GeneID: 275
Names
Common Name: | ETAA1 | Type: | Gene |
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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
Number of entries/variants: 1
IthaScore
Publications / Origin
- 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
- 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
A/A | Date | Curator(s) | Comments |
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1 | 2019-09-25 10:33:07 | The IthaGenes Curation Team | Created |