C9orf78 - chromosome 9 open reading frame 78 Gene

Also Known as CSU2; TLS1; HCA59; HSPC220; bA409K20.3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51759

About 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.

Summary

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

C9orf78 Products (1)

mRNA Protein Name
NM_016520.3 NP_057604.1 telomere length and silencing protein 1 homolog

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables U5 snRNA binding IDA
IDA: Inferred from direct assay
35241646 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21044950 GOA
Biological Process GO Annotation Evidence References Source
involved in mRNA cis splicing, via spliceosome IMP
IMP: Inferred from mutant phenotype
35241646 GOA
involved in regulation of homologous chromosome segregation IMP
IMP: Inferred from mutant phenotype
35167828 GOA
Cellular Component GO Annotation Evidence References Source
located in chromosome, centromeric region IDA
IDA: Inferred from direct assay
35167828 GOA
located in nucleus IDA
IDA: Inferred from direct assay
35167828 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C9orf78 Protein Structure

Hep_59

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

  • 0
  • 100
  • 200
  • 289 a.a.
Protein Preferred Names Protein Names

telomere length and silencing protein 1 homolog

  • hepatocellular carcinoma-associated antigen 59

C9orf78 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
C9orf78 Q9NZ63 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
Intra
C9orf78 Q9NZ63 TERF2IP Homo sapiens Q9NYB0
BiFC
21044950
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01761 C9orf78 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others C9orf78 NCBI