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

Gene ID: 84142, updated on 23-Nov-2021

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
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
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Genomic context

See ABRAXAS1 in Genome Data Viewer
Location:
4q21.23
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (83459517..83485137, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (84380670..84406253, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene chromosome 18 open reading frame 21 pseudogene Neighboring gene helicase, POLQ like Neighboring gene Sharpr-MPRA regulatory region 5990 Neighboring gene mitochondrial ribosomal protein S18C Neighboring gene solute carrier family 25 member 14 pseudogene 1 Neighboring gene ribosomal protein L30 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 4722 Neighboring gene glycerol-3-phosphate acyltransferase 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
GeneReviews: Not available

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2021-04-14)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2021-04-14)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11520, FLJ12642, FLJ13614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 spindle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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 
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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.

Genomic

  1. NG_051599.1 RefSeqGene

    Range
    5042..29240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001345962.2NP_001332891.1  BRCA1-A complex subunit Abraxas 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC096768
    UniProtKB/Swiss-Prot
    Q6UWZ7
  2. NM_139076.3NP_620775.2  BRCA1-A complex subunit Abraxas 1 isoform 1

    See identical proteins and their annotated locations for NP_620775.2

    Status: REVIEWED

    Source sequence(s)
    AC096768
    Consensus CDS
    CCDS3605.2
    UniProtKB/Swiss-Prot
    Q6UWZ7
    Related
    ENSP00000369857.3, ENST00000321945.12

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    83459517..83485137 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263280.5XP_005263337.1  BRCA1-A complex subunit Abraxas 1 isoform X1

    UniProtKB/TrEMBL
    D6REL5
    Related
    ENSP00000426763.1, ENST00000506553.5

RNA

  1. XR_001741334.2 RNA Sequence

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