GEMIN5 - gem nuclear organelle associated protein 5 Gene

中文名称：宝石核细胞器相关蛋白 5

种属: Homo sapiens

同用名: NEDCAM; GEMIN-5

基因 ID: 25929 | 基因类型: protein coding

关于 GEMIN5

Cytogenetic location: 5q33.2 Genomic coordinates (GRCh38): 5:154,887,411-154,938,211 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 4.9), ovary (RPKM 4.6) and 25 other tissues.

功能概要

该基因编码一种 WD 重复蛋白，它是运动神经元 (SMN) 复合体存活的一个组成部分。 SMN 复合体通过拼接体小核核糖核蛋白 (snRNP) 的组装在 mRNA 剪接中发挥关键作用，并且还可能介导其他类别核糖核蛋白的组装和运输。编码的蛋白质是 SMN 复合体的 snRNA 结合成分。该基因的失调可能在选择性 mRNA 剪接和肿瘤细胞运动中发挥作用。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 11 月]

This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

GEMIN5 基因产物(2)

mRNA	Protein	Name
NM_001252156.2	NP_001239085.1	gem-associated protein 5 isoform 2
NM_015465.5	NP_056280.2	gem-associated protein 5 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 RNA 7-methylguanosine cap binding	IDA IDA: 通过直接分析推断	19750007	GOA
enables U1 snRNA binding	IDA IDA: 通过直接分析推断	19377484	GOA
enables U4 snRNA binding	IDA IDA: 通过直接分析推断	19377484	GOA
enables U4atac snRNA binding	IDA IDA: 通过直接分析推断	20513430	GOA
enables mRNA 3'-UTR binding	IDA IDA: 通过直接分析推断	25911097	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11714716	GOA
enables ribosome binding	IDA IDA: 通过直接分析推断	27507887	GOA
enables snRNA binding	IDA IDA: 通过直接分析推断	16857593	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of translation	IMP IMP: 通过突变表型推断	25911097	GOA
involved in spliceosomal snRNP assembly	EXP EXP: 通过实验结果推断	12067652	GOA
involved in spliceosomal snRNP assembly	IDA IDA: 通过直接分析推断	18984161	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of SMN complex	IDA IDA: 通过直接分析推断	17178713	GOA
part of SMN complex	IPI IPI: 通过物理相互作用推断	17178713	GOA
part of SMN-Gemin2 complex	IDA IDA: 通过直接分析推断	19377484	GOA
part of SMN-Sm protein complex	IDA IDA: 通过直接分析推断	18984161	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	11714716	GOA
located in cytosol	IDA IDA: 通过直接分析推断	18984161	GOA
located in nuclear body	IDA IDA: 通过直接分析推断	11714716	GOA
located in nucleoplasm	IDA IDA: 通过直接分析推断	11714716	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

GEMIN5 蛋白结构

WD40

0
300
600
900
1200
1508 a.a.

蛋白主名

其他名称

gem-associated protein 5

GEMIN5 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	GEMIN5	Q8TEQ6	SNRPE	Homo sapiens	P62304	Pull Down	11714716
Intra	GEMIN5	Q8TEQ6	SMN1	Homo sapiens	Q16637	Pull Down	11714716
Intra	GEMIN5	Q8TEQ6	SMN1	Homo sapiens	Q16637	Anti Bait CoIP	11714716
Intra	GEMIN5	Q8TEQ6	SMN1	Homo sapiens	Q16637	Anti Tag CoIP	11714716
Intra	GEMIN5	Q8TEQ6	EIF4E	Homo sapiens	P06730	Pull Down	16739988
Intra	GEMIN5	Q8TEQ6	EIF4E	Homo sapiens	P06730	IF	16739988
Intra	GEMIN5	Q8TEQ6	EIF4E	Homo sapiens	P06730	Affinity Chrom	16739988

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

Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction

NEDCAM

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy

Spinal Muscular Atrophy, Type Ii

SMA2	Sma Ii
Muscular Atrophy, Spinal, Intermediate Type	Muscular Atrophy, Spinal, Infantile Chronic Form
Intermediate Spinal Muscular Atrophy	Spinal Muscular Atrophy Type Ii
Spinal Muscular Atrophy-2	Spinal Muscular Atrophy 2
Spinal Muscular Atrophy Type 2	Dubowitz Disease
Proximal Spinal Muscular Atrophy Type 2	Sma Type 2
Sma Type Ii	Sma-Ii
Spinal Muscular Atrophy Infantile Chronic Form	Spinal Muscular Atrophy Intermediate Type
Spinal Muscular Atrophies Of Childhood	Atrophy, Muscular, Spinal, Type Ii
Muscular Atrophy, Spinal, Type Ii

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

Spinal Muscular Atrophy, Type Iii

SMA3	Juvenile Spinal Muscular Atrophy
Kugelberg-Welander Disease	Sma Iii
Kugelberg-Welander Syndrome	Kws
Muscular Atrophy, Juvenile	Spinal Muscular Atrophy, Mild Childhood And Adolescent Form
Spinal Muscular Atrophy-3	Spinal Muscular Atrophy Type 3
Spinal Muscular Atrophy, Type Iii, Modifier Of	Type Iii Spinal Muscular Atrophy
Sma 3	Proximal Spinal Muscular Atrophy Type 3
Sma Type 3	Sma Type Iii
Sma-Iii	Spinal Muscular Atrophy 3
Spinal Muscular Atrophy Mild Childhood And Adolescent Form	Spinal Muscular Atrophy Type Iii
Wohlfart-Kugelberg-Welander Disease	Atrophy, Muscular, Spinal, Type Iii

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-RS05369	GEMIN5 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	GEMIN5	VGNC	VGNC:29318
Mus musculus	GEMIN5	MGD	MGI:2449311
Rattus norvegicus	GEMIN5	RGD	RGD:1586275
Macaca mulatta	GEMIN5	VGNC	VGNC:72751
Canis familiaris	GEMIN5	VGNC	VGNC:41175
Felis catus	GEMIN5	VGNC	VGNC:62515

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站点地图隐私声明

沪ICP备15051369号-4

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）

GEMIN5 - gem nuclear organelle associated protein 5 Gene

关于 GEMIN5

功能概要

GEMIN5 基因产物(2)

GEMIN5 蛋白结构

GEMIN5 蛋白互作信息

关联疾病

直系同源

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GEMIN5 - gem nuclear organelle associated protein 5 Gene

关于 GEMIN5

功能概要

GEMIN5 基因产物(2)

GEMIN5 蛋白结构

GEMIN5 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