GeneID: 275



Names

Common Name: ETAA1 Type: Gene
Chromosome: 2 (NC_000002.12) Locus: NM_019002.4 (ETAA1)
HUGO Symbol: ETAA1 Full Name: ETAA1 activator of ATR kinase
Exons: 6 Introns: 5

Description:
The encoded protein functions as a replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity. It is recruited to stalled replication forks by the replication protein A (RPA) complex and interacts with several DNA damage response proteins including the BLM/TOP3α/RMI1/RMI2 and ATR/ATRIP complexes. A variation in ETAA1 associated with Hb F response to hydroxyurea in sickle cell disease cohorts.

Synonyms: ETAA16

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed
  2. Bass TE, Luzwick JW, Kavanaugh G, Carroll C, Dungrawala H, Glick GG, Feldkamp MD, Putney R, Chazin WJ, Cortez D, ETAA1 acts at stalled replication forks to maintain genome integrity., Nat. Cell Biol., 18(11), 1185-1195, 2016 PubMed
Created on 2019-09-25 10:33:07, Last reviewed on (Show full history)


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