1. Gene
  2. C9orf78 - chromosome 9 open reading frame 78 Gene

C9orf78 - chromosome 9 open reading frame 78 Gene

中文名称:9 号染色体开放阅读框 78

种属: Homo sapiens

同用名: CSU2; TLS1; HCA59; HSPC220; bA409K20.3

基因 ID: 51759 | 基因类型: protein coding

关于 C9orf78

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:129,827,290-129,835,275 (from NCBI)

This gene has 7 transcripts (splice variants) and 209 orthologues. Ubiquitous expression in bone marrow (RPKM 42.7), kidney (RPKM 29.7) and 25 other tissues.

功能概要

位于细胞质和核质中。 [由基因组资源联盟提供,2022 年 4 月]

Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

C9orf78 基因产物(1)

mRNA Protein Name
NM_016520.3 NP_057604.1 telomere length and silencing protein 1 homolog
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 U5 snRNA binding IDA
IDA: 通过直接分析推断
35241646 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21044950 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA cis splicing, via spliceosome IMP
IMP: 通过突变表型推断
35241646 GOA
involved in regulation of homologous chromosome segregation IMP
IMP: 通过突变表型推断
35167828 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromosome, centromeric region IDA
IDA: 通过直接分析推断
35167828 GOA
located in nucleus IDA
IDA: 通过直接分析推断
35167828 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

C9orf78 蛋白结构

Hep_59

Hep_59: Hepatocellular carcinoma-associated antigen 59 (101 - 198)

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

telomere length and silencing protein 1 homolog

hepatocellular carcinoma-associated antigen 59

C9orf78 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
C9orf78 Q9NZ63 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
种属内
C9orf78 Q9NZ63 TERF2IP Homo sapiens Q9NYB0
BiFC
21044950
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
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

EDMD4

Emery-Dreifuss Muscular Dystrophy 4 With Variable Features

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4

Emd4

Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 4

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

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 C9orf78 RGD RGD:1305178
Mus musculus C9orf78 MGD MGI:2385132
Bos taurus C9orf78 VGNC VGNC:52623
Macaca mulatta C9orf78 VGNC VGNC:70377
Felis catus C9orf78 VGNC VGNC:60631