Seroatlas · Human Serome Atlas

RTN4IP1

NAD(P)H oxidoreductase RTN4IP1, mitochondrial

Also known as: NIMP, RT4I1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8WWV3
Gene
RTN4IP1
Ensembl
ENSG00000130347
Chromosome
6
Canonical length
396 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, cognitive disability, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

396 residues, UniProt reviewed canonical sequence.

>Q8WWV3|RTN4IP1
     1  MEFLKTCVLR RNACTAVCFW RSKVVQKPSV RRISTTSPRS TVMPAWVIDK YGKNEVLRFT
    61  QNMMMPIIHY PNEVIVKVHA ASVNPIDVNM RSGYGATALN MKRDPLHVKI KGEEFPLTLG
   121  RDVSGVVMEC GLDVKYFKPG DEVWAAVPPW KQGTLSEFVV VSGNEVSHKP KSLTHTQAAS
   181  LPYVALTAWS AINKVGGLND KNCTGKRVLI LGASGGVGTF AIQVMKAWDA HVTAVCSQDA
   241  SELVRKLGAD DVIDYKSGSV EEQLKSLKPF DFILDNVGGS TETWAPDFLK KWSGATYVTL
   301  VTPFLLNMDR LGIADGMLQT GVTVGSKALK HFWKGVHYRW AFFMASGPCL DDIAELVDAG
   361  KIRPVIEQTF PFSKVPEAFL KVERGHARGK TVINVV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RTN4IP1 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
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
15 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 15 nTPM
  • skeletal muscle: 14 nTPM
  • heart muscle: 10 nTPM
  • kidney: 5.9 nTPM
  • rectum: 5.7 nTPM
  • tonsil: 5.7 nTPM

Single-cell type

  • myonuclei: 74 nCPM
  • renal collecting duct intercalated cells: 48 nCPM
  • ependymal cells: 46 nCPM
  • epididymal clear cells: 41 nCPM
  • loop of henle epithelial cells: 39 nCPM
  • thyrotrophs: 35 nCPM

Immune cell

  • naive B-cell: 16 nTPM
  • memory B-cell: 11 nTPM
  • myeloid DC: 11 nTPM
  • T-reg: 8.2 nTPM
  • NK-cell: 6.6 nTPM
  • plasmacytoid DC: 5.6 nTPM

Brain region

  • cerebellum: 8.2 nTPM
  • choroid plexus: 8.1 nTPM
  • white matter: 8.1 nTPM
  • cerebral cortex: 7.6 nTPM
  • basal ganglia: 7.1 nTPM
  • pons: 7.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RTN4IP1.

Disease | AllUniProt

Conditions RTN4IP1 is implicated in, by any mechanism.

  • Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures (OPA10) MIM:616732

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 348 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)
0.94
gnomAD pLI
0
gnomAD missense Z
0.73
DepMap mean gene effect
-0.31
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 RTN4IP1 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 RTN4IP1 as an antibody target. Whether an autoantibody or antibody against RTN4IP1 could matter depends on whether native RTN4IP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RTN4IP1 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 RTN4IP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RTN4IP1. 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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