| Type | Description |
|---|---|
| Definition | abraxas 1, BRCA1 A complex subunit |
| Date | Results | Publications |
|---|---|---|
| 2020-07-11 12:44:00 | the p.L243V variant of FAM175A may not be causative for premature ovarian insufficiency | 31000350 |
| 2020-06-27 12:29:00 | Authors demonstrate in patient-derived cells that the Finnish ABRAXAS1 founder mutation (c.1082G > A, Arg361Gln), even in the heterozygous state leads to decreased BRCA1 protein levels as well as reduced nuclear localization and foci formation of BRCA1 and CtIP. | 31630195 |
| 2019-05-25 10:58:00 | IN 96 BRCA1-negative breast cancer patients two missense variants: c.422C>T and c.1042G>A as well as two intronic variants: IVS3-34G>A, IVS3-44T>C were detected in the ABRAXAS1 gene. | 30786683 |
| 2017-11-26 00:38:00 | Our data also suggest how ataxia telangiectasia mutated (ATM)-dependent BRCA1 dimerization may stabilize self-association of the entire BRCA1-A complex. | 28009280 |
| 2017-07-22 10:30:00 | Results identified 16 novel rare variants in FAM175A but no significant difference in allele frequencies between cases and controls was observed which suggest no evidence that rare variants in ABRAXAS are associated with increased breast cancer risk in the population studied. | 27270457 |
| Type | IDs |
|---|---|
| Synonymous | ABRA1, CCDC98, FAM175A |
| Gene |
UniProtKB-ID:
ABRX1_HUMAN,
D6REL5_HUMAN
UniprotKB:
Q6UWZ7,
D6REL5
UniParc:
UPI00005A8ABD,
UPI0001D3B5F5,
UPI0000073CB4
EMBL:
EF531340,
AK023676,
AC096768,
BC039573,
AK022704,
CH471057,
AY358576
Ensembl:
ENSG00000163322
KO:
hsa:84142
|
| Nucleutide sequences |
EMBL-CDS:
ABP87396.1,
BAB14635.1,
AAQ88939.1,
BAB14189.1,
EAX05942.1,
AAH39573.1
Gene_ORFName:
UNQ496/PRO1013
Ensembl_TRS:
ENST00000321945,
ENST00000506553
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000369857,
ENSP00000426763
RefSeq:
NP_620775.2,
NP_001332891.1,
XP_005263337.1
|
| Others |
UniRef100:
UniRef100_Q6UWZ7
UniRef90:
UniRef90_Q6UWZ7
UniRef50:
UniRef50_Q6UWZ7
UniGene:
Hs.334772
CCDS:
CCDS3605.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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