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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Class:IdReferenceGeneProduct:85553
_displayNameUniProt:Q13315 ATM
_timestamp2014-05-28 17:18:16
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:6444004] GeneCards:Q13315
[DatabaseIdentifier:6458317] UCSC human:Q13315
[DatabaseIdentifier:6468574] RefSeq:NP_612149
[DatabaseIdentifier:6468575] RefSeq:NP_000042
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 repair
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:6281038] Croft, D
[InstanceEdit:6311957] Croft, D
[InstanceEdit:6343996] Croft, D
[InstanceEdit:6376035] Croft, D
[InstanceEdit:6408074] Croft, D
[InstanceEdit:6440113] Croft, D
[InstanceEdit:6447579] Croft, D
[InstanceEdit:6454426] Croft, D
[InstanceEdit:6461892] Croft, D
[InstanceEdit:6492909] Croft, D
[InstanceEdit:6508136] Croft, D
nameATM
otherIdentifierENSG00000149311
ENST00000278616
ENSP00000278616
1863_s_at
2000_at
2001_g_at
212672_at
210858_x_at
208442_s_at
1554631_at
91853_at
82758_g_at
X91196_s_at
U33841_at
Hs.194382.2.S1_3p_at
g4502266_3p_a_at
Hs2.194382.4.S1_3p_x_at
A_14_P119595
A_14_P131864
A_23_P35916
A_23_P374812
A_32_P13489
CCDS31669
CCDS31670
GE608009
GE649911
GE671537
GE763883
GE807579
GE80884
GE87169
GE719769
AF035326
BC022307
X91196
BC061584
AB209133
CR749436
U33841
U82828
U67092
AY220758
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
U26455
BT006764
EntrezGene:472
EntrezGene:651610
GI_20336200-A
GI_20336202-I
ILMN_11334
ILMN_38953
IPI00289986
IPI00298306
IPI00736184
IPI00783768
IPI00783886
MIM:607585
MIM:208900
AAM09293
AAH22307
AAH61584
BAD92370
CAH18274
AAC50289
AAB65827
AAC51298
AAO26044
AAB38309
AAB38310
AAA86520
CAA62603
AAP35410
NM_000051
NM_138292
XM_940791
NP_612149
NP_000042
XP_945884
Hs.367437
Hs.658151
Hs.669992
Q8TDS2
Q5XKH5
Q6P7P1
Q59GH6
Q68DE6
Q13315
Q96QM9
Q8TDS2_HUMAN
Q5XKH5_HUMAN
Q6P7P1_HUMAN
Q59GH6_HUMAN
Q68DE6_HUMAN
ATM_HUMAN
Q96QM9_HUMAN
IPR000403
IPR003151
IPR003152
IPR014009
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:6513922] KEGG Gene:472 ataxia telangiectasia mutated [Homo sapiens]
[ReferenceDNASequence:6287604] ENSEMBL:ENSG00000149311 [Homo sapiens]
[ReferenceDNASequence:6318510] NCBI Gene:472 [Homo sapiens]
[ReferenceDNASequence:6318511] NCBI Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6356865] BioGPS Gene:472 [Homo sapiens]
[ReferenceDNASequence:6356866] BioGPS Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6388904] CTD Gene:472 [Homo sapiens]
[ReferenceDNASequence:6388905] CTD Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6420943] dbSNP Gene:472 [Homo sapiens]
[ReferenceDNASequence:6420944] dbSNP Gene:651610 [Homo sapiens]
[ReferenceDNASequence:6452182] OMIM:208900 [Homo sapiens]
[ReferenceDNASequence:6452183] OMIM:607585 [Homo sapiens]
referenceTranscript[ReferenceRNASequence:6503014] 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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