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RNF168 ring finger protein 168 [ Homo sapiens (human) ]

Gene ID: 165918, updated on 9-Feb-2020

Summary

Official Symbol
RNF168provided by HGNC
Official Full Name
ring finger protein 168provided by HGNC
Primary source
HGNC:HGNC:26661
See related
Ensembl:ENSG00000163961 MIM:612688
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RIDL; hRNF168
Summary
This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]
Expression
Broad expression in testis (RPKM 13.5), bone marrow (RPKM 9.5) and 24 other tissues See more
Orthologs

Genomic context

See RNF168 in Genome Data Viewer
Location:
3q29
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (196468783..196503768, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196195654..196230639, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene UBX domain protein 7 Neighboring gene RNA, 7SL, cytoplasmic 738, pseudogene Neighboring gene UBXN7 antisense RNA 1 Neighboring gene uncharacterized LOC105374306 Neighboring gene uncharacterized LOC105374307 Neighboring gene single-pass membrane protein with coiled-coil domains 1 Neighboring gene ribosomal protein S29 pseudogene 3

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Riddle syndrome
MedGen: C2677792 OMIM: 611943 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35794, FLJ39749

Gene Ontology Provided by GOA

Function Evidence Code Pubs
K63-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
histone binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleosome binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
histone H2A K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
histone H2A K63-linked ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
histone H2A monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
histone H2A monoubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
histone H2A-K13 ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
histone H2A-K15 ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
histone H2A-K15 ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
interstrand cross-link repair TAS
Traceable Author Statement
more info
PubMed 
isotype switching ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription elongation from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase RNF168
Names
RING-type E3 ubiquitin transferase RNF168
ring finger protein 168, E3 ubiquitin protein ligase
NP_689830.2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_023425.1 RefSeqGene

    Range
    5001..39986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_185

mRNA and Protein(s)

  1. NM_152617.4NP_689830.2  E3 ubiquitin-protein ligase RNF168

    See identical proteins and their annotated locations for NP_689830.2

    Status: REVIEWED

    Source sequence(s)
    AC117490, AK054732, BC033791, BC047483
    Consensus CDS
    CCDS3317.1
    UniProtKB/Swiss-Prot
    Q8IYW5
    Related
    ENSP00000320898.3, ENST00000318037.3
    Conserved Domains (1) summary
    cd00162
    Location:1558
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    196468783..196503768 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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