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

Gene ID: 9025, updated on 21-Dec-2019

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
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

Genomic context

See RNF8 in Genome Data Viewer
Location:
6p21.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (37353983..37394734)
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 TBC1 domain family member 22B Neighboring gene Sharpr-MPRA regulatory region 3623 Neighboring gene uncharacterized LOC105375040 Neighboring gene RNA, 7SL, cytoplasmic 273, pseudogene Neighboring gene translation initiation factor IF-2-like Neighboring gene cap methyltransferase 1 Neighboring gene coiled-coil domain containing 167

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
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 cycle IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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 IBA
Inferred from Biological aspect of Ancestor
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 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
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
 
spermatogenesis, exchange of chromosomal proteins ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
midbody IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
XP_006715304.1
XP_006715305.1
XP_016866951.1
XP_016866952.1
XP_016866953.1

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.

mRNA and Protein(s)

  1. NM_003958.4NP_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
    ENSP00000362578.4, ENST00000373479.9
    Conserved Domains (4) summary
    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 ...
    pfam09787
    Location:264379
    Golgin_A5; Golgin subfamily A member 5
    cd16535
    Location:400441
    RING-HC_RNF8; RING finger, HC subclass, found in RING finger protein 8 (RNF8) and similar proteins
    cl27165
    Location:370485
    PHA02929; N1R/p28-like protein; Provisional
  2. NM_183078.3NP_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: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 ...
    cd16269
    Location:394404
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:283404
    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: 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_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006715242.3XP_006715305.1  E3 ubiquitin-protein ligase RNF8 isoform X3

    Conserved Domains (5) 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:236366
    OmpH; Outer membrane protein (OmpH-like)
    cd16269
    Location:359370
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:266372
    GBP_C; Guanylate-binding protein, C-terminal domain
  2. XM_006715241.3XP_006715304.1  E3 ubiquitin-protein ligase RNF8 isoform X1

    Conserved Domains (6) 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:236366
    OmpH; Outer membrane protein (OmpH-like)
    cd16269
    Location:359370
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:266372
    GBP_C; Guanylate-binding protein, C-terminal domain
  3. XM_017011464.1XP_016866953.1  E3 ubiquitin-protein ligase RNF8 isoform X5

  4. XM_017011463.1XP_016866952.1  E3 ubiquitin-protein ligase RNF8 isoform X4

  5. XM_017011462.1XP_016866951.1  E3 ubiquitin-protein ligase RNF8 isoform X2

RNA

  1. XR_001743734.2 RNA Sequence

  2. XR_001743731.2 RNA Sequence

    Related
    ENST00000229866.10
  3. XR_427853.3 RNA Sequence

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