ABRAXAS2 abraxas 2, BRISC complex subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABRAXAS2provided by HGNC
Official Full Name: abraxas 2, BRISC complex subunitprovided by HGNC
Primary source: HGNC:HGNC:28975
See related: Ensembl:ENSG00000165660 MIM:611144; AllianceGenome:HGNC:28975
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ABRO1; FAM175B; KIAA0157
Summary: Enables microtubule binding activity and polyubiquitin modification-dependent protein binding activity. Involved in nuclear chromosome segregation; protein K63-linked deubiquitination; and response to ischemia. Located in cytoplasm; microtubule cytoskeleton; and midbody. Part of BRISC complex. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in thyroid (RPKM 8.5), lymph node (RPKM 6.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (124801819..124836667)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (125682874..125717721)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (126490388..126525236)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Transcriptional regulation of human abraxas brother protein 1 expression by yin yang 1.
Title: Transcriptional regulation of human abraxas brother protein 1 expression by yin yang 1.
ABRO1 stabilizes the deubiquitinase BRCC3 through inhibiting its degradation mediated by the E3 ubiquitin ligase WWP2.
Title: ABRO1 stabilizes the deubiquitinase BRCC3 through inhibiting its degradation mediated by the E3 ubiquitin ligase WWP2.
FAM175B inhibited ATF4 ubiquitination and promoted esophageal squamous cell carcinomas (ESCCs) cell apoptosis in a p53-independent manner. FAM175B expression loss may be an early diagnostic biomarker in ESCC patients.
Title: FAM175B promotes apoptosis by inhibiting ATF4 ubiquitination in esophageal squamous cell carcinoma.
pinpoint a direct interaction between the LNK SH2 domain and a phosphorylated tyrosine residue in KIAA0157 (Abraxas2), a unique and defining BRISC component.
Title: The BRISC deubiquitinating enzyme complex limits hematopoietic stem cell expansion by regulating JAK2 K63-ubiquitination.
In late S/G2 phase, the DNA damage-responsive E3 ligase RNF8 conjugates K63-linked ubiquitin chains to tankyrase 1, while in G1 phase such ubiquitin chains are removed by BRISC, an ABRO1/BRCC36-containing deubiquitinase complex.
Title: Cell cycle-regulated ubiquitination of tankyrase 1 by RNF8 and ABRO1/BRCC36 controls the timing of sister telomere resolution.
KIAA0157 allosterically activates a cognate deubiquitinating enzyme (DUB) partner and implicates super dimerization as a new regulatory mechanism underlying BRCC36 DUB activity.
Title: Higher-Order Assembly of BRCC36-KIAA0157 Is Required for DUB Activity and Biological Function.
ABRO1 is a novel p53 regulator that plays an important role in tumor suppression and the DNA damage response
Title: ABRO1 suppresses tumourigenesis and regulates the DNA damage response by stabilizing p53.
Study identified Abro1 as a specific interactor of THAP5, a zinc finger transcription factor that is involved in G2/M control and apoptosis.
Title: Regulation of Abro1/KIAA0157 during myocardial infarction and cell death reveals a novel cardioprotective mechanism for Lys63-specific deubiquitination.

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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

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

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

D10S2179 (e-PCR)
- UniSTS:56862

RH25376 (e-PCR)
- UniSTS:8766

RH11277 (e-PCR)
- UniSTS:51368

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
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 attachment of spindle microtubules to kinetochore	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K63-linked deubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ischemia	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BRISC complex	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
colocalizes_with microtubule minus-end	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with midbody	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with spindle pole centrosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BRISC complex subunit Abraxas 2

Names: BRISC complex subunit Abro1; abraxas brother 1; 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.