ABRAXAS1 abraxas 1, BRCA1 A complex subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABRAXAS1provided by HGNC
Official Full Name: abraxas 1, BRCA1 A complex subunitprovided by HGNC
Primary source: HGNC:HGNC:25829
See related: Ensembl:ENSG00000163322 MIM:611143; AllianceGenome:HGNC:25829
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ABRA1; CCDC98; FAM175A
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 resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression: Ubiquitous expression in ovary (RPKM 9.6), testis (RPKM 8.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q21.23

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (83459517..83485100, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (86789585..86815160, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (84380670..84406253, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients.
Title: ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients.
the p.L243V variant of FAM175A may not be causative for premature ovarian insufficiency
Title: Mutational analysis of theFAM175A gene in patients with premature ovarian insufficiency.
Authors demonstrate in patient-derived cells that the Finnish ABRAXAS1 founder mutation (c.1082G > A, Arg361Gln), even in the heterozygous state leads to decreased BRCA1 protein levels as well as reduced nuclear localization and foci formation of BRCA1 and CtIP.
Title: BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells.
IN 96 BRCA1-negative breast cancer patients two missense variants: c.422C>T and c.1042G>A as well as two intronic variants: IVS3-34G>A, IVS3-44T>C were detected in the ABRAXAS1 gene.
Title: Searching for new breast cancer-associated genes. ABRAXAS1 gene mutations in the group of BRCA1-negative patients.
Our data also suggest how ataxia telangiectasia mutated (ATM)-dependent BRCA1 dimerization may stabilize self-association of the entire BRCA1-A complex.
Title: Three-Dimensional Architecture of the Human BRCA1-A Histone Deubiquitinase Core Complex.
Results identified 16 novel rare variants in FAM175A but no significant difference in allele frequencies between cases and controls was observed which suggest no evidence that rare variants in ABRAXAS are associated with increased breast cancer risk in the population studied.
Title: ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.
Demonstrate a mechanism involving IR-induced phosphorylation and dimerization of the BRCT/Abraxas complex for regulating Abraxas-mediated recruitment of BRCA1 in response to IR.
Title: Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites.
The recurrent Abraxas c.1082G>A mutation connects to breast cancer predisposition.
Title: Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.
low expression correlates with better response to chemotherapy and longer survival in patients with advanced non small-cell lung cancer
Title: Tubulin, BRCA1, ERCC1, Abraxas, RAP80 mRNA expression, p53/p21 immunohistochemistry and clinical outcome in patients with advanced non small-cell lung cancer receiving first-line platinum-gemcitabine chemotherapy.
it seems unlikely that moderate to highly penetrant alleles of either RAP80 or Abraxas, confer a significantly high relative risk of breast cancer.
Title: Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-07-18) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2023-07-18) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71183 (e-PCR)
- UniSTS:58659

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

G30051 (e-PCR)
- UniSTS:50999

D1S1425 (e-PCR)
- UniSTS:149621

RH103362 (e-PCR)
- UniSTS:97691

L17971 (e-PCR)
- UniSTS:43966

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in attachment of spindle microtubules to kinetochore	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G2 DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G2/M transition checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic spindle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K63-linked deubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BRCA1-A complex	IDA Inferred from Direct Assay more info	PubMed
part_of BRCA1-A complex	NAS Non-traceable Author Statement more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: BRCA1-A complex subunit Abraxas 1

Names: abraxas protein; coiled-coil domain containing 98; family with sequence similarity 175 member A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.