BOLL

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

AliasesBOLL, BOULE, boule homolog, RNA binding protein
End197,786,762 bp[1]
Quick facts Identifiers, Aliases ...
BOLL
Identifiers
AliasesBOLL, BOULE, boule homolog, RNA binding protein
External IDsOMIM: 606165; MGI: 1922638; HomoloGene: 33650; GeneCards: BOLL; OMA:BOLL - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 1: 55.29 – 55.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Close

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]

References

Further reading

Related Articles

Wikiwand AI