Seroatlas · Human Serome Atlas

RNF13

E3 ubiquitin-protein ligase RNF13

Also known as: RNF13_HUMAN, RZF

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

Protein identityUniProt · HPA

UniProt accession: O43567
Gene: RNF13
Ensembl: ENSG00000082996
Chromosome: 3
Canonical length: 381 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

381 residues, UniProt reviewed canonical sequence.

>O43567|RNF13
     1  MLLSIGMLML SATQVYTILT VQLFAFLNLL PVEADILAYN FENASQTFDD LPARFGYRLP
    61  AEGLKGFLIN SKPENACEPI VPPPVKDNSS GTFIVLIRRL DCNFDIKVLN AQRAGYKAAI
   121  VHNVDSDDLI SMGSNDIEVL KKIDIPSVFI GESSANSLKD EFTYEKGGHL ILVPEFSLPL
   181  EYYLIPFLII VGICLILIVI FMITKFVQDR HRARRNRLRK DQLKKLPVHK FKKGDEYDVC
   241  AICLDEYEDG DKLRILPCSH AYHCKCVDPW LTKTKKTCPV CKQKVVPSQG DSDSDTDSSQ
   301  EENEVTEHTP LLRPLASVSA QSFGALSESR SHQNMTESSD YEEDDNEDTD SSDAENEINE
   361  HDVVVQLQPN GERDYNIANT V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RNF13 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: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.44
Highest tissue expression: 173 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 173 nTPM
midbrain: 82 nTPM
salivary gland: 71 nTPM
liver: 69 nTPM
kidney: 63 nTPM
lung: 60 nTPM

Single-cell type

neutrophils: 1,686 nCPM
oligodendrocytes: 598 nCPM
monocytes: 504 nCPM
kupffer cells: 428 nCPM
hofbauer cells: 397 nCPM
macrophages: 394 nCPM

Immune cell

neutrophil: 464 nTPM
non-classical monocyte: 209 nTPM
intermediate monocyte: 154 nTPM
classical monocyte: 130 nTPM
eosinophil: 107 nTPM
total PBMC: 104 nTPM

Brain region

white matter: 231 nTPM
medulla oblongata: 179 nTPM
basal ganglia: 161 nTPM
cerebellum: 151 nTPM
spinal cord: 145 nTPM
midbrain: 141 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RNF13.

Disease | AllUniProt

Conditions RNF13 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 73 (DEE73) MIM:618379

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 310 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 73

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): 0.9
gnomAD pLI: 0
gnomAD missense Z: 0.9
DepMap mean gene effect: 0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% 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 RNF13 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

ERN1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RNF13 as an antibody target. Whether an autoantibody or antibody against RNF13 could matter depends on whether native RNF13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RNF13 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 RNF13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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