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    BOD1 biorientation of chromosomes in cell division 1 [ Homo sapiens (human) ]

    Gene ID: 91272, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BOD1provided by HGNC
    Official Full Name
    biorientation of chromosomes in cell division 1provided by HGNC
    Primary source
    HGNC:HGNC:25114
    See related
    Ensembl:ENSG00000145919 MIM:616745; AllianceGenome:HGNC:25114
    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
    FAM44B
    Summary
    Enables protein phosphatase 2A binding activity and protein phosphatase inhibitor activity. Involved in mitotic sister chromatid biorientation; mitotic sister chromatid cohesion, centromeric; and protein localization to chromosome, centromeric region. Located in centrosome; spindle microtubule; and spindle pole. Part of Set1C/COMPASS complex and outer kinetochore. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 15.5), ovary (RPKM 14.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BOD1 in Genome Data Viewer
    Location:
    5q35.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (173607145..173616650, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (174147207..174156712, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (173034148..173043653, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172971371-172971870 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:172983296-172984024 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:172995751-172996950 Neighboring gene long intergenic non-protein coding RNA 2995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:173055264-173056085 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:173059934-173061133 Neighboring gene long intergenic non-protein coding RNA 1863 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:173097006-173097602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23659 Neighboring gene long intergenic non-protein coding RNA 1942

    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 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. A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability. Hamdan N, et al. Clin Genet, 2020 Sep. PMID 32578875
    2. MiR-142-3p ameliorates high glucose-induced renal tubular epithelial cell injury by targeting BOD1. Zhao N, et al. Clin Exp Nephrol, 2021 Nov. PMID 34145485
    3. The Ndc80 complex targets Bod1 to human mitotic kinetochores. Schleicher K, et al. Open Biol, 2017 Nov. PMID 29142109, Free PMC Article
    4. Radiation induces premature chromatid separation via the miR-142-3p/Bod1 pathway in carcinoma cells. Pan D, et al. Oncotarget, 2016 Sep 13. PMID 27527863, Free PMC Article
    5. BOD1 Is Required for Cognitive Function in Humans and Drosophila. Esmaeeli-Nieh S, et al. PLoS Genet, 2016 May. PMID 27166630, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MiR-142-3p ameliorates high glucose-induced renal tubular epithelial cell injury by targeting BOD1.
      Title: MiR-142-3p ameliorates high glucose-induced renal tubular epithelial cell injury by targeting BOD1.
    2. A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
      Title: A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
    3. Kinetochore targeting of Bod1 depends on Ndc80 and not PP2A-B56. Bod1 depletion functionally affects Ndc80 phosphorylation at S55.
      Title: The Ndc80 complex targets Bod1 to human mitotic kinetochores.
    4. these results suggest that radiation alters miR-142-3p and Bod1 expression in carcinoma cells, and thus contributes to early stages of radiation-induced genomic instability
      Title: Radiation induces premature chromatid separation via the miR-142-3p/Bod1 pathway in carcinoma cells.
    5. we established two Drosophila models, where neuron-specific knockdown of BOD1 caused pronounced learning deficits and significant abnormalities in synapse morphology. Together our results reveal novel postmitotic functions of BOD1 as well as pathogenic mechanisms that strongly support a causative role of BOD1 deficiency in the aetiology of intellectual disability.
      Title: BOD1 Is Required for Cognitive Function in Humans and Drosophila.
    6. Bod1 regulates protein phosphatase 2A at mitotic kinetochores.
      Title: Bod1 regulates protein phosphatase 2A at mitotic kinetochores.
    7. Bod1 is a novel kinetochore protein that is required for the detection or resolution of syntelic attachments in mitotic spindles.
      Title: Bod1, a novel kinetochore protein required for chromosome biorientation.
    8. siRNA depeletion of Fam44B (named Bod1 - Biorientation Defective 1 in this publication) resulted in persistent chromosome congression defects in metaphase.
      Title: Bod1, a novel kinetochore protein required for chromosome biorientation.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase 2A binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic sister chromatid biorientation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic sister chromatid cohesion, centromeric IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to chromosome, centromeric region IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Set1C/COMPASS complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of outer kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    biorientation of chromosomes in cell division protein 1
    Names
    biorientation defective 1
    family with sequence similarity 44, 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.

    mRNA and Protein(s)

    1. NM_001159651.3 → NP_001153123.1  biorientation of chromosomes in cell division protein 1 isoform b

      See identical proteins and their annotated locations for NP_001153123.1

      Status: VALIDATED

      Source sequence(s)
      AC010339
      Consensus CDS
      CCDS54951.1
      UniProtKB/Swiss-Prot
      Q96IK1
      Related
      ENSP00000285908.5, ENST00000285908.5
      Conserved Domains (1) summary
      pfam05205
      Location:55 → 121
      COMPASS-Shg1; COMPASS (Complex proteins associated with Set1p) component shg1

    2. NM_138369.3 → NP_612378.1  biorientation of chromosomes in cell division protein 1 isoform a

      See identical proteins and their annotated locations for NP_612378.1

      Status: VALIDATED

      Source sequence(s)
      BC007436, BQ881883, DA506589
      Consensus CDS
      CCDS4389.1
      UniProtKB/Swiss-Prot
      B4DXH8, Q96IK1, Q9BTW1
      Related
      ENSP00000309644.4, ENST00000311086.9
      Conserved Domains (1) summary
      pfam05205
      Location:55 → 148
      COMPASS-Shg1; COMPASS (Complex proteins associated with Set1p) component shg1

    RNA

    1. NR_164700.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010339

    2. NR_164701.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010339

    3. NR_164702.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010339

    4. NR_164703.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010339

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      173607145..173616650 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      174147207..174156712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IK1.2 GenPept UniProtKB/Swiss-Prot:Q96IK1

    Gene LinkOut

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

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