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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
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

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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

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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

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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

Protein

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

	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

ABRAXAS1 (abraxas 1, BRCA1 A complex subunit)