Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q13315

- ATM_HUMAN

UniProt

Q13315 - ATM_HUMAN

Protein

Serine-protein kinase ATM

Gene

ATM

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 182 (01 Oct 2014)
      Sequence version 4 (22 Jan 2014)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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.

    GO - Cellular componenti

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

    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.23 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 1 Publication
    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. 3 Publications
    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).
    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)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-acetylserine2 Publications
    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-acetyllysine2 Publications

    Post-translational modificationi

    Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA damage-mediated activation of the kinase.5 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/TIP60.7 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.

    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.By similarity17 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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1960 – 2566607FATPROSITE-ProRule annotationAdd
    BLAST
    Domaini2712 – 2962251PI3K/PI4KPROSITE-ProRule annotationAdd
    BLAST
    Domaini3024 – 305633FATCPROSITE-ProRule annotationAdd
    BLAST

    Region

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

    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

    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

    « Hide

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti46 – 461H → N in CAA62603. (PubMed:8789452)Curated
    Sequence conflicti56 – 561N → I in CAA62603. (PubMed:8789452)Curated
    Sequence conflicti313 – 3131Y → N in CAA62603. (PubMed:8789452)Curated
    Sequence conflicti488 – 4881W → G in CAA62603. (PubMed:8789452)Curated
    Sequence conflicti554 – 5541T → A in AAC50289. (PubMed:8589678)Curated
    Sequence conflicti750 – 7501K → N in AAC50289. (PubMed:8589678)Curated
    Sequence conflicti754 – 7541Q → K in CAA62603. (PubMed:8789452)Curated
    Sequence conflicti887 – 8871E → G in CAA62603. (PubMed:8789452)Curated
    Sequence conflicti1003 – 10031Q → L in CAA62603. (PubMed:8789452)Curated
    Sequence conflicti1049 – 10491L → W in CAA62603. (PubMed:8789452)Curated
    Sequence conflicti1089 – 10891A → V in CAA62603. (PubMed:8789452)Curated
    Sequence conflicti3003 – 30031N → D in AAC50289. (PubMed:8589678)Curated
    Sequence conflicti3003 – 30031N → D in AAB38309. (PubMed:8665503)Curated
    Sequence conflicti3003 – 30031N → D in AAB38310. (PubMed:8665503)Curated
    Sequence conflicti3003 – 30031N → D in AAA86520. (PubMed:7792600)Curated

    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. 1 Publication
    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.