• Gene id: 66037

Gene Summary

• Gene Symbol: BOLL   Gene   UCSC   Ensembl
• Aliases: BOULE
• Gene name: boule homolog, RNA binding protein
• Alternate names: protein boule-like, bol, boule-like, boule-like RNA binding protein,
• Gene location: 2q33.1 (197786311: 197726878)     Exons: 16     NC_000002.12
• Gene summary(Entrez): 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-l
• OMIM: 606165

Protein Summary

• Protein general information: Q8N9W6  
  • Name: Protein boule like
  • Length: 283  
  • Mass: 31,301
• Sequence:

  MQTDSLSPSPNPVSPVPLNNPTSAPRYGTVIPNRIFVGGIDFKTNESDLRKFFSQYGSVKEVKIVNDRAGVSKGY
  GFVTFETQEDAQKILQEAEKLNYKDKKLNIGPAIRKQQVGIPRSSIMPAAGTMYLTTSTGYPYTYHNGVAYFHTP
  EVTSVPPPWPSRSVCSSPVMVAQPIYQQPAYHYQATTQYLPGQWQWSVPQPSASSAPFLYLQPSEVIYQPVEIAQ
  DGGCVPPPLSLMETSVPEPYSDHGVQATYHQVYAPSAITMPAPVMQPEPIKTVWSIHY

• Structural information:
  • Protein Domains: RRM. (33-110)
    DAZ-like. (164-194)
  • Interpro: IPR037366  IPR012677  IPR035979  IPR000504  
  • Prosite: PS50102
  • STRING: ENSP00000314792
• Other Databases: GeneCards:  BOLL  Malacards:  BOLL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0007126	meiotic nuclear division	IDA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008494	translation activator activity	IDA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0045948	positive regulation of translational initiation	IDA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0007126	meiotic nuclear division	IDA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008494	translation activator activity	IDA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0045948	positive regulation of translational initiation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0007126	meiotic nuclear division	IDA	biological process
GO:0008494	translation activator activity	IDA	molecular function
GO:0045948	positive regulation of translational initiation	IDA	biological process

Diseases

Associated diseases	References
Intracranial aneurysm	GAD: 18997786
Intracranial aneurysm	GAD: 18997786
Oligozoospermia	GAD: 15705409
Azoospermia	MIK: 15591084
Male factor infertility	MIK: 19417033
Non obstructive azoospermia	MIK: 15379971
Spermatogenesis defects	MIK: 15705409
Spermatogenesis defects	MIK: 17114206
Azoospermia	GAD: 15379971
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 15591084
Spermatogenic defects	MIK: 15705409
Male infertility	MIK: 19417033
Non-obstructive azoospermia	MIK: 15379971
Hypospermatogenesis	MIK: 28342926
Sertoli cell-only syndrome (SCOS)	MIK: 28963840
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15591084	Azoospermia, spermatogenic failure			41 azoospermic patients	Male infertility
19417033	Male infertility			32 infertile men	Male infertility	BOLL CDC25A
19342699	Male infertility	DAZL haplotypes from 4 variations, including T12A, and of BOULE haplotypes	Chinese Han	214 (157 azoo-/oligzoospermic men, 57 normozoospermic men)	Male infertility	DAZL BOULE
17114206	Spermatogenic failure, Male infertility				Male infertility	BOULE
15705409	Impaired spermatogenesis			156 men with azoospermia or severe oligozoospermia	Male infertility	BOULE
15379971	Non-obstructive azoospermia	BOULE (Q2E)		40 infertile men with non-obstructive azoospermia or severe oligoasthenoteratozoospermia	Male infertility	BOULE
28963840	Sertoli cell-only syndrome (SCOS), Male infertility	Methylation		27 (12 men with obstructive azoospermia (the control group), 15 cases of SCOS, all without varicocele, cryptorchidism, or infectious disease)	Male infertility
25726377	Role in spermatogenesis				Male infertility
28342926	Nonobstructive azoospermia and hypospermatogenesis			100 patients with nonobstructive azoospermia and HS and 8 patients with obstructive azoospermia and normal spermatogenesis	Male infertility	NGS (CpG methylation)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray