
11720014_a_at
11741374_x_at
11745546_a_at
11751874_a_at
16730845
1863_s_at
2000_at
2001_g_at
208442_s_at
210858_x_at
212672_at
3002284
3347659
3347665
3347666
3347667
3347668
3347675
3347678
3347679
3347680
3347681
3347682
3347683
3347684
3347685
3347687
3347688
3347689
3347690
3347691
3347693
3347694
3347697
3347698
3347700
3347701
3347702
3347703
3347704
3347707
3347708
3347709
3347710
3347712
3347713
3347714
3347716
3347719
3347721
3347722
3347723
3347724
3347727
3347729
3347730
3347731
3347734
3347738
3347739
3347740
3347742
3347743
3347744
3347745
3347747
3347748
3347750
3347751
3347752
3347754
3347757
3347758
3347759
3347763
3347764
3347770
3347772
3347773
3347775
3347776
3347777
472
7943620
91853_at
A0A024R3C7
A_14_P117132
A_14_P119595
A_14_P131864
A_14_P134778
A_23_P35916
A_23_P374812
A_33_P3589722
AAA86520
AAB38309
AAB38310
AAB65827
AAC50289
AAC51298
AAI37170
AAO26044
AP001925
AP005718
ATM
ATM-003
ATM-201
AY220758
BC137169
CAA62603
CAB000102
CCDS31669
CH471065
E9PIN0
E9PRG7
EAW67108
EAW67111
EAW67113
ENSG00000149311
ENSP00000278616
ENSP00000388058
ENST00000278616
ENST00000452508
EntrezGene:472
g4502266_3p_a_at
GE80884
GE87169
HGNC:795
Hs.194382.2.S1_3p_at
Hs.367437
Hs.658151
Hs.710771
ILMN_1713630
ILMN_1779214
ILMN_2370825
IPR000403
IPR003151
IPR003152
IPR011009
IPR014009
IPR016024
IPR021668
KF455499
LRG_135
LRG_135t1
M0QXY8
MIM:208900
MIM:607585
NM_000051
NP_000042
OTTHUMP00000232981
PF00454
PF02259
PF02260
PF11640
PH_hs_0026560
PH_hs_0045681
SM00146
TC11000980.hg
TC11002857.hg
U26455
U33841
U33841_at
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
U55757
U67092
U67092_s_at
U82828
uc001pkb.1
uc009yxr.1
UPI000016B511
X91196
X91196_s_at
XM_005271561
XM_005271562
XM_005271564
XM_006718843
XM_006718844
XM_006718845
XP_005271618
XP_005271619
XP_005271621
XP_006718906
XP_006718907
XP_006718908
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:6694240] KEGG Gene:472 ATM serine/threonine kinase [Homo sapiens]
[ReferenceDNASequence:6354691] ENSEMBL:ENSG00000149311 [Homo sapiens]
[ReferenceDNASequence:6385562] NCBI Gene:472 [Homo sapiens]
[ReferenceDNASequence:6385563] NCBI Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6423872] BioGPS Gene:472 [Homo sapiens]
[ReferenceDNASequence:6423873] BioGPS Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6455890] CTD Gene:472 [Homo sapiens]
[ReferenceDNASequence:6455891] CTD Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6487908] dbSNP Gene:472 [Homo sapiens]
[ReferenceDNASequence:6487909] dbSNP Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6631377] OMIM:208900 [Homo sapiens]
[ReferenceDNASequence:6631378] OMIM:607585 [Homo sapiens]
[ReferenceDNASequence:6700150] Orphanet:15962 [Homo sapiens]
referenceTranscript[ReferenceRNASequence:6683028] RefSeq:NM_000051
secondaryIdentifierATM_HUMAN
B2RNX5
O15429
Q12758
Q16551
Q93007
Q9NP02
Q9UCX7
sequenceLength3056
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:69484] ATM [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:75145] p-S1981-ATM [nucleoplasm] [Homo sapiens]
(referenceSequence)[ModifiedResidue:75144] O-phospho-L-serine at 1981
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