RNF125
E3 ubiquitin-protein ligase RNF125
Also known as: FLJ20456, RN125_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96EQ8
- Gene
- RNF125
- Ensembl
- ENSG00000101695
- Chromosome
- 18
- Canonical length
- 232 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoli,Golgi apparatus
OverviewNCBI Gene
This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]
Canonical amino-acid sequenceUniProt
232 residues, UniProt reviewed canonical sequence.
>Q96EQ8|RNF125
1 MGSVLSTDSG KSAPASATAR ALERRRDPEL PVTSFDCAVC LEVLHQPVRT RCGHVFCRSC
61 IATSLKNNKW TCPYCRAYLP SEGVPATDVA KRMKSEYKNC AECDTLVCLS EMRAHIRTCQ
121 KYIDKYGPLQ ELEETAARCV CPFCQRELYE DSLLDHCITH HRSERRPVFC PLCRLIPDEN
181 PSSFSGSLIR HLQVSHTLFY DDFIDFNIIE EALIRRVLDR SLLEYVNHSN TTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RNF125 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 17 nTPM
- liver: 12 nTPM
- small intestine: 11 nTPM
- duodenum: 9.8 nTPM
- adipose tissue: 9.5 nTPM
- breast: 6.5 nTPM
Single-cell type
- early spermatids: 121 nCPM
- microglia: 88 nCPM
- oligodendrocytes: 71 nCPM
- nk-cells: 47 nCPM
- renal collecting duct principal cells: 26 nCPM
- proximal tubule cells: 26 nCPM
Immune cell
- NK-cell: 16 nTPM
- gdT-cell: 15 nTPM
- T-reg: 14 nTPM
- basophil: 13 nTPM
- memory CD8 T-cell: 13 nTPM
- naive CD8 T-cell: 12 nTPM
Brain region
- white matter: 16 nTPM
- medulla oblongata: 11 nTPM
- thalamus: 11 nTPM
- basal ganglia: 11 nTPM
- pons: 10 nTPM
- midbrain: 10 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RNF125.
Disease | AllUniProt
Conditions RNF125 is implicated in, by any mechanism.
- Tenorio syndrome (TNORS) MIM:616260
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 99 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Tenorio syndrome
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)
- 1.28
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.78
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adaptive immune response
- cellular response to leukemia inhibitory factor
- negative regulation of RIG-I signaling pathway
- negative regulation of type I interferon production
- protein polyubiquitination
- ubiquitin-dependent protein catabolic process
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RNF125 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 RNF125 as an antibody target. Whether an autoantibody or antibody against RNF125 could matter depends on whether native RNF125 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RNF125 is annotated at the cell surface, where native RNF125 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label RNF125 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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