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

    Gene ID: 259282, updated on 7-Apr-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
    Predicted to enable protein phosphatase 2A binding activity and protein phosphatase inhibitor activity. Involved in cellular response to DNA damage stimulus and replication fork processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.2), testis (RPKM 7.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4p15.33
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (13568738..13627725, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (13548429..13607428, complement)
    105.20220307 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 Is Required to Suppress Deleterious Resection of Stressed Replication Forks. Higgs MR, et al. Mol Cell, 2015 Aug 6. PMID 26166705
    3. 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
    4. Structural basis for activity regulation of MLL family methyltransferases. Li Y, et al. Nature, 2016 Feb 25. PMID 26886794, Free PMC Article
    5. Identification of multi-SH3 domain-containing protein interactome in pancreatic cancer: a yeast two-hybrid approach. Thalappilly S, et al. Proteomics, 2008 Aug. PMID 18654987

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Protection or resection: BOD1L as a novel replication fork protection factor.
      Title: Protection or resection: BOD1L as a novel replication fork protection factor.
    2. 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.
    3. 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)

    Genotypes

    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_2023_10

    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

    Gene LinkOut

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

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