CHCHD3 - coiled-coil-helix-coiled-coil-helix domain containing 3 Gene

中文名称：含卷曲-卷曲-螺旋-卷曲-卷曲-螺旋结构域 3

种属: Homo sapiens

同用名: Mic19; MINOS3; MICOS19; PPP1R22

基因 ID: 54927 | 基因类型: protein coding

关于 CHCHD3

Cytogenetic location: 7q32.3-q33 Genomic coordinates (GRCh38): 7:132,784,870-133,082,090 (from NCBI)

This gene has 6 transcripts (splice variants), 255 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 24.9), duodenum (RPKM 14.8) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种线粒体内膜支架蛋白。编码蛋白的缺失会影响线粒体嵴的结构完整性，并导致 ATP 生成、细胞生长和耗氧量减少。这种蛋白质是线粒体接触部位和嵴组织系统 (MICOS) 的一部分。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2015 年 11 月]

The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

CHCHD3 基因产物(3)

mRNA	Protein	Name
NM_001317177.2	NP_001304106.1	MICOS complex subunit MIC19 isoform 1
NM_001317178.2	NP_001304107.1	MICOS complex subunit MIC19 isoform 3
NM_017812.4	NP_060282.1	MICOS complex subunit MIC19 isoform 2

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 phosphatase binding	IDA IDA: 通过直接分析推断	19389623	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cristae formation	IMP IMP: 通过突变表型推断	25781180	GOA
involved in inner mitochondrial membrane organization	IMP IMP: 通过突变表型推断	21081504	GOA
involved in mitochondrial fusion	IMP IMP: 通过突变表型推断	21081504	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of MICOS complex	IDA IDA: 通过直接分析推断	25781180	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	25781180	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

CHCHD3 蛋白结构

DUF737

0
100
200
227 a.a.

蛋白主名

其他名称

MICOS complex subunit MIC19

coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial

CHCHD3 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	CHCHD3	Q9NX63	KRT40	Homo sapiens	Q6A162	Y2H Prey Pooling	25416956
Intra	CHCHD3	Q9NX63	KRT40	Homo sapiens	Q6A162	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	PDE4DIP	Homo sapiens	Q5VU43	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	PDE4DIP	Homo sapiens	Q5VU43	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	SHANK3	Homo sapiens	Q9BYB0	Crosslink	30021884
Intra	CHCHD3	Q9NX63	SSX2IP	Homo sapiens	Q9Y2D8	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	SSX2IP	Homo sapiens	Q9Y2D8	Y2H Prey Pooling	25416956
Intra	CHCHD3	Q9NX63	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Prey Pooling	32296183
Intra	CHCHD3	Q9NX63	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Array	32296183
Intra	CHCHD3	Q9NX63	BLZF1	Homo sapiens	Q9H2G9	Y2H Array	32296183
Intra	CHCHD3	Q9NX63	BLZF1	Homo sapiens	Q9H2G9	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	BLZF1	Homo sapiens	Q9H2G9	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	BLZF1	Homo sapiens	Q9H2G9	Y2H Prey Pooling	32296183
Intra	CHCHD3	Q9NX63	CHCHD6	Homo sapiens	Q9BRQ6	Crosslink	30021884
Intra	CHCHD3	Q9NX63	CHCHD6	Homo sapiens	Q9BRQ6	Anti Tag CoIP	33961781
Intra	CHCHD3	Q9NX63	PPP1CA	Homo sapiens	P62136	Far-WB	19389623
Intra	CHCHD3	Q9NX63	PPP1CA	Homo sapiens	P62136	Pull Down	19389623
Intra	CHCHD3	Q9NX63	TRAF1	Homo sapiens	Q13077	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	TRAF1	Homo sapiens	Q13077	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	CHCHD3	Q9NX63	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	CHCHD3	Q9NX63	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	CHCHD3	Q9NX63	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	CHCHD3	Q9NX63	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	CHCHD3	Q9NX63	KAT5	Homo sapiens	Q92993	Y2H Array	32814053
Intra	CHCHD3	Q9NX63	KAT5	Homo sapiens	Q92993	Validated Y2H	32814053
Intra	CHCHD3	Q9NX63	KAT5	Homo sapiens	Q92993	Y2H Pooling	32814053
Intra	CHCHD3	Q9NX63	SPAG5	Homo sapiens	Q96R06	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	GOLGA2	Homo sapiens	Q08379	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	TRIM27	Homo sapiens	P14373	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	TRIM27	Homo sapiens	P14373	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	CHCHD3	Q9NX63	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	CHCHD3	Q9NX63	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	CHCHD3	Q9NX63	CEP72	Homo sapiens	Q9P209	Y2H Array	32296183
Intra	CHCHD3	Q9NX63	CEP72	Homo sapiens	Q9P209	Y2H Prey Pooling	32296183
Intra	CHCHD3	Q9NX63	CEP72	Homo sapiens	Q9P209	Validated Y2H	32296183
Intra	CHCHD3	Q9NX63	CALCOCO2	Homo sapiens	Q13137	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	CALCOCO2	Homo sapiens	Q13137	Y2H Prey Pooling	25416956
Intra	CHCHD3	Q9NX63	CCDC85B	Homo sapiens	Q15834	Pull Down	16189514
Intra	CHCHD3	Q9NX63	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
Intra	CHCHD3	Q9NX63	LZTS2	Homo sapiens	Q9BRK4	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	GMCL2	Homo sapiens	Q8NEA9	Validated Y2H	25416956
Intra	CHCHD3	Q9NX63	RAB3IP	Homo sapiens	Q96QF0	Y2H Prey Pooling	25416956
Intra	CHCHD3	Q9NX63	SAMM50	Homo sapiens	Q9Y512	Anti Tag CoIP	33961781
Intra	CHCHD3	Q9NX63	SAMM50	Homo sapiens	Q9Y512	Validated Y2H	32296183
Intra	CHCHD3	Q9NX63	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
Intra	CHCHD3	Q9NX63	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053
Intra	CHCHD3	Q9NX63	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053
Intra	CHCHD3	Q9NX63	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956
Intra	CHCHD3	Q9NX63	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	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

Combined Oxidative Phosphorylation Deficiency 37

COXPD37

Barth Syndrome

3-Methylglutaconic Aciduria Type 2	BTHS
Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria	Mga Type Ii
Mga2	Mgca2
Mga Type 2	3-Methylglutaconic Aciduria Type Ii
3-Methylglutaconic Aciduria, Type Ii	Mga, Type Ii
3-Methylglutaconicaciduria Type 2	3-Methylglutaconicaciduria Type Ii
Taz Defect	3 Methylglutaconic Aciduria, Type Ii
Dnajc19 Defect	Cardioskeletal Myopathy-Neutropenia Syndrome
X-Linked Cardioskeletal Myopathy And Neutropenia	3-Alpha-Methylglutaconic Aciduria Type 2
Agm2	Cardioskeletal Myopathy-Neutropenia
Invm	Left Ventricular Non-Compaction Isolated X-Linked
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked	Agammaglobulinemia 2, Autosomal Recessive

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-RS02600	CHCHD3 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	CHCHD3	VGNC	VGNC:60839
Mus musculus	CHCHD3	MGD	MGI:1913325
Canis familiaris	CHCHD3	VGNC	VGNC:39195
Bos taurus	CHCHD3	VGNC	VGNC:27272
Rattus norvegicus	CHCHD3	RGD	RGD:1310325
Macaca mulatta	CHCHD3	VGNC	VGNC:80860

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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）

CHCHD3 - coiled-coil-helix-coiled-coil-helix domain containing 3 Gene

关于 CHCHD3

功能概要

CHCHD3 基因产物(3)

CHCHD3 蛋白结构

CHCHD3 蛋白互作信息

关联疾病

直系同源

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CHCHD3 - coiled-coil-helix-coiled-coil-helix domain containing 3 Gene

关于 CHCHD3

功能概要

CHCHD3 基因产物(3)

CHCHD3 蛋白结构

CHCHD3 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