1. Gene
  2. GEMIN4 - gem nuclear organelle associated protein 4 Gene

GEMIN4 - gem nuclear organelle associated protein 4 Gene

中文名称:宝石核细胞器相关蛋白 4

种属: Homo sapiens

同用名: p97; HC56; HCAP1; HHRF-1; NEDMCR

基因 ID: 50628 | 基因类型: protein coding

关于 GEMIN4

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:744,421-754,410 (from NCBI)

This gene has 7 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 20.3), skin (RPKM 9.4) and 23 other tissues.

功能概要

该基因的产物是定位于细胞质、核仁和称为双子体 (宝石) 的离散核体的大型复合体的一部分。该复合物在细胞质中的剪接体 snRNP 组装中发挥作用,并再生细胞核中 pre-mRNA 剪接所需的剪接体。编码的蛋白质直接与 DEAD 盒蛋白和几个剪接体核心蛋白相互作用。已经描述了选择性剪接的转录本变体,但尚未确定它们的生物学有效性。[RefSeq 提供,2008 年 7 月]

The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GEMIN4 基因产物(1)

mRNA Protein Name
NM_015721.3 NP_056536.2 gem-associated protein 4
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
11714716 GOA
enables ribonucleoprotein complex binding IDA
IDA: 通过直接分析推断
10725331 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
18984161 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Cajal body IDA
IDA: 通过直接分析推断
10725331 GOA
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-Sm protein complex IDA
IDA: 通过直接分析推断
18984161 GOA
located in cytosol IDA
IDA: 通过直接分析推断
18984161 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
10725331 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
蛋白主名 其他名称

gem-associated protein 4

HCC-associated protein 1

GEMIN4 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
种属内
GEMIN4 P57678 KRTAP9-2 Homo sapiens Q9BYQ4 32296183
种属内
GEMIN4 P57678 UFC1 Homo sapiens Q9Y3C8 32296183
种属内
GEMIN4 P57678 KRTAP13-2 Homo sapiens Q52LG2 32296183
种属内
GEMIN4 P57678 KRTAP13-4 Homo sapiens Q3LI77 32296183
种属内
GEMIN4 P57678 CDC20B Homo sapiens Q86Y33-5 32296183
种属内
GEMIN4 P57678 KRTAP15-1 Homo sapiens Q3LI76 32296183
种属内
GEMIN4 P57678 USP15 Homo sapiens Q9Y4E8-2 32296183
种属内
GEMIN4 P57678 CERCAM Homo sapiens Q5T4B2 32296183
种属内
GEMIN4 P57678 KRTAP2-4 Homo sapiens Q9BYR9 32296183
种属内
GEMIN4 P57678 KANK2 Homo sapiens Q63ZY3 32296183
种属内
GEMIN4 P57678 ZNF326 Homo sapiens Q5BKZ1 32296183
种属内
GEMIN4 P57678 DDX20 Homo sapiens Q9UHI6 32296183
种属内
GEMIN4 P57678 DDX20 Homo sapiens Q9UHI6 23752268
种属内
GEMIN4 P57678 SPRY1 Homo sapiens O43609
Y2H
21988832
种属内
GEMIN4 P57678 FBXL12 Homo sapiens Q9NXK8 32296183
种属内
GEMIN4 P57678 CCDC185 Homo sapiens Q8N715 32296183
种属内
GEMIN4 P57678 SPG21 Homo sapiens Q9NZD8 32296183
种属内
GEMIN4 P57678 TAP1 Homo sapiens Q03518 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
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities

NEDMCR

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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]

Quadriplegia

Tetraplegia

Tetraplegias

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Gastroesophageal Reflux

Gastroesophageal Reflux Disease

Gerd

GER

Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris GEMIN4 VGNC VGNC:41174
Rattus norvegicus GEMIN4 RGD RGD:1563715
Macaca mulatta GEMIN4 VGNC VGNC:72723
Mus musculus GEMIN4 MGD MGI:2449313
Felis catus GEMIN4 VGNC VGNC:62514
Bos taurus GEMIN4 VGNC VGNC:29317