RNF168
E3 ubiquitin-protein ligase RNF168
Also known as: FLJ35794, RN168_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IYW5
- Gene
- RNF168
- Ensembl
- ENSG00000163961
- Chromosome
- 3
- Canonical length
- 571 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
571 residues, UniProt reviewed canonical sequence.
>Q8IYW5|RNF168
1 MALPKDAIPS LSECQCGICM EILVEPVTLP CNHTLCKPCF QSTVEKASLC CPFCRRRVSS
61 WTRYHTRRNS LVNVELWTII QKHYPRECKL RASGQESEEV ADDYQPVRLL SKPGELRREY
121 EEEISKVAAE RRASEEEENK ASEEYIQRLL AEEEEEEKRQ AEKRRRAMEE QLKSDEELAR
181 KLSIDINNFC EGSISASPLN SRKSDPVTPK SEKKSKNKQR NTGDIQKYLT PKSQFGSASH
241 SEAVQEVRKD SVSKDIDSSD RKSPTGQDTE IEDMPTLSPQ ISLGVGEQGA DSSIESPMPW
301 LCACGAEWYH EGNVKTRPSN HGKELCVLSH ERPKTRVPYS KETAVMPCGR TESGCAPTSG
361 VTQTNGNNTG ETENEESCLL ISKEISKRKN QESSFEAVKD PCFSAKRRKV SPESSPDQEE
421 TEINFTQKLI DLEHLLFERH KQEEQDRLLA LQLQKEVDKE QMVPNRQKGS PDEYHLRATS
481 SPPDKVLNGQ RKNPKDGNFK RQTHTKHPTP ERGSRDKNRQ VSLKMQLKQS VNRRKMPNST
541 RDHCKVSKSA HSLQPSISQK SVFQMFQRCT KLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RNF168 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.6
- Highest tissue expression
- 19 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 19 nTPM
- skeletal muscle: 12 nTPM
- skin: 11 nTPM
- testis: 10 nTPM
- liver: 9.7 nTPM
- vagina: 8.9 nTPM
Single-cell type
- late spermatids: 735 nCPM
- early spermatids: 312 nCPM
- neutrophil progenitors: 196 nCPM
- basal keratinocytes: 160 nCPM
- suprabasal keratinocytes: 160 nCPM
- urothelial cells: 156 nCPM
Immune cell
- basophil: 30 nTPM
- gdT-cell: 12 nTPM
- non-classical monocyte: 12 nTPM
- MAIT T-cell: 11 nTPM
- memory CD4 T-cell: 10 nTPM
- naive CD8 T-cell: 9.3 nTPM
Brain region
- pons: 20 nTPM
- medulla oblongata: 20 nTPM
- hypothalamus: 19 nTPM
- cerebellum: 19 nTPM
- white matter: 19 nTPM
- midbrain: 18 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RNF168.
Disease | AllUniProt
Conditions RNF168 is implicated in, by any mechanism.
- Riddle syndrome (RIDL) MIM:611943
Disease | GeneticClinVar
35 pathogenic / likely-pathogenic of 399 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- RIDDLE syndrome
- RNF168-related disorder
- Familial cancer of breast
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.2
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.39
- DepMap mean gene effect
- -0.51
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA damage response
- DNA repair-dependent chromatin remodeling
- double-strand break repair
- double-strand break repair via classical nonhomologous end joining
- double-strand break repair via nonhomologous end joining
- epigenetic regulation of gene expression
- interstrand cross-link repair
- isotype switching
- negative regulation of transcription elongation by RNA polymerase II
- positive regulation of DNA repair
- protein K63-linked ubiquitination
- protein ubiquitination
- response to ionizing radiation
- ubiquitin-dependent protein catabolic process
Molecular functions
- chromatin binding
- histone binding
- histone ubiquitin ligase activity
- K63-linked polyubiquitin modification-dependent protein binding
- nucleosome binding
- ubiquitin binding
- ubiquitin-protein transferase activity
- zinc ion binding
- histone H2AK15 ubiquitin ligase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Zinc finger, RING-type
- Zinc finger, RING/FYVE/PHD-type
- RNF168/RNF169 E3 ubiquitin-protein ligase
- E3 ubiquitin-protein ligase RNF168
- Prokaryotic RING finger family 4
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RNF168 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RNF168 as an antibody target. Whether an autoantibody or antibody against RNF168 could matter depends on whether native RNF168 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RNF168 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RNF168 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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