1. Gene
  2. TTC5 - tetratricopeptide repeat domain 5 Gene

TTC5 - tetratricopeptide repeat domain 5 Gene

中文名称:四肽重复结构域 5

种属: Homo sapiens

同用名: Strap; NEDCAFD

基因 ID: 91875 | 基因类型: protein coding

关于 TTC5

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:20,286,227-20,305,951 (from NCBI)

This gene has 7 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 7.6), thyroid (RPKM 6.4) and 25 other tissues.

功能概要

预测启用 DNA 结合活性和染色质结合活性。预测参与 DNA 修复。预计在 RNA 聚合酶 II 的转录正调控上游或正调控内起作用。位于核质中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable DNA binding activity and chromatin binding activity. Predicted to be involved in DNA repair. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TTC5 基因产物(1)

mRNA Protein Name
NM_138376.3 NP_612385.2 tetratricopeptide repeat protein 5
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
25416956 GOA
enables ribosome binding IMP
IMP: 通过突变表型推断
31727855 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of mRNA catabolic process IMP
IMP: 通过突变表型推断
31727855 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
31727855 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

TTC5 蛋白结构

TPR_11

TPR_11: TPR repeat (87 - 130)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 440 a.a.
蛋白主名 其他名称

tetratricopeptide repeat protein 5

TPR repeat protein 5

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism

NEDCAFD

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Pseudobulbar Palsy

Pseudobulbar Paralysis

Tubulinopathy

Tubulinopathies

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
Rattus norvegicus TTC5 RGD RGD:1311284
Canis familiaris TTC5 VGNC VGNC:47960
Mus musculus TTC5 MGD MGI:2683584
Felis catus TTC5 VGNC VGNC:66674
Bos taurus TTC5 VGNC VGNC:36479
Macaca mulatta TTC5 VGNC VGNC:79190