1. Gene
  2. NDC1 - NDC1 transmembrane nucleoporin Gene

NDC1 - NDC1 transmembrane nucleoporin Gene

中文名称:NDC1 跨膜核孔蛋白

种属: Homo sapiens

同用名: NET3; TMEM48

基因 ID: 55706 | 基因类型: protein coding

关于 NDC1

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:53,765,478-53,838,296 (from NCBI)

This gene has 2 transcripts (splice variants) and 201 orthologues. Ubiquitous expression in lymph node (RPKM 8.4), colon (RPKM 6.8) and 25 other tissues.

功能概要

核孔的结构成分。参与核孔复合物组装和核孔定位。位于肌动蛋白细胞骨架;核膜;和质膜。核孔的一部分。 [由基因组资源联盟提供,2022 年 4 月]

A structural constituent of nuclear pore. Involved in nuclear pore complex assembly and nuclear pore localization. Located in actin cytoskeleton; nuclear membrane; and plasma membrane. Part of nuclear pore. [provided by Alliance of Genome Resources, Apr 2022]

NDC1 基因产物(2)

mRNA Protein Name
NM_001168551.2 NP_001162023.1 nucleoporin NDC1 isoform 2
NM_018087.5 NP_060557.3 nucleoporin NDC1 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 structural constituent of nuclear pore IMP
IMP: 通过突变表型推断
16600873 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
16600873 GOA
involved in nuclear pore localization IMP
IMP: 通过突变表型推断
16600873 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
part of nuclear pore IDA
IDA: 通过直接分析推断
16600873 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

NDC1 蛋白结构

Ndc1_Nup

Ndc1_Nup: Nucleoporin protein Ndc1-Nup (19 - 667)

  • 0
  • 200
  • 400
  • 600
  • 674 a.a.
蛋白主名 其他名称

nucleoporin NDC1

nuclear division cycle 1 homolog

关联疾病

疾病名称 别名
Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome

Triple-A Syndrome

Achalasia-Addisonianism-Alacrimia Syndrome

Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

Triple A Syndrome

Aaa Syndrome

AAAS

Glucocorticoid Deficiency With Achalasia

Glucocorticoid Deficiency And Achalasia

Addisonian-Achalasia Syndrome

Hypoadrenalism With Achalasia

Alacrima-Achalasia-Addisonianism

Aaa

Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

Achalasia Addisonianism Alacrimia Syndrome

Achalasia Alacrima Syndrome

Addisonian Achalasia Syndrome

Achalasia-Addisonian Syndrome

Achalasia-Alacrima Syndrome

2a Syndrome

3a Syndrome

4a Syndrome

Adrenal Insufficiency-Achalasia-Alacrima Syndrome

Double A Syndrome

Quaternary A Syndrome

Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

Allgrove'S Syndrome

Adrenal Gland Hypofunction

Adrenal Cortical Hypofunction

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 NDC1 VGNC VGNC:43669
Felis catus NDC1 VGNC VGNC:63746
Mus musculus NDC1 MGD MGI:1920037
Rattus norvegicus NDC1 RGD RGD:1560173
Bos taurus NDC1 VGNC VGNC:31930
Others NDC1 NCBI