CHMP1A - charged multivesicular body protein 1A Gene

中文名称：带电多泡体蛋白 1A

种属: Homo sapiens

同用名: PCH8; CHMP1; PRSM1; PCOLN3; VPS46A; VPS46-1

基因 ID: 5119 | 基因类型: protein coding

关于 CHMP1A

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,644,435-89,657,708 (from NCBI)

This gene has 26 transcripts (splice variants), 185 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in small intestine (RPKM 17.5), colon (RPKM 16.9) and 25 other tissues.

功能概要

该基因编码 CHMP/Chmp 蛋白质家族的成员，该蛋白质参与将蛋白质分选到溶酶体内部的多泡体。对该基因编码的蛋白质序列的初步预测表明，编码的蛋白质是一种金属肽酶。最近更新了命名法以反映这种编码蛋白质的正确生物学功能。已发现该基因编码不同亚型的几种转录本。[RefSeq 提供，2012 年 12 月]

This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

CHMP1A 基因产物(2)

mRNA	Protein	Name
NM_001083314.4	NP_001076783.1	charged multivesicular body protein 1a isoform 1
NM_002768.5	NP_002759.2	charged multivesicular body protein 1a 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 identical protein binding	IPI IPI: 通过物理相互作用推断	16730941	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11559748	GOA
enables protein domain specific binding	IPI IPI: 通过物理相互作用推断	17928862	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	14505570	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in autophagosome maturation	IMP IMP: 通过突变表型推断	17984323	GOA
involved in autophagy	IMP IMP: 通过突变表型推断	17984323	GOA
involved in cell division	IMP IMP: 通过突变表型推断	19129479	GOA
involved in late endosome to lysosome transport	IMP IMP: 通过突变表型推断	17984323	GOA
involved in midbody abscission	IMP IMP: 通过突变表型推断	20616062	GOA
acts upstream of or within mitotic chromosome condensation	IDA IDA: 通过直接分析推断	11559747	GOA
involved in mitotic metaphase chromosome alignment	IMP IMP: 通过突变表型推断	20616062	GOA
involved in multivesicular body sorting pathway	IDA IDA: 通过直接分析推断	16554368	GOA
acts upstream of or within negative regulation of gene expression	IDA IDA: 通过直接分析推断	11559747	GOA
involved in nuclear membrane reassembly	IMP IMP: 通过突变表型推断	26040713	GOA
involved in nucleus organization	IMP IMP: 通过突变表型推断	20616062	GOA
involved in plasma membrane repair	IDA IDA: 通过直接分析推断	24482116	GOA
involved in regulation of centrosome duplication	IMP IMP: 通过突变表型推断	20616062	GOA
involved in regulation of mitotic spindle assembly	IMP IMP: 通过突变表型推断	20616062	GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IDA IDA: 通过直接分析推断	17984323	GOA
involved in vesicle-mediated transport	IDA IDA: 通过直接分析推断	11559748	GOA
involved in viral budding from plasma membrane	IDA IDA: 通过直接分析推断	24878737	GOA
involved in viral budding via host ESCRT complex	IDA IDA: 通过直接分析推断	24878737	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in amphisome membrane	IDA IDA: 通过直接分析推断	17984323	GOA
located in autophagosome membrane	IDA IDA: 通过直接分析推断	17984323	GOA
located in condensed nuclear chromosome	IDA IDA: 通过直接分析推断	11559747	GOA
located in early endosome	IDA IDA: 通过直接分析推断	11559748	GOA
located in endomembrane system	IDA IDA: 通过直接分析推断	11559748	GOA
located in kinetochore	IDA IDA: 通过直接分析推断	26040712	GOA
located in kinetochore microtubule	IDA IDA: 通过直接分析推断	26040712	GOA
located in lysosomal membrane	IDA IDA: 通过直接分析推断	17984323	GOA
located in microtubule organizing center	IDA IDA: 通过直接分析推断	11559748	GOA
located in midbody	IDA IDA: 通过直接分析推断	26040712	GOA
located in multivesicular body membrane	IDA IDA: 通过直接分析推断	16554368	GOA
located in nuclear matrix	IDA IDA: 通过直接分析推断	11559747	GOA
part of nuclear pore	IDA IDA: 通过直接分析推断	26040713	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	24878737	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

CHMP1A 蛋白结构

Snf7

0
100
196 a.a.

蛋白主名

其他名称

charged multivesicular body protein 1a

charged multivesicular body protein 1/chromatin modifying protein 1

CHMP1A 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	CHMP1A	Q9HD42	USP8	Homo sapiens	P40818	Anti Tag CoIP	17711858
Intra	CHMP1A	Q9HD42	STAMBP	Homo sapiens	O95630	Y2H	21988832
Intra	CHMP1A	Q9HD42	STAMBP	Homo sapiens	O95630	Y2H	16730941
Intra	CHMP1A	Q9HD42	VTA1	Homo sapiens	Q9NP79	Anti Tag CoIP	33961781
Intra	CHMP1A	Q9HD42	CHMP1A	Homo sapiens	Q9HD42	Y2H Prey Pooling	32296183
Intra	CHMP1A	Q9HD42	VTA1	Homo sapiens	Q9NP79	Validated Y2H	32296183
Intra	CHMP1A	Q9HD42	CHMP1A	Homo sapiens	Q9HD42	Y2H	16730941
Intra	CHMP1A	Q9HD42	VPS4A	Homo sapiens	Q9UN37	Y2H	16730941
Intra	CHMP1A	Q9HD42	VTA1	Homo sapiens	Q9NP79	Y2H Array	32296183
Intra	CHMP1A	Q9HD42	VTA1	Homo sapiens	Q9NP79	Y2H Prey Pooling	32296183
Intra	CHMP1A	Q9HD42	CHMP1A	Homo sapiens	Q9HD42	Validated Y2H	32296183
Intra	CHMP1A	Q9HD42	CHMP1A	Homo sapiens	Q9HD42	Y2H Array	32296183
Intra	CHMP1A	Q9HD42	CHMP1B	Homo sapiens	Q7LBR1	Y2H	16730941
Intra	CHMP1A	Q9HD42	MITD1	Homo sapiens	Q8WV92	Y2H Array	32296183
Intra	CHMP1A	Q9HD42	MITD1	Homo sapiens	Q8WV92	Y2H Prey Pooling	32296183
Intra	CHMP1A	Q9HD42	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	CHMP1A	Q9HD42	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	CHMP1A	Q9HD42	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	CHMP1A	Q9HD42	C14orf119	Homo sapiens	Q9NWQ9	Validated Y2H	32296183
Intra	CHMP1A	Q9HD42	GORASP2	Homo sapiens	Q9H8Y8	Y2H Prey Pooling	32296183
Intra	CHMP1A	Q9HD42	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	32296183
Intra	CHMP1A	Q9HD42	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	CHMP1A	Q9HD42	DDIT4L	Homo sapiens	Q96D03	Y2H Array	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

Pontocerebellar Hypoplasia, Type 8

Pontocerebellar Hypoplasia Type 8	PCH8
Pontocerebellar Hypoplasia Due To Chmp1a Mutation	Pontocerebellar Hypoplasia 8
Hypoplasia, Pontocerebellar, Type 8

Pontocerebellar Hypoplasia, Type 1a

Pontocerebellar Hypoplasia Type 1a	PCH1A
Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy	Pontocerebellar Hypoplasia With Anterior Horn Cell Disease
Pch1	Pontocerebellar Hypoplasia 1a
Hypoplasia, Pontocerebellar, Type 1a	Pontocerebellar Hypoplasia Type 1

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Pontocerebellar Hypoplasia, Type 2f

PCH2F	Pontocerebellar Hypoplasia Type 2f
Pontocerebellar Hypoplasia 2f	Doid:0112329
Hypoplasia, Pontocerebellar, Type 2f

Pontocerebellar Hypoplasia, Type 11

PCH11	Pontocerebellar Hypoplasia Type 11
Pontocerebellar Hypoplasia Due To Tbc1d23	Pontocerebellar Hypoplasia 11
Doid:0112324

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1	PCH1E
Norman Disease	Pch1
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease	Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
Pontocerebellar Hypoplasia Type 1e	Pontocerebellar Hypoplasia 1e
Doid:0112322	Doid:0112330

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS02638	CHMP1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	CHMP1A	VGNC	VGNC:27299
Rattus norvegicus	CHMP1A	RGD	RGD:1311083
Mus musculus	CHMP1A	MGD	MGI:1920159
Felis catus	CHMP1A	VGNC	VGNC:68731
Macaca mulatta	CHMP1A	VGNC	VGNC:71159
Canis familiaris	CHMP1A	VGNC	VGNC:39221

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CHMP1A - charged multivesicular body protein 1A Gene

关于 CHMP1A

功能概要

CHMP1A 基因产物(2)

CHMP1A 蛋白结构

CHMP1A 蛋白互作信息

关联疾病

直系同源

热门区域

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CHMP1A - charged multivesicular body protein 1A Gene

关于 CHMP1A

功能概要

CHMP1A 基因产物(2)

CHMP1A 蛋白结构

CHMP1A 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z