instancebrowser | sectioned | sidebarwithdynamichierarchy
Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Class:IdReferenceGeneProduct:85553
_displayNameUniProt:Q13315 ATM
_timestamp2014-09-11 06:50:59
checksumC0B4866E1E3199E2
commentTISSUE SPECIFICITY Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.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.SIMILARITY Belongs to the PI3/PI4-kinase family. ATM subfamily.SIMILARITY Contains 1 FAT domain.SIMILARITY Contains 1 FATC domain.SIMILARITY Contains 1 PI3K/PI4K domain.
crossReference[DatabaseIdentifier:6586974] PRO:Q13315
[DatabaseIdentifier:6622885] GeneCards:Q13315
[DatabaseIdentifier:6647073] UCSC human:Q13315
[DatabaseIdentifier:6657527] RefSeq:NP_612149
[DatabaseIdentifier:6657528] RefSeq:NP_000042
[DatabaseIdentifier:7459934] ZINC_target:Q13315
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:6348050] Croft, D
[InstanceEdit:6379983] Croft, D
[InstanceEdit:6413044] Croft, D
[InstanceEdit:6446105] Croft, D
[InstanceEdit:6479166] Croft, D
[InstanceEdit:6512227] Croft, D
[InstanceEdit:6618954] Croft, D
[InstanceEdit:6636231] Croft, D
[InstanceEdit:6643142] Croft, D
[InstanceEdit:6650745] Croft, D
[InstanceEdit:6682804] Croft, D
[InstanceEdit:6698332] Croft, D
[InstanceEdit:7458354] Croft, D
nameATM
otherIdentifierBC137169
LRG_135
U55732
3347683
AAB65827
3347769
XM_005271561
U33841
3347770
X91196
U55754
U55710
U55741
U55756
AP005718
PH_hs_0026560
U55720
3002284
U55727
U55730
3347695
PF02260
U55716
X91196_s_at
CAA62603
3347729
PH_hs_0045681
ILMN_1779214
3347750
3347688
3347724
NM_000051
3347690
3347752
U55746
3347680
EntrezGene:472
11741374_x_at
3347739
ILMN_1713630
U55704
3347685
U55712
3347758
3347722
U55744
3347713
MIM:208900
U67092
3347745
GE80884
E9PRG7
3347679
IPR011009
3347708
3347775
U55734
U55739
3347774
3347699
3347757
3347730
3347742
AAB38310
AAC50289
ENSG00000149311
16730845
XP_005271618
MIM:607585
0006650286
M0QXY8
3347759
3347727
U55736
0006650605
XP_005271619
U55750
3347721
AAA86520
3347751
11751874_a_at
U55747
A_23_P35916
3347678
A_14_P131864
3347725
3347698
U26455
3347684
3347702
1863_s_at
AY220758
3347754
CAB000102
3347693
Hs.710771
IPR014009
U55729
3347666
3347777
PF00454
U55718
AAC51298
11720013_a_at
Hs.367437
3347772
3347681
3347744
3347747
GE87169
3347734
Hs.658151
IPR003151
AP001925
U55709
KF455499
3347707
U55726
PF02259
3347667
U55753
XM_005271564
3347716
CH471065
U55738
U55755
PF11640
IPR000403
U55737
3347740
3347704
U55731
EAW67111
U55715
A_23_P374812
U55721
3347691
E9PIN0
U55749
210858_x_at
U55717
U55724
XP_005271621
212672_at
2001_g_at
3347763
3347748
U55751
UPI000016B511
3347668
Hs.194382.2.S1_3p_at
208442_s_at
3347714
U55705
U55743
U55723
U55740
3347686
2000_at
3347736
3347696
XM_006718845
XM_006718843
ATM-003
3347687
91853_at
U55742
3347766
U82828
3347731
U55713
7943620
uc009yxr.1
3347675
HGNC:795
IPR016024
3347712
U55707
3347743
XP_006718906
ENSP00000388058
CCDS31669
AAI37170
3347776
A_33_P3589722
3347773
3347738
11745546_a_at
U55733
IPR021668
U55728
U55711
3347689
U55722
XM_005271562
U55748
g4502266_3p_a_at
3347703
U55752
U55725
AAB38309
AAO26044
U55745
3347682
U67092_s_at
U55735
11720014_a_at
3347764
3347662
U55708
3347700
U55714
3347697
U55757
3347709
U55719
XP_006718908
U33841_at
OTTHUMP00000232981
3347694
SM00146
3347723
3347719
3347710
472
ATM
A_14_P119595
3347715
3347741
ILMN_2370825
3347778
3347701
IPR003152
3347665
3347659
XM_006718844
ATM-201
XP_006718907
NP_000042
A_14_P134778
uc001pkb.1
LRG_135t1
A_14_P117132
ENST00000278616
ENSP00000278616
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:6704164] KEGG Gene:472 ATM serine/threonine kinase [Homo sapiens]
[ReferenceDNASequence:6354702] ENSEMBL:ENSG00000149311 [Homo sapiens]
[ReferenceDNASequence:6386630] NCBI Gene:472 [Homo sapiens]
[ReferenceDNASequence:6386631] NCBI Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6426207] BioGPS Gene:472 [Homo sapiens]
[ReferenceDNASequence:6426208] BioGPS Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6459268] CTD Gene:472 [Homo sapiens]
[ReferenceDNASequence:6459269] CTD Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6492329] dbSNP Gene:472 [Homo sapiens]
[ReferenceDNASequence:6492330] dbSNP Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6640877] OMIM:208900 [Homo sapiens]
[ReferenceDNASequence:6640878] OMIM:607585 [Homo sapiens]
[ReferenceDNASequence:6722700] Orphanet:15962 [Homo sapiens]
referenceTranscript[ReferenceRNASequence:6693107] 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
[Change default viewing format]