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

Gene ID: 165918, updated on 25-Jan-2024

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; AllianceGenome:HGNC:26661
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
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Genomic context

See RNF168 in Genome Data Viewer
Location:
3q29
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196468783..196503768, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199187976..199222947, complement)
105.20220307 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196158055-196158829 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196158830-196159603 Neighboring gene ZDHHC1 pseudogene 1 Neighboring gene UBXN7 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21092 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:196197078-196197254 Neighboring gene uncharacterized LOC105374306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196228749-196229433 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196229434-196230117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15065 Neighboring gene uncharacterized LOC105374307 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196238811-196239311 Neighboring gene single-pass membrane protein with coiled-coil domains 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15066 Neighboring gene NAA50 pseudogene 2

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ35794, FLJ39749

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables K63-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone H2AK15 ubiquitin ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables histone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables histone ubiquitin ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleosome binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables nucleosome binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in DNA repair-dependent chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in DNA repair-dependent chromatin remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in double-strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
involved_in double-strand break repair via classical nonhomologous end joining IDA
Inferred from Direct Assay
more info
PubMed 
involved_in double-strand break repair via nonhomologous end joining IDA
Inferred from Direct Assay
more info
PubMed 
involved_in epigenetic regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in interstrand cross-link repair TAS
Traceable Author Statement
more info
PubMed 
involved_in isotype switching ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription elongation by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
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
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
located_in site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
part_of 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)

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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.

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, Q8NA67, Q96NS4
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    199187976..199222947 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)