BOLL - boule homolog, RNA binding protein Gene

Also Known as BOULE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 66037

About BOLL

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:197,726,890-197,786,206 (from NCBI)

This gene has 9 transcripts (splice variants), 187 orthologues and 5 paralogues. Restricted expression toward testis (RPKM 22.5).

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]

BOLL Products (5)

mRNA	Protein	Name
NM_001284358.2	NP_001271287.1	protein boule-like isoform 3
NM_001284361.2	NP_001271290.1	protein boule-like isoform 4
NM_001284362.2	NP_001271291.1	protein boule-like isoform 5
NM_033030.6	NP_149019.1	protein boule-like isoform 2
NM_197970.3	NP_932074.1	protein boule-like isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	15806553	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15806553	GOA
enables translation activator activity	IDA IDA: Inferred from direct assay	16001084	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within meiotic cell cycle	IDA IDA: Inferred from direct assay	12499397	GOA
involved in positive regulation of translational initiation	IDA IDA: Inferred from direct assay	16001084	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11390979	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BOLL Protein Structure

RRM_1

0
100
200
283 a.a.

Protein Preferred Names	Protein Names
protein boule-like	bol, boule-like

BOLL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	BOLL	Q8N9W6	NPBWR2	Homo sapiens	P48146	Validated Y2H	25416956
Intra	BOLL	Q8N9W6	NPBWR2	Homo sapiens	P48146	Y2H Array	25416956
Intra	BOLL	Q8N9W6	PUM2	Homo sapiens	Q8TB72	Y2H	15806553
Intra	BOLL	Q8N9W6	PUM2	Homo sapiens	Q8TB72	Affinity Chrom	15806553
Intra	BOLL	Q8N9W6	TFG	Homo sapiens	Q92734	Validated Y2H	25416956
Intra	BOLL	Q8N9W6	TFG	Homo sapiens	Q92734	Anti Tag CoIP	25416956
Intra	BOLL	Q8N9W6	HNRNPLL	Homo sapiens	Q8WVV9	Validated Y2H	25416956
Intra	BOLL	Q8N9W6	HNRNPLL	Homo sapiens	Q8WVV9	Y2H Prey Pooling	25416956
Intra	BOLL	Q8N9W6	RBPMS	Homo sapiens	Q93062	Validated Y2H	25416956
Intra	BOLL	Q8N9W6	RBPMS	Homo sapiens	Q93062	Y2H Prey Pooling	25416956
Intra	BOLL	Q8N9W6	ZNF385C	Homo sapiens	Q66K41	Validated Y2H	25416956
Intra	BOLL	Q8N9W6	ZNF385C	Homo sapiens	Q66K41	Lumier	32814053
Intra	BOLL	Q8N9W6	C1orf94	Homo sapiens	Q6P1W5	Y2H Array	25416956
Intra	BOLL	Q8N9W6	a0a024r5s0_human	Homo sapiens	EBI-10188461	Y2H Prey Pooling	25416956
Intra	BOLL	Q8N9W6	a0a024r5s0_human	Homo sapiens	EBI-10188461	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Fibroepithelial Polyp Of Urethra	Urethral Fibroepithelial Polyp Urethra Fibroepithelial Polyp
Urethral Syndrome	Urethral Disease Urethral Diseases Urethra Disease Abnormality Of The Urethra Urethral Disorders
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Urethral Stricture	Ankylurethria Urethral Stenosis Urethral Contracture Urethral Obstruction Meatal Stenosis Nos Constriction Of Urethra Contraction Of Urethra Stricture Of Urinary Meatus Urethral Obliteration Urethral Narrowing Pinpoint Meatus Pinhole Meatus Nos Urethral Occlusion
Balanitis Xerotica Obliterans	Penile Lichen Sclerosus Penile Leukoplakia
Vulvar Dystrophy	Dystrophy Of Vulva
Dracunculiasis	Guinea Worm Disease Dracontiasis Dracunculosis Infection By Dracunculus Medinensis Gwd Guinea Worm Infection Parasitic Infection Caused By Dracunculus Medinensis Medina Worm Disease Medinensis Medina Worm Infestation Dracunculus Medinensis Infestation Guinea Worm Infestation
Urethral Diverticulum	Urethral Sacculation
Spermatogenic Failure, X-Linked, 1	Sertoli Cell-Only Syndrome Germinal Cell Aplasia Del Castillo Syndrome SPGFX1 X-Linked Spermatogenic Failure 1 Congenital Absence Of Germinal Epithelium Of Testes
Spermatogenic Failure, Y-Linked, 2	SPGFY2 Spermatogenic Failure, Nonobstructive, Y-Linked Y-Linked Spermatogenic Failure 2 Azoospermia, Nonobstructive, Y-Linked Oligozoospermia, Nonobstructive, Y-Linked Oligospermia, Nonobstructive, Y-Linked Spermatogenic Arrest, Y-Linked Nonobstructive Y-Linked Spermatogenic Failure Spermatogenic Failure Y-Linked 2 Azoospermia Non-Obstructive Y-Linked Non-Obstructive Azoospermia And Infertility Oligospermia Non-Obstructive Y-Linked Oligozoospermia Non-Obstructive Y-Linked Spermatogenic Arrest Y-Linked Spermatogenic Failure Nonobstructive Y-Linked
Oligospermia
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	Icf Syndrome Immunodeficiency Syndrome, Variable Ciid Centromeric Instability, Immunodeficiency Syndrome Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Icf

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-118322	Bayer 30468		/	Unkown
HY-RS01575	BOLL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BOLL	VGNC	VGNC:38497
Rattus norvegicus	BOLL	RGD	RGD:1559527
Felis catus	BOLL	VGNC	VGNC:60148
Bos taurus	BOLL	VGNC	VGNC:26539
Macaca mulatta	BOLL	VGNC	VGNC:70310
Mus musculus	BOLL	MGD	MGI:1922638
Others	BOLL	NCBI