BOLL - boule homolog, RNA binding protein Gene

中文名称：boule 同系物，RNA 结合蛋白

种属: Homo sapiens

同用名: BOULE

基因 ID: 66037 | 基因类型: protein coding

关于 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).

功能概要

该基因属于生殖细胞发育所需的 DAZ 基因家族。它编码的 RNA 结合蛋白更类似于 Drosophila Boule 而不是由基因 DAZ (在无精子症中缺失) 或 DAZL (在无精子症样中缺失) 编码的人类蛋白质。这种基因功能的丧失会导致精液中没有精子 (无精子症) 。组织学研究表明主要缺陷是减数分裂 G2/M 转换。已经为该基因发现了编码不同亚型的两个可变剪接的转录物变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	15806553	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15806553	GOA
enables translation activator activity	IDA IDA: 通过直接分析推断	16001084	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within meiotic cell cycle	IDA IDA: 通过直接分析推断	12499397	GOA
involved in positive regulation of translational initiation	IDA IDA: 通过直接分析推断	16001084	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	11390979	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

BOLL 蛋白结构

RRM_1

0
100
200
283 a.a.

蛋白主名

其他名称

protein boule-like

bol, boule-like

BOLL 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01575	BOLL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-118322	Bayer 30468	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 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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