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C9orf78 chromosome 9 open reading frame 78 [ Homo sapiens (human) ]

Gene ID: 51759, updated on 16-Aug-2022

Summary

Official Symbol
C9orf78provided by HGNC
Official Full Name
chromosome 9 open reading frame 78provided by HGNC
Primary source
HGNC:HGNC:24932
See related
Ensembl:ENSG00000136819 MIM:619569; AllianceGenome:HGNC:24932
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CSU2; TLS1; HCA59; HSPC220; bA409K20.3
Summary
Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 42.7), kidney (RPKM 29.7) and 25 other tissues See more
Orthologs
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Genomic context

See C9orf78 in Genome Data Viewer
Location:
9q34.11
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129827290..129835275, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (142031858..142039846, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132589569..132597554, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13743 Neighboring gene torsin family 1 member A Neighboring gene Sharpr-MPRA regulatory region 5710 Neighboring gene ubiquitin specific peptidase 20 Neighboring gene Sharpr-MPRA regulatory region 12255 Neighboring gene microRNA 6855

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
part_of spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
telomere length and silencing protein 1 homolog
Names
hepatocellular carcinoma-associated antigen 59
uncharacterized protein C9orf78

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_016520.3NP_057604.1  telomere length and silencing protein 1 homolog

    See identical proteins and their annotated locations for NP_057604.1

    Status: VALIDATED

    Source sequence(s)
    AL158207, BC007664, BU674575, CB128496
    Consensus CDS
    CCDS6931.1
    UniProtKB/Swiss-Prot
    Q9NT39, Q9NZ63
    Related
    ENSP00000361524.3, ENST00000372447.7
    Conserved Domains (1) summary
    pfam07052
    Location:101196
    Hep_59; Hepatocellular carcinoma-associated antigen 59

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    129827290..129835275 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    142031858..142039846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)