1. Gene
  2. GON7 - GON7 subunit of KEOPS complex Gene

GON7 - GON7 subunit of KEOPS complex Gene

中文名称:KEOPS 复合体的 GON7 亚基

种属: Homo sapiens

同用名: PNAS-127; C14orf142

基因 ID: 84520 | 基因类型: protein coding

关于 GON7

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:93,202,894-93,207,065 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 95 orthologues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 9.4), kidney (RPKM 8.3) and 25 other tissues.

功能概要

位于胞质溶胶中;核仁;和核质。 EKC/KEOPS 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Located in cytosol; nucleolus; and nucleoplasm. Part of EKC/KEOPS complex. [provided by Alliance of Genome Resources, Apr 2022]

GON7 基因产物(1)

mRNA Protein Name
NM_032490.5 NP_115879.2 EKC/KEOPS complex subunit GON7
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
27903914 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in tRNA threonylcarbamoyladenosine modification IDA
IDA: 通过直接分析推断
31481669 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of EKC/KEOPS complex IDA
IDA: 通过直接分析推断
27903914 GOA
located in nucleus IDA
IDA: 通过直接分析推断
27903914 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

GON7 蛋白结构

DUF4611

DUF4611: Domain of unknown function (DUF4611) (3 - 98)

  • 0
  • 100 a.a.
蛋白主名 其他名称

EKC/KEOPS complex subunit GON7

GON7, KEOPS complex subunit homolog

GON7 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 GON7 Q9BXV9 LAGE3 Homo sapiens Q14657
X-Ray Diffraction
31481669
Intra GON7 Q9BXV9 LAGE3 Homo sapiens Q14657
Anti Tag CoIP
31481669
Intra GON7 Q9BXV9 LAGE3 Homo sapiens Q14657
SAXS
31481669
Intra GON7 Q9BXV9 LAGE3 Homo sapiens Q14657
NMR
31481669
Intra GON7 Q9BXV9 LAGE3 Homo sapiens Q14657
GMS
31481669
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
Galloway-Mowat Syndrome 9

GAMOS9

Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Galloway-Mowat Syndrome 1

Galloway Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Nephrosis-Microcephaly Syndrome

Camos

Scar5

GAMOS1

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Microcephaly, Hiatal Hernia And Nephrotic Syndrome

Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities

Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly

Scar5, Formerly

Spinocerebellar Ataxia Autosomal Recessive 5

Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities

Camos Syndrome

Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome

Galloway-Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 5

Galloway Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 5

Galloway-Mowat Syndrome 2
Hypertensive Encephalopathy

Encephalopathy, Hypertensive

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Polymicrogyria

Pmg

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus GON7 MGD MGI:4845848
Rattus norvegicus GON7 RGD RGD:2302582
Felis catus GON7 VGNC VGNC:62645
Macaca mulatta GON7 VGNC VGNC:108301
Canis familiaris GON7 VGNC VGNC:41349
Bos taurus GON7 VGNC VGNC:29496