The Clinical Proteomic Technologies for Cancer (original) (raw)

Ataxia Telangiectasia Mutated Peptide 2

Background

NCI Identification Number:

00191

Antigen Name:

Ataxia Telangiectasia Mutated Peptide 2

CPTC Name:

CPTC-ATM Peptide 2

Aliases:

ATA; ATC; ATD; ATDC; Tel1; A-T Mutated; AT1; Ataxia Telangiectasia Mutated; EC 2.7.11.1; Telomere Maintenance 1; Ataxia Telangiectasia Mutated (Includes Complementation Groups A, C And D); ATE; TELO1; AT mutated; Serine-Protein Kinase ATM; TEL1, Telomere Maintenance 1, Homolog

Function:

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.

ATM (ataxia telangiectasia mutated) is a protein-coding gene. Diseases associated with ATM include chromosome 11q deletion, and ataxia telangiectasia. GO annotations related to this gene include protein serine/threonine kinase activity and protein complex binding.

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/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. 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, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 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.

ATM (Ataxia telangiectasia mutated) and ATR (Ataxia telangiectasia and Rad3 related) are closely related kinases that are activated by DNA damage. These serine-threonine protein kinases are part of the phosphatidylinositol 3' kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage binding proteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by phosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest and either DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilst ATR is activated by single strand breaks and phosphorylates Chk1.

Chromosomal Localization:

11q22.q23

Accession Number:

NP_000042.3

UniProt Accession Number:

Q13315

DNA Source:

N/A

Immunogen:

Synthetic Peptide

Vector Name:

N/A

Extinction Coefficient:

Buffers:

Expressed Sequence:

NL(pS)DIDQSFNK (pS2996)

Native Sequence:

Calculated Isoelectric Point:

0

Molecular Weight:

1210

Last Updated:

02/16/2017

Characterization Data

SOPs

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