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

    Gene ID: 472, updated on 17-Jun-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATM in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (108223067..108369102)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (108230362..108376596)
    105.20220307 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 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 histone H2AXS139 kinase activity ISS
    Inferred from Sequence or Structural Similarity
    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 
    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 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
     
    NOT involved_in regulation of telomerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    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 cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    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
      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
      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, 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, 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_2023_10

    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
      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

    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
      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

    5. XM_017017790.3XP_016873279.1  serine-protein kinase ATM isoform X1

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

    8. XM_011542842.4XP_011541144.1  serine-protein kinase ATM isoform X2

      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

      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
      A0A6Q8PH76
      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
    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
      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

      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
    2. XM_054368878.1XP_054224853.1  serine-protein kinase ATM isoform X2

    3. XM_054368880.1XP_054224855.1  serine-protein kinase ATM isoform X2

    4. XM_054368874.1XP_054224849.1  serine-protein kinase ATM isoform X1

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

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

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

    8. XM_054368877.1XP_054224852.1  serine-protein kinase ATM isoform X2

    9. XM_054368881.1XP_054224856.1  serine-protein kinase ATM isoform X3

    10. XM_054368876.1XP_054224851.1  serine-protein kinase ATM isoform X1

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

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

    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.