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Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

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Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

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ATM
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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

ATM

Gene description

ATM serine/threonine kinase

Protein class

Cancer-related genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

9
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

Evidence at protein level

Protein expression

General nuclear expression.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly consistent with RNA expression data. Goblet cell staining observed and disregarded.

Reliability score

Supported based on 1 antibody.
CAB000102
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

ATM (HGNC Symbol)

Synonyms

ATA, ATC, ATD, ATDC, TEL1, TELO1

Description

ATM serine/threonine kinase (HGNC Symbol)

Entrez gene 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]

Chromosome

11

Cytoband

q22.3

Chromosome location (bp)

108222484 - 108369102

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000149311 (version 83.38)

Entrez gene

472

UniProt

Q13315 (UniProt - Evidence at protein level)

neXtProt

NX_Q13315

Antibodypedia

ATM antibodies

PROTEIN BROWSER

ATM-001
ATM-002
ATM-003
ATM-004
ATM-012
ATM-016
ATM-026
ATM-027
ATM-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATM-001
ENSP00000435747
ENST00000527805
E9PIN0 [Direct mapping]
Serine-protein kinase ATM
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005488 [binding]
GO:0006468 [protein phosphorylation]
Show all
1369 aa
157 kDa
No 1
ATM-002
ENSP00000483338
ENST00000530958
A0A087X0E9 [Direct mapping]
Serine-protein kinase ATM
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0004674 [protein serine/threonine kinase activity]
GO:0006468 [protein phosphorylation]
Show all
168 aa
19.8 kDa
No 0
ATM-003
ENSP00000388058
ENST00000452508
Q13315 [Direct mapping]
Serine-protein kinase ATM
A0A024R3C7 [Target identity:100%; Query identity:100%]
Ataxia telangiectasia mutated (Includes complementation groups A, C and D), isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   Atypical kinases
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000781 [chromosome, telomeric region]
GO:0002331 [pre-B cell allelic exclusion]
GO:0003677 [DNA binding]
GO:0004674 [protein serine/threonine kinase activity]
GO:0004677 [DNA-dependent protein kinase activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006468 [protein phosphorylation]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0006975 [DNA damage induced protein phosphorylation]
GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest]
GO:0007050 [cell cycle arrest]
GO:0007094 [mitotic spindle assembly checkpoint]
GO:0007131 [reciprocal meiotic recombination]
GO:0007165 [signal transduction]
GO:0010212 [response to ionizing radiation]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0016303 [1-phosphatidylinositol-3-kinase activity]
GO:0016773 [phosphotransferase activity, alcohol group as acceptor]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0030889 [negative regulation of B cell proliferation]
GO:0032403 [protein complex binding]
GO:0034605 [cellular response to heat]
GO:0036092 [phosphatidylinositol-3-phosphate biosynthetic process]
GO:0036289 [peptidyl-serine autophosphorylation]
GO:0043065 [positive regulation of apoptotic process]
GO:0043517 [positive regulation of DNA damage response, signal transduction by p53 class mediator]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
GO:0046777 [protein autophosphorylation]
GO:0046983 [protein dimerization activity]
GO:0047485 [protein N-terminus binding]
GO:0071044 [histone mRNA catabolic process]
GO:0071480 [cellular response to gamma radiation]
GO:0072434 [signal transduction involved in mitotic G2 DNA damage checkpoint]
GO:0090399 [replicative senescence]
GO:1900034 [regulation of cellular response to heat]
GO:1990391 [DNA repair complex]
Show all
3056 aa
350.7 kDa
No 0
ATM-004
ENSP00000480205
ENST00000526567
Q6P7P1 [Direct mapping]
ATM protein; Serine-protein kinase ATM
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0004674 [protein serine/threonine kinase activity]
GO:0006468 [protein phosphorylation]
Show all
112 aa
13.3 kDa
No 0
ATM-012
ENSP00000434327
ENST00000531525
H0YDU7 [Direct mapping]
Serine-protein kinase ATM
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
Show all
155 aa
17.5 kDa
No 0
ATM-016
ENSP00000432318
ENST00000532931
E9PRG7 [Direct mapping]
Serine-protein kinase ATM
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0004674 [protein serine/threonine kinase activity]
GO:0006468 [protein phosphorylation]
Show all
93 aa
11.1 kDa
No 0
ATM-026
ENSP00000433955
ENST00000527891
E9PIQ5 [Direct mapping]
Serine-protein kinase ATM
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0004674 [protein serine/threonine kinase activity]
GO:0006468 [protein phosphorylation]
Show all
154 aa
18.1 kDa
No 0
ATM-027
ENSP00000469471
ENST00000601453
M0QXY8 [Direct mapping]
Serine-protein kinase ATM
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0004674 [protein serine/threonine kinase activity]
GO:0006468 [protein phosphorylation]
Show all
135 aa
15.9 kDa
No 0
ATM-201
ENSP00000278616
ENST00000278616
Q13315 [Direct mapping]
Serine-protein kinase ATM
A0A024R3C7 [Target identity:100%; Query identity:100%]
Ataxia telangiectasia mutated (Includes complementation groups A, C and D), isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   Atypical kinases
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000077 [DNA damage checkpoint]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000781 [chromosome, telomeric region]
GO:0001666 [response to hypoxia]
GO:0001756 [somitogenesis]
GO:0002331 [pre-B cell allelic exclusion]
GO:0003677 [DNA binding]
GO:0004674 [protein serine/threonine kinase activity]
GO:0004677 [DNA-dependent protein kinase activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005819 [spindle]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006468 [protein phosphorylation]
GO:0006915 [apoptotic process]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0006975 [DNA damage induced protein phosphorylation]
GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest]
GO:0007050 [cell cycle arrest]
GO:0007094 [mitotic spindle assembly checkpoint]
GO:0007131 [reciprocal meiotic recombination]
GO:0007165 [signal transduction]
GO:0007292 [female gamete generation]
GO:0007420 [brain development]
GO:0007507 [heart development]
GO:0008340 [determination of adult lifespan]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0010212 [response to ionizing radiation]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0016303 [1-phosphatidylinositol-3-kinase activity]
GO:0016773 [phosphotransferase activity, alcohol group as acceptor]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0030889 [negative regulation of B cell proliferation]
GO:0032403 [protein complex binding]
GO:0033129 [positive regulation of histone phosphorylation]
GO:0033151 [V(D)J recombination]
GO:0034605 [cellular response to heat]
GO:0036092 [phosphatidylinositol-3-phosphate biosynthetic process]
GO:0036289 [peptidyl-serine autophosphorylation]
GO:0042159 [lipoprotein catabolic process]
GO:0043065 [positive regulation of apoptotic process]
GO:0043517 [positive regulation of DNA damage response, signal transduction by p53 class mediator]
GO:0043525 [positive regulation of neuron apoptotic process]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
GO:0045141 [meiotic telomere clustering]
GO:0046777 [protein autophosphorylation]
GO:0046983 [protein dimerization activity]
GO:0047485 [protein N-terminus binding]
GO:0048599 [oocyte development]
GO:0051402 [neuron apoptotic process]
GO:0051726 [regulation of cell cycle]
GO:0071044 [histone mRNA catabolic process]
GO:0071480 [cellular response to gamma radiation]
GO:0072434 [signal transduction involved in mitotic G2 DNA damage checkpoint]
GO:0090399 [replicative senescence]
GO:1900034 [regulation of cellular response to heat]
GO:1901216 [positive regulation of neuron death]
GO:1990391 [DNA repair complex]
Show all
3056 aa
350.7 kDa
No 0

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