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Q13315

- ATM_HUMAN

UniProt

Q13315 - ATM_HUMAN

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Protein

Serine-protein kinase ATM

Gene
ATM
Organism
Homo sapiens (Human)
Status
Reviewed - 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. 1-phosphatidylinositol-3-kinase activity Source: UniProtKB
  2. ATP binding Source: UniProtKB-KW
  3. DNA binding Source: UniProtKB-KW
  4. DNA-dependent protein kinase activity Source: BHF-UCL
  5. histone serine kinase activity Source: Ensembl
  6. protein binding Source: UniProtKB
  7. protein complex binding Source: BHF-UCL
  8. protein dimerization activity Source: BHF-UCL
  9. protein N-terminus binding Source: UniProtKB
  10. protein serine/threonine kinase activity Source: UniProtKB

GO - Biological processi

  1. brain development Source: Ensembl
  2. cell cycle arrest Source: BHF-UCL
  3. cellular response to DNA damage stimulus Source: UniProtKB
  4. cellular response to gamma radiation Source: BHF-UCL
  5. DNA damage induced protein phosphorylation Source: BHF-UCL
  6. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest Source: Reactome
  7. DNA repair Source: Reactome
  8. double-strand break repair Source: Reactome
  9. double-strand break repair via homologous recombination Source: Reactome
  10. heart development Source: Ensembl
  11. histone mRNA catabolic process Source: UniProtKB
  12. intrinsic apoptotic signaling pathway in response to DNA damage Source: Ensembl
  13. lipoprotein catabolic process Source: Ensembl
  14. mitotic spindle assembly checkpoint Source: UniProtKB
  15. negative regulation of B cell proliferation Source: UniProtKB
  16. neuron apoptotic process Source: Ensembl
  17. oocyte development Source: Ensembl
  18. peptidyl-serine phosphorylation Source: BHF-UCL
  19. phosphatidylinositol-3-phosphate biosynthetic process Source: GOC
  20. positive regulation of apoptotic process Source: UniProtKB
  21. positive regulation of DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
  22. positive regulation of neuron apoptotic process Source: Ensembl
  23. pre-B cell allelic exclusion Source: UniProtKB
  24. protein autophosphorylation Source: BHF-UCL
  25. protein phosphorylation Source: UniProtKB
  26. reciprocal meiotic recombination Source: ProtInc
  27. replicative senescence Source: BHF-UCL
  28. response to hypoxia Source: Ensembl
  29. response to ionizing radiation Source: UniProtKB
  30. signal transduction Source: ProtInc
  31. signal transduction involved in mitotic G2 DNA damage checkpoint Source: BHF-UCL
  32. somitogenesis Source: Ensembl
  33. telomere maintenance Source: InterPro
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

ReactomeiREACT_1614. Ubiquitin Mediated Degradation of Phosphorylated Cdc25A.
REACT_169185. DNA Damage/Telomere Stress Induced Senescence.
REACT_18265. Regulation of the Fanconi anemia pathway.
REACT_1924. ATM mediated phosphorylation of repair proteins.
REACT_200780. Regulation of HSF1-mediated heat shock response.
REACT_204. ATM mediated response to DNA double-strand break.
REACT_20549. Autodegradation of the E3 ubiquitin ligase COP1.
REACT_27271. Meiotic recombination.
REACT_309. Stabilization of p53.
REACT_897. G2/M DNA damage checkpoint.
REACT_97. Recruitment of repair and signaling proteins to double-strand breaks.
SignaLinkiQ13315.

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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:795. ATM.

Subcellular locationi

Nucleus. Cytoplasmic vesicle
Note: Primarily nuclear. Found also in endocytic vesicles in association with beta-adaptin.2 Publications

GO - Cellular componenti

  1. cytoplasmic membrane-bounded vesicle Source: UniProtKB-SubCell
  2. nucleoplasm Source: Reactome
  3. spindle Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Nucleus

Pathology & Biotechi

Involvement in diseasei

Ataxia telangiectasia (AT) [MIM:208900]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.30 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti224 – 2241K → E in AT. 1 Publication
VAR_010801
Natural varianti292 – 2921P → L in AT; associated with lymphoma. 1 Publication
VAR_010802
Natural varianti323 – 3231I → V in AT. 1 Publication
VAR_010803
Natural varianti570 – 5701F → S in AT. 1 Publication
VAR_010808
Natural varianti705 – 7073YSS → FIP in AT; might be associated with susceptibility to cancer.
VAR_010809
Natural varianti768 – 7681N → D in AT. 1 Publication
VAR_010812
Natural varianti785 – 7851R → C in AT. 1 Publication
VAR_010813
Natural varianti950 – 9501L → R in AT.
VAR_010815
Natural varianti1001 – 10011L → Q in AT; associated with T-cell acute lymphoblastic leukemia. 1 Publication
VAR_010816
Natural varianti1082 – 10821H → L in AT.
VAR_010819
Natural varianti1091 – 10911E → D in AT. 1 Publication
VAR_010820
Natural varianti1420 – 14201L → P in AT. 1 Publication
VAR_010823
Natural varianti1465 – 14651L → P in AT. 1 Publication
VAR_010826
Natural varianti1566 – 15661P → R in AT. 1 Publication
VAR_010827
Natural varianti1691 – 16911S → R in AT and B-cell chronic lymphocytic leukemia; unknown pathological significance. 3 Publications
Corresponds to variant rs1800059 [ dbSNP | Ensembl ].
VAR_010830
Natural varianti1743 – 17431T → I in AT; associated with preleukemic T-cell proliferation. 1 Publication
VAR_010831
Natural varianti1812 – 18132AF → V in AT.
VAR_010832
Natural varianti1913 – 19131V → G in AT. 1 Publication
VAR_010836
Natural varianti2016 – 20161D → G in AT. 1 Publication
VAR_010838
Natural varianti2063 – 20631G → E in AT.
VAR_010839
Natural varianti2067 – 20671A → D in AT. 1 Publication
VAR_010840
Natural varianti2218 – 22181S → C in AT. 1 Publication
VAR_010844
Natural varianti2224 – 22274MALR → IS in AT.
VAR_010845
Natural varianti2227 – 22271R → C in AT. 1 Publication
VAR_010846
Natural varianti2246 – 22527CIKDILT → H in AT.
VAR_010847
Natural varianti2424 – 24241V → G in AT, B-cell chronic lymphocytic leukemia and T-prolymphocytic leukemia; associated with increased risk for breast cancer. 4 Publications
VAR_010854
Natural varianti2427 – 24282Missing in AT; associated with T-prolymphocytic leukemia.
VAR_010855
Natural varianti2470 – 24701Y → D in AT. 1 Publication
VAR_010858
Natural varianti2491 – 24911W → R in AT. 1 Publication
VAR_010860
Natural varianti2546 – 25483Missing in AT, T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia.
VAR_010861
Natural varianti2554 – 25541H → D in AT. 1 Publication
VAR_010862
Natural varianti2625 – 26262DA → EP in AT.
VAR_010864
Natural varianti2625 – 26251D → Q in AT; requires 2 nucleotide substitutions. 1 Publication
VAR_010863
Natural varianti2656 – 26561L → P in AT; partial functional loss. 1 Publication
VAR_010865
Natural varianti2662 – 26621Missing in AT. 1 Publication
VAR_010866
Natural varianti2663 – 26631Missing in AT.
VAR_010867
Natural varianti2668 – 26681E → G in AT. 1 Publication
VAR_010868
Natural varianti2702 – 27021I → R in AT.
VAR_010870
Natural varianti2726 – 27261A → V in AT.
VAR_010874
Natural varianti2824 – 28241C → Y in AT. 1 Publication
VAR_010878
Natural varianti2827 – 28271F → C in AT; mild. 2 Publications
VAR_010879
Natural varianti2829 – 28291P → L in AT. 1 Publication
VAR_010880
Natural varianti2832 – 28321R → C in AT and B-cell non-Hodgkin lymphoma. 3 Publications
VAR_010881
Natural varianti2849 – 28491R → P in AT. 1 Publication
VAR_010882
Natural varianti2855 – 28562SV → RI in AT.
VAR_010884
Natural varianti2855 – 28551S → R in AT.
VAR_010883
Natural varianti2860 – 28601Missing in AT. 2 Publications
VAR_010885
Natural varianti2867 – 28671G → R in AT. 2 Publications
VAR_010886
Natural varianti2904 – 29041E → G in AT. 1 Publication
VAR_010889
Natural varianti2909 – 29091R → G in AT. 1 Publication
VAR_010890
Natural varianti3008 – 30081R → C in AT, T-prolymphocytic leukemia and mantle cell lymphoma. 5 Publications
VAR_010893
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).1 Publication
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.3 Publications

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi367 – 3671S → 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 Publication
Mutagenesisi1893 – 18931S → 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 Publication
Mutagenesisi1981 – 19811S → 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 Publications
Mutagenesisi1981 – 19811S → D or E: Disrupts the dimer. 2 Publications
Mutagenesisi2870 – 28701D → A: Loss of kinase activity. 1 Publication
Mutagenesisi2875 – 28751N → K: Loss of kinase activity. 1 Publication
Mutagenesisi3016 – 30161K → 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 Publication
Mutagenesisi3018 – 30181K → R: Retains DNA damage-inducible acetylation and S-1981 autophosphorylation. 1 Publication

Keywords - Diseasei

Disease mutation, Neurodegeneration, Tumor suppressor

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 30563055Serine-protein kinase ATMPRO_0000088840Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine1 Publication
Modified residuei367 – 3671Phosphoserine; by autocatalysis1 Publication
Modified residuei1893 – 18931Phosphoserine; by autocatalysis1 Publication
Modified residuei1981 – 19811Phosphoserine; by autocatalysis5 Publications
Modified residuei1983 – 19831Phosphoserine1 Publication
Modified residuei2996 – 29961Phosphoserine2 Publications
Modified residuei3016 – 30161N6-acetyllysine1 Publication

Post-translational modificationi

Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA damage-mediated activation of the kinase.15 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/TIP60.2 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiQ13315.
PRIDEiQ13315.

PTM databases

PhosphoSiteiQ13315.

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.1 Publication

Gene expression databases

ArrayExpressiQ13315.
BgeeiQ13315.
CleanExiHS_ATM.
GenevestigatoriQ13315.

Organism-specific databases

HPAiCAB000102.

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 DDX1.17 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi106962. 119 interactions.
DIPiDIP-182N.
IntActiQ13315. 33 interactions.
MINTiMINT-194471.
STRINGi9606.ENSP00000278616.

Structurei

3D structure databases

ProteinModelPortaliQ13315.
SMRiQ13315. Positions 3025-3055.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1960 – 2566607FATAdd
BLAST
Domaini2712 – 2962251PI3K/PI4KAdd
BLAST
Domaini3024 – 305633FATCAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1373 – 138210Interaction with ABL1

Domaini

The FATC domain is required for interaction with KAT5.

Sequence similaritiesi

Contains 1 FAT domain.
Contains 1 FATC domain.
Contains 1 PI3K/PI4K domain.

Phylogenomic databases

eggNOGiCOG5032.
HOVERGENiHBG004304.
InParanoidiQ13315.
KOiK04728.
PhylomeDBiQ13315.
TreeFamiTF101182.

Family and domain databases

Gene3Di1.10.1070.11. 3 hits.
InterProiIPR016024. ARM-type_fold.
IPR015519. ATM.
IPR003152. FATC.
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:SF66. PTHR11139:SF66. 1 hit.
PfamiPF02259. FAT. 1 hit.
PF02260. FATC. 1 hit.
PF00454. PI3_PI4_kinase. 1 hit.
PF11640. TAN. 1 hit.
[Graphical view]
SMARTiSM00146. PI3Kc. 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

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MSLVLNDLLI CCRQLEHDRA TERKKEVEKF KRLIRDPETI KHLDRHSDSK     50
QGKYLNWDAV FRFLQKYIQK ETECLRIAKP NVSASTQASR QKKMQEISSL 100
VKYFIKCANR RAPRLKCQEL LNYIMDTVKD SSNGAIYGAD CSNILLKDIL 150
SVRKYWCEIS QQQWLELFSV YFRLYLKPSQ DVHRVLVARI IHAVTKGCCS 200
QTDGLNSKFL DFFSKAIQCA RQEKSSSGLN HILAALTIFL KTLAVNFRIR 250
VCELGDEILP TLLYIWTQHR LNDSLKEVII ELFQLQIYIH HPKGAKTQEK 300
GAYESTKWRS ILYNLYDLLV NEISHIGSRG KYSSGFRNIA VKENLIELMA 350
DICHQVFNED TRSLEISQSY TTTQRESSDY SVPCKRKKIE LGWEVIKDHL 400
QKSQNDFDLV PWLQIATQLI SKYPASLPNC ELSPLLMILS QLLPQQRHGE 450
RTPYVLRCLT EVALCQDKRS NLESSQKSDL LKLWNKIWCI TFRGISSEQI 500
QAENFGLLGA IIQGSLVEVD REFWKLFTGS ACRPSCPAVC CLTLALTTSI 550
VPGTVKMGIE QNMCEVNRSF SLKESIMKWL LFYQLEGDLE NSTEVPPILH 600
SNFPHLVLEK ILVSLTMKNC KAAMNFFQSV PECEHHQKDK EELSFSEVEE 650
LFLQTTFDKM DFLTIVRECG IEKHQSSIGF SVHQNLKESL DRCLLGLSEQ 700
LLNNYSSEIT NSETLVRCSR LLVGVLGCYC YMGVIAEEEA YKSELFQKAK 750
SLMQCAGESI TLFKNKTNEE FRIGSLRNMM QLCTRCLSNC TKKSPNKIAS 800
GFFLRLLTSK LMNDIADICK SLASFIKKPF DRGEVESMED DTNGNLMEVE 850
DQSSMNLFND YPDSSVSDAN EPGESQSTIG AINPLAEEYL SKQDLLFLDM 900
LKFLCLCVTT AQTNTVSFRA ADIRRKLLML IDSSTLEPTK SLHLHMYLML 950
LKELPGEEYP LPMEDVLELL KPLSNVCSLY RRDQDVCKTI LNHVLHVVKN 1000
LGQSNMDSEN TRDAQGQFLT VIGAFWHLTK ERKYIFSVRM ALVNCLKTLL 1050
EADPYSKWAI LNVMGKDFPV NEVFTQFLAD NHHQVRMLAA ESINRLFQDT 1100
KGDSSRLLKA LPLKLQQTAF ENAYLKAQEG MREMSHSAEN PETLDEIYNR 1150
KSVLLTLIAV VLSCSPICEK QALFALCKSV KENGLEPHLV KKVLEKVSET 1200
FGYRRLEDFM ASHLDYLVLE WLNLQDTEYN LSSFPFILLN YTNIEDFYRS 1250
CYKVLIPHLV IRSHFDEVKS IANQIQEDWK SLLTDCFPKI LVNILPYFAY 1300
EGTRDSGMAQ QRETATKVYD MLKSENLLGK QIDHLFISNL PEIVVELLMT 1350
LHEPANSSAS QSTDLCDFSG DLDPAPNPPH FPSHVIKATF AYISNCHKTK 1400
LKSILEILSK SPDSYQKILL AICEQAAETN NVYKKHRILK IYHLFVSLLL 1450
KDIKSGLGGA WAFVLRDVIY TLIHYINQRP SCIMDVSLRS FSLCCDLLSQ 1500
VCQTAVTYCK DALENHLHVI VGTLIPLVYE QVEVQKQVLD LLKYLVIDNK 1550
DNENLYITIK LLDPFPDHVV FKDLRITQQK IKYSRGPFSL LEEINHFLSV 1600
SVYDALPLTR LEGLKDLRRQ LELHKDQMVD IMRASQDNPQ DGIMVKLVVN 1650
LLQLSKMAIN HTGEKEVLEA VGSCLGEVGP IDFSTIAIQH SKDASYTKAL 1700
KLFEDKELQW TFIMLTYLNN TLVEDCVKVR SAAVTCLKNI LATKTGHSFW 1750
EIYKMTTDPM LAYLQPFRTS RKKFLEVPRF DKENPFEGLD DINLWIPLSE 1800
NHDIWIKTLT CAFLDSGGTK CEILQLLKPM CEVKTDFCQT VLPYLIHDIL 1850
LQDTNESWRN LLSTHVQGFF TSCLRHFSQT SRSTTPANLD SESEHFFRCC 1900
LDKKSQRTML AVVDYMRRQK RPSSGTIFND AFWLDLNYLE VAKVAQSCAA 1950
HFTALLYAEI YADKKSMDDQ EKRSLAFEEG SQSTTISSLS EKSKEETGIS 2000
LQDLLLEIYR SIGEPDSLYG CGGGKMLQPI TRLRTYEHEA MWGKALVTYD 2050
LETAIPSSTR QAGIIQALQN LGLCHILSVY LKGLDYENKD WCPELEELHY 2100
QAAWRNMQWD HCTSVSKEVE GTSYHESLYN ALQSLRDREF STFYESLKYA 2150
RVKEVEEMCK RSLESVYSLY PTLSRLQAIG ELESIGELFS RSVTHRQLSE 2200
VYIKWQKHSQ LLKDSDFSFQ EPIMALRTVI LEILMEKEMD NSQRECIKDI 2250
LTKHLVELSI LARTFKNTQL PERAIFQIKQ YNSVSCGVSE WQLEEAQVFW 2300
AKKEQSLALS ILKQMIKKLD ASCAANNPSL KLTYTECLRV CGNWLAETCL 2350
ENPAVIMQTY LEKAVEVAGN YDGESSDELR NGKMKAFLSL ARFSDTQYQR 2400
IENYMKSSEF ENKQALLKRA KEEVGLLREH KIQTNRYTVK VQRELELDEL 2450
ALRALKEDRK RFLCKAVENY INCLLSGEEH DMWVFRLCSL WLENSGVSEV 2500
NGMMKRDGMK IPTYKFLPLM YQLAARMGTK MMGGLGFHEV LNNLISRISM 2550
DHPHHTLFII LALANANRDE FLTKPEVARR SRITKNVPKQ SSQLDEDRTE 2600
AANRIICTIR SRRPQMVRSV EALCDAYIIL ANLDATQWKT QRKGINIPAD 2650
QPITKLKNLE DVVVPTMEIK VDHTGEYGNL VTIQSFKAEF RLAGGVNLPK 2700
IIDCVGSDGK ERRQLVKGRD DLRQDAVMQQ VFQMCNTLLQ RNTETRKRKL 2750
TICTYKVVPL SQRSGVLEWC TGTVPIGEFL VNNEDGAHKR YRPNDFSAFQ 2800
CQKKMMEVQK KSFEEKYEVF MDVCQNFQPV FRYFCMEKFL DPAIWFEKRL 2850
AYTRSVATSS IVGYILGLGD RHVQNILINE QSAELVHIDL GVAFEQGKIL 2900
PTPETVPFRL TRDIVDGMGI TGVEGVFRRC CEKTMEVMRN SQETLLTIVE 2950
VLLYDPLFDW TMNPLKALYL QQRPEDETEL HPTLNADDQE CKRNLSDIDQ 3000
SFNKVAERVL MRLQEKLKGV EEGTVLSVGG QVNLLIQQAI DPKNLSRLFP 3050
GWKAWV 3056
Length:3,056
Mass (Da):350,687
Last modified:January 22, 2014 - v4
Checksum:iC0B4866E1E3199E2
GO

Sequence cautioni

The sequence AAA86520.1 differs from that shown. Reason: Probable cloning artifact.
The sequence AAI37170.1 differs from that shown. Reason: Probable cloning artifact.
The sequence AAA86520.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAI37170.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence EAW67111.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231R → Q in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041545
Natural varianti45 – 451R → W.
Corresponds to variant rs3218684 [ dbSNP | Ensembl ].
VAR_056678
Natural varianti49 – 491S → C.5 Publications
Corresponds to variant rs1800054 [ dbSNP | Ensembl ].
VAR_010798
Natural varianti126 – 1261D → E.2 Publications
Corresponds to variant rs2234997 [ dbSNP | Ensembl ].
VAR_010799
Natural varianti140 – 1401D → H.1 Publication
VAR_041546
Natural varianti182 – 1821V → L.1 Publication
Corresponds to variant rs3218707 [ dbSNP | Ensembl ].
VAR_010800
Natural varianti224 – 2241K → E in AT. 1 Publication
VAR_010801
Natural varianti250 – 2501R → Q.1 Publication
VAR_041547
Natural varianti292 – 2921P → L in AT; associated with lymphoma. 1 Publication
VAR_010802
Natural varianti323 – 3231I → V in AT. 1 Publication
VAR_010803
Natural varianti332 – 3321Y → C in B-cell chronic lymphocytic leukemia. 1 Publication
VAR_010804
Natural varianti333 – 3331S → F.1 Publication
Corresponds to variant rs28904919 [ dbSNP | Ensembl ].
VAR_041548
Natural varianti337 – 3371R → C in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041549
Natural varianti337 – 3371R → H in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041550
Natural varianti350 – 3501A → T in B-cell chronic lymphocytic leukemia. 1 Publication
VAR_010805
Natural varianti352 – 3521I → T in B-cell chronic lymphocytic leukemia. 1 Publication
VAR_010806
Natural varianti410 – 4101V → A.1 Publication
VAR_041551
Natural varianti504 – 5041N → S.1 Publication
Corresponds to variant rs56365018 [ dbSNP | Ensembl ].
VAR_041552
Natural varianti514 – 5141G → D.2 Publications
Corresponds to variant rs2235000 [ dbSNP | Ensembl ].
VAR_010807
Natural varianti540 – 5401C → Y in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041553
Natural varianti546 – 5461L → V.1 Publication
Corresponds to variant rs2227924 [ dbSNP | Ensembl ].
VAR_041554
Natural varianti570 – 5701F → S in AT. 1 Publication
VAR_010808
Natural varianti582 – 5821F → L.1 Publication
Corresponds to variant rs2235006 [ dbSNP | Ensembl ].
VAR_041555
Natural varianti705 – 7073YSS → FIP in AT; might be associated with susceptibility to cancer.
VAR_010809
Natural varianti707 – 7071S → P.2 Publications
Corresponds to variant rs4986761 [ dbSNP | Ensembl ].
VAR_010810
Natural varianti761 – 7611T → S.
Corresponds to variant rs2235011 [ dbSNP | Ensembl ].
VAR_056679
Natural varianti768 – 7681N → D in AT. 1 Publication
VAR_010812
Natural varianti785 – 7851R → C in AT. 1 Publication
VAR_010813
Natural varianti788 – 7881S → R.
Corresponds to variant rs641252 [ dbSNP | Ensembl ].
VAR_056680
Natural varianti814 – 8141D → E.
Corresponds to variant rs3218695 [ dbSNP | Ensembl ].
VAR_056681
Natural varianti848 – 8481E → Q in a lung adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041556
Natural varianti858 – 8581F → L Rare polymorphism. 6 Publications
Corresponds to variant rs1800056 [ dbSNP | Ensembl ].
VAR_010814
Natural varianti872 – 8721P → S.1 Publication
Corresponds to variant rs3218673 [ dbSNP | Ensembl ].
VAR_041557
Natural varianti924 – 9241R → W.1 Publication
VAR_041558
Natural varianti935 – 9351T → A.1 Publication
VAR_041559
Natural varianti935 – 9351T → M.
Corresponds to variant rs3218708 [ dbSNP | Ensembl ].
VAR_056682
Natural varianti942 – 9421L → F.
Corresponds to variant rs3218688 [ dbSNP | Ensembl ].
VAR_056683
Natural varianti950 – 9501L → R in AT.
VAR_010815
Natural varianti1001 – 10011L → Q in AT; associated with T-cell acute lymphoblastic leukemia. 1 Publication
VAR_010816
Natural varianti1040 – 10401M → V in B-cell non-Hodgkin lymphoma. 1 Publication
Corresponds to variant rs3092857 [ dbSNP | Ensembl ].
VAR_010817
Natural varianti1054 – 10541P → R.8 Publications
Corresponds to variant rs1800057 [ dbSNP | Ensembl ].
VAR_010818
Natural varianti1082 – 10821H → L in AT.
VAR_010819
Natural varianti1091 – 10911E → D in AT. 1 Publication
VAR_010820
Natural varianti1179 – 11791S → F in a gastric adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041560
Natural varianti1313 – 13131E → Q.
Corresponds to variant rs3092841 [ dbSNP | Ensembl ].
VAR_056684
Natural varianti1321 – 13211M → I.1 Publication
VAR_041561
Natural varianti1380 – 13801H → Y.1 Publication
VAR_041562
Natural varianti1382 – 13821P → S.1 Publication
VAR_041563
Natural varianti1407 – 14071I → T in T-prolymphocytic leukemia. 1 Publication
VAR_010821
Natural varianti1420 – 14201L → F Rare polymorphism. 4 Publications
Corresponds to variant rs1800058 [ dbSNP | Ensembl ].
VAR_010822
Natural varianti1420 – 14201L → P in AT. 1 Publication
VAR_010823
Natural varianti1427 – 14271A → T.
Corresponds to variant rs2229021 [ dbSNP | Ensembl ].
VAR_056685
Natural varianti1454 – 14541K → N.1 Publication
VAR_010824
Natural varianti1463 – 14631F → S in B-cell non-Hodgkin lymphoma. 1 Publication
VAR_010825
Natural varianti1465 – 14651L → P in AT. 1 Publication
VAR_010826
Natural varianti1469 – 14691I → M in a renal papillary cancer sample; somatic mutation. 1 Publication
VAR_041564
Natural varianti1475 – 14751Y → C.1 Publication
VAR_041565
Natural varianti1541 – 15411L → F.
Corresponds to variant rs3092849 [ dbSNP | Ensembl ].
VAR_056686
Natural varianti1566 – 15661P → R in AT. 1 Publication
VAR_010827
Natural varianti1570 – 15701V → A.1 Publication
Corresponds to variant rs140856217 [ dbSNP | Ensembl ].
VAR_010828
Natural varianti1650 – 16501N → S.1 Publication
Corresponds to variant rs55870064 [ dbSNP | Ensembl ].
VAR_041566
Natural varianti1682 – 16821D → H in T-prolymphocytic leukemia. 1 Publication
VAR_010829
Natural varianti1691 – 16911S → R in AT and B-cell chronic lymphocytic leukemia; unknown pathological significance. 3 Publications
Corresponds to variant rs1800059 [ dbSNP | Ensembl ].
VAR_010830
Natural varianti1729 – 17291V → L.
Corresponds to variant rs3092907 [ dbSNP | Ensembl ].
VAR_056687
Natural varianti1739 – 17391N → T in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041567
Natural varianti1743 – 17431T → I in AT; associated with preleukemic T-cell proliferation. 1 Publication
VAR_010831
Natural varianti1812 – 18132AF → V in AT.
VAR_010832
Natural varianti1853 – 18531D → N Common polymorphism. 6 Publications
Corresponds to variant rs1801516 [ dbSNP | Ensembl ].
VAR_010833
Natural varianti1853 – 18531D → V Might contribute to B-cell chronic lymphocytic leukemia. 5 Publications
Corresponds to variant rs1801673 [ dbSNP | Ensembl ].
VAR_010834
Natural varianti1910 – 19101L → H in T-prolymphocytic leukemia. 1 Publication
VAR_010835
Natural varianti1913 – 19131V → G in AT. 1 Publication
VAR_010836
Natural varianti1916 – 19161M → I in a breast pleomorphic lobular carcinoma sample; somatic mutation. 1 Publication
VAR_041568
Natural varianti1945 – 19451A → T in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041569
Natural varianti1953 – 19531T → R in B-cell chronic lymphocytic leukemia. 1 Publication
VAR_010837
Natural varianti1961 – 19611Y → C.1 Publication
VAR_041570
Natural varianti1983 – 19831S → N.1 Publication
Corresponds to variant rs659243 [ dbSNP | Ensembl ].
VAR_041571
Natural varianti1991 – 19911E → D in a renal clear cell carcinoma sample; somatic mutation. 1 Publication
VAR_041572
Natural varianti2016 – 20161D → G in AT. 1 Publication
VAR_010838
Natural varianti2034 – 20341R → Q.
Corresponds to variant rs3218670 [ dbSNP | Ensembl ].
VAR_056688
Natural varianti2063 – 20631G → E in AT.
VAR_010839
Natural varianti2067 – 20671A → D in AT. 1 Publication
VAR_010840
Natural varianti2079 – 20791V → I.1 Publication
Corresponds to variant rs1800060 [ dbSNP | Ensembl ].
VAR_010841
Natural varianti2139 – 21391E → G in T-prolymphocytic leukemia; somatic mutation. 1 Publication
VAR_010842
Natural varianti2164 – 21641E → K in T-prolymphocytic leukemia. 1 Publication
VAR_010843
Natural varianti2218 – 22181S → C in AT. 1 Publication
VAR_010844
Natural varianti2224 – 22274MALR → IS in AT.
VAR_010845
Natural varianti2227 – 22271R → C in AT. 1 Publication
VAR_010846
Natural varianti2246 – 22527CIKDILT → H in AT.
VAR_010847
Natural varianti2274 – 22741A → T in B-cell chronic lymphocytic leukemia. 1 Publication
VAR_010848
Natural varianti2287 – 22871G → A.1 Publication
Corresponds to variant rs1800061 [ dbSNP | Ensembl ].
VAR_010849
Natural varianti2307 – 23071L → F.1 Publication
VAR_041573
Natural varianti2332 – 23321L → P.1 Publication
Corresponds to variant rs4988111 [ dbSNP | Ensembl ].
VAR_041574
Natural varianti2335 – 23351T → K.
Corresponds to variant rs3092831 [ dbSNP | Ensembl ].
VAR_056689
Natural varianti2356 – 23561I → F in a renal clear cell carcinoma sample; somatic mutation. 1 Publication
VAR_041575
Natural varianti2396 – 23961T → S in T-prolymphocytic leukemia. 1 Publication
VAR_010850
Natural varianti2408 – 24081S → L in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041576
Natural varianti2418 – 24181K → KK in mantle cell lymphoma. 2 Publications
VAR_010851
Natural varianti2420 – 24201A → P in B-cell chronic lymphocytic leukemia. 1 Publication
VAR_010852
Natural varianti2423 – 24231E → G in mantle cell lymphoma. 2 Publications
VAR_010853
Natural varianti2424 – 24241V → G in AT, B-cell chronic lymphocytic leukemia and T-prolymphocytic leukemia; associated with increased risk for breast cancer. 4 Publications
VAR_010854
Natural varianti2427 – 24282Missing in AT; associated with T-prolymphocytic leukemia.
VAR_010855
Natural varianti2438 – 24381T → I.2 Publications
Corresponds to variant rs147604227 [ dbSNP | Ensembl ].
VAR_010856
Natural varianti2442 – 24421Q → P in T-prolymphocytic leukemia; also in a lung adenocarcinoma sample; somatic mutation. 2 Publications
VAR_010857
Natural varianti2443 – 24431R → Q in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041577
Natural varianti2464 – 24641C → R.1 Publication