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Protein

Serine-protein kinase ATM

Gene

ATM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, 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. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response.8 Publications

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.2 Publications

Enzyme regulationi

Inhibited by wortmannin.1 Publication

GO - Molecular functioni

  • 1-phosphatidylinositol-3-kinase activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • DNA binding Source: UniProtKB-KW
  • DNA-dependent protein kinase activity Source: BHF-UCL
  • protein complex binding Source: BHF-UCL
  • protein dimerization activity Source: BHF-UCL
  • protein N-terminus binding Source: UniProtKB
  • protein serine/threonine kinase activity Source: UniProtKB

GO - Biological processi

  • brain development Source: Ensembl
  • cell cycle arrest Source: BHF-UCL
  • cellular response to DNA damage stimulus Source: UniProtKB
  • cellular response to gamma radiation Source: BHF-UCL
  • cellular response to nitrosative stress Source: ParkinsonsUK-UCL
  • cellular response to X-ray Source: ParkinsonsUK-UCL
  • determination of adult lifespan Source: Ensembl
  • DNA damage induced protein phosphorylation Source: BHF-UCL
  • DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest Source: Reactome
  • DNA double-strand break processing Source: Reactome
  • DNA repair Source: GO_Central
  • DNA replication Source: Reactome
  • DNA synthesis involved in DNA repair Source: Reactome
  • double-strand break repair via homologous recombination Source: Ensembl
  • double-strand break repair via nonhomologous end joining Source: Reactome
  • establishment of macromolecular complex localization to telomere Source: BHF-UCL
  • establishment of RNA localization to telomere Source: BHF-UCL
  • heart development Source: Ensembl
  • histone mRNA catabolic process Source: UniProtKB
  • histone phosphorylation Source: InterPro
  • intrinsic apoptotic signaling pathway in response to DNA damage Source: Ensembl
  • lipoprotein catabolic process Source: Ensembl
  • meiotic telomere clustering Source: Ensembl
  • mitotic spindle assembly checkpoint Source: UniProtKB
  • negative regulation of B cell proliferation Source: UniProtKB
  • negative regulation of telomere capping Source: BHF-UCL
  • negative regulation of TORC1 signaling Source: ParkinsonsUK-UCL
  • neuron apoptotic process Source: Ensembl
  • oocyte development Source: Ensembl
  • peptidyl-serine autophosphorylation Source: MGI
  • peptidyl-serine phosphorylation Source: ParkinsonsUK-UCL
  • positive regulation of apoptotic process Source: UniProtKB
  • positive regulation of DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
  • positive regulation of histone phosphorylation Source: Ensembl
  • positive regulation of neuron apoptotic process Source: Ensembl
  • positive regulation of telomerase catalytic core complex assembly Source: BHF-UCL
  • positive regulation of telomere maintenance via telomerase Source: BHF-UCL
  • positive regulation of telomere maintenance via telomere lengthening Source: BHF-UCL
  • pre-B cell allelic exclusion Source: UniProtKB
  • protein autophosphorylation Source: BHF-UCL
  • protein phosphorylation Source: UniProtKB
  • reciprocal meiotic recombination Source: ProtInc
  • regulation of apoptotic process Source: Reactome
  • regulation of autophagy Source: ParkinsonsUK-UCL
  • regulation of cellular response to heat Source: Reactome
  • regulation of signal transduction by p53 class mediator Source: Reactome
  • replicative senescence Source: BHF-UCL
  • response to hypoxia Source: Ensembl
  • response to ionizing radiation Source: UniProtKB
  • signal transduction Source: ProtInc
  • signal transduction involved in mitotic G2 DNA damage checkpoint Source: BHF-UCL
  • somitogenesis Source: Ensembl
  • strand displacement Source: Reactome
  • telomere maintenance via telomerase Source: BHF-UCL
  • V(D)J recombination Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Serine/threonine-protein kinase, Transferase

Keywords - Biological processi

Cell cycle, DNA damage

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS07604-MONOMER.
ReactomeiR-HSA-2559586. DNA Damage/Telomere Stress Induced Senescence.
R-HSA-3371453. Regulation of HSF1-mediated heat shock response.
R-HSA-349425. Autodegradation of the E3 ubiquitin ligase COP1.
R-HSA-5685938. HDR through Single Strand Annealing (SSA).
R-HSA-5685942. HDR through Homologous Recombination (HRR).
R-HSA-5693548. Sensing of DNA Double Strand Breaks.
R-HSA-5693554. Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).
R-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
R-HSA-5693568. Resolution of D-loop Structures through Holliday Junction Intermediates.
R-HSA-5693571. Nonhomologous End-Joining (NHEJ).
R-HSA-5693579. Homologous DNA Pairing and Strand Exchange.
R-HSA-5693607. Processing of DNA double-strand break ends.
R-HSA-5693616. Presynaptic phase of homologous DNA pairing and strand exchange.
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
R-HSA-6803204. TP53 Regulates Transcription of Genes Involved in Cytochrome C Release.
R-HSA-6803207. TP53 Regulates Transcription of Caspase Activators and Caspases.
R-HSA-6804756. Regulation of TP53 Activity through Phosphorylation.
R-HSA-6804757. Regulation of TP53 Degradation.
R-HSA-6804760. Regulation of TP53 Activity through Methylation.
R-HSA-69473. G2/M DNA damage checkpoint.
R-HSA-69541. Stabilization of p53.
R-HSA-69601. Ubiquitin Mediated Degradation of Phosphorylated Cdc25A.
R-HSA-912446. Meiotic recombination.
SignaLinkiQ13315.
SIGNORiQ13315.

Names & Taxonomyi

Protein namesi
Recommended name:
Serine-protein kinase ATM (EC:2.7.11.1)
Alternative name(s):
Ataxia telangiectasia mutated
Short name:
A-T mutated
Gene namesi
Name:ATM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:795. ATM.

Subcellular locationi

GO - Cellular componenti

  • cytoplasmic, membrane-bounded vesicle Source: UniProtKB-SubCell
  • DNA repair complex Source: MGI
  • nucleoplasm Source: Reactome
  • nucleus Source: ParkinsonsUK-UCL
  • spindle Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Nucleus

Pathology & Biotechi

Involvement in diseasei

Ataxia telangiectasia (AT)23 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. 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.
See also OMIM:208900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010801224K → E in AT. 1 PublicationCorresponds to variant rs145053092dbSNPEnsembl.1
Natural variantiVAR_010802292P → L in AT; associated with lymphoma. 1 PublicationCorresponds to variant rs747727055dbSNPEnsembl.1
Natural variantiVAR_010803323I → V in AT. 1 PublicationCorresponds to variant rs587781511dbSNPEnsembl.1
Natural variantiVAR_010808570F → S in AT. 1 PublicationCorresponds to variant rs777301065dbSNPEnsembl.1
Natural variantiVAR_010809705 – 707YSS → FIP in AT; might be associated with susceptibility to cancer. 3
Natural variantiVAR_010812768N → D in AT. 1 Publication1
Natural variantiVAR_010813785R → C in AT. 1 PublicationCorresponds to variant rs587778065dbSNPEnsembl.1
Natural variantiVAR_010815950L → R in AT. Corresponds to variant rs786203054dbSNPEnsembl.1
Natural variantiVAR_0108161001L → Q in AT; associated with T-cell acute lymphoblastic leukemia. 1 Publication1
Natural variantiVAR_0108191082H → L in AT. 1
Natural variantiVAR_0108201091E → D in AT. 1 Publication1
Natural variantiVAR_0108231420L → P in AT. 1 Publication1
Natural variantiVAR_0108261465L → P in AT. 1 PublicationCorresponds to variant rs730881391dbSNPEnsembl.1
Natural variantiVAR_0108271566P → R in AT. 1 Publication1
Natural variantiVAR_0108301691S → R in AT and B-cell chronic lymphocytic leukemia; unknown pathological significance. 3 PublicationsCorresponds to variant rs1800059dbSNPEnsembl.1
Natural variantiVAR_0108311743T → I in AT; associated with preleukemic T-cell proliferation. 1 PublicationCorresponds to variant rs587779844dbSNPEnsembl.1
Natural variantiVAR_0108321812 – 1813AF → V in AT. 1 Publication2
Natural variantiVAR_0108361913V → G in AT. 1 Publication1
Natural variantiVAR_0108382016D → G in AT. 1 PublicationCorresponds to variant rs587781302dbSNPEnsembl.1
Natural variantiVAR_0108392063G → E in AT. 1
Natural variantiVAR_0108402067A → D in AT. 1 PublicationCorresponds to variant rs397514577dbSNPEnsembl.1
Natural variantiVAR_0108442218S → C in AT. 1 Publication1
Natural variantiVAR_0108452224 – 2227MALR → IS in AT. 4
Natural variantiVAR_0108462227R → C in AT. 1 PublicationCorresponds to variant rs564652222dbSNPEnsembl.1
Natural variantiVAR_0108472246 – 2252CIKDILT → H in AT. 7
Natural variantiVAR_0108542424V → G in AT, B-cell chronic lymphocytic leukemia and T-prolymphocytic leukemia; associated with increased risk for breast cancer. 4 PublicationsCorresponds to variant rs28904921dbSNPEnsembl.1
Natural variantiVAR_0108552427 – 2428Missing in AT; associated with T-prolymphocytic leukemia. 3 Publications2
Natural variantiVAR_0108582470Y → D in AT. 1 Publication1
Natural variantiVAR_0108602491W → R in AT. 1 Publication1
Natural variantiVAR_0108612546 – 2548Missing in AT, T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia. 10 Publications3
Natural variantiVAR_0108622554H → D in AT. 1 Publication1
Natural variantiVAR_0108642625 – 2626DA → EP in AT. Corresponds to variant rs267606668dbSNPEnsembl.2
Natural variantiVAR_0108632625D → Q in AT; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_0108652656L → P in AT; partial functional loss. 1 PublicationCorresponds to variant rs121434218dbSNPEnsembl.1
Natural variantiVAR_0108662662Missing in AT. 1 Publication1
Natural variantiVAR_0108672663Missing in AT. 1
Natural variantiVAR_0108682668E → G in AT. 1 Publication1
Natural variantiVAR_0108702702I → R in AT. 1
Natural variantiVAR_0108742726A → V in AT. 1
Natural variantiVAR_0108782824C → Y in AT. 1 Publication1
Natural variantiVAR_0108792827F → C in AT; mild. 2 PublicationsCorresponds to variant rs121434216dbSNPEnsembl.1
Natural variantiVAR_0108802829P → L in AT. 1 Publication1
Natural variantiVAR_0108812832R → C in AT; also found in B-cell non-Hodgkin lymphoma. 3 PublicationsCorresponds to variant rs587779872dbSNPEnsembl.1
Natural variantiVAR_0108822849R → P in AT. 1 Publication1
Natural variantiVAR_0108842855 – 2856SV → RI in AT. Corresponds to variant rs587781353dbSNPEnsembl.2
Natural variantiVAR_0108832855S → R in AT. Corresponds to variant rs780905851dbSNPEnsembl.1
Natural variantiVAR_0108852860Missing in AT. 2 Publications1
Natural variantiVAR_0108862867G → R in AT. 2 Publications1
Natural variantiVAR_0108892904E → G in AT. 1 PublicationCorresponds to variant rs786202826dbSNPEnsembl.1
Natural variantiVAR_0108902909R → G in AT. 1 Publication1
Natural variantiVAR_0108933008R → C in AT; also found in T-prolymphocytic leukemia and mantle cell lymphoma. 5 PublicationsCorresponds to variant rs587782292dbSNPEnsembl.1

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).

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.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi367S → A: Loss of IR-induced S-367 autophosphorylation. Reduced correction of cell cycle checkpoint defects and DNA-repair activity. No effect on S-1893 nor S-1981 autophosphorylation. 1 Publication1
Mutagenesisi1893S → A: Loss of IR-induced S-1893 autophosphorylation. Reduced correction of cell cycle checkpoint defects and DNA-repair activity. No effect on S-367 nor S-1981 autophosphorylation. 1 Publication1
Mutagenesisi1981S → A: Loss of IR-induced S-1981 autophosphorylation. Reduced correction of cell cycle checkpoint defects and DNA-repair activity. No effect on S-367 nor S-1893 autophosphorylation. No dimer disruption. 2 Publications1
Mutagenesisi1981S → D or E: Disrupts the dimer. 2 Publications1
Mutagenesisi2870D → A: Loss of kinase activity. 1 Publication1
Mutagenesisi2875N → K: Loss of kinase activity. 1 Publication1
Mutagenesisi3016K → R: Loss of DNA damage-inducible acetylation. Retains constitutive kinase activity, but blocks DNA damage-induced kinase activation. Disrupts dimer and abolishes S-1981 autophosphorylation. 1 Publication1
Mutagenesisi3018K → R: Retains DNA damage-inducible acetylation and S-1981 autophosphorylation. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Tumor suppressor

Organism-specific databases

DisGeNETi472.
MalaCardsiATM.
MIMi208900. phenotype.
OpenTargetsiENSG00000149311.
Orphaneti100. Ataxia-telangiectasia.
370109. Ataxia-telangiectasia variant.
67038. B-cell chronic lymphocytic leukemia.
370114. Combined cervical dystonia.
52416. Mantle cell lymphoma.
PharmGKBiPA61.

Chemistry databases

ChEMBLiCHEMBL3797.
DrugBankiDB00201. Caffeine.
GuidetoPHARMACOLOGYi1934.

Polymorphism and mutation databases

BioMutaiATM.
DMDMi317373479.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000888402 – 3056Serine-protein kinase ATMAdd BLAST3055

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei367Phosphoserine; by autocatalysis1 Publication1
Modified residuei1893Phosphoserine; by autocatalysis1 Publication1
Modified residuei1981Phosphoserine; by autocatalysisCombined sources4 Publications1
Modified residuei1983PhosphoserineCombined sources1
Modified residuei2996PhosphoserineCombined sources1
Modified residuei3016N6-acetyllysine1 Publication1

Post-translational modificationi

Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA damage-mediated activation of the kinase.4 Publications
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/TIP60.5 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ13315.
MaxQBiQ13315.
PaxDbiQ13315.
PeptideAtlasiQ13315.
PRIDEiQ13315.

PTM databases

iPTMnetiQ13315.
PhosphoSitePlusiQ13315.

Expressioni

Tissue specificityi

Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.

Inductioni

By ionizing radiation.

Gene expression databases

BgeeiENSG00000149311.
CleanExiHS_ATM.
ExpressionAtlasiQ13315. baseline and differential.
GenevisibleiQ13315. HS.

Organism-specific databases

HPAiCAB000102.
HPA067142.

Interactioni

Subunit structurei

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, up-regulates TP53. Interacts with DCLRE1C, KAT8, KAT5, NABP2, ATMIN and CEP164. Interacts with AP2B1 and AP3B2; the interaction occurs in cytoplasmic vesicles (By similarity). Interacts with TELO2 and TTI1. Interacts with DDX1. Interacts with BRAT1.By similarity18 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
P279583EBI-495465,EBI-6904388From a different organism.
AATFQ9NY613EBI-495465,EBI-372428
ATMINO433135EBI-495465,EBI-7422202
BRAT1Q6PJG63EBI-495465,EBI-10826195
IKBKGQ9Y6K94EBI-495465,EBI-81279
IL24Q130072EBI-495465,EBI-3915542
MDC1Q146762EBI-495465,EBI-495644
NABP2Q9BQ154EBI-495465,EBI-2120336
NAT2P112452EBI-495465,EBI-9057228
TELO2Q9Y4R84EBI-495465,EBI-1043674
TERF1P542742EBI-495465,EBI-710997
TERF1P54274-25EBI-495465,EBI-711018
TTI1O431565EBI-495465,EBI-1055680
WHSC1L1Q9BZ953EBI-495465,EBI-3390132

GO - Molecular functioni

  • protein complex binding Source: BHF-UCL
  • protein dimerization activity Source: BHF-UCL
  • protein N-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi106962. 178 interactors.
DIPiDIP-182N.
IntActiQ13315. 72 interactors.
MINTiMINT-194471.
STRINGi9606.ENSP00000278616.

Chemistry databases

BindingDBiQ13315.

Structurei

3D structure databases

ProteinModelPortaliQ13315.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1960 – 2566FATPROSITE-ProRule annotationAdd BLAST607
Domaini2712 – 2962PI3K/PI4KPROSITE-ProRule annotationAdd BLAST251
Domaini3024 – 3056FATCPROSITE-ProRule annotationAdd BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1373 – 1382Interaction with ABL11 Publication10

Domaini

The FATC domain is required for interaction with KAT5.

Sequence similaritiesi

Belongs to the PI3/PI4-kinase family. ATM subfamily.Curated
Contains 1 FAT domain.PROSITE-ProRule annotation
Contains 1 FATC domain.PROSITE-ProRule annotation
Contains 1 PI3K/PI4K domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0892. Eukaryota.
ENOG410XNPY. LUCA.
GeneTreeiENSGT00670000098061.
HOVERGENiHBG004304.
InParanoidiQ13315.
KOiK04728.
OMAiGVLGCYC.
OrthoDBiEOG091G002B.
PhylomeDBiQ13315.
TreeFamiTF101182.

Family and domain databases

Gene3Di1.10.1070.11. 3 hits.
InterProiIPR016024. ARM-type_fold.
IPR015519. ATM/Tel1.
IPR003152. FATC_dom.
IPR011009. Kinase-like_dom.
IPR000403. PI3/4_kinase_cat_dom.
IPR018936. PI3/4_kinase_CS.
IPR003151. PIK-rel_kinase_FAT.
IPR014009. PIK_FAT.
IPR021668. TAN.
[Graphical view]
PANTHERiPTHR11139:SF72. PTHR11139:SF72. 6 hits.
PfamiPF02259. FAT. 1 hit.
PF02260. FATC. 1 hit.
PF00454. PI3_PI4_kinase. 1 hit.
PF11640. TAN. 1 hit.
[Graphical view]
SMARTiSM01343. FATC. 1 hit.
SM00146. PI3Kc. 1 hit.
SM01342. TAN. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 5 hits.
SSF56112. SSF56112. 2 hits.
PROSITEiPS51189. 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]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q13315-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSLVLNDLLI CCRQLEHDRA TERKKEVEKF KRLIRDPETI KHLDRHSDSK
60 70 80 90 100
QGKYLNWDAV FRFLQKYIQK ETECLRIAKP NVSASTQASR QKKMQEISSL
110 120 130 140 150
VKYFIKCANR RAPRLKCQEL LNYIMDTVKD SSNGAIYGAD CSNILLKDIL
160 170 180 190 200
SVRKYWCEIS QQQWLELFSV YFRLYLKPSQ DVHRVLVARI IHAVTKGCCS
210 220 230 240 250
QTDGLNSKFL DFFSKAIQCA RQEKSSSGLN HILAALTIFL KTLAVNFRIR
260 270 280 290 300
VCELGDEILP TLLYIWTQHR LNDSLKEVII ELFQLQIYIH HPKGAKTQEK
310 320 330 340 350
GAYESTKWRS ILYNLYDLLV NEISHIGSRG KYSSGFRNIA VKENLIELMA
360 370 380 390 400
DICHQVFNED TRSLEISQSY TTTQRESSDY SVPCKRKKIE LGWEVIKDHL
410 420 430 440 450
QKSQNDFDLV PWLQIATQLI SKYPASLPNC ELSPLLMILS QLLPQQRHGE
460 470 480 490 500
RTPYVLRCLT EVALCQDKRS NLESSQKSDL LKLWNKIWCI TFRGISSEQI
510 520 530 540 550
QAENFGLLGA IIQGSLVEVD REFWKLFTGS ACRPSCPAVC CLTLALTTSI
560 570 580 590 600
VPGTVKMGIE QNMCEVNRSF SLKESIMKWL LFYQLEGDLE NSTEVPPILH
610 620 630 640 650
SNFPHLVLEK ILVSLTMKNC KAAMNFFQSV PECEHHQKDK EELSFSEVEE
660 670 680 690 700
LFLQTTFDKM DFLTIVRECG IEKHQSSIGF SVHQNLKESL DRCLLGLSEQ
710 720 730 740 750
LLNNYSSEIT NSETLVRCSR LLVGVLGCYC YMGVIAEEEA YKSELFQKAK
760 770 780 790 800
SLMQCAGESI TLFKNKTNEE FRIGSLRNMM QLCTRCLSNC TKKSPNKIAS
810 820 830 840 850
GFFLRLLTSK LMNDIADICK SLASFIKKPF DRGEVESMED DTNGNLMEVE
860 870 880 890 900
DQSSMNLFND YPDSSVSDAN EPGESQSTIG AINPLAEEYL SKQDLLFLDM
910 920 930 940 950
LKFLCLCVTT AQTNTVSFRA ADIRRKLLML IDSSTLEPTK SLHLHMYLML
960 970 980 990 1000
LKELPGEEYP LPMEDVLELL KPLSNVCSLY RRDQDVCKTI LNHVLHVVKN
1010 1020 1030 1040 1050
LGQSNMDSEN TRDAQGQFLT VIGAFWHLTK ERKYIFSVRM ALVNCLKTLL
1060 1070 1080 1090 1100
EADPYSKWAI LNVMGKDFPV NEVFTQFLAD NHHQVRMLAA ESINRLFQDT
1110 1120 1130 1140 1150
KGDSSRLLKA LPLKLQQTAF ENAYLKAQEG MREMSHSAEN PETLDEIYNR
1160 1170 1180 1190 1200
KSVLLTLIAV VLSCSPICEK QALFALCKSV KENGLEPHLV KKVLEKVSET
1210 1220 1230 1240 1250
FGYRRLEDFM ASHLDYLVLE WLNLQDTEYN LSSFPFILLN YTNIEDFYRS
1260 1270 1280 1290 1300
CYKVLIPHLV IRSHFDEVKS IANQIQEDWK SLLTDCFPKI LVNILPYFAY
1310 1320 1330 1340 1350
EGTRDSGMAQ QRETATKVYD MLKSENLLGK QIDHLFISNL PEIVVELLMT
1360 1370 1380 1390 1400
LHEPANSSAS QSTDLCDFSG DLDPAPNPPH FPSHVIKATF AYISNCHKTK
1410 1420 1430 1440 1450
LKSILEILSK SPDSYQKILL AICEQAAETN NVYKKHRILK IYHLFVSLLL
1460 1470 1480 1490 1500
KDIKSGLGGA WAFVLRDVIY TLIHYINQRP SCIMDVSLRS FSLCCDLLSQ
1510 1520 1530 1540 1550
VCQTAVTYCK DALENHLHVI VGTLIPLVYE QVEVQKQVLD LLKYLVIDNK
1560 1570 1580 1590 1600
DNENLYITIK LLDPFPDHVV FKDLRITQQK IKYSRGPFSL LEEINHFLSV
1610 1620 1630 1640 1650
SVYDALPLTR LEGLKDLRRQ LELHKDQMVD IMRASQDNPQ DGIMVKLVVN
1660 1670 1680 1690 1700
LLQLSKMAIN HTGEKEVLEA VGSCLGEVGP IDFSTIAIQH SKDASYTKAL
1710 1720 1730 1740 1750
KLFEDKELQW TFIMLTYLNN TLVEDCVKVR SAAVTCLKNI LATKTGHSFW
1760 1770 1780 1790 1800
EIYKMTTDPM LAYLQPFRTS RKKFLEVPRF DKENPFEGLD DINLWIPLSE
1810 1820 1830 1840 1850
NHDIWIKTLT CAFLDSGGTK CEILQLLKPM CEVKTDFCQT VLPYLIHDIL
1860 1870 1880 1890 1900
LQDTNESWRN LLSTHVQGFF TSCLRHFSQT SRSTTPANLD SESEHFFRCC
1910 1920 1930 1940 1950
LDKKSQRTML AVVDYMRRQK RPSSGTIFND AFWLDLNYLE VAKVAQSCAA
1960 1970 1980 1990 2000
HFTALLYAEI YADKKSMDDQ EKRSLAFEEG SQSTTISSLS EKSKEETGIS
2010 2020 2030 2040 2050
LQDLLLEIYR SIGEPDSLYG CGGGKMLQPI TRLRTYEHEA MWGKALVTYD
2060 2070 2080 2090 2100
LETAIPSSTR QAGIIQALQN LGLCHILSVY LKGLDYENKD WCPELEELHY
2110 2120 2130 2140 2150
QAAWRNMQWD HCTSVSKEVE GTSYHESLYN ALQSLRDREF STFYESLKYA
2160 2170 2180 2190 2200
RVKEVEEMCK RSLESVYSLY PTLSRLQAIG ELESIGELFS RSVTHRQLSE
2210 2220 2230 2240 2250
VYIKWQKHSQ LLKDSDFSFQ EPIMALRTVI LEILMEKEMD NSQRECIKDI
2260 2270 2280 2290 2300
LTKHLVELSI LARTFKNTQL PERAIFQIKQ YNSVSCGVSE WQLEEAQVFW
2310 2320 2330 2340 2350
AKKEQSLALS ILKQMIKKLD ASCAANNPSL KLTYTECLRV CGNWLAETCL
2360 2370 2380 2390 2400
ENPAVIMQTY LEKAVEVAGN YDGESSDELR NGKMKAFLSL ARFSDTQYQR
2410 2420 2430 2440 2450
IENYMKSSEF ENKQALLKRA KEEVGLLREH KIQTNRYTVK VQRELELDEL
2460 2470 2480 2490 2500
ALRALKEDRK RFLCKAVENY INCLLSGEEH DMWVFRLCSL WLENSGVSEV
2510 2520 2530 2540 2550
NGMMKRDGMK IPTYKFLPLM YQLAARMGTK MMGGLGFHEV LNNLISRISM
2560 2570 2580 2590 2600
DHPHHTLFII LALANANRDE FLTKPEVARR SRITKNVPKQ SSQLDEDRTE
2610 2620 2630 2640 2650
AANRIICTIR SRRPQMVRSV EALCDAYIIL ANLDATQWKT QRKGINIPAD
2660 2670 2680 2690 2700
QPITKLKNLE DVVVPTMEIK VDHTGEYGNL VTIQSFKAEF RLAGGVNLPK
2710 2720 2730 2740 2750
IIDCVGSDGK ERRQLVKGRD DLRQDAVMQQ VFQMCNTLLQ RNTETRKRKL
2760 2770 2780 2790 2800
TICTYKVVPL SQRSGVLEWC TGTVPIGEFL VNNEDGAHKR YRPNDFSAFQ
2810 2820 2830 2840 2850
CQKKMMEVQK KSFEEKYEVF MDVCQNFQPV FRYFCMEKFL DPAIWFEKRL
2860 2870 2880 2890 2900
AYTRSVATSS IVGYILGLGD RHVQNILINE QSAELVHIDL GVAFEQGKIL
2910 2920 2930 2940 2950
PTPETVPFRL TRDIVDGMGI TGVEGVFRRC CEKTMEVMRN SQETLLTIVE
2960 2970 2980 2990 3000
VLLYDPLFDW TMNPLKALYL QQRPEDETEL HPTLNADDQE CKRNLSDIDQ
3010 3020 3030 3040 3050
SFNKVAERVL MRLQEKLKGV EEGTVLSVGG QVNLLIQQAI DPKNLSRLFP

GWKAWV
Length:3,056
Mass (Da):350,687
Last modified:January 22, 2014 - v4
Checksum:iC0B4866E1E3199E2
GO

Sequence cautioni

The sequence AAA86520 differs from that shown. Probable cloning artifact.Curated
The sequence AAA86520 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI37170 differs from that shown. Probable cloning artifact.Curated
The sequence AAI37170 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence EAW67111 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti46H → N in CAA62603 (PubMed:8789452).Curated1
Sequence conflicti56N → I in CAA62603 (PubMed:8789452).Curated1
Sequence conflicti313Y → N in CAA62603 (PubMed:8789452).Curated1
Sequence conflicti488W → G in CAA62603 (PubMed:8789452).Curated1
Sequence conflicti554T → A in AAC50289 (PubMed:8589678).Curated1
Sequence conflicti750K → N in AAC50289 (PubMed:8589678).Curated1
Sequence conflicti754Q → K in CAA62603 (PubMed:8789452).Curated1
Sequence conflicti887E → G in CAA62603 (PubMed:8789452).Curated1
Sequence conflicti1003Q → L in CAA62603 (PubMed:8789452).Curated1
Sequence conflicti1049L → W in CAA62603 (PubMed:8789452).Curated1
Sequence conflicti1089A → V in CAA62603 (PubMed:8789452).Curated1
Sequence conflicti3003N → D in AAC50289 (PubMed:8589678).Curated1
Sequence conflicti3003N → D in AAB38309 (PubMed:8665503).Curated1
Sequence conflicti3003N → D in AAB38310 (PubMed:8665503).Curated1
Sequence conflicti3003N → D in AAA86520 (PubMed:7792600).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04154523R → Q in a colorectal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant rs587779858dbSNPEnsembl.1
Natural variantiVAR_05667845R → W.Corresponds to variant rs3218684dbSNPEnsembl.1
Natural variantiVAR_01079849S → C.5 PublicationsCorresponds to variant rs1800054dbSNPEnsembl.1
Natural variantiVAR_010799126D → E.2 PublicationsCorresponds to variant rs2234997dbSNPEnsembl.1
Natural variantiVAR_041546140D → H.1 PublicationCorresponds to variant rs55633650dbSNPEnsembl.1
Natural variantiVAR_010800182V → L.1 PublicationCorresponds to variant rs3218707dbSNPEnsembl.1
Natural variantiVAR_010801224K → E in AT. 1 PublicationCorresponds to variant rs145053092dbSNPEnsembl.1
Natural variantiVAR_041547250R → Q.1 PublicationCorresponds to variant rs56123940dbSNPEnsembl.1
Natural variantiVAR_010802292P → L in AT; associated with lymphoma. 1 PublicationCorresponds to variant rs747727055dbSNPEnsembl.1
Natural variantiVAR_010803323I → V in AT. 1 PublicationCorresponds to variant rs587781511dbSNPEnsembl.1
Natural variantiVAR_010804332Y → C in B-cell chronic lymphocytic leukemia. 1 Publication1
Natural variantiVAR_041548333S → F.1 PublicationCorresponds to variant rs28904919dbSNPEnsembl.1
Natural variantiVAR_041549337R → C in a colorectal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant rs138398778dbSNPEnsembl.1
Natural variantiVAR_041550337R → H in a colorectal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant rs202160435dbSNPEnsembl.1
Natural variantiVAR_010805350A → T in B-cell chronic lymphocytic leukemia. 1 Publication1
Natural variantiVAR_010806352I → T in B-cell chronic lymphocytic leukemia. 1 PublicationCorresponds to variant rs369203092dbSNPEnsembl.1
Natural variantiVAR_041551410V → A.1 PublicationCorresponds to variant rs56128736dbSNPEnsembl.1
Natural variantiVAR_041552504N → S.1 PublicationCorresponds to variant rs56365018dbSNPEnsembl.1
Natural variantiVAR_010807514G → D.2 PublicationsCorresponds to variant rs2235000dbSNPEnsembl.1
Natural variantiVAR_041553540C → Y in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_041554546L → V.1 PublicationCorresponds to variant rs2227924dbSNPEnsembl.1
Natural variantiVAR_010808570F → S in AT. 1 PublicationCorresponds to variant rs777301065dbSNPEnsembl.1
Natural variantiVAR_041555582F → L.1 PublicationCorresponds to variant rs2235006dbSNPEnsembl.1
Natural variantiVAR_010809705 – 707YSS → FIP in AT; might be associated with susceptibility to cancer. 3
Natural variantiVAR_010810707S → P.2 PublicationsCorresponds to variant rs4986761dbSNPEnsembl.1
Natural variantiVAR_056679761T → S.Corresponds to variant rs2235011dbSNPEnsembl.1
Natural variantiVAR_010812768N → D in AT. 1 Publication1
Natural variantiVAR_010813785R → C in AT. 1 PublicationCorresponds to variant rs587778065dbSNPEnsembl.1
Natural variantiVAR_056680788S → R.Corresponds to variant rs641252dbSNPEnsembl.1
Natural variantiVAR_056681814D → E.Corresponds to variant rs3218695dbSNPEnsembl.1
Natural variantiVAR_041556848E → Q in a lung adenocarcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_010814858F → L Rare polymorphism. 6 PublicationsCorresponds to variant rs1800056dbSNPEnsembl.1
Natural variantiVAR_041557872P → S.1 PublicationCorresponds to variant rs3218673dbSNPEnsembl.1
Natural variantiVAR_041558924R → W.1 PublicationCorresponds to variant rs55723361dbSNPEnsembl.1
Natural variantiVAR_041559935T → A.1 PublicationCorresponds to variant rs35813135dbSNPEnsembl.1
Natural variantiVAR_056682935T → M.Corresponds to variant rs3218708dbSNPEnsembl.1
Natural variantiVAR_056683942L → F.Corresponds to variant rs3218688dbSNPEnsembl.1
Natural variantiVAR_010815950L → R in AT. Corresponds to variant rs786203054dbSNPEnsembl.1
Natural variantiVAR_0108161001L → Q in AT; associated with T-cell acute lymphoblastic leukemia. 1 Publication1
Natural variantiVAR_0108171040M → V Found in B-cell non-Hodgkin lymphoma; unknown pathological significance. 1 PublicationCorresponds to variant rs3092857dbSNPEnsembl.1
Natural variantiVAR_0108181054P → R.8 PublicationsCorresponds to variant rs1800057dbSNPEnsembl.1
Natural variantiVAR_0108191082H → L in AT. 1
Natural variantiVAR_0108201091E → D in AT. 1 Publication1
Natural variantiVAR_0415601179S → F in a gastric adenocarcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0566841313E → Q.Corresponds to variant rs3092841dbSNPEnsembl.1
Natural variantiVAR_0415611321M → I.1 PublicationCorresponds to variant rs35184530dbSNPEnsembl.1
Natural variantiVAR_0415621380H → Y.1 PublicationCorresponds to variant rs3092856dbSNPEnsembl.1
Natural variantiVAR_0415631382P → S.1 PublicationCorresponds to variant rs55859590dbSNPEnsembl.1
Natural variantiVAR_0108211407I → T in T-prolymphocytic leukemia. 1 Publication1
Natural variantiVAR_0108221420L → F Rare polymorphism. 4 PublicationsCorresponds to variant rs1800058dbSNPEnsembl.1
Natural variantiVAR_0108231420L → P in AT. 1 Publication1
Natural variantiVAR_0566851427A → T.Corresponds to variant rs2229021dbSNPEnsembl.1
Natural variantiVAR_0108241454K → N.1 PublicationCorresponds to variant rs148993589dbSNPEnsembl.1
Natural variantiVAR_0108251463F → S Found in B-cell non-Hodgkin lymphoma; unknown pathological significance. 1 Publication1
Natural variantiVAR_0108261465L → P in AT. 1 PublicationCorresponds to variant rs730881391dbSNPEnsembl.1
Natural variantiVAR_0415641469I → M in a renal papillary cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs775047783dbSNPEnsembl.1
Natural variantiVAR_0415651475Y → C.1 PublicationCorresponds to variant rs34640941dbSNPEnsembl.1
Natural variantiVAR_0566861541L → F.Corresponds to variant rs3092849dbSNPEnsembl.1
Natural variantiVAR_0108271566P → R in AT. 1 Publication1
Natural variantiVAR_0108281570V → A.1 PublicationCorresponds to variant rs140856217dbSNPEnsembl.1
Natural variantiVAR_0415661650N → S.1 PublicationCorresponds to variant rs55870064dbSNPEnsembl.1
Natural variantiVAR_0108291682D → H in T-prolymphocytic leukemia. 1 PublicationCorresponds to variant rs121434217dbSNPEnsembl.1
Natural variantiVAR_0108301691S → R in AT and B-cell chronic lymphocytic leukemia; unknown pathological significance. 3 PublicationsCorresponds to variant rs1800059dbSNPEnsembl.1
Natural variantiVAR_0566871729V → L.Corresponds to variant rs3092907dbSNPEnsembl.1
Natural variantiVAR_0415671739N → T in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0108311743T → I in AT; associated with preleukemic T-cell proliferation. 1 PublicationCorresponds to variant rs587779844dbSNPEnsembl.1
Natural variantiVAR_0108321812 – 1813AF → V in AT. 1 Publication2
Natural variantiVAR_0108331853D → N Common polymorphism. 6 PublicationsCorresponds to variant rs1801516dbSNPEnsembl.1
Natural variantiVAR_0108341853D → V Might contribute to B-cell chronic lymphocytic leukemia. 5 PublicationsCorresponds to variant rs1801673dbSNPEnsembl.1
Natural variantiVAR_0108351910L → H in T-prolymphocytic leukemia. 1 Publication1
Natural variantiVAR_0108361913V → G in AT. 1 Publication1
Natural variantiVAR_0415681916M → I in a breast pleomorphic lobular carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0415691945A → T in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0108371953T → R in B-cell chronic lymphocytic leukemia. 1 Publication1
Natural variantiVAR_0415701961Y → C.1 Publication