2. Gene
  3. NUP205 - nucleoporin 205 Gene

NUP205 - nucleoporin 205 Gene

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

中文名称：核孔蛋白 205

种属: Homo sapiens

同用名: NPHS13; C7orf14

基因 ID: 23165 | 基因类型: protein coding

关于 NUP205

Cytogenetic location: 7q33 Genomic coordinates (GRCh38): 7:135,557,917-135,648,753 (from NCBI)

This gene has 10 transcripts (splice variants), 223 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 10.1), lymph node (RPKM 10.1) and 25 other tissues.

功能概要

该基因编码核孔蛋白，它是核孔复合物的一个亚基，在细胞核和细胞质之间主动运输蛋白质、RNA 和核糖核蛋白颗粒。该基因的突变与类固醇耐药性肾病综合征有关。[RefSeq 提供，2016 年 7 月]

This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]

NUP205 基因产物(2)

mRNA Protein Name
NM_001329434.2 NP_001316363.2 nuclear pore complex protein Nup205 isoform 2
NM_015135.3 NP_055950.2 nuclear pore complex protein Nup205 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 protein binding IPI
IPI: 通过物理相互作用推断
9348540 GOA
enables structural constituent of nuclear pore IMP
IMP: 通过突变表型推断
15229283 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nuclear pore complex assembly IMP
IMP: 通过突变表型推断
15229283 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear envelope IDA
IDA: 通过直接分析推断
24315095 GOA
located in nuclear membrane IDA
IDA: 通过直接分析推断
15229283 GOA
located in nuclear periphery IDA
IDA: 通过直接分析推断
15229283 GOA
part of nuclear pore IDA
IDA: 通过直接分析推断
12802065 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

NUP205 蛋白结构

Nup192

Nup192: Nuclear pore complex scaffold, nucleoporins 186/192/205 (14 - 1729)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2012 a.a.
蛋白主名 其他名称

nuclear pore complex protein Nup205

205 kDa nucleoporin

NUP205 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
种属间
NUP205 Q92621 E4 Human adenovirus C Q6VGT1
Anti Tag CoIP
25210169
种属间
NUP205 Q92621 rev Human immunodeficiency virus P04618
Anti Tag CoIP
25210169
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
Nephrotic Syndrome, Type 13

NPHS13

Nephrotic Syndrome Type 13

Nephrotic Syndrome 13
Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Influenza

Flu

Influenza With Non-Respiratory Manifestation

Influenza With Other Manifestations

Influenza, Human

Influenza, Susceptibility To

Seasonal Influenza, Virus Identified
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified
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
Schimke Immunoosseous Dysplasia

Schimke Immuno-Osseous Dysplasia

SIOD

Immunoosseous Dysplasia, Schimke Type

Schimke Syndrome

Immunoosseous Dysplasia Schimke Type

Spondyloepiphyseal Dysplasia - Nephrotic Syndrome

Spondyloepiphyseal Dysplasia Nephrotic Syndrome

Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
Paget'S Disease Of Bone

Osteitis Deformans

Paget Disease Of Bone

Osseous Paget'S Disease

Paget Disease Of Bone, Familial

Bone Paget Disease

Familial Paget'S Disease Of Bone

Paget'S Bone Disease

Familial Paget Disease Of Bone

Paget Disease, Bone

Pdb

Pagets Bone 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

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-RS09689 NUP205 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris NUP205 VGNC VGNC:44049
Bos taurus NUP205 VGNC VGNC:32355
Rattus norvegicus NUP205 RGD RGD:1309413
Macaca mulatta NUP205 VGNC VGNC:75432
Felis catus NUP205 VGNC VGNC:63921
Mus musculus NUP205 MGD MGI:2141625
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