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

Gene ID: 9025, updated on 22-May-2016
Official Symbol
RNF8provided by HGNC
Official Full Name
ring finger protein 8provided by HGNC
Primary source
HGNC:HGNC:10071
See related
Ensembl:ENSG00000112130 HPRD:11521; MIM:611685; Vega:OTTHUMG00000014620
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]
Orthologs
Location:
6p21.3
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (37353972..37394738)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (37321748..37362514)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Pim-1 proto-oncogene, serine/threonine kinase Neighboring gene transmembrane protein 217 Neighboring gene TBC1 domain family member 22B Neighboring gene uncharacterized LOC105375040 Neighboring gene cap methyltransferase 1 Neighboring gene coiled-coil domain containing 167

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
    Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
  • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
    DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
    G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
  • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
    G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
    Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
  • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
    Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ12013, KIAA0646

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
ligase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
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 ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
histone H2B ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
histone exchange ISS
Inferred from Sequence or Structural Similarity
more info
 
interstrand cross-link repair TAS
Traceable Author Statement
more info
PubMed 
isotype switching ISS
Inferred from Sequence or Structural Similarity
more info
 
mitotic nuclear division IEA
Inferred from Electronic Annotation
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 
protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
spermatid development ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
midbody IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus 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 
Preferred Names
E3 ubiquitin-protein ligase RNF8
Names
C3HC4-type zinc finger protein
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

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_003958.3NP_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
    O76064
    Related
    ENSP00000362578, OTTHUMP00000016323, ENST00000373479, OTTHUMT00000040403
    Conserved Domains (4) summary
    COG1716
    Location:58109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:17110
    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 ...
    cd00162
    Location:402444
    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 ...
    cl21485
    Location:281374
    OmpH; Outer membrane protein (OmpH-like)
  2. NM_183078.2NP_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, OTTHUMP00000216659, ENST00000469731, OTTHUMT00000357593
    Conserved Domains (3) summary
    COG1716
    Location:58109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:17110
    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 ...
    cl21485
    Location:281374
    OmpH; Outer membrane protein (OmpH-like)

RNA

  1. NR_046399.1 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: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    37353972..37394738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715241.2XP_006715304.1  

    Conserved Domains (4) summary
    COG1716
    Location:58109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:17110
    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 ...
    cd00162
    Location:372414
    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 ...
    pfam03938
    Location:281368
    OmpH; Outer membrane protein (OmpH-like)
  2. XM_006715242.2XP_006715305.1  

    Conserved Domains (3) summary
    COG1716
    Location:58109
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:17110
    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 ...
    pfam03938
    Location:281368
    OmpH; Outer membrane protein (OmpH-like)

RNA

  1. XR_427854.2 RNA Sequence

    Related
    ENST00000229866, OTTHUMT00000357594
  2. XR_427855.2 RNA Sequence

  3. XR_427857.2 RNA Sequence

  4. XR_427853.2 RNA Sequence

  5. XR_427856.1 RNA Sequence

  6. XR_427852.1 RNA Sequence

  7. XR_926336.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    37323524..37364290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)