Mutirana ataksija telangiektazija

ATM (gen)
Identifikatori
Aliasi	ATM
Vanjski ID-jevi	OMIM: 607585 MGI: 107202 HomoloGene: 30952 GeneCards: ATM
Lokacija gena (čovjek) Hrom. Hromosom 11 (čovjek)[1] Bend 11q22.3 Početak 108,223,044 bp[1] Kraj 108,369,102 bp[1]
Lokacija gena (miš) Hrom. Hromosom 9 (miš)[2] Bend 9 A5.3|9 29.12 cM Početak 53,350,449 bp[2] Kraj 53,448,040 bp[2]
Ontologija gena Molekularna funkcija • aktivnost sa transferazom • vezivanje sa DNK • nucleotide binding • protein kinase activity • DNA-dependent protein kinase activity • protein dimerization activity • protein N-terminus binding • 1-phosphatidylinositol-3-kinase activity • kinase activity • protein serine/threonine kinase activity • GO:0001948, GO:0016582 vezivanje za proteine • ATP binding • GO:0032403 protein-containing complex binding Ćelijska komponenta • citoplazma • DNA repair complex • Diobeno vreteno • nukleoplazma • Telomera • GO:0016023 citoplazmatska vezikula • jedro • Jedarce Biološki proces • somitogenesis • response to ionizing radiation • neuron apoptotic process • reciprocal meiotic recombination • DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest • response to hypoxia • female gamete generation • determination of adult lifespan • Fosforilacija • establishment of protein-containing complex localization to telomere • meiotic telomere clustering • peptidyl-serine autophosphorylation • DNA damage checkpoint signaling • regulation of telomerase activity • positive regulation of telomerase catalytic core complex assembly • positive regulation of telomere maintenance via telomerase • positive regulation of neuron death • mitotic spindle assembly checkpoint signaling • oocyte development • lipoprotein catabolic process • regulation of cell cycle • protein phosphorylation • heart development • brain development • positive regulation of neuron apoptotic process • negative regulation of telomere capping • positive regulation of telomere maintenance via telomere lengthening • GO:0035404 peptidyl-serine phosphorylation • cellular response to gamma radiation • intrinsic apoptotic signaling pathway in response to DNA damage • V(D)J rekombinacija • positive regulation of apoptotic process • regulation of cellular response to heat • pre-B cell allelic exclusion • ćelijski ciklus • histone mRNA catabolic process • cellular response to nitrosative stress • positive regulation of DNA damage response, signal transduction by p53 class mediator • double-strand break repair via nonhomologous end joining • negative regulation of B cell proliferation • GO:0072468 Transdukcija signala • establishment of RNA localization to telomere • GO:0097285 apoptoza • Replikacija DNK • DNA double-strand break processing • regulation of signal transduction by p53 class mediator • regulation of autophagy • phosphatidylinositol-3-phosphate biosynthetic process • cellular response to X-ray • double-strand break repair via homologous recombination • regulation of apoptotic process • negative regulation of TORC1 signaling • ovarian follicle development • immune system process • immunoglobulin production • DNA damage induced protein phosphorylation • male meiotic nuclear division • female meiotic nuclear division • female gonad development • post-embryonic development • multicellular organism growth • protein autophosphorylation • thymus development • GO:0051178 chromosome organization involved in meiotic cell cycle • GO:0100026 Popravka DNK • cellular response to DNA damage stimulus • regulation of telomere maintenance via telomerase • positive regulation of DNA catabolic process • regulation of microglial cell activation • regulation of cellular response to gamma radiation • positive regulation of response to DNA damage stimulus • telomere maintenance • replicative senescence • GO:1901313 positive regulation of gene expression • positive regulation of cell migration • positive regulation of cell adhesion • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • cellular response to retinoic acid Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	472	11920
Ensembl	ENSG00000149311	ENSMUSG00000034218
UniProt	Q13315	Q62388
RefSeq (mRNK)	NM_000051 NM_138292 NM_138293 NM_001351834 NM_001351835 NM_001351836	NM_007499
RefSeq (bjelančevina)	NP_000042 NP_001338763 NP_001338764 NP_001338765 NP_000042.3	NP_031525
Lokacija (UCSC)	Chr 11: 108.22 – 108.37 Mb	Chr 9: 53.35 – 53.45 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

ATM serin/treonin-kinaza, simbol ATM, je serin/treonin proteinska kinaza koja se angažira i aktivira putem dvolančanog prekida molekule DNK. Fosforilira nekoliko ključnih proteina koji iniciraju aktivaciju kontrolne tačke oštećenja DNK, što dovodi do zaustavljanja ćelijskog ciklusa, popravljanja DNK ili apoptoza. Nekoliko ovih meta, uključujući p53, CHK2, BRCA1, NBS1 i H2AX su geni supresije tumora.

Godine 1995., gen je otkrio dr Yosef Shiloh^[5] koji je svoj proizvod nazvao ATM jer je otkrio da su njegove mutacije odgovorne za poremećaj ataksija telangiektazija.^[6] U 1998. laboratorije Shiloh i Michael B. Kastan nezavisno su pokazale da je ATM protein-kinaza ta čija je aktivnost pojačana oštećenjem DNK.^[7][8]

1. ^ ^{a b c} GRCh38: Ensembl release 89: ENSG00000149311 - Ensembl, maj 2017
2. ^ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000034218 - Ensembl, maj 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. (juni 1995). "A single ataxia telangiectasia gene with a product similar to PI-3 kinase". Science. 268 (5218): 1749–53. Bibcode:1995Sci...268.1749S. doi:10.1126/science.7792600. PMID 7792600.
6. ^ "Entrez Gene: ATM ataxia telangiectasia mutated (includes complementation groups A, C and D)".
7. ^ Greška kod citiranja: Nevaljana oznaka <ref>; nije naveden tekst za reference s imenom pmid9733514
8. ^ Greška kod citiranja: Nevaljana oznaka <ref>; nije naveden tekst za reference s imenom pmid9733515