ABRAXAS1 (abraxas 1, BRCA1 A complex subunit)

2017-05-01 Affiliation

Identity

HGNC

ABRAXAS1

LOCATION

4q21.23

LOCUSID

84142

ALIAS

ABRA1,CCDC98,FAM175A

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 84142
MIM: 611143
HGNC: 25829
Ensembl: ENSG00000163322

Variants:

dbSNP: 84142
ClinVar: 84142
TCGA: ENSG00000163322
COSMIC: ABRAXAS1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000163322	ENST00000321945	Q6UWZ7
ENSG00000163322	ENST00000475656	D6RHI5
ENSG00000163322	ENST00000503217	A0A087WXK1
ENSG00000163322	ENST00000505489	A0A087WWJ9
ENSG00000163322	ENST00000506553	D6REL5
ENSG00000163322	ENST00000511801	D6RAN3
ENSG00000163322	ENST00000515303	E9PHB9
ENSG00000163322	ENST00000611288	A0A087WZ78

Pathways

Pathway	Source	External ID
Homologous recombination	KEGG	ko03440
Homologous recombination	KEGG	hsa03440
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle Checkpoints	REACTOME	R-HSA-69620
G2/M Checkpoints	REACTOME	R-HSA-69481
G2/M DNA damage checkpoint	REACTOME	R-HSA-69473
DNA Repair	REACTOME	R-HSA-73894
DNA Double-Strand Break Repair	REACTOME	R-HSA-5693532
DNA Double Strand Break Response	REACTOME	R-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	REACTOME	R-HSA-5693565
Homology Directed Repair	REACTOME	R-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)	REACTOME	R-HSA-5693567
Processing of DNA double-strand break ends	REACTOME	R-HSA-5693607
Nonhomologous End-Joining (NHEJ)	REACTOME	R-HSA-5693571
Deubiquitination	REACTOME	R-HSA-5688426
Metalloprotease DUBs	REACTOME	R-HSA-5689901

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37198153	2023	ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients.	0
37198153	2023	ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients.	0
31000350	2019	Mutational analysis of theFAM175A gene in patients with premature ovarian insufficiency.	2
31630195	2019	BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells.	4
31000350	2019	Mutational analysis of theFAM175A gene in patients with premature ovarian insufficiency.	2
31630195	2019	BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells.	4
30786683	2018	Searching for new breast cancer-associated genes. ABRAXAS1 gene mutations in the group of BRCA1-negative patients.	0
30786683	2018	Searching for new breast cancer-associated genes. ABRAXAS1 gene mutations in the group of BRCA1-negative patients.	0
26778126	2016	Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites.	35
27270457	2016	ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.	4
28009280	2016	Three-Dimensional Architecture of the Human BRCA1-A Histone Deubiquitinase Core Complex.	10
26778126	2016	Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites.	35
27270457	2016	ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.	4
28009280	2016	Three-Dimensional Architecture of the Human BRCA1-A Histone Deubiquitinase Core Complex.	10
22357538	2012	Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.	32

Citation

Dessen P

ABRAXAS1 (abraxas 1, BRCA1 A complex subunit)

Atlas Genet Cytogenet Oncol Haematol. 2017-05-01

Online version: http://atlasgeneticsoncology.org/gene/56899/abraxas1-(abraxas-1-brca1-a-complex-subunit)

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