2. Gene
  3. GEMIN8 - gem nuclear organelle associated protein 8 Gene

GEMIN8 - gem nuclear organelle associated protein 8 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：宝石核细胞器相关蛋白 8

种属: Homo sapiens

同用名: FAM51A1

基因 ID: 54960 | 基因类型: protein coding

关于 GEMIN8

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:13,984,185-14,029,892 (from NCBI)

This gene has 6 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in ovary (RPKM 3.3), thyroid (RPKM 3.3) and 25 other tissues.

功能概要

由该基因编码的蛋白质是 SMN 复合体的一部分，它对于细胞质中的剪接体 snRNP 组装和细胞核中的 pre-mRNA 剪接是必需的。编码的蛋白质结合 SMN1 和 GEMIN6/GEMIN7 异二聚体，介导它们的相互作用。这种蛋白质存在于 Cajal 体 (宝石) 的核双子座和细胞质中。已发现该基因的三个转录变体编码相同的蛋白质。[RefSeq 提供，2010 年 5 月]

The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GEMIN8 基因产物(3)

mRNA Protein Name
NM_001042479.2 NP_001035944.1 gem-associated protein 8
NM_001042480.2 NP_001035945.1 gem-associated protein 8
NM_017856.3 NP_060326.1 gem-associated protein 8
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 protein binding IPI
IPI: 通过物理相互作用推断
17023415 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
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
16434402 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
16434402 GOA
part of SMN complex IPI
IPI: 通过物理相互作用推断
17178713 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
17023415 GOA
located in cytosol IDA
IDA: 通过直接分析推断
18984161 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16434402 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

GEMIN8 蛋白结构

GEMIN8

GEMIN8: Gemini of Cajal bodies-associated protein 8 (14 - 242)

  • 0
  • 100
  • 200
  • 242 a.a.
蛋白主名 其他名称

gem-associated protein 8

family with sequence similarity 51, member A1

关联疾病

疾病名称 别名
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]
Duodenal Obstruction
Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05371 GEMIN8 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus GEMIN8 VGNC VGNC:62517
Rattus norvegicus GEMIN8 RGD RGD:1359160
Canis familiaris GEMIN8 VGNC VGNC:41178
Bos taurus GEMIN8 VGNC VGNC:29321
Mus musculus GEMIN8 MGD MGI:2384300
Macaca mulatta GEMIN8 VGNC VGNC:103819
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