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RNF8 ring finger protein 8 [ Homo sapiens (human) ]

Gene ID: 9025, updated on 3-Nov-2024

Summary

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Official Symbol
RNF8provided by HGNC
Official Full Name
ring finger protein 8provided by HGNC
Primary source
HGNC:HGNC:10071
See related
Ensembl:ENSG00000112130 MIM:611685; AllianceGenome:HGNC:10071
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
hRNF8
Summary
The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Expression
Ubiquitous expression in testis (RPKM 6.4), brain (RPKM 2.8) and 24 other tissues See more
Orthologs
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Genomic context

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See RNF8 in Genome Data Viewer
Location:
6p21.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (37353983..37394734)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (37177541..37218292)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (37321759..37362510)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 217B Neighboring gene transmembrane protein 217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24455 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37225915-37226550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37232157-37232657 Neighboring gene TBC1 domain family member 22B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17138 Neighboring gene Sharpr-MPRA regulatory region 3623 Neighboring gene uncharacterized LOC105375040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17139 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:37335886-37337085 Neighboring gene Sharpr-MPRA regulatory region 7630 Neighboring gene RNA, 7SL, cytoplasmic 273, pseudogene Neighboring gene uncharacterized LOC107986531 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37400679-37401180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17140 Neighboring gene cap methyltransferase 1 Neighboring gene MPRA-validated peak5792 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:37427605-37428259 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:37448259-37448959 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37456899-37457744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24460 Neighboring gene coiled-coil domain containing 167

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. RNF8 plays an important role in the radioresistance of human nasopharyngeal cancer cells in vitro. Wang M, et al. Oncol Rep, 2015 Jul. PMID 25955491
  2. RNF8 Dysregulation and Down-regulation During HTLV-1 Infection Promote Genomic Instability in Adult T-Cell Leukemia. Zhi H, et al. PLoS Pathog, 2020 May. PMID 32453758, Free PMC Article
  3. Regulation of mitotic exit by the RNF8 ubiquitin ligase. Plans V, et al. Oncogene, 2008 Feb 28. PMID 17724460
  4. RNF8 promotes epithelial-mesenchymal transition of breast cancer cells. Kuang J, et al. J Exp Clin Cancer Res, 2016 Jun 4. PMID 27259701, Free PMC Article
  5. Adenovirus-mediated downregulation of the ubiquitin ligase RNF8 sensitizes bladder cancer to radiotherapy. Zhao MJ, et al. Oncotarget, 2016 Feb 23. PMID 26788910, Free PMC Article

See all (151) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNF8-mediated multi-ubiquitination of MCM7: Linking disassembly of the CMG helicase with DNA damage response in human cells.
    Title: RNF8-mediated multi-ubiquitination of MCM7: Linking disassembly of the CMG helicase with DNA damage response in human cells.
  2. CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma.
    Title: CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma.
  3. RNF8 depletion attenuates hepatocellular carcinoma progression by inhibiting epithelial-mesenchymal transition and enhancing drug sensitivity.
    Title: RNF8 depletion attenuates hepatocellular carcinoma progression by inhibiting epithelial-mesenchymal transition and enhancing drug sensitivity.
  4. RNF8 up-regulates AR/ARV7 action to contribute to advanced prostate cancer progression.
    Title: RNF8 up-regulates AR/ARV7 action to contribute to advanced prostate cancer progression.
  5. RNF8 induces beta-catenin-mediated c-Myc expression and promotes colon cancer proliferation.
    Title: RNF8 induces β-catenin-mediated c-Myc expression and promotes colon cancer proliferation.
  6. RNF8 Promotes Epithelial-Mesenchymal Transition in Lung Cancer Cells via Stabilization of Slug.
    Title: RNF8 Promotes Epithelial-Mesenchymal Transition in Lung Cancer Cells via Stabilization of Slug.
  7. RNF8-ubiquitinated KMT5A is required for RNF168-induced H2A ubiquitination in response to DNA damage.
    Title: RNF8-ubiquitinated KMT5A is required for RNF168-induced H2A ubiquitination in response to DNA damage.
  8. The ubiquitin ligase RNF8 regulates Rho GTPases and promotes cytoskeletal changes and motility in triple-negative breast cancer cells.
    Title: The ubiquitin ligase RNF8 regulates Rho GTPases and promotes cytoskeletal changes and motility in triple-negative breast cancer cells.
  9. RNF8 promotes high linear energy transfer carbon-ion-induced DNA double-stranded break repair in serum-starved human cells.
    Title: RNF8 promotes high linear energy transfer carbon-ion-induced DNA double-stranded break repair in serum-starved human cells.
  10. RNF8 has both KU-dependent and independent roles in chromosomal break repair.
    Title: RNF8 has both KU-dependent and independent roles in chromosomal break repair.
Submit: New GeneRIF Correction See all GeneRIFs (77)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12013, KIAA0646

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin binding IEA
Inferred from Electronic Annotation
more info
  
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
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 cell division IEA
Inferred from Electronic Annotation
more info
  
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 nonhomologous end joining ISS
Inferred from Sequence or Structural Similarity
more info
  
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 double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K48-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K6-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein autoubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to ionizing radiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction in response to DNA damage IEA
Inferred from Electronic Annotation
more info
  
involved_in sperm DNA condensation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in midbody IEA
Inferred from Electronic Annotation
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 
is_active_in site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in site of double-strand break IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
E3 ubiquitin-protein ligase RNF8
Names
C3HC4-type zinc finger protein
RING-type E3 ubiquitin transferase RNF8
UBC13/UEV-interacting ring finger protein
ring finger protein (C3HC4 type) 8
ring finger protein 8, E3 ubiquitin protein ligase
NP_003949.1
NP_898901.1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_003958.4 → NP_003949.1  E3 ubiquitin-protein ligase RNF8 isoform 1

    See identical proteins and their annotated locations for NP_003949.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the most abundant transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB014546, BE327572, DA064222
    Consensus CDS
    CCDS4834.1
    UniProtKB/Swiss-Prot
    A6NN24, A8MYC0, B4DPG0, O76064, Q53H16, Q5NKW5
    Related
    ENSP00000362578.4, ENST00000373479.9
    Conserved Domains (4) summary
    cd00060
    Location:17 → 110
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    pfam09787
    Location:264 → 379
    Golgin_A5; Golgin subfamily A member 5
    cd16535
    Location:400 → 441
    RING-HC_RNF8; RING finger, HC subclass, found in RING finger protein 8 (RNF8) and similar proteins
    cl27165
    Location:370 → 485
    PHA02929; N1R/p28-like protein; Provisional

  2. NM_183078.3 → NP_898901.1  E3 ubiquitin-protein ligase RNF8 isoform 2

    See identical proteins and their annotated locations for NP_898901.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon within the coding region, which leads to a translation frameshift, as compared to variant 1. The resulting isoform (2) contains a distinct and shorter C-terminus, as compared to isoform 1.
    Source sequence(s)
    AB014546, BC007517, BE327572, BM979512, DA064222
    Consensus CDS
    CCDS4833.1
    UniProtKB/Swiss-Prot
    O76064
    Related
    ENSP00000418879.1, ENST00000469731.5
    Conserved Domains (4) summary
    COG1716
    Location:58 → 109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:17 → 110
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd16269
    Location:394 → 404
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:283 → 404
    GBP_C; Guanylate-binding protein, C-terminal domain

RNA

  1. NR_046399.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region which results in a frameshift, compared to variant 1, and which renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). Therefore, this variant is represented as non-protein coding.
    Source sequence(s)
    AB014546, AK298319, BE327572, DA064222

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    37353983..37394734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    37177541..37218292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O76064.1 GenPept UniProtKB/Swiss-Prot:O76064

Gene LinkOut

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