BOLA3 - bolA family member 3 Gene

中文名称：bolA 家族成员 3

种属: Homo sapiens

同用名: MMDS2

基因 ID: 388962 | 基因类型: protein coding

关于 BOLA3

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,135,400-74,147,912 (from NCBI)

This gene has 5 transcripts (splice variants), 198 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 17.0), heart (RPKM 15.5) and 25 other tissues.

功能概要

该基因编码的蛋白质在铁硫 (Fe-S) 簇的产生中起着重要作用，该簇用于含硫辛酸的 2-含氧酸脱氢酶的正常成熟，以及线粒体呼吸链复合物的组装。该基因的突变与多种线粒体功能障碍综合征 2 有关。已经报道了该基因 (PMID:21944046) 编码具有不同亚细胞定位的不同亚型的两种可变剪接转录物变体。[RefSeq 提供，2011 年 12 月]

This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]

BOLA3 基因产物(2)

mRNA	Protein	Name
NM_001035505.2	NP_001030582.1	bolA-like protein 3 isoform 2
NM_212552.3	NP_997717.2	bolA-like protein 3 isoform 1

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	27499296	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of iron-sulfur cluster assembly complex	IPI IPI: 通过物理相互作用推断	27532772	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	22746225	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

BOLA3 蛋白结构

BolA

0
100
107 a.a.

蛋白主名

其他名称

bolA-like protein 3

bolA homolog 3

BOLA3 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
种属内	BOLA3	Q53S33	MAGEA6	Homo sapiens	P43360	Y2H Prey Pooling	32296183
种属内	BOLA3	Q53S33	MAGEA6	Homo sapiens	P43360	Y2H Array	32296183
种属内	BOLA3	Q53S33	KRT34	Homo sapiens	O76011	Y2H Prey Pooling	32296183
种属内	BOLA3	Q53S33	KRT34	Homo sapiens	O76011	Y2H Array	32296183
种属内	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	Y2H Prey Pooling	32296183
种属内	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	CD	34063696
种属内	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	Anti Tag CoIP	27499296
种属内	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	FPS	34063696
种属内	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	NMR	34063696
种属内	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	UV-VIS	34063696
种属内	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	Validated Y2H	32296183
种属内	BOLA3	Q53S33	GLRX5	Homo sapiens	Q86SX6	Y2H Array	32296183
种属内	BOLA3	Q53S33	FAAP100	Homo sapiens	Q0VG06	Anti Tag CoIP	33961781
种属内	BOLA3	Q53S33	Q86SX6-PRO_0000141650	Homo sapiens	Q86SX6-PRO_0000141650	NMR	27532772
种属内	BOLA3	Q53S33	Q86SX6-PRO_0000141650	Homo sapiens	Q86SX6-PRO_0000141650	CD	27532772
种属内	BOLA3	Q53S33	GLRX3	Homo sapiens	O76003	Y2H Prey Pooling	32296183
种属内	BOLA3	Q53S33	GLRX3	Homo sapiens	O76003	Y2H Array	32296183
种属内	BOLA3	Q53S33	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
种属内	BOLA3	Q53S33	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
种属内	BOLA3	Q53S33	RAB17	Homo sapiens	Q9H0T7	Validated Y2H	32296183
种属内	BOLA3	Q53S33	RAB17	Homo sapiens	Q9H0T7	Y2H Array	32296183
种属内	BOLA3	Q53S33	RAB17	Homo sapiens	Q9H0T7	Y2H Prey Pooling	32296183
种属内	BOLA3	Q53S33	NFU1	Homo sapiens	Q9UMS0	MST	27532772
种属内	BOLA3	Q53S33	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
种属内	BOLA3	Q53S33	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183
种属内	BOLA3	Q53S33	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183

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

Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia

Multiple Mitochondrial Dysfunctions Syndrome 2	MMDS2
Bola3 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 2
Mitochondrial Dysfunctions Syndrome, Multiple, Type 2

Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome	Fatal Multiple Mitochondrial Dysfunction Syndrome
Mmds	Multiple Mitochondrial Dysfunction Syndrome
Mitochondrial Dysfunctions, Multiple, Syndrome	Multiple Mitochondrial Dysfunctions Syndrome 1

Multiple Mitochondrial Dysfunctions Syndrome 1

MMDS1	Mmds
Nfu1 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 1
Mitochondrial Dysfunctions Syndrome, Multiple, Type 1

Pulmonary Hypertension

Primary Pulmonary Hypertension	Hypertension Pulmonary
Hypertension, Pulmonary	Hypertension, Pulmonary, Primary
Idiopathic Pulmonary Hypertension	Idiopathic Pulmonary Arterial Hypertension
Pulmonary Htn - [Hypertension]

Multiple Mitochondrial Dysfunctions Syndrome 4

MMDS4	Multiple Mitochondrial Dysfunctions Syndrome Type 4
Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4

Multiple Mitochondrial Dysfunctions Syndrome 3

MMDS3	Iba57 Deficiency
Multiple Mitochondrial Dysfunctions Syndrome Type 3	Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Combined Oxidative Phosphorylation Deficiency 19

COXPD19	Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency
Combined Oxidative Phosphorylation Deficiency, Type 19

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

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-RS01574	BOLA3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	BOLA3	VGNC	VGNC:80035
Rattus norvegicus	BOLA3	RGD	RGD:1305975
Bos taurus	BOLA3	VGNC	VGNC:50093
Mus musculus	BOLA3	MGD	MGI:1925903
Macaca mulatta	BOLA3	VGNC	VGNC:106133
Canis familiaris	BOLA3	VGNC	VGNC:54924

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

BOLA3 - bolA family member 3 Gene

关于 BOLA3

功能概要

BOLA3 基因产物(2)

BOLA3 蛋白结构

BOLA3 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

BOLA3 - bolA family member 3 Gene

关于 BOLA3

功能概要

BOLA3 基因产物(2)

BOLA3 蛋白结构

BOLA3 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z