ABRAXAS1 (abraxas 1, BRCA1 A complex subunit)

2017-05-01  

Identity

HGNC
ABRAXAS1
LOCATION
4q21.23
LOCUSID
84142
ALIAS
ABRA1,CCDC98,FAM175A

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163322ENST00000321945Q6UWZ7
ENSG00000163322ENST00000475656D6RHI5
ENSG00000163322ENST00000503217A0A087WXK1
ENSG00000163322ENST00000505489A0A087WWJ9
ENSG00000163322ENST00000506553D6REL5
ENSG00000163322ENST00000511801D6RAN3
ENSG00000163322ENST00000515303E9PHB9
ENSG00000163322ENST00000611288A0A087WZ78

Pathways

PathwaySourceExternal ID
Homologous recombinationKEGGko03440
Homologous recombinationKEGGhsa03440
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571
DeubiquitinationREACTOMER-HSA-5688426
Metalloprotease DUBsREACTOMER-HSA-5689901

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
175253402007Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response.310
180773952007Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage.222
176431222007CCDC98 is a BRCA1-BRCT domain-binding protein involved in the DNA damage response.98
176431212007CCDC98 targets BRCA1 to DNA damage sites.69
194151212009Customized treatment in non-small-cell lung cancer based on EGFR mutations and BRCA1 mRNA expression.43
223575382012Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.24
267781262016Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites.21
182708122009Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility.11
182708122009Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility.11
186959862009Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.10

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