ATM

GENE INFORMATION

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Gene name

ATM (HGNC Symbol)

Synonyms

ATA, ATC, ATD, ATDC, TEL1, TELO1

Description

ataxia telangiectasia mutated (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 (Chromosome progress)

Cytoband

q22.3

Chromosome location (bp)

108093211 - 108239829

Ensembl

ENSG00000149311 (version 73.37)

Entrez gene

472

UniProt

Q13315 (UniProt - Evidence at protein level)

neXtProt

NX_Q13315

Antibodypedia

ATM antibodies
 

PROTEIN VIEW

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ATM-001
 
ATM-003
 
ATM-012
 
ATM-014
 
ATM-016
 
ATM-026
 
ATM-027
 
ATM-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATM-001 ENSP00000435747
ENST00000527805
E9PIN0
Show all »
Show » Show » 1369 157 No 1
ATM-003 ENSP00000388058
ENST00000452508
Q13315
Show all »
Show » Show » 3056 350.7 No 0
ATM-012 ENSP00000434327
ENST00000531525
H0YDU7
Show all »
Show » 155 17.5 No 0
ATM-014 ENSP00000435524
ENST00000529588
Show » 77 8.8 No 0
ATM-016 ENSP00000432318
ENST00000532931
E9PRG7
Show all »
Show » Show » 93 11.1 No 0
ATM-026 ENSP00000433955
ENST00000527891
E9PIQ5
Show all »
Show » Show » 154 18.1 No 0
ATM-027 ENSP00000469471
ENST00000601453
M0QXY8
Show all »
Show » Show » 135 15.9 No 0
ATM-201 ENSP00000278616
ENST00000278616
Q13315
Show all »
Show » Show » 3056 350.7 No 0