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

Summary

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: mouse all
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Genomic context

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_000005.10 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
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?

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.
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.
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.
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.
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.
Bod1 regulates protein phosphatase 2A at mitotic kinetochores.
Title: Bod1 regulates protein phosphatase 2A at mitotic kinetochores.
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.
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.

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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

EBI GWAS Catalog

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

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

D5S2321 (e-PCR)
- UniSTS:59689

WI-12001 (e-PCR)
- UniSTS:45229

A002Q30 (e-PCR)
- UniSTS:17085

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)

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
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