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C9orf116 chromosome 9 open reading frame 116 [ Homo sapiens (human) ]

Gene ID: 138162, updated on 11-Jun-2021

Summary

Official Symbol
C9orf116provided by HGNC
Official Full Name
chromosome 9 open reading frame 116provided by HGNC
Primary source
HGNC:HGNC:28435
See related
Ensembl:ENSG00000160345 MIM:614502
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
PIERCE1; RbEST47
Expression
Biased expression in testis (RPKM 17.0), lung (RPKM 3.3) and 9 other tissues See more
Orthologs
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Genomic context

See C9orf116 in Genome Data Viewer
Location:
9q34.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (135495181..135499869, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (138387027..138391715, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PPP1R26 antisense RNA 1 Neighboring gene protein phosphatase 1 regulatory subunit 26 Neighboring gene uncharacterized LOC101928525 Neighboring gene mitochondrial ribosomal protein S2 Neighboring gene lipocalin 1

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

Clone Names

  • FLJ13945, MGC29761, RP11-426A6.4

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 cellular response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to UV-C IEA
Inferred from Electronic Annotation
more info
 
involved_in determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
UPF0691 protein C9orf116
Names
p53-induced expression 1 in Rb-/- cells
p53-induced expression 1 in Rba^'/a^' cells
p53-induced expression in RB-null cells protein 1
pierce 1

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_001048265.2NP_001041730.1  UPF0691 protein C9orf116 isoform 1

    See identical proteins and their annotated locations for NP_001041730.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI367252, AY927868, DR003074
    Consensus CDS
    CCDS43899.1
    UniProtKB/Swiss-Prot
    Q5BN46
    Related
    ENSP00000395281.2, ENST00000429260.7
    Conserved Domains (1) summary
    pfam14892
    Location:9106
    DUF4490; Domain of unknown function (DUF4490)
  2. NM_144654.3NP_653255.1  UPF0691 protein C9orf116 isoform 2

    See identical proteins and their annotated locations for NP_653255.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, resulting in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC021261
    Consensus CDS
    CCDS6989.1
    UniProtKB/Swiss-Prot
    Q5BN46
    Related
    ENSP00000360854.3, ENST00000371789.7
    Conserved Domains (1) summary
    pfam14892
    Location:976
    DUF4490; Domain of unknown function (DUF4490)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    135495181..135499869 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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