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

Summary

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSC2PC102 (e-PCR)
- UniSTS:25693

RH46751 (e-PCR)
- UniSTS:25694

A004W02 (e-PCR)
- UniSTS:77412

RH45129 (e-PCR)
- UniSTS:77725

RH93720 (e-PCR)
- UniSTS:90574

D11S3590 (e-PCR)
- UniSTS:152828

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

EC 2.3.2.27

NP_898901.1

EC 2.3.2.27

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)

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
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

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