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BOD1L1 biorientation of chromosomes in cell division 1 like 1 [ Homo sapiens (human) ]

Gene ID: 259282, updated on 27-Nov-2024

Summary

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Official Symbol
BOD1L1provided by HGNC
Official Full Name
biorientation of chromosomes in cell division 1 like 1provided by HGNC
Primary source
HGNC:HGNC:31792
See related
Ensembl:ENSG00000038219 MIM:616746; AllianceGenome:HGNC:31792
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
BOD1L; FAM44A
Summary
Involved in DNA damage response and replication fork processing. Located in nucleoplasm. Part of Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 8.2), testis (RPKM 7.4) and 25 other tissues See more
Orthologs
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Genomic context

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See BOD1L1 in Genome Data Viewer
Location:
4p15.33
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (13568738..13627725, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (13548429..13607428, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (13570362..13629349, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21325 Neighboring gene long intergenic non-protein coding RNA 1097 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:13548258-13548758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:13548759-13549259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15288 Neighboring gene Sharpr-MPRA regulatory region 12016 Neighboring gene NK3 homeobox 2 Neighboring gene long intergenic non-protein coding RNA 1096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:13600786-13601286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:13601287-13601787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:13628778-13629508 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:13629509-13630239 Neighboring gene ribosomal protein L21 pseudogene Neighboring gene microRNA 5091

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. Protection or resection: BOD1L as a novel replication fork protection factor. Higgs MR, et al. Nucleus, 2016. PMID 26889944, Free PMC Article
  2. BOD1L mediates chromatin binding and non-canonical function of H3K4 methyltransferase SETD1A. Hoshii T, et al. Nucleic Acids Res, 2024 Sep 9. PMID 38989615, Free PMC Article
  3. BOD1L Is Required to Suppress Deleterious Resection of Stressed Replication Forks. Higgs MR, et al. Mol Cell, 2015 Aug 6. PMID 26166705
  4. NSD3-Short Is an Adaptor Protein that Couples BRD4 to the CHD8 Chromatin Remodeler. Shen C, et al. Mol Cell, 2015 Dec 17. PMID 26626481, Free PMC Article
  5. Structural basis for activity regulation of MLL family methyltransferases. Li Y, et al. Nature, 2016 Feb 25. PMID 26886794, Free PMC Article

See all (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BOD1L mediates chromatin binding and non-canonical function of H3K4 methyltransferase SETD1A.
    Title: BOD1L mediates chromatin binding and non-canonical function of H3K4 methyltransferase SETD1A.
  2. Protection or resection: BOD1L as a novel replication fork protection factor.
    Title: Protection or resection: BOD1L as a novel replication fork protection factor.
  3. Results show that BOD1L protects against severe genome instability caused by replication stress; it maintains fork stability by stabilizing RAD51 nucleofilaments.
    Title: BOD1L Is Required to Suppress Deleterious Resection of Stressed Replication Forks.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

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

Homology

Clone Names

  • FLJ33215, KIAA1327

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
  
involved_in replication fork processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in replication fork processing IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of Set1C/COMPASS complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Set1C/COMPASS complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
biorientation of chromosomes in cell division protein 1-like 1
Names
biorientation of chromosomes in cell division 1-like
family with sequence similarity 44, member A

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_148894.3 → NP_683692.2  biorientation of chromosomes in cell division protein 1-like 1

    See identical proteins and their annotated locations for NP_683692.2

    Status: VALIDATED

    Source sequence(s)
    AB037748, AC006445, AF528529, AK090534, BX648206
    Consensus CDS
    CCDS3411.2
    UniProtKB/Swiss-Prot
    Q6P0M8, Q8NFC6, Q96AL1, Q9H6G0, Q9NTD6, Q9P2L9
    Related
    ENSP00000040738.5, ENST00000040738.10
    Conserved Domains (1) summary
    pfam05205
    Location:57 → 150
    COMPASS-Shg1; COMPASS (Complex proteins associated with Set1p) component shg1

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    13568738..13627725 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008010.2 → XP_016863499.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X8

  2. XM_005248151.4 → XP_005248208.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X4

    Conserved Domains (1) summary
    pfam05205
    Location:57 → 150
    COMPASS-Shg1; COMPASS (Complex proteins associated with Set1p) component shg1

  3. XM_017008009.2 → XP_016863498.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X7

  4. XM_006713958.4 → XP_006714021.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X2

    Conserved Domains (1) summary
    pfam05205
    Location:57 → 150
    COMPASS-Shg1; COMPASS (Complex proteins associated with Set1p) component shg1

  5. XM_005248150.4 → XP_005248207.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X3

    UniProtKB/TrEMBL
    H0Y9Y2
    Related
    ENSP00000425492.2, ENST00000507943.2
    Conserved Domains (1) summary
    pfam05205
    Location:57 → 150
    COMPASS-Shg1; COMPASS (Complex proteins associated with Set1p) component shg1

  6. XM_011513829.3 → XP_011512131.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X6

    Conserved Domains (1) summary
    pfam05205
    Location:57 → 150
    COMPASS-Shg1; COMPASS (Complex proteins associated with Set1p) component shg1

  7. XM_011513827.3 → XP_011512129.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X1

    Conserved Domains (1) summary
    pfam05205
    Location:57 → 150
    COMPASS-Shg1; COMPASS (Complex proteins associated with Set1p) component shg1

  8. XM_011513830.4 → XP_011512132.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X9

    Conserved Domains (1) summary
    PTZ00121
    Location:12 → 858
    PTZ00121; MAEBL; Provisional

  9. XM_047450037.1 → XP_047305993.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    13548429..13607428 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349629.1 → XP_054205604.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X8

  2. XM_054349625.1 → XP_054205600.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X4

  3. XM_054349628.1 → XP_054205603.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X7

  4. XM_054349623.1 → XP_054205598.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X2

  5. XM_054349624.1 → XP_054205599.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X3

  6. XM_054349627.1 → XP_054205602.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X6

  7. XM_054349622.1 → XP_054205597.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X1

  8. XM_054349630.1 → XP_054205605.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X9

  9. XM_054349626.1 → XP_054205601.1  biorientation of chromosomes in cell division protein 1-like 1 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NFC6.2 GenPept UniProtKB/Swiss-Prot:Q8NFC6

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