1. Gene
  2. THUMPD1 - THUMP domain containing 1 Gene

THUMPD1 - THUMP domain containing 1 Gene

中文名称:含 THUMP 结构域 1

种属: Homo sapiens

同用名: Tan1; NEDSOA

基因 ID: 55623 | 基因类型: protein coding

关于 THUMPD1

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:20,733,664-20,741,818 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues and is associated with 1 phenotype. Ubiquitous expression in prostate (RPKM 15.3), endometrium (RPKM 11.9) and 25 other tissues.

功能概要

启用 RNA 结合活性。预计参与 tRNA 修饰。预测位于核质中。 [由基因组资源联盟提供,2022 年 4 月]

Enables RNA binding activity. Predicted to be involved in tRNA modification. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

THUMPD1 基因产物(2)

mRNA Protein Name
NM_001304550.2 NP_001291479.1 THUMP domain-containing protein 1
NM_017736.5 NP_060206.2 THUMP domain-containing protein 1
基因本体论
  • 分子功能
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
25653167 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

THUMPD1 蛋白结构

THUMP

THUMP: THUMP domain (121 - 253)

  • 0
  • 100
  • 200
  • 300
  • 353 a.a.
蛋白主名 其他名称

THUMP domain-containing protein 1

THUMPD1 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
THUMPD1 Q9NXG2 NAT10 Homo sapiens Q9H0A0 28514442
种属内
THUMPD1 Q9NXG2 NAT10 Homo sapiens Q9H0A0 33961781
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 Speech Delay And Variable Ocular Anomalies

NEDSOA

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Theileriasis

Theileriosis

Infection By Theileria

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 THUMPD1 MGD MGI:2444479
Rattus norvegicus THUMPD1 RGD RGD:1308854
Bos taurus THUMPD1 VGNC VGNC:35853
Macaca mulatta THUMPD1 VGNC VGNC:99610
Canis familiaris THUMPD1 VGNC VGNC:47360