BOLL

For other uses, see Boll (disambiguation).

Protein boule-like is a protein that in humans is encoded by the BOLL gene.^[5][6][7]

BOLL
Identifiers
Aliases	BOLL, BOULE, boule homolog, RNA binding protein
External IDs	OMIM: 606165; MGI: 1922638; HomoloGene: 33650; GeneCards: BOLL; OMA:BOLL - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q33.1 Start 197,726,879 bp[1] End 197,786,762 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 C1.2 Start 55,287,817 bp[2] End 55,402,628 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis sperm buccal mucosa cell testicle muscle of thigh tibialis anterior muscle gonad gastrocnemius muscle skeletal muscle tissue Top expressed in spermatocyte spermatid seminiferous tubule lumbar subsegment of spinal cord embryo embryo ganglion of neuraxis granulocyte morula thymus More reference expression data BioGPS n/a
Gene ontology Molecular function translation activator activity protein binding RNA binding nucleic acid binding mRNA 3'-UTR binding mRNA binding Cellular component cytoplasm Biological process multicellular organism development cell differentiation positive regulation of translational initiation regulation of translation spermatogenesis meiosis 3'-UTR-mediated mRNA stabilization germ cell development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 66037 75388 Ensembl ENSG00000152430 ENSMUSG00000025977 UniProt Q8N9W6 Q924M5 RefSeq (mRNA) NM_001284358 NM_001284361 NM_001284362 NM_033030 NM_197970 NM_001113367 NM_029267 NM_001367887 NM_001368767 NM_001368768 RefSeq (protein) NP_001271287 NP_001271290 NP_001271291 NP_149019 NP_932074 NP_001106838 NP_083543 NP_001354816 NP_001355696 NP_001355697 Location (UCSC) Chr 2: 197.73 – 197.79 Mb Chr 1: 55.29 – 55.4 Mb PubMed search [3] [4]
Wikidata
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Function

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 in fruitfly but in mice the primary defect is postmeiotic at round spermatid stage.^[8] Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.^[7][9]

The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax.^[10]