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    BORA BORA aurora kinase A activator [ Homo sapiens (human) ]

    Gene ID: 79866, updated on 2-May-2024

    Summary

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    Official Symbol
    BORAprovided by HGNC
    Official Full Name
    BORA aurora kinase A activatorprovided by HGNC
    Primary source
    HGNC:HGNC:24724
    See related
    Ensembl:ENSG00000136122 MIM:610510; AllianceGenome:HGNC:24724
    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
    C13orf34
    Summary
    BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 4.2), appendix (RPKM 3.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    13q21.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (72727923..72756196)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (71949448..71977692)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (73302061..73330334)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 80, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr13:73301228-73301409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7814 Neighboring gene mitotic spindle organizing protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:73355230-73356144 Neighboring gene DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease Neighboring gene progesterone immunomodulatory binding factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:73426017-73426548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:73426549-73427078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7816 Neighboring gene RNA, U6 small nuclear 79, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr13:73509249-73509443 Neighboring gene NANOG hESC enhancer GRCh37_chr13:73534622-73535123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:73610339-73611015 Neighboring gene proteasome 26S subunit, non-ATPase, 10 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Cell cycle protein Bora serves as a novel poor prognostic factor in multiple adenocarcinomas. Zhang QX, et al. Oncotarget, 2017 Jul 4. PMID 28402276, Free PMC Article
    2. Bora downregulation results in radioresistance by promoting repair of double strand breaks. Cairns J, et al. PLoS One, 2015. PMID 25742493, Free PMC Article
    3. Bora phosphorylation substitutes in trans for T-loop phosphorylation in Aurora A to promote mitotic entry. Tavernier N, et al. Nat Commun, 2021 Mar 26. PMID 33771996, Free PMC Article
    4. Ataxia telangiectasia-mutated- and Rad3-related protein regulates the DNA damage-induced G2/M checkpoint through the Aurora A cofactor Bora protein. Qin B, et al. J Biol Chem, 2013 May 31. PMID 23592782, Free PMC Article
    5. Aurora A kinase activation: Different means to different ends. Tavernier N, et al. J Cell Biol, 2021 Sep 6. PMID 34287649, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Aurora A kinase activation: Different means to different ends.
      Title: Aurora A kinase activation: Different means to different ends.
    2. Bora phosphorylation substitutes in trans for T-loop phosphorylation in Aurora A to promote mitotic entry.
      Title: Bora phosphorylation substitutes in trans for T-loop phosphorylation in Aurora A to promote mitotic entry.
    3. our findings demonstrated that Bora was overexpressed and served as an independent biomarker for poor prognosis in multiple adenocarcinomas.
      Title: Cell cycle protein Bora serves as a novel poor prognostic factor in multiple adenocarcinomas.
    4. the mechanism of Plk1 activation and the potential role of Bora phosphorylation by Cdk1, is reported.
      Title: Mitotic entry: The interplay between Cdk1, Plk1 and Bora.
    5. These results reveal a crucial and conserved role of phosphorylation of the N terminus of Bora for Plk1 activation and mitotic entry.
      Title: Cdk1 Phosphorylates SPAT-1/Bora to Promote Plk1 Activation in C. elegans and Human Cells.
    6. Bora was found to play a significant role in radiosensitivity through the regulation of MDC1 and DNA repair.
      Title: Bora downregulation results in radioresistance by promoting repair of double strand breaks.
    7. Activation of Plk1 by Aurora-A may function as a bistable switch
      Title: Bora and Aurora-A continue to activate Plk1 in mitosis.
    8. Pin1 acts as a negative regulator of the G2/M transition by interacting with the Aurora-A-Bora complex.
      Title: Pin1 acts as a negative regulator of the G2/M transition by interacting with the Aurora-A-Bora complex.
    9. Following UV irradiation, ataxia telangiectasia-mutated- and Rad3-related protein phosphorylates Bora at Thr-501. The phosphorylated Thr-501 is subsequently recognized by the E3 ubiquitin ligase SCF-beta-TRCP, which targets Bora for degradation.
      Title: Ataxia telangiectasia-mutated- and Rad3-related protein regulates the DNA damage-induced G2/M checkpoint through the Aurora A cofactor Bora protein.
    10. Observational study and genome-wide association study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22624

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of mitotic nuclear division IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitotic spindle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in meiotic spindle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein aurora borealis

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001286746.3 → NP_001273675.2  protein aurora borealis isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL138695, BC007119, BC056876, BX648605, CF529405
      Consensus CDS
      CCDS9446.3
      UniProtKB/Swiss-Prot
      B4DQ30, Q5W0P3, Q5W0P4, Q6PGQ7, Q86YC6, Q96IW9, Q9H640
      UniProtKB/TrEMBL
      A8K631
      Related
      ENSP00000498664.1, ENST00000651477.1
      Conserved Domains (1) summary
      pfam15280
      Location:7 → 213
      BORA_N; Protein aurora borealis N-terminus

    2. NM_001286747.2 → NP_001273676.1  protein aurora borealis isoform 3

      See identical proteins and their annotated locations for NP_001273676.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK298608, BC007119, CF529405
      Consensus CDS
      CCDS66560.1
      UniProtKB/TrEMBL
      A8K631
      Related
      ENSP00000498882.1, ENST00000652266.1
      Conserved Domains (1) summary
      pfam15280
      Location:17 → 143
      BORA_N; Protein aurora borealis N-terminus

    3. NM_001366664.2 → NP_001353593.1  protein aurora borealis isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL138695
      UniProtKB/TrEMBL
      A8K631

    4. NM_024808.5 → NP_079084.4  protein aurora borealis isoform 1

      Status: VALIDATED

      Source sequence(s)
      BC007119, BC056876, BM923278, CF529405
      Consensus CDS
      CCDS9446.3
      UniProtKB/Swiss-Prot
      B4DQ30, Q5W0P3, Q5W0P4, Q6PGQ7, Q86YC6, Q96IW9, Q9H640
      UniProtKB/TrEMBL
      A8K631
      Related
      ENSP00000375082.6, ENST00000390667.11
      Conserved Domains (1) summary
      pfam15280
      Location:7 → 213
      BORA_N; Protein aurora borealis N-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      72727923..72756196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      71949448..71977692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PGQ7.2 GenPept UniProtKB/Swiss-Prot:Q6PGQ7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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