ATM report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0000425Biological processpexophagy
GO_0001541Biological processovarian follicle development
GO_0033151Biological processV(D)J recombination
GO_0051972Biological processregulation of telomerase activity
GO_0035264Biological processmulticellular organism growth
GO_0007143Biological processfemale meiotic nuclear division
GO_0045141Biological processmeiotic telomere clustering
GO_0000724Biological processdouble-strand break repair via homologous recombination
GO_0051402Biological processneuron apoptotic process
GO_0048599Biological processoocyte development
GO_1904354Biological processnegative regulation of telomere capping
GO_0036092Biological processphosphatidylinositol-3-phosphate biosynthetic process
GO_0001666Biological processresponse to hypoxia
GO_0000723Biological processtelomere maintenance
GO_0006468Biological processprotein phosphorylation
GO_1904262Biological processnegative regulation of TORC1 signaling
GO_0051726Biological processregulation of cell cycle
GO_0030889Biological processnegative regulation of B cell proliferation
GO_0071300Biological processcellular response to retinoic acid
GO_1903978Biological processregulation of microglial cell activation
GO_0006303Biological processdouble-strand break repair via nonhomologous end joining
GO_0006302Biological processdouble-strand break repair
GO_0007165Biological processsignal transduction
GO_0010628Biological processpositive regulation of gene expression
GO_0071500Biological processcellular response to nitrosative stress
GO_0071480Biological processcellular response to gamma radiation
GO_1903626Biological processpositive regulation of DNA catabolic process
GO_1900034Biological processregulation of cellular response to heat
GO_0043517Biological processpositive regulation of DNA damage response, signal transduction by p53 class mediator
GO_0042159Biological processlipoprotein catabolic process
GO_0042981Biological processregulation of apoptotic process
GO_0010506Biological processregulation of autophagy
GO_0008630Biological processintrinsic apoptotic signaling pathway in response to DNA damage
GO_1901796Biological processregulation of signal transduction by p53 class mediator
GO_0006977Biological processDNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO_0036289Biological processpeptidyl-serine autophosphorylation
GO_1904884Biological processpositive regulation of telomerase catalytic core complex assembly
GO_0046777Biological processprotein autophosphorylation
GO_0042770Biological processsignal transduction in response to DNA damage
GO_0007140Biological processmale meiotic nuclear division
GO_0000077Biological processDNA damage checkpoint signaling
GO_0010212Biological processresponse to ionizing radiation
GO_0097695Biological processestablishment of protein-containing complex localization to telomere
GO_0071044Biological processhistone mRNA catabolic process
GO_0090399Biological processreplicative senescence
GO_0007095Biological processmitotic G2 DNA damage checkpoint signaling
GO_0000729Biological processDNA double-strand break processing
GO_0048538Biological processthymus development
GO_2000785Biological processregulation of autophagosome assembly
GO_0001756Biological processsomitogenesis
GO_0007420Biological processbrain development
GO_0007094Biological processmitotic spindle assembly checkpoint signaling
GO_0043065Biological processpositive regulation of apoptotic process
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0018105Biological processpeptidyl-serine phosphorylation
GO_0034614Biological processcellular response to reactive oxygen species
GO_0009791Biological processpost-embryonic development
GO_0007507Biological processheart development
GO_0008340Biological processdetermination of adult lifespan
GO_0007131Biological processreciprocal meiotic recombination
GO_0006974Biological processDNA damage response
GO_0045785Biological processpositive regulation of cell adhesion
GO_0006338Biological processchromatin remodeling
GO_0097694Biological processestablishment of RNA localization to telomere
GO_0043525Biological processpositive regulation of neuron apoptotic process
GO_0032210Biological processregulation of telomere maintenance via telomerase
GO_0071481Biological processcellular response to X-ray
GO_0030335Biological processpositive regulation of cell migration
GO_1904358Biological processpositive regulation of telomere maintenance via telomere lengthening
GO_0090398Biological processcellular senescence
GO_0002331Biological processpre-B cell allelic exclusion
GO_0032212Biological processpositive regulation of telomere maintenance via telomerase
GO_0005634Cellular componentnucleus
GO_0005730Cellular componentnucleolus
GO_0005654Cellular componentnucleoplasm
GO_1990391Cellular componentDNA repair complex
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0035861Cellular componentsite of double-strand break
GO_0031410Cellular componentcytoplasmic vesicle
GO_0005813Cellular componentcentrosome
GO_0005737Cellular componentcytoplasm
GO_0000781Cellular componentchromosome, telomeric region
GO_0005829Cellular componentcytosol
GO_0005782Cellular componentperoxisomal matrix
GO_0005819Cellular componentspindle
GO_0042802Molecular functionidentical protein binding
GO_0005524Molecular functionATP binding
GO_0106310Molecular functionprotein serine kinase activity
GO_0035979Molecular functionhistone H2AXS139 kinase activity
GO_0004677Molecular functionDNA-dependent protein kinase activity
GO_0004674Molecular functionprotein serine/threonine kinase activity
GO_0005515Molecular functionprotein binding
GO_0003677Molecular functionDNA binding
GO_0044877Molecular functionprotein-containing complex binding
GO_0016303Molecular function1-phosphatidylinositol-3-kinase activity

IV. Literature review

[source]
Gene nameATM
Protein nameATM
ATM variant (EC 2.7.11.1)
Serine-protein kinase ATM (EC 2.7.11.1) (Ataxia telangiectasia mutated) (A-T mutated)
ATM protein (ATM serine/threonine kinase)
ATM serine/threonine kinase
ATM protein
ATM protein (Ataxia telangiectasia mutated (Includes complementation groups A, C and D))
Synonyms
DescriptionFUNCTION: 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 at double strand breaks (DSBs), thereby regulating DNA damage response mechanism (By similarity). 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, FBXW7, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, UFL1, RAD9, UBQLN4 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 . Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks . Phosphorylates TTC5/STRAP at 'Ser-203' in the cytoplasm in response to DNA damage, which promotes TTC5/STRAP nuclear localization . Also involved in pexophagy by mediating phosphorylation of PEX5: translocated to peroxisomes in response to reactive oxygen species (ROS), and catalyzes phosphorylation of PEX5, promoting PEX5 ubiquitination and induction of pexophagy . .

AccessionsH0YEC6
ENST00000639240.1
ENST00000278616.9
ENST00000638443.1
ENST00000682465.1
E9PIN0
ENST00000530958.5
M0QXY8
A8WFP7
ENST00000640388.1
ENST00000526567.5
E9PRG7
ENST00000532931.5
ENST00000527805.6
ENST00000675595.1
ENST00000683150.1
ENST00000683468.1
A0A6Q8PH76
Q8TDS0
E2I6F3
ENST00000684037.1
ENST00000529588.5
Q6P7P1
Q96QM9
ENST00000452508.6
ENST00000683914.1
ENST00000639953.1
Q8TDS1
ENST00000675843.1
ENST00000684029.1
Q13315
ENST00000601453.2
Q8TDS2
A0A087X0E9
ENST00000531525.2
A0A804HL86
H0YDU7