SMCR8 - SMCR8-C9orf72 complex subunit Gene

中文名称：SMCR8-C9orf72 复合亚基

种属: Homo sapiens

同用名: DENND8A

基因 ID: 140775 | 基因类型: protein coding

关于 SMCR8

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:18,315,293-18,328,056 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele and 199 orthologues. Ubiquitous expression in bone marrow (RPKM 10.7), spleen (RPKM 8.2) and 25 other tissues.

功能概要

启用蛋白激酶结合活性和蛋白激酶抑制剂活性。有助于胍基核苷酸交换因子活性。参与大分子代谢过程的负调控； TOR 信号的调节；和巨自噬的调节。位于染色质；细胞质；和核质。部分胍基核苷酸交换因子复合物。与 Atg1/ULK1 激酶复合物共定位。 [由基因组资源联盟提供，2022 年 4 月]

Enables protein kinase binding activity and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of macromolecule metabolic process; regulation of TOR signaling; and regulation of macroautophagy. Located in chromatin; cytoplasm; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. Colocalizes with Atg1/ULK1 kinase complex. [provided by Alliance of Genome Resources, Apr 2022]

SMCR8 基因产物(1)

mRNA	Protein	Name
NM_144775.3	NP_658988.2	guanine nucleotide exchange protein SMCR8

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 GTPase activator activity	IMP IMP: 通过突变表型推断	32303654	GOA
contributes to guanyl-nucleotide exchange factor activity	IDA IDA: 通过直接分析推断	27103069	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	27103069	GOA
enables protein kinase binding	IPI IPI: 通过物理相互作用推断	27103069	GOA
enables protein kinase inhibitor activity	IMP IMP: 通过突变表型推断	28195531	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of autophagosome assembly	IMP IMP: 通过突变表型推断	28195531	GOA
involved in negative regulation of gene expression	IMP IMP: 通过突变表型推断	28195531	GOA
involved in negative regulation of macroautophagy	IMP IMP: 通过突变表型推断	28195531	GOA
involved in positive regulation of TOR signaling	IMP IMP: 通过突变表型推断	28195531	GOA
involved in positive regulation of autophagosome maturation	IMP IMP: 通过突变表型推断	28195531	GOA
involved in regulation of TORC1 signaling	IMP IMP: 通过突变表型推断	27559131	GOA
involved in regulation of autophagy	IMP IMP: 通过突变表型推断	27103069	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Atg1/ULK1 kinase complex	IDA IDA: 通过直接分析推断	27193190	GOA
located in chromatin	IDA IDA: 通过直接分析推断	28195531	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	27193190	GOA
part of guanyl-nucleotide exchange factor complex	IDA IDA: 通过直接分析推断	27103069	GOA
part of guanyl-nucleotide exchange factor complex	IPI IPI: 通过物理相互作用推断	29950492	GOA
located in nucleoplasm	IDA IDA: 通过直接分析推断	28195531	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

SMCR8 蛋白结构

Folliculin

0
200
400
600
800
937 a.a.

蛋白主名

其他名称

guanine nucleotide exchange protein SMCR8

Smith-Magenis syndrome chromosome region, candidate 8

SMCR8 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	SMCR8	Q8TEV9	C9orf72	Homo sapiens	Q96LT7	Validated Y2H	32296183
Intra	SMCR8	Q8TEV9	C9orf72	Homo sapiens	Q96LT7	Validated Y2H	27107012

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

Smith-Magenis Syndrome

SMS	Chromosome 17p11.2 Deletion Syndrome
17p11.2 Microdeletion Syndrome	17p11.2 Monosomy
Chromosome 17p Deletion Syndrome	Del(17)
P11.2	17p- Syndrome
Deletion 17p Syndrome	Partial Monosomy 17p

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1	Frontotemporal Dementia And/Or Motor Neuron Disease
Ftdmnd	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
Alsftd	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1	Frontotemporal Dementia With Motor Neuron Disease
Ftdals	Ftd-Als
Ftd-Mnd	Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
Frontotemporal Lobar Degeneration	Grn-Related Frontotemporal Dementia

Birt-Hogg-Dube Syndrome

Hornstein-Knickenberg Syndrome	Fibrofolliculomas With Trichodiscomas And Acrochordons
BHD	Birt-Hogg-Dubé Syndrome
Multiple Fibrofolliculoma Familial	Bhd Syndrome
Birt Hogg Dube Syndrome	Hornstein-Birt-Hogg-Dubé Syndrome
Multiple Fibrofolliculomas

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS13428	SMCR8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	SMCR8	VGNC	VGNC:104654
Bos taurus	SMCR8	VGNC	VGNC:58472
Rattus norvegicus	SMCR8	RGD	RGD:1564621
Felis catus	SMCR8	VGNC	VGNC:65484
Mus musculus	SMCR8	MGD	MGI:2444720

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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）

SMCR8 - SMCR8-C9orf72 complex subunit Gene

关于 SMCR8

功能概要

SMCR8 基因产物(1)

SMCR8 蛋白结构

SMCR8 蛋白互作信息

关联疾病

直系同源

热门区域

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SMCR8 - SMCR8-C9orf72 complex subunit Gene

关于 SMCR8

功能概要

SMCR8 基因产物(1)

SMCR8 蛋白结构

SMCR8 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