Homo sapiens Gene: BOLL
Summary
InnateDB Gene IDBG-78064.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BOLL
Gene Name bol, boule-like (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000152430
Encoded Proteins
bol, boule-like (Drosophila)
bol, boule-like (Drosophila)
bol, boule-like (Drosophila)
bol, boule-like (Drosophila)
bol, boule-like (Drosophila)
bol, boule-like (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:197726879-197786762
Strand Reverse strand
Band q33.1
Transcripts
ENST00000321801 ENSP00000314792
ENST00000282278 ENSP00000282278
ENST00000392296 ENSP00000376116
ENST00000430004 ENSP00000397711
ENST00000434976 ENSP00000416911
ENST00000433157 ENSP00000396099
ENST00000468827
ENST00000486206
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008494 translation activator activity
Biological Process
GO:0007126 meiotic nuclear division
GO:0007275 multicellular organismal development
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
GO:0045948 positive regulation of translational initiation
Cellular Component
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.169797 Hs.692026
RefSeq NM_001284358 NM_001284361 NM_001284362 NM_033030 NM_197970
HUGO
OMIM
CCDS CCDS2324 CCDS2325 CCDS63081
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas