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Aliases for BOLL Gene

Aliases for BOLL Gene

  • Boule-Like RNA-Binding Protein 2 3
  • BOULE 3 4 6
  • Bol (Drosophila Boule Homolog)-Like 2
  • Bol, Boule-Like (Drosophila) 2
  • Protein Boule-Like 3
  • Bol, Boule-Like 3

External Ids for BOLL Gene

Summaries for BOLL Gene

Entrez Gene Summary for BOLL Gene

  • 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]

GeneCards Summary for BOLL Gene

BOLL (Boule-Like RNA-Binding Protein) is a Protein Coding gene. Diseases associated with BOLL include actinomycosis and azoospermia. GO annotations related to this gene include RNA binding and translation activator activity. An important paralog of this gene is DAZL.

UniProtKB/Swiss-Prot for BOLL Gene

  • Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3-UTR of mRNAs and regulating their translation (By similarity).

Gene Wiki entry for BOLL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BOLL Gene

Genomics for BOLL Gene

Genomic Location for BOLL Gene

Start:
197,726,879 bp from pter
End:
197,786,762 bp from pter
Size:
59,884 bases
Orientation:
Minus strand

Genomic View for BOLL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BOLL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BOLL Gene

Regulatory Elements for BOLL Gene

Proteins for BOLL Gene

  • Protein details for BOLL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9W6-BOLL_HUMAN
    Recommended name:
    Protein boule-like
    Protein Accession:
    Q8N9W6
    Secondary Accessions:
    • B4DZA4
    • Q0JW32
    • Q53T62
    • Q969U3

    Protein attributes for BOLL Gene

    Size:
    283 amino acids
    Molecular mass:
    31301 Da
    Quaternary structure:
    • Interacts with DAZ1 and DAZL.

    Alternative splice isoforms for BOLL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BOLL Gene

Proteomics data for BOLL Gene at MOPED

Post-translational modifications for BOLL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BOLL Gene

Domains for BOLL Gene

Gene Families for BOLL Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for BOLL Gene

Suggested Antigen Peptide Sequences for BOLL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N9W6

UniProtKB/Swiss-Prot:

BOLL_HUMAN
Domain:
  • Contains 1 DAZ-like domain.:
    • Q8N9W6
  • Contains 1 RRM (RNA recognition motif) domain.:
    • Q8N9W6
Family:
  • Belongs to the RRM DAZ family.:
    • Q8N9W6
genes like me logo Genes that share domains with BOLL: view

Function for BOLL Gene

Molecular function for BOLL Gene

UniProtKB/Swiss-Prot Function: Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3-UTR of mRNAs and regulating their translation (By similarity).

Gene Ontology (GO) - Molecular Function for BOLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 16001084
GO:0008494 translation activator activity IDA 16001084
genes like me logo Genes that share ontologies with BOLL: view
genes like me logo Genes that share phenotypes with BOLL: view

Animal Models for BOLL Gene

MGI Knock Outs for BOLL:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for BOLL Gene

Localization for BOLL Gene

Subcellular locations from UniProtKB/Swiss-Prot for BOLL Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BOLL Gene COMPARTMENTS Subcellular localization image for BOLL gene
Compartment Confidence
nucleus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for BOLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11390979
genes like me logo Genes that share ontologies with BOLL: view

Pathways for BOLL Gene

SuperPathways for BOLL Gene

No Data Available

Gene Ontology (GO) - Biological Process for BOLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007126 meiotic nuclear division IDA 12499397
GO:0007275 multicellular organismal development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0045948 positive regulation of translational initiation IDA 16001084
genes like me logo Genes that share ontologies with BOLL: view

No data available for Pathways by source for BOLL Gene

Transcripts for BOLL Gene

Unigene Clusters for BOLL Gene

Bol, boule-like (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BOLL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: - - -
SP3: - -

Relevant External Links for BOLL Gene

GeneLoc Exon Structure for
BOLL
ECgene alternative splicing isoforms for
BOLL

Expression for BOLL Gene

mRNA expression in normal human tissues for BOLL Gene

mRNA differential expression in normal tissues according to GTEx for BOLL Gene

This gene is overexpressed in Testis (47.6) and Muscle - Skeletal (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BOLL Gene

SOURCE GeneReport for Unigene cluster for BOLL Gene Hs.169797

mRNA Expression by UniProt/SwissProt for BOLL Gene

Q8N9W6-BOLL_HUMAN
Tissue specificity: Testis specific. Not expressed in early embryos, primordial germ cells and spermatogonial cells. First expressed in the cytoplasm of spermatocytes and then persists through meiosis.
genes like me logo Genes that share expressions with BOLL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for BOLL Gene

Orthologs for BOLL Gene

This gene was present in the common ancestor of animals.

Orthologs for BOLL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BOLL 35
  • 99.66 (n)
  • 99.66 (a)
BOLL 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BOLL 35
  • 93.9 (n)
  • 94.24 (a)
BOLL 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BOLL 35
  • 94.91 (n)
  • 94.79 (a)
BOLL 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Boll 35
  • 91.09 (n)
  • 92.01 (a)
Boll 16
Boll 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BOLL 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BOLL 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911373 35
  • 90.86 (n)
  • 92.01 (a)
chicken
(Gallus gallus)
Aves BOLL 35
  • 78.25 (n)
  • 74.74 (a)
lizard
(Anolis carolinensis)
Reptilia BOLL 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bol 36
  • 36 (a)
OneToMany
bol 37
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea daz-1 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for BOLL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for BOLL Gene

ENSEMBL:
Gene Tree for BOLL (if available)
TreeFam:
Gene Tree for BOLL (if available)

Paralogs for BOLL Gene

Paralogs for BOLL Gene

genes like me logo Genes that share paralogs with BOLL: view

Variants for BOLL Gene

Sequence variations from dbSNP and Humsavar for BOLL Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs700641 -- 197,734,509(-) catac(A/G)tgtgc intron-variant
rs700642 -- 197,736,006(-) GTTCG(A/C)TGGTC intron-variant
rs700643 -- 197,736,646(-) CCAAA(C/T)GTCCT intron-variant
rs700644 -- 197,740,520(-) TAATC(C/T)AGTTA intron-variant
rs700645 -- 197,740,790(-) cctca(C/T)cccaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BOLL Gene

Variant ID Type Subtype PubMed ID
nsv834506 CNV Gain 17160897
nsv516368 CNV Loss 19592680
nsv875698 CNV Gain 21882294
nsv460016 CNV Gain 19166990

Relevant External Links for BOLL Gene

HapMap Linkage Disequilibrium report
BOLL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BOLL Gene

Disorders for BOLL Gene

(2) MalaCards Diseases for BOLL Gene

Search for BOLL Gene in MalaCards »

(1) University of Copenhagen DISEASES for BOLL Gene

(4) Novoseek inferred disease relationships for BOLL Gene

Disease -log(P) Hits PubMed IDs
azoospermia 87.5 9
infertility male 77.2 6
sterility male 58.7 1
oligozoospermia 56.6 1

Relevant External Links for BOLL

Genetic Association Database (GAD)
BOLL
Human Genome Epidemiology (HuGE) Navigator
BOLL
genes like me logo Genes that share disorders with BOLL: view

No data available for UniProtKB/Swiss-Prot for BOLL Gene

Publications for BOLL Gene

  1. Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men. (PMID: 17114206) Kostova E. … Gromoll J. (Mol. Hum. Reprod. 2007) 3 4 23
  2. A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. (PMID: 11390979) Xu E.Y. … Reijo Pera R.A. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4
  3. Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation. (PMID: 19865085) Kee K. … Reijo Pera R.A. (Nature 2009) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population. (PMID: 15379971) Lepretre A.C. … Bienvenu T. (Int. J. Androl. 2004) 3 48

Products for BOLL Gene

Sources for BOLL Gene

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