ABRAXAS1 (abraxas 1, BRCA1 A complex subunit)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84142
Gene name Gene Name - the full gene name approved by the HGNC.
Abraxas 1, BRCA1 A complex subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABRAXAS1
Synonyms (NCBI Gene) Gene synonyms aliases
ABRA1, CCDC98, FAM175A
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resista
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs114513239 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs137876115 G>A,C,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs150207999 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant
rs201948472 T>C Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs202166386 A>G Conflicting-interpretations-of-pathogenicity, benign 5 prime UTR variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
miRTarBase ID miRNA Experiments Reference
MIRT517694 hsa-miR-552-3p PAR-CLIP 23446348
MIRT517693 hsa-miR-3934-5p PAR-CLIP 23446348
MIRT517692 hsa-miR-1304-3p PAR-CLIP 23446348
MIRT517691 hsa-miR-3663-5p PAR-CLIP 23446348
MIRT517690 hsa-miR-6889-3p PAR-CLIP 23446348
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17525340, 17643121, 18077395, 19261748, 19261749, 19615732, 29656893
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 17525340, 17643121
GO:0005654 Component Nucleoplasm TAS
GO:0006302 Process Double-strand break repair IMP 17525340, 17643121, 19261748
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611143 25829 ENSG00000163322
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6UWZ7
Protein name BRCA1-A complex subunit Abraxas 1 (Coiled-coil domain-containing protein 98) (Protein FAM175A)
Protein 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
PDB 4JLU , 4U4A , 4Y18 , 4Y2G
Family and domains
Sequence 
MEGESTSAVLSGFVLGALAFQHLNTDSDTEGFLLGEVKGEAKNSITDSQMDDVEVVYTID
IQKYIPCYQLFSFYNSSGEVNEQALKKILSNVKKNVVGWYKFRRHSDQIMTFRERLLHKN
LQEHFSNQDLVFLLLTPSIITESCSTHRLEHSLYKPQKGLFHRVPLVVANLGMSEQLGYK
TVSGSCMSTGFSRAVQTHSSKFFEEDGSLKEVHKINEMYASLQEELKSICKKVEDSEQAV
DKLVKDVNRLKREIEKRRGAQIQAAREKNIQKDPQENIFLCQALRTFFPNSEFLHSCVMS
LKNRHVSKSSCNYNHHLDVVDNLTLMVEHTDIPEASPASTPQIIKHKALDLDDRWQFKRS
RLLDTQDKRSKADTGSSNQDKASKMSSPETDEEIEKMKGFGEYSRSPTF
Sequence length 409
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Homologous recombination   Metalloprotease DUBs
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
Processing of DNA double-strand break ends
G2/M DNA damage checkpoint
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)		 25105795, 22357538
Show/Hide Text Mining Associations (6)
Associations from Text Mining
Disease Name Relationship Type References
Breast Diseases Associate 34261476
Breast Neoplasms Associate 27270457, 27792995, 34261476, 35353237
Digestive System Neoplasms Associate 21437268
Glioma Associate 37086071
Neoplasms Associate 34261476
Ovarian Neoplasms Associate 21799032, 24240112