| Gene Symbol |
FAM175A
|
| Entrez Gene |
84142
|
| Alt Symbol |
ABRA1, CCDC98
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
family with sequence similarity 175, member A
|
| Other Description |
BRCA1-A complex subunit Abraxas|abraxas protein|coiled-coil domain containing 98|coiled-coil domain-containing protein 98
|
| Swissprots |
A5JJ07 Q9H8I1 Q9H9N4 Q6UWZ7
|
| Accessions |
EAX05941 EAX05942 EAX05943 Q6UWZ7 AK021582 AK022704 BAB14189 AK023676 BAB14635 AY358576 AAQ88939 BC016905 AAH16905 BC039573 AAH39573 BQ775930 DA765424 EF531340 ABP87396 XM_005263280 XP_005263337 XM_005263281 XP_005263338 XM_011532318 XP_011530620 NM_139076 NP_620775
|
| Function |
Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. {ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:17643122, ECO:0000269|PubMed:18077395, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:22357538}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:17643122}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs).
|