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

Gene ID: 91272, updated on 7-Apr-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 segregation; negative regulation of phosphoprotein phosphatase activity; and protein localization to chromosome, centromeric region. Located in centrosome; spindle microtubule; and spindle pole. Part of outer kinetochore. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 15.5), ovary (RPKM 14.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
5q35.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (173607145..173616650, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (174147207..174156712, complement)
105.20220307 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
  • 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 (24) 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 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 negative regulation of phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
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_2023_10

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.

Chemical Information
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