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    BOLL boule homolog, RNA binding protein [ Homo sapiens (human) ]

    Gene ID: 66037, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BOLLprovided by HGNC
    Official Full Name
    boule homolog, RNA binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:14273
    See related
    Ensembl:ENSG00000152430 MIM:606165; AllianceGenome:HGNC:14273
    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
    BOULE
    Summary
    This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 22.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See BOLL in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197726890..197786206, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (198210564..198269863, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198591614..198650930, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907952 Neighboring gene NANOG hESC enhancer GRCh37_chr2:198447337-198447852 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:198451577-198452275 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:198452276-198452973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16940 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:198484019-198484523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:198484980-198485480 Neighboring gene raftlin family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:198532470-198533059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:198533060-198533648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16943 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:198593971-198594541 Neighboring gene methionyl-tRNA synthetase 2, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16944 Neighboring gene uncharacterized LOC105373828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12217 Neighboring gene PLCL1 intron CAGE-defined T cell enhancer Neighboring gene phospholipase C like 1 (inactive) Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:198737772-198738272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16948 Neighboring gene Sharpr-MPRA regulatory region 13904 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:198773623-198774822 Neighboring gene Sharpr-MPRA regulatory region 14302 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:198803213-198803426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12218

    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. Association of meiotic arrest with lack of BOULE protein expression in infertile men. Luetjens CM, et al. J Clin Endocrinol Metab, 2004 Apr. PMID 15070965
    2. Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population. Lepretre AC, et al. Int J Androl, 2004 Oct. PMID 15379971
    3. Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis. Westerveld GH, et al. Fertil Steril, 2005 Feb. PMID 15705409
    4. Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men. Kostova E, et al. Mol Hum Reprod, 2007 Feb. PMID 17114206
    5. Oncogenic Role of BOLL in Colorectal Cancer. Kang KJ, et al. Dig Dis Sci, 2015 Jun. PMID 25605553

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India.
      Title: Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India.
    2. Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes.
      Title: Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes.
    3. Four sterility-related genes, including BOLL, DDX4, HORMAD1, and MAEL, were found to have increased methylation at CpGs of the promoter regions and decreased mRNA expressions in nonobstructive azoospermia and hypospermatogenesis (HS) testis and are believed to be associated with HS.
      Title: Causes and Clinical Features of Infertile Men With Nonobstructive Azoospermia and Histopathologic Diagnosis of Hypospermatogenesis.
    4. hypermethylation of DAZL and BOULE promoters in human sperm is associated with human infertility
      Title: Highly conserved epigenetic regulation of BOULE and DAZL is associated with human fertility.
    5. Our study demonstrated an oncogenic role of BOLL in CRC despite tumor-specific promoter hypermethylation.
      Title: Oncogenic Role of BOLL in Colorectal Cancer.
    6. demonstrate that Boll is also transiently expressed during oogenesis in the fetal mouse ovary, but is simultaneously co-expressed within the same germ cells as Dazl
      Title: A developmental stage-specific switch from DAZL to BOLL occurs during fetal oogenesis in humans, but not mice.
    7. Assessing the expression of both CDY1 and BOULE by qualitative RT-PCR is a sensitive and feasible test for predicting the presence of sperm cells in testicular tissue biopsies.
      Title: CDY1 and BOULE transcripts assessed in the same biopsy as predictive markers for successful testicular sperm retrieval.
    8. expression of spermatogenic phenotypes of partial AZFc deletions is independent of the variations in DAZL and BOULE in the Han population
      Title: Phenotypic expression of partial AZFc deletions is independent of the variations in DAZL and BOULE in a Han population.
    9. human DAZL (deleted in azoospermia-like) functions in primordial germ-cell formation, whereas closely related genes DAZ and BOULE (also called BOLL) promote later stages of meiosis and development of haploid gametes
      Title: Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.
    10. CDC25A is subject to translational control by BOLL, which is an evolutionarily conserved mechanism.
      Title: Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Susceptibility loci for intracranial aneurysm in European and Japanese populations.
    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)

    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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables translation activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables translation activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 3'-UTR-mediated mRNA stabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within meiotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of translational initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of translational initiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein boule-like
    Names
    bol, boule-like
    boule-like RNA binding protein
    boule-like protein

    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_001284358.2 → NP_001271287.1  protein boule-like isoform 3

      See identical proteins and their annotated locations for NP_001271287.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks two consecutive exons in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC011997, AK302817
      Consensus CDS
      CCDS63081.1
      UniProtKB/Swiss-Prot
      Q8N9W6
      Related
      ENSP00000282278.8, ENST00000282278.12

    2. NM_001284361.2 → NP_001271290.1  protein boule-like isoform 4

      See identical proteins and their annotated locations for NP_001271290.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the UTRs and has multiple coding region differences one of which causes a frameshift, compared to variant 1. These differences also cause translation initiation at an alternate AUG. The enocoded isoform (4) is longer and has distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC011997, AK093453
      UniProtKB/TrEMBL
      F2Z2G3
      Related
      ENSP00000397711.1, ENST00000430004.5
      Conserved Domains (2) summary
      COG0724
      Location:38 → 119
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12673
      Location:37 → 117
      RRM_BOULE; RNA recognition motif in protein BOULE

    3. NM_001284362.2 → NP_001271291.1  protein boule-like isoform 5

      See identical proteins and their annotated locations for NP_001271291.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' most exon and initiated translation at a alternate start codon compared to variant 1. The encoded isoofrm (5) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC011997, AM295005
      UniProtKB/TrEMBL
      F2Z2G3
      Conserved Domains (2) summary
      COG0724
      Location:38 → 119
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12673
      Location:37 → 117
      RRM_BOULE; RNA recognition motif in protein BOULE

    4. NM_033030.6 → NP_149019.1  protein boule-like isoform 2

      See identical proteins and their annotated locations for NP_149019.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream in-frame start codon, as compared to variant 1. The encoded isoform 2 has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK058099, BC033674
      Consensus CDS
      CCDS2325.1
      UniProtKB/Swiss-Prot
      B4DZA4, Q0JW32, Q53T62, Q8N9W6, Q969U3
      UniProtKB/TrEMBL
      F2Z2G3
      Related
      ENSP00000376116.4, ENST00000392296.9
      Conserved Domains (2) summary
      cd12673
      Location:31 → 111
      RRM_BOULE; RNA recognition motif in protein BOULE
      cl25887
      Location:33 → 256
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

    5. NM_197970.3 → NP_932074.1  protein boule-like isoform 1

      See identical proteins and their annotated locations for NP_932074.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK097795, BC033674
      Consensus CDS
      CCDS2324.1
      UniProtKB/TrEMBL
      F2Z2G3
      Related
      ENSP00000314792.7, ENST00000321801.11
      Conserved Domains (2) summary
      COG0724
      Location:44 → 125
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12673
      Location:43 → 123
      RRM_BOULE; RNA recognition motif in protein BOULE

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      197726890..197786206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511692.4 → XP_011509994.1  protein boule-like isoform X1

      UniProtKB/TrEMBL
      F2Z2G3
      Conserved Domains (2) summary
      COG0724
      Location:44 → 125
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12673
      Location:43 → 123
      RRM_BOULE; RNA recognition motif in protein BOULE

    2. XM_011511694.3 → XP_011509996.1  protein boule-like isoform X4

      UniProtKB/TrEMBL
      F2Z2G3
      Conserved Domains (2) summary
      COG0724
      Location:32 → 113
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12673
      Location:31 → 111
      RRM_BOULE; RNA recognition motif in protein BOULE

    3. XM_024453053.2 → XP_024308821.1  protein boule-like isoform X2

      UniProtKB/TrEMBL
      F2Z2G3
      Conserved Domains (2) summary
      cd12673
      Location:41 → 121
      RRM_BOULE; RNA recognition motif in protein BOULE
      cl28087
      Location:122 → 307
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]

    4. XM_047445580.1 → XP_047301536.1  protein boule-like isoform X6

    5. XM_006712715.5 → XP_006712778.1  protein boule-like isoform X7

      Conserved Domains (2) summary
      COG0724
      Location:44 → 125
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12673
      Location:43 → 123
      RRM_BOULE; RNA recognition motif in protein BOULE

    6. XM_011511693.4 → XP_011509995.1  protein boule-like isoform X3

      Conserved Domains (2) summary
      COG0724
      Location:44 → 125
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12673
      Location:43 → 123
      RRM_BOULE; RNA recognition motif in protein BOULE

    7. XM_017004773.3 → XP_016860262.1  protein boule-like isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      198210564..198269863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343513.1 → XP_054199488.1  protein boule-like isoform X1

    2. XM_054343516.1 → XP_054199491.1  protein boule-like isoform X4

    3. XM_054343514.1 → XP_054199489.1  protein boule-like isoform X2

    4. XM_054343518.1 → XP_054199493.1  protein boule-like isoform X6

    5. XM_054343519.1 → XP_054199494.1  protein boule-like isoform X7

    6. XM_054343515.1 → XP_054199490.1  protein boule-like isoform X3

    7. XM_054343517.1 → XP_054199492.1  protein boule-like isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9W6.2 GenPept UniProtKB/Swiss-Prot:Q8N9W6

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