BOLL - boule homolog, RNA binding protein Gene

Homo sapiens

Also known as BOULE

Gene ID: 66037 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01575	BOLL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-118322	Bayer 30468	Inhibitor	/	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

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