Seroatlas · Human Serome Atlas

RNF113A

E3 ubiquitin-protein ligase RNF113A

Also known as: Cwc24, R113A_HUMAN, RNF113, ZNF183

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O15541
Gene: RNF113A
Ensembl: ENSG00000125352
Chromosome: X
Canonical length: 343 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

343 residues, UniProt reviewed canonical sequence.

>O15541|RNF113A
     1  MAEQLSPGKA VDQVCTFLFK KPGRKGAAGR RKRPACDPEP GESGSSSDEG CTVVRPEKKR
    61  VTHNPMIQKT RDSGKQKAAY GDLSSEEEEE NEPESLGVVY KSTRSAKPVG PEDMGATAVY
   121  ELDTEKERDA QAIFERSQKI QEELRGKEDD KIYRGINNYQ KYMKPKDTSM GNASSGMVRK
   181  GPIRAPEHLR ATVRWDYQPD ICKDYKETGF CGFGDSCKFL HDRSDYKHGW QIERELDEGR
   241  YGVYEDENYE VGSDDEEIPF KCFICRQSFQ NPVVTKCRHY FCESCALQHF RTTPRCYVCD
   301  QQTNGVFNPA KELIAKLEKH RATGEGGASD LPEDPDEDAI PIT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RNF113A 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): 0.56
Highest tissue expression: 33 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 33 nTPM
spleen: 26 nTPM
lymph node: 23 nTPM
thymus: 23 nTPM
pancreas: 20 nTPM
small intestine: 19 nTPM

Single-cell type

extravillous trophoblasts: 51 nCPM
plasma cells: 37 nCPM
oocytes: 37 nCPM
nk-cells: 35 nCPM
t-cells: 34 nCPM
syncytiotrophoblasts: 32 nCPM

Immune cell

eosinophil: 110 nTPM
basophil: 97 nTPM
T-reg: 97 nTPM
naive B-cell: 89 nTPM
memory B-cell: 84 nTPM
naive CD4 T-cell: 82 nTPM

Brain region

hypothalamus: 13 nTPM
midbrain: 11 nTPM
pons: 11 nTPM
cerebellum: 11 nTPM
medulla oblongata: 11 nTPM
white matter: 10 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RNF113A.

Disease | AllUniProt

Conditions RNF113A is implicated in, by any mechanism.

Trichothiodystrophy 5, non-photosensitive (TTD5) MIM:300953

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 127 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Trichothiodystrophy 5, nonphotosensitive
Abnormal cerebral morphology

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): 0.42
gnomAD pLI: 0.89
gnomAD missense Z: 1.77
DepMap mean gene effect: -1.01
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RNF113A 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 RNF113A as an antibody target. Whether an autoantibody or antibody against RNF113A could matter depends on whether native RNF113A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RNF113A 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 RNF113A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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