Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84142
Gene name	Abraxas 1, BRCA1 A complex subunit
Gene symbol	ABRAXAS1
Synonyms (NCBI Gene)	ABRA1CCDC98FAM175A
Chromosome	4
Chromosome location	4q21.23
Summary	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

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
rs1553938364	AGCACAAAGCCCGAGAGCACCG>-	Likely-pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant

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
MIRT517688	hsa-miR-4252	PAR-CLIP	23446348
MIRT517689	hsa-miR-1254	PAR-CLIP	23446348
MIRT517687	hsa-miR-3116	PAR-CLIP	23446348
MIRT517686	hsa-miR-661	PAR-CLIP	23446348
MIRT517685	hsa-miR-1271-3p	PAR-CLIP	23446348
MIRT517684	hsa-miR-550a-3-5p	PAR-CLIP	23446348
MIRT517683	hsa-miR-550a-5p	PAR-CLIP	23446348
MIRT517682	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT517680	hsa-miR-6843-3p	PAR-CLIP	23446348
MIRT517681	hsa-miR-6848-3p	PAR-CLIP	23446348
MIRT517679	hsa-miR-550b-2-5p	PAR-CLIP	23446348

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17525340, 17643121, 18077395, 19261748, 19261749, 19615732, 29656893, 34591612, 35156780, 36012204, 39009827
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17525340, 17643121
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	20656689
GO:0005654	Component	Nucleoplasm	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006282	Process	Regulation of DNA repair	NAS	20656689
GO:0006302	Process	Double-strand break repair	IMP	17525340, 17643121, 19261748
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IMP	17525340, 17643121, 19261748
GO:0008017	Function	Microtubule binding	IBA
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IBA
GO:0010212	Process	Response to ionizing radiation	IMP	17525340, 17643121, 19261748
GO:0016604	Component	Nuclear body	IDA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IBA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	19261749
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0045739	Process	Positive regulation of DNA repair	IMP	17525340, 19261748
GO:0070531	Component	BRCA1-A complex	IDA	17525340, 19261746, 19261748, 19261749
GO:0070531	Component	BRCA1-A complex	NAS	20656689
GO:0090307	Process	Mitotic spindle assembly	IBA

MIM	HGNC	e!Ensembl
611143	25829	ENSG00000163322

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

	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

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ABRAXAS1-related disorder	Benign; Likely benign; Uncertain significance	rs150207999, rs368088450, rs202166386, rs755755614, rs144724610, rs145796091, rs13125836, rs79357787, rs367969368	RCV003905109 RCV003937477 RCV003937476 RCV005355862 RCV003932764 RCV003970361 RCV003972800 RCV003925386 RCV003905510
Hereditary breast cancer, ABRAXAS1-related	Uncertain significance	rs749184518	RCV003469164
Hereditary breast ovarian cancer syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs1459549033, rs1722173605, rs1722231029, rs1578126311, rs772825230, rs1722533842	RCV001580774 RCV001030694 RCV001030695 RCV001030696 RCV001030697 RCV001580570
Hereditary cancer-predisposing syndrome	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs12642536, rs75295148, rs6535478, rs587780262, rs587780263, rs201948472, rs724159832, rs151220976, rs115192589, rs144453483, rs149402633, rs759681678, rs188900531, rs191051176, rs182947222 View all (4 more)	RCV005629607 RCV005629634 RCV005629642 RCV000116184 RCV000708702 RCV000708703 RCV000116193 RCV000209696 RCV000209079 RCV000209367 RCV000209813 RCV000209184 RCV000209387 RCV000209715 RCV000209205 RCV000209532 RCV000210171 RCV000708633 RCV003169033
Malignant tumor of breast	Uncertain significance	rs755313466	RCV003233041
Ovarian cancer	Benign	rs144724610	RCV005899607
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs200068246	RCV005912433

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

ABRAXAS1 (abraxas 1, BRCA1 A complex subunit)