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

Gene ID: 66037, updated on 3-Apr-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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Location:
2q33.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197726890..197786206, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (198210564..198269863, complement)
105.20220307 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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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)

Genotypes

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_2023_10

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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