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

Gene ID: 91272, updated on 10-Dec-2024

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 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, Dec 2024]
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

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of Set1C/COMPASS complex PubMed 
located_in centrosome PubMed 
located_in cytoplasm  
located_in nucleoplasm  
part_of outer kinetochore PubMed 
located_in spindle microtubule PubMed 
located_in spindle pole PubMed 

General protein information

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_001159651.3NP_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:55121
    COMPASS-Shg1; COMPASS (Complex proteins associated with Set1p) component shg1
  2. NM_138369.3NP_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:55148
    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)
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