Abraxas2 BRISC complex subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abraxas2provided by MGI
Official Full Name: BRISC complex subunitprovided by MGI
Primary source: MGI:MGI:1926116
See related: Ensembl:ENSMUSG00000030965 AllianceGenome:MGI:1926116
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Abro1; Fam175b; C430003P19Rik
Summary: Predicted to enable microtubule binding activity and polyubiquitin modification-dependent protein binding activity. Involved in negative regulation of apoptotic process; protein K63-linked deubiquitination; and response to ischemia. Acts upstream of or within cellular response to freezing. Located in cytoplasm and nucleus. Orthologous to human ABRAXAS2 (abraxas 2, BRISC complex subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 10.5), CNS E11.5 (RPKM 9.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 76.32 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (132460954..132486843)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (132859225..132885114)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ABRO1 arrests cardiomyocyte proliferation and myocardial repair by suppressing PSPH.
Title: ABRO1 arrests cardiomyocyte proliferation and myocardial repair by suppressing PSPH.
reveal an ABRO1-mediated regulatory signaling system that controls activation of the NLRP3 inflammasome and provide novel potential targets for treating NLRP3-associated inflammatory diseases
Title: ABRO1 promotes NLRP3 inflammasome activation through regulation of NLRP3 deubiquitination.
Abro1 deficiency results in increased chromosome instability, and Abro1-null mice are tumor-prone.
Title: Abro1 maintains genome stability and limits replication stress by protecting replication fork stability.
Abraxas deficiency causes defective DNA repair, genetic instability, decreased survival and increased tumor incidence.
Title: The BRCA1-interacting protein Abraxas is required for genomic stability and tumor suppression.
Data shows that the expression of Abro1 protein substantially increased (at least three-fold) in the hearts of mice that underwent MI/R compared to sham operated controls.
Title: Regulation of Abro1/KIAA0157 during myocardial infarction and cell death reveals a novel cardioprotective mechanism for Lys63-specific deubiquitination.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124981 (e-PCR)
- UniSTS:161803

EST-CFZ97746 (e-PCR)
- UniSTS:263450

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AI853413 (e-PCR)
- UniSTS:179660

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables polyubiquitin modification-dependent protein binding	ISO Inferred from Sequence Orthology more info
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 attachment of spindle microtubules to kinetochore	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular response to freezing	IGI Inferred from Genetic Interaction more info	PubMed
involved_in chromosome segregation	ISO Inferred from Sequence Orthology more info
involved_in mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in mitotic spindle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	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 protein K63-linked deubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K63-linked deubiquitination	ISO Inferred from Sequence Orthology more info
involved_in response to ischemia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ischemia	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BRISC complex	ISO Inferred from Sequence Orthology more info
colocalizes_with centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
colocalizes_with microtubule minus-end	ISO Inferred from Sequence Orthology more info
colocalizes_with midbody	ISO Inferred from Sequence Orthology 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
colocalizes_with spindle pole centrosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: BRISC complex subunit Abraxas 2

Names: BRISC complex subunit Abro1; abraxas brother protein 1; family with sequence similarity 175, member B

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.