ABRAXAS1 (abraxas 1, BRCA1 A complex subunit)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 84142
• Gene name: Abraxas 1, BRCA1 A complex subunit
• Gene symbol: ABRAXAS1
• Synonyms (NCBI Gene): ABRA1, CCDC98, FAM175A
• 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

SNPs 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

miRNA 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

Gene ontology (GO) 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

Other IDs

• MIM: 611143
• HGNC: 25829
• e!Ensembl: 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
• Sequence:

  MEGESTSAVLSGFVLGALAFQHLNTDSDTEGFLLGEVKGEAKNSITDSQMDDVEVVYTID
  IQKYIPCYQLFSFYNSSGEVNEQALKKILSNVKKNVVGWYKFRRHSDQIMTFRERLLHKN
  LQEHFSNQDLVFLLLTPSIITESCSTHRLEHSLYKPQKGLFHRVPLVVANLGMSEQLGYK
  TVSGSCMSTGFSRAVQTHSSKFFEEDGSLKEVHKINEMYASLQEELKSICKKVEDSEQAV
  DKLVKDVNRLKREIEKRRGAQIQAAREKNIQKDPQENIFLCQALRTFFPNSEFLHSCVMS
  LKNRHVSKSSCNYNHHLDVVDNLTLMVEHTDIPEASPASTPQIIKHKALDLDDRWQFKRS
  RLLDTQDKRSKADTGSSNQDKASKMSSPETDEEIEKMKGFGEYSRSPTF

• Sequence length: 409

Pathways

KEGG Pathway	Reactome Pathway
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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (7)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ABRAXAS1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast cancer, ABRAXAS1-related	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (18)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Cancer, Familial	Breast Cancer	BEFREE	18270812		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18270812, 18695986, 27270457, 27792995, 31630195		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	34261476	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27270457, 27792995, 34261476, 35353237	Associate	★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	21437268	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37086071	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	31361614		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18270812, 18695986, 27270457, 27792995, 31630195		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG	22357538, 25105795		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24240112		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31000350		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18270812		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21799032, 24240112	Associate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	31000350		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31361614		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

BABAM1 6 shared pathwaysHomologous recombination, 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, Metalloprotease DUBs Related via 6 shared pathways including Homologous recombination, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks. UIMC1 6 shared pathwaysHomologous recombination, 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, Metalloprotease DUBs Related via 6 shared pathways including Homologous recombination, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks. BABAM2 6 shared pathwaysHomologous recombination, 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, Metalloprotease DUBs Related via 6 shared pathways including Homologous recombination, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks. BRCC3 6 shared pathwaysHomologous recombination, 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, Metalloprotease DUBs Related via 6 shared pathways including Homologous recombination, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks. RNF8 4 shared pathwaysRecruitment 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 Related via 4 shared pathways including Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, Nonhomologous End-Joining (NHEJ).

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
BABAM1	0	[]	6	["Homologous recombination","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","Metalloprotease DUBs"]	0	[]
UIMC1	0	[]	6	["Homologous recombination","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","Metalloprotease DUBs"]	0	[]
BABAM2	0	[]	6	["Homologous recombination","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","Metalloprotease DUBs"]	0	[]
BRCC3	0	[]	6	["Homologous recombination","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","Metalloprotease DUBs"]	0	[]
RNF8	0	[]	4	["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"]	0	[]

Diseases Linked via Similar Genes

Uterine fibroid Linked via 2 of 5 related genesUIMC1, BABAM2 Venous thromboembolism Linked via 2 of 5 related genesBABAM2, BRCC3 Biliary tract cancer Linked via 1 of 5 related genesBABAM1 Breast cancer Linked via 1 of 5 related genesBABAM1 Cancer Linked via 1 of 5 related genesBABAM1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Uterine fibroid	2	["UIMC1","BABAM2"]
Venous thromboembolism	2	["BABAM2","BRCC3"]
Biliary tract cancer	1	["BABAM1"]
Breast cancer	1	["BABAM1"]
Cancer	1	["BABAM1"]