Seroatlas · Human Serome Atlas

RNF170

E3 ubiquitin-protein ligase RNF170

Also known as: ADSA, DKFZP564A022, RN170_HUMAN, SNAX1

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

Protein identityUniProt · HPA

UniProt accession
Q96K19
Gene
RNF170
Ensembl
ENSG00000120925
Chromosome
8
Canonical length
258 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

Canonical amino-acid sequenceUniProt

258 residues, UniProt reviewed canonical sequence.

>Q96K19|RNF170
     1  MAKYQGEVQS LKLDDDSVIE GVSDQVLVAV VVSFALIATL VYALFRNVHQ NIHPENQELV
    61  RVLREQLQTE QDAPAATRQQ FYTDMYCPIC LHQASFPVET NCGHLFCGAC IIAYWRYGSW
   121  LGAISCPICR QTVTLLLTVF GEDDQSQDVL RLHQDINDYN RRFSGQPRSI MERIMDLPTL
   181  LRHAFREMFS VGGLFWMFRI RIILCLMGAF FYLISPLDFV PEALFGILGF LDDFFVIFLL
   241  LIYISIMYRE VITQRLTR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RNF170 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
3
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
33 nTPM

Expression across tissuesHPA

Tissue

  • retina: 33 nTPM
  • thyroid gland: 27 nTPM
  • liver: 18 nTPM
  • placenta: 18 nTPM
  • spinal cord: 16 nTPM
  • cerebellum: 15 nTPM

Single-cell type

  • epicardial cells: 134 nCPM
  • cardiomyocytes: 119 nCPM
  • oligodendrocytes: 103 nCPM
  • esophageal apical cells: 94 nCPM
  • rod photoreceptor cells: 89 nCPM
  • adipocytes: 80 nCPM

Immune cell

  • plasmacytoid DC: 9.1 nTPM
  • myeloid DC: 8.9 nTPM
  • T-reg: 6.8 nTPM
  • memory B-cell: 6.7 nTPM
  • classical monocyte: 5.9 nTPM
  • intermediate monocyte: 5.9 nTPM

Brain region

  • white matter: 31 nTPM
  • cerebellum: 29 nTPM
  • medulla oblongata: 28 nTPM
  • pons: 28 nTPM
  • hypothalamus: 28 nTPM
  • cerebral cortex: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RNF170.

Disease | AllUniProt

Conditions RNF170 is implicated in, by any mechanism.

  • Ataxia, sensory, 1, autosomal dominant (SNAX1) MIM:608984
  • Spastic paraplegia 85, autosomal recessive (SPG85) MIM:619686

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 64 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.52
gnomAD pLI
0.51
gnomAD missense Z
1.42
DepMap mean gene effect
0
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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 RNF170 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 RNF170 as an antibody target. Whether an autoantibody or antibody against RNF170 could matter depends on whether native RNF170 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RNF170 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 RNF170 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RNF170. 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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