C9orf78 - chromosome 9 open reading frame 78 Gene

Homo sapiens

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

Gene ID: 51759 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

0
100
200
289 a.a.

Protein Preferred Names

Protein Names

telomere length and silencing protein 1 homolog

hepatocellular carcinoma-associated antigen 59

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01761	C9orf78 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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