| Gene Symbol |
C17orf70
|
| Entrez Gene |
80233
|
| Alt Symbol |
FAAP100
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
chromosome 17 open reading frame 70
|
| Other Description |
Fanconi anemia associated protein 100 kDa subunit|Fanconi anemia core complex 100 kDa subunit|Fanconi anemia-associated protein of 100 kDa|Fanconi anemia-associated protein, 100kDa
|
| Swissprots |
Q8N3F7 Q9BV13 A6NNM1 Q9H7E8 Q0VG06 Q9H6K7
|
| Accessions |
EAW89655 EAW89656 EAW89657 EAW89658 EAW89659 EAW89660 Q0VG06 AK024644 BAB14944 AK025828 BAB15251 AK054713 BAG51415 AK225370 AL834374 CAD39037 BC001724 AAH01724 BC008883 BC021968 AAH21968 BC117139 AAI17140 BC117141 AAI17142 BC143861 CN366430 DA103390 DQ989324 ABK88282 JF432863 ADZ16080 XM_006722111 XP_006722174 XM_006722112 XP_006722175 XR_429925 NM_025161 NP_079437 NR_033338
|
| Function |
Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. {ECO:0000269|PubMed:17396147}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:17396147}.
|
| Top Pathways |
Fanconi anemia pathway
|