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ATM ATM serine/threonine kinase [ Homo sapiens (human) ]

Gene ID: 472, updated on 10-Dec-2024

Summary

Official Symbol
ATMprovided by HGNC
Official Full Name
ATM serine/threonine kinaseprovided by HGNC
Primary source
HGNC:HGNC:795
See related
Ensembl:ENSG00000149311 MIM:607585; AllianceGenome:HGNC:795
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1
Summary
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in lymph node (RPKM 15.4), spleen (RPKM 9.5) and 25 other tissues See more
Orthologs
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Genomic context

See ATM in Genome Data Viewer
Location:
11q22.3
Exon count:
67
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (108223067..108369102)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (108230362..108376596)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (108093794..108239829)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:107991956-107992494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5482 Neighboring gene MPRA-validated peak1447 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108021496-108021664 Neighboring gene acetyl-CoA acetyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3877 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108047982 Neighboring gene nuclear protein, coactivator of histone transcription Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108089151 Neighboring gene NANOG hESC enhancer GRCh37_chr11:108089784-108090285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5487 Neighboring gene MPRA-validated peak1449 silencer Neighboring gene MPRA-validated peak1450 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108140516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:108147863-108148662 Neighboring gene chromosome 11 open reading frame 65 Neighboring gene MPRA-validated peak1451 silencer Neighboring gene MPRA-validated peak1452 silencer Neighboring gene MPRA-validated peak1453 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108273376 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108294773 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108301322 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108309656 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108323261 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108333620 Neighboring gene Sharpr-MPRA regulatory region 13200 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:108337475-108338327 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108344264 Neighboring gene uncharacterized LOC124902749 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108353409-108353587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3878 Neighboring gene uncharacterized LOC112267909 Neighboring gene protein O-glucosyltransferase 3 Neighboring gene exophilin 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-04-08)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-08)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.
EBI GWAS Catalog
Does metformin work for everyone? A genome-wide association study for metformin response.
EBI GWAS Catalog
Genome-wide association study identifies three new melanoma susceptibility loci.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env PML, TopBP1, NBS1 or ATM-induced activation of phosphorylation of Chk2 participates in the DNA damage-elicited pro-apoptotic cascade that leads to the demise of Env-elicited syncytia PubMed
env Interactions between tumor suppressor protein PML, TopBP1 and ATM exhibit in HIV-1 Env-elicited syncytia PubMed
env Tumor suppressor protein PML is required for the activating phosphorylation of ATM, p38 MAPK, and p53 in HIV-1 Env-elicited syncytia PubMed
Rev rev Ataxia-telangiectasia-mutated (ATM) kinase enhances HIV-1 replication by stimulating the action of the HIV-1 Rev viral posttranscriptional regulator PubMed
Tat tat HIV-1 Tat upregulates ATM expression in Tat-infected Jurkat T cells PubMed
Vif vif A3G upregulates NKG2D ligands through an ATM pathway and in which HIV-1 Vif counteracts this upregulation by decreasing A3G expression PubMed
Vpr vpr HIV-1 Vpr activates ATM, a DNA double-strand break kinase that is required for cell response to DNA damage and for genome stability PubMed
integrase gag-pol DNA double-strand breaks enhance integration of HIV-1 into macrophages in an IN D64A mutant, which has defective integrase catalytic activity. This IN-D64A-independent viral transduction is blocked by an inhibitor of ATM PubMed
gag-pol ATM is proposed to play a role in the prevention of HIV-1 Integrase mediated cell killing PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC74674, DKFZp781A0353

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-phosphatidylinositol-3-kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables 3-phosphoinositide-dependent protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables AMP-activated protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA-dependent protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables Rho-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables eukaryotic translation initiation factor 2alpha kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H2AS1 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H2AS121 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H2AT120 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H2AXS139 kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables histone H2BS14 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H2BS36 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H3S10 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H3S28 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H3S57 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H3T11 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H3T3 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H3T45 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H3T6 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone H4S1 kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ribosomal protein S6 kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in DNA damage checkpoint signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within DNA damage response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in DNA damage response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS
Traceable Author Statement
more info
 
involved_in DNA double-strand break processing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in V(D)J recombination IEA
Inferred from Electronic Annotation
more info
 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to X-ray IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to gamma radiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to nitrosative stress IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to reactive oxygen species IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to retinoic acid ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to stress IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular senescence TAS
Traceable Author Statement
more info
 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
 
involved_in double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in double-strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
involved_in double-strand break repair TAS
Traceable Author Statement
more info
 
involved_in double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
involved_in establishment of RNA localization to telomere IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of protein-containing complex localization to telomere IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in female meiotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in histone mRNA catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in lipoprotein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in male meiotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
involved_in meiotic telomere clustering IEA
Inferred from Electronic Annotation
more info
 
involved_in mitotic G2 DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic spindle assembly checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of B cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of telomere capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in oocyte development IEA
Inferred from Electronic Annotation
more info
 
involved_in ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within peptidyl-serine autophosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pexophagy IDA
Inferred from Direct Assay
more info
PubMed 
involved_in phosphatidylinositol-3-phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of telomerase catalytic core complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of telomere maintenance via telomerase ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of telomere maintenance via telomere lengthening IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in pre-B cell allelic exclusion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein autophosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in reciprocal meiotic recombination TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of apoptotic process TAS
Traceable Author Statement
more info
 
involved_in regulation of autophagosome assembly IC
Inferred by Curator
more info
PubMed 
involved_in regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
involved_in regulation of microglial cell activation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
involved_in regulation of telomere maintenance via telomerase IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in replicative senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in signal transduction in response to DNA damage IDA
Inferred from Direct Assay
more info
PubMed 
involved_in signal transduction in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in somitogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of DNA repair complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in chromosome IBA
Inferred from Biological aspect of Ancestor
more info
 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extrinsic component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in peroxisomal matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
 
is_active_in site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
located_in spindle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
serine-protein kinase ATM
Names
A-T mutated
AT mutated
TEL1, telomere maintenance 1, homolog
ataxia telangiectasia mutated
serine/threonine kinase ATM
NP_000042.3
NP_001338763.1
NP_001338764.1
NP_001338765.1
XP_005271619.2
XP_006718906.1
XP_006718908.1
XP_011541142.1
XP_011541144.1
XP_011541145.1
XP_011541146.1
XP_016873279.1
XP_047282931.1
XP_047282932.1
XP_047282933.1
XP_047282934.1
XP_047282935.1
XP_047282937.1
XP_054224846.1
XP_054224847.1
XP_054224848.1
XP_054224849.1
XP_054224850.1
XP_054224851.1
XP_054224852.1
XP_054224853.1
XP_054224854.1
XP_054224855.1
XP_054224856.1
XP_054224857.1
XP_054224858.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009830.1 RefSeqGene

    Range
    5001..151268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_135

mRNA and Protein(s)

  1. NM_000051.4NP_000042.3  serine-protein kinase ATM isoform a

    See identical proteins and their annotated locations for NP_000042.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AP001925, AP005718, U26455, U33841, X91196
    Consensus CDS
    CCDS31669.1
    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
    Related
    ENSP00000501606.1, ENST00000675843.1
    Conserved Domains (4) summary
    cd05171
    Location:26832962
    PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    pfam02259
    Location:20972489
    FAT; FAT domain
    pfam02260
    Location:30263055
    FATC; FATC domain
    pfam11640
    Location:8165
    TAN; Telomere-length maintenance and DNA damage repair
  2. NM_001351834.2NP_001338763.1  serine-protein kinase ATM isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform . Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AP001925, AP005718, U33841
    Consensus CDS
    CCDS31669.1
    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
    Related
    ENSP00000388058.2, ENST00000452508.7
    Conserved Domains (4) summary
    cd05171
    Location:26832962
    PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    pfam02259
    Location:20972489
    FAT; FAT domain
    pfam02260
    Location:30263055
    FATC; FATC domain
    pfam11640
    Location:8165
    TAN; Telomere-length maintenance and DNA damage repair
  3. NM_001351835.2NP_001338764.1  serine-protein kinase ATM isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, 3' UTR, and 3' coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (b).
    Source sequence(s)
    AI479273, AP001925
    Consensus CDS
    CCDS86245.1
    UniProtKB/TrEMBL
    E9PRG7, M0QXY8, Q6P7P1
    Related
    ENSP00000507649.1, ENST00000683914.2
    Conserved Domains (1) summary
    pfam11640
    Location:8110
    TAN; Telomere-length maintenance and DNA damage repair
  4. NM_001351836.2NP_001338765.1  serine-protein kinase ATM isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, 3' UTR, and 3' coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (b).
    Source sequence(s)
    AP001925, BC061584
    Consensus CDS
    CCDS86245.1
    UniProtKB/TrEMBL
    E9PRG7, M0QXY8, Q6P7P1
    Related
    ENSP00000480205.1, ENST00000526567.5
    Conserved Domains (1) summary
    pfam11640
    Location:8110
    TAN; Telomere-length maintenance and DNA damage repair

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    108223067..108369102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542840.4XP_011541142.1  serine-protein kinase ATM isoform X1

    See identical proteins and their annotated locations for XP_011541142.1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
    Related
    ENSP00000469471.2, ENST00000601453.3
    Conserved Domains (4) summary
    cd05171
    Location:26832962
    PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    pfam02259
    Location:20972489
    FAT; FAT domain
    pfam02260
    Location:30263055
    FATC; FATC domain
    pfam11640
    Location:8165
    TAN; Telomere-length maintenance and DNA damage repair
  2. XM_047426977.1XP_047282933.1  serine-protein kinase ATM isoform X2

    UniProtKB/TrEMBL
    A0AAQ5BH37
  3. XM_006718843.5XP_006718906.1  serine-protein kinase ATM isoform X1

    See identical proteins and their annotated locations for XP_006718906.1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
    Conserved Domains (4) summary
    cd05171
    Location:26832962
    PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    pfam02259
    Location:20972489
    FAT; FAT domain
    pfam02260
    Location:30263055
    FATC; FATC domain
    pfam11640
    Location:8165
    TAN; Telomere-length maintenance and DNA damage repair
  4. XM_047426979.1XP_047282935.1  serine-protein kinase ATM isoform X2

    UniProtKB/TrEMBL
    A0AAQ5BH37
  5. XM_017017790.3XP_016873279.1  serine-protein kinase ATM isoform X1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
    Conserved Domains (4) summary
    cd05171
    Location:26832962
    PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    pfam02259
    Location:20972489
    FAT; FAT domain
    pfam02260
    Location:30263055
    FATC; FATC domain
    pfam11640
    Location:8165
    TAN; Telomere-length maintenance and DNA damage repair
  6. XM_047426975.1XP_047282931.1  serine-protein kinase ATM isoform X1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
  7. XM_047426978.1XP_047282934.1  serine-protein kinase ATM isoform X2

    UniProtKB/TrEMBL
    A0AAQ5BH37
  8. XM_011542842.4XP_011541144.1  serine-protein kinase ATM isoform X2

    UniProtKB/TrEMBL
    A0AAQ5BH37
    Conserved Domains (4) summary
    cd05171
    Location:26282907
    PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    pfam02259
    Location:20422434
    FAT; FAT domain
    pfam02260
    Location:29713000
    FATC; FATC domain
    pfam11640
    Location:11112
    TAN; Telomere-length maintenance and DNA damage repair
  9. XM_011542843.3XP_011541145.1  serine-protein kinase ATM isoform X3

    UniProtKB/TrEMBL
    A0AAQ5BH18, A0AAQ5BH37
    Related
    ENSP00000519148.1, ENST00000713843.1
    Conserved Domains (3) summary
    cd05171
    Location:26832890
    PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    pfam02259
    Location:20972489
    FAT; FAT domain
    pfam11640
    Location:11165
    TAN; Telomere-length maintenance and DNA damage repair
  10. XM_047426981.1XP_047282937.1  serine-protein kinase ATM isoform X6

    UniProtKB/TrEMBL
    A0AAQ5BH05
    Related
    ENSP00000434327.3, ENST00000531525.3
  11. XM_047426976.1XP_047282932.1  serine-protein kinase ATM isoform X1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
  12. XM_005271562.6XP_005271619.2  serine-protein kinase ATM isoform X1

    See identical proteins and their annotated locations for XP_005271619.2

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
    Related
    ENSP00000278616.4, ENST00000278616.10
    Conserved Domains (4) summary
    cd05171
    Location:26832962
    PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    pfam02259
    Location:20972489
    FAT; FAT domain
    pfam02260
    Location:30263055
    FATC; FATC domain
    pfam11640
    Location:8165
    TAN; Telomere-length maintenance and DNA damage repair
  13. XM_011542844.4XP_011541146.1  serine-protein kinase ATM isoform X4

    UniProtKB/TrEMBL
    A0AAQ5BH37
    Conserved Domains (3) summary
    cd05171
    Location:23352614
    PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    pfam02259
    Location:17492141
    FAT; FAT domain
    pfam02260
    Location:26782707
    FATC; FATC domain
  14. XM_006718845.3XP_006718908.1  serine-protein kinase ATM isoform X5

    See identical proteins and their annotated locations for XP_006718908.1

    UniProtKB/Swiss-Prot
    Q13315
    Conserved Domains (3) summary
    cd05171
    Location:13351614
    PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    pfam02259
    Location:7491141
    FAT; FAT domain
    pfam02260
    Location:16781707
    FATC; FATC domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    108230362..108376596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368875.1XP_054224850.1  serine-protein kinase ATM isoform X1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
  2. XM_054368878.1XP_054224853.1  serine-protein kinase ATM isoform X2

    UniProtKB/TrEMBL
    A0AAQ5BH37
  3. XM_054368880.1XP_054224855.1  serine-protein kinase ATM isoform X2

    UniProtKB/TrEMBL
    A0AAQ5BH37
  4. XM_054368874.1XP_054224849.1  serine-protein kinase ATM isoform X1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
  5. XM_054368871.1XP_054224846.1  serine-protein kinase ATM isoform X1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
  6. XM_054368872.1XP_054224847.1  serine-protein kinase ATM isoform X1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
  7. XM_054368879.1XP_054224854.1  serine-protein kinase ATM isoform X2

    UniProtKB/TrEMBL
    A0AAQ5BH37
  8. XM_054368877.1XP_054224852.1  serine-protein kinase ATM isoform X2

    UniProtKB/TrEMBL
    A0AAQ5BH37
  9. XM_054368881.1XP_054224856.1  serine-protein kinase ATM isoform X3

    UniProtKB/TrEMBL
    A0AAQ5BH18, A0AAQ5BH37
  10. XM_054368876.1XP_054224851.1  serine-protein kinase ATM isoform X1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
  11. XM_054368873.1XP_054224848.1  serine-protein kinase ATM isoform X1

    UniProtKB/Swiss-Prot
    B2RNX5, O15429, Q12758, Q13315, Q16551, Q93007, Q9NP02, Q9UCX7
    UniProtKB/TrEMBL
    A0AAQ5BH37
  12. XM_054368882.1XP_054224857.1  serine-protein kinase ATM isoform X4

    UniProtKB/TrEMBL
    A0AAQ5BH37
  13. XM_054368883.1XP_054224858.1  serine-protein kinase ATM isoform X5

RNA

  1. XR_008488402.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138292.3: Suppressed sequence

    Description
    NM_138292.3: This RefSeq was permanently suppressed because the CDS was partial, and the transcript retained intronic sequence at its 5' end.
  2. NM_138293.1: Suppressed sequence

    Description
    NM_138293.1: This RefSeq was permanently suppressed because it represents a partial, incompletely processed transcript.