Seroatlas · Human Serome Atlas

RNF220

E3 ubiquitin-protein ligase RNF220

Also known as: C1orf164, FLJ10597, RN220_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q5VTB9
Gene
RNF220
Ensembl
ENSG00000187147
Chromosome
1
Canonical length
566 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

Enables beta-catenin binding activity. Involved in positive regulation of canonical Wnt signaling pathway. Acts upstream of or within positive regulation of DNA-binding transcription factor activity and protein monoubiquitination. Located in nuclear lamina and nucleoplasm. Part of protein-containing complex. Implicated in hypomyelinating leukodystrophy 23. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

566 residues, UniProt reviewed canonical sequence.

>Q5VTB9|RNF220
     1  MDLHRAAFKM ENSSYLPNPL ASPALMVLAS TAEASRDASI PCQQPRPFGV PVSVDKDVHI
    61  PFTNGSYTFA SMYHRQGGVP GTFANRDFPP SLLHLHPQFA PPNLDCTPIS MLNHSGVGAF
   121  RPFASTEDRE SYQSAFTPAK RLKNCHDTES PHLRFSDADG KEYDFGTQLP SSSPGSLKVD
   181  DTGKKIFAVS GLISDREASS SPEDRNDRCK KKAAALFDSQ APICPICQVL LRPSELQEHM
   241  EQELEQLAQL PSSKNSLLKD AMAPGTPKSL LLSASIKREG ESPTASPHSS ATDDLHHSDR
   301  YQTFLRVRAN RQTRLNARIG KMKRRKQDEG QREGSCMAED DAVDIEHENN NRFEEYEWCG
   361  QKRIRATTLL EGGFRGSGFI MCSGKENPDS DADLDVDGDD TLEYGKPQYT EADVIPCTGE
   421  EPGEAKEREA LRGAVLNGGP PSTRITPEFS KWASDEMPST SNGESSKQEA MQKTCKNSDI
   481  EKITEDSAVT TFEALKARVR ELERQLSRGD RYKCLICMDS YSMPLTSIQC WHVHCEECWL
   541  RTLGAKKLCP QCNTITAPGD LRRIYL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RNF220 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)
0.63
Highest tissue expression
86 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 86 nTPM
  • midbrain: 44 nTPM
  • hippocampal formation: 40 nTPM
  • basal ganglia: 29 nTPM
  • cerebral cortex: 28 nTPM
  • hypothalamus: 25 nTPM

Single-cell type

  • oligodendrocytes: 2,815 nCPM
  • hematopoietic stem cells: 2,463 nCPM
  • megakaryocyte-erythroid progenitors: 1,150 nCPM
  • thymocytes: 930 nCPM
  • megakaryocyte progenitors: 485 nCPM
  • bergmann glia: 303 nCPM

Immune cell

  • plasmacytoid DC: 2.5 nTPM
  • memory CD8 T-cell: 1.6 nTPM
  • myeloid DC: 1.3 nTPM
  • T-reg: 1.3 nTPM
  • eosinophil: 1.2 nTPM
  • gdT-cell: 1.2 nTPM

Brain region

  • white matter: 264 nTPM
  • thalamus: 164 nTPM
  • basal ganglia: 157 nTPM
  • medulla oblongata: 156 nTPM
  • pons: 151 nTPM
  • cerebral cortex: 135 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RNF220.

Disease | AllUniProt

Conditions RNF220 is implicated in, by any mechanism.

  • Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy (HLD23) MIM:619688

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 94 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy

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)
0.2
gnomAD pLI
1
gnomAD missense Z
2.22
DepMap mean gene effect
-0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 RNF220 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 RNF220 as an antibody target. Whether an autoantibody or antibody against RNF220 could matter depends on whether native RNF220 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RNF220 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 RNF220 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RNF220. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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