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Aliases for RTN4IP1 Gene

Aliases for RTN4IP1 Gene

  • Reticulon 4 Interacting Protein 1 2 3 5
  • NOGO-Interacting Mitochondrial Protein 3 4
  • NIMP 3 4
  • Reticulon-4-Interacting Protein 1, Mitochondrial 3
  • OPA10 3

External Ids for RTN4IP1 Gene

Previous GeneCards Identifiers for RTN4IP1 Gene

  • GC06M106855
  • GC06M107041
  • GC06M107065
  • GC06M107126
  • GC06M104468

Summaries for RTN4IP1 Gene

Entrez Gene Summary for RTN4IP1 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, mental retardation, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for RTN4IP1 Gene

RTN4IP1 (Reticulon 4 Interacting Protein 1) is a Protein Coding gene. Diseases associated with RTN4IP1 include Optic Atrophy 10 With Or Without Ataxia, Mental Retardation And Seizures and Autosomal Recessive Isolated Optic Atrophy. GO annotations related to this gene include oxidoreductase activity and transferase activity, transferring acyl groups other than amino-acyl groups.

UniProtKB/Swiss-Prot for RTN4IP1 Gene

  • Plays a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve. Appears to be a potent inhibitor of regeneration following spinal cord injury.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RTN4IP1 Gene

Genomics for RTN4IP1 Gene

Regulatory Elements for RTN4IP1 Gene

Enhancers for RTN4IP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G106574 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +55.5 55505 1.3 SOX13 JUN FEZF1 FOSL1 CTBP1 GATA3 FOSL2 FOS MAFK EZH2 QRSL1 RTN4IP1 PRDM1 GC06P106588 GC06P106541
GH06G106561 1.2 Ensembl ENCODE dbSUPER 10.1 +68.4 68414 2.2 JUN CEBPG ZNF644 RCOR1 FOSL2 FOS ZNF652 TCF7L2 SMARCC1 CEBPB QRSL1 RTN4IP1 GC06P106541 GC06P106588
GH06G106557 1 ENCODE dbSUPER 10 +72.3 72297 1.5 ELF3 SOX13 PKNOX1 FOXA2 SAP130 ZNF384 CEBPG TEAD3 NCOR1 NR2F6 QRSL1 RTN4IP1 GC06P106541 GC06P106588
GH06G106590 0.9 Ensembl ENCODE dbSUPER 10.8 +38.9 38868 1.8 JUND SCRT2 QRSL1 RTN4IP1 MIR587 LOC100422737 GC06P106588 GC06P106608
GH06G106501 0.9 Ensembl ENCODE dbSUPER 9.7 +128.1 128100 2.0 ZBTB48 FOS QRSL1 CRYBG1 RTN4IP1 LOC101927405 GC06P106528
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RTN4IP1 on UCSC Golden Path with GeneCards custom track

Promoters for RTN4IP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200653 900 2001 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 FOS KLF13

Genomic Location for RTN4IP1 Gene

Chromosome:
6
Start:
106,571,028 bp from pter
End:
106,630,500 bp from pter
Size:
59,473 bases
Orientation:
Minus strand

Genomic View for RTN4IP1 Gene

Genes around RTN4IP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RTN4IP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RTN4IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RTN4IP1 Gene

Proteins for RTN4IP1 Gene

  • Protein details for RTN4IP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWV3-RT4I1_HUMAN
    Recommended name:
    Reticulon-4-interacting protein 1, mitochondrial
    Protein Accession:
    Q8WWV3
    Secondary Accessions:
    • Q8N9B3
    • Q8WZ66
    • Q9BRA4

    Protein attributes for RTN4IP1 Gene

    Size:
    396 amino acids
    Molecular mass:
    43590 Da
    Quaternary structure:
    • Interacts with RTN4, UQCRC1 and UQCRC2.

    Three dimensional structures from OCA and Proteopedia for RTN4IP1 Gene

    Alternative splice isoforms for RTN4IP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RTN4IP1 Gene

Post-translational modifications for RTN4IP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RTN4IP1 Gene

No data available for DME Specific Peptides for RTN4IP1 Gene

Domains & Families for RTN4IP1 Gene

Suggested Antigen Peptide Sequences for RTN4IP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WWV3

UniProtKB/Swiss-Prot:

RT4I1_HUMAN :
  • Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
Family:
  • Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
genes like me logo Genes that share domains with RTN4IP1: view

No data available for Gene Families for RTN4IP1 Gene

Function for RTN4IP1 Gene

Molecular function for RTN4IP1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve. Appears to be a potent inhibitor of regeneration following spinal cord injury.

Gene Ontology (GO) - Molecular Function for RTN4IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with RTN4IP1: view
genes like me logo Genes that share phenotypes with RTN4IP1: view

Human Phenotype Ontology for RTN4IP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for RTN4IP1

CRISPR Products

miRNA for RTN4IP1 Gene

miRTarBase miRNAs that target RTN4IP1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RTN4IP1 Gene

Localization for RTN4IP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RTN4IP1 Gene

Mitochondrion outer membrane. Note=Colocalizes with the endoplasmic reticulum HSPA5 at spots corresponding to contacts with mitochondria. {ECO:0000269 PubMed:26593267}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RTN4IP1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RTN4IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005741 mitochondrial outer membrane IEA,IDA 26593267
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RTN4IP1: view

Pathways & Interactions for RTN4IP1 Gene

SuperPathways for RTN4IP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RTN4IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IEA --
GO:0050773 regulation of dendrite development ISS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with RTN4IP1: view

No data available for Pathways by source and SIGNOR curated interactions for RTN4IP1 Gene

Drugs & Compounds for RTN4IP1 Gene

(1) Drugs for RTN4IP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved Pharma 0

(5) Additional Compounds for RTN4IP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Butanol
  • 1-Butanol
  • 1-Butyl alcohol
  • Butanol
  • Butyl alcohol
  • Butyl hydroxide
71-36-3
1-Hexanol
  • 1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Alcohol C-6
  • Alcohol(C6)
111-27-3
1-Pentanol
  • 1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Alcool amylique (french)
71-41-0
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl propanol
  • 2-Methyl-1-propanol
  • 2-Methyl-1-propanyl alcohol
  • 2-Methylpropan-1-ol
78-83-1
Propyl alcohol
  • 1-Hydroxypropane
  • 1-Propanol
  • 1-Propyl alcohol
  • Ethylcarbinol
  • Hydroxypropane
71-23-8
genes like me logo Genes that share compounds with RTN4IP1: view

Transcripts for RTN4IP1 Gene

Unigene Clusters for RTN4IP1 Gene

Reticulon 4 interacting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RTN4IP1 Gene

No ASD Table

Relevant External Links for RTN4IP1 Gene

GeneLoc Exon Structure for
RTN4IP1
ECgene alternative splicing isoforms for
RTN4IP1

Expression for RTN4IP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RTN4IP1 Gene

Protein differential expression in normal tissues from HIPED for RTN4IP1 Gene

This gene is overexpressed in Stomach (8.3), Peripheral blood mononuclear cells (8.3), Lymph node (8.1), Tonsil (7.6), Heart (7.1), and Plasma (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RTN4IP1 Gene



Protein tissue co-expression partners for RTN4IP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RTN4IP1 Gene:

RTN4IP1

SOURCE GeneReport for Unigene cluster for RTN4IP1 Gene:

Hs.155839

mRNA Expression by UniProt/SwissProt for RTN4IP1 Gene:

Q8WWV3-RT4I1_HUMAN
Tissue specificity: Widely expressed in mitochondria-enriched tissues. Found in heart, muscle, kidney, liver, brain and placenta.

Evidence on tissue expression from TISSUES for RTN4IP1 Gene

  • Nervous system(4.3)
  • Blood(2)
genes like me logo Genes that share expression patterns with RTN4IP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RTN4IP1 Gene

Orthologs for RTN4IP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RTN4IP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RTN4IP1 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia RTN4IP1 34 35
  • 90.66 (n)
cow
(Bos Taurus)
Mammalia RTN4IP1 34 35
  • 90.4 (n)
mouse
(Mus musculus)
Mammalia Rtn4ip1 34 16 35
  • 88.13 (n)
rat
(Rattus norvegicus)
Mammalia Rtn4ip1 34
  • 86.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RTN4IP1 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RTN4IP1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves RTN4IP1 34 35
  • 74.48 (n)
lizard
(Anolis carolinensis)
Reptilia RTN4IP1 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rtn4ip1 34
  • 71.2 (n)
Str.1966 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16364 34
zebrafish
(Danio rerio)
Actinopterygii rtn4ip1 34 35
  • 69.21 (n)
zgc63964 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4857 34
fruit fly
(Drosophila melanogaster)
Insecta CG17221 36 34 35
  • 48.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009178 34
  • 47.44 (n)
worm
(Caenorhabditis elegans)
Secernentea rad-8 34 35
  • 48.07 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YIM1 35 37
  • 23 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G15090 34
  • 48.13 (n)
rice
(Oryza sativa)
Liliopsida Os01g0753100 34
  • 46.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToOne
Species where no ortholog for RTN4IP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RTN4IP1 Gene

ENSEMBL:
Gene Tree for RTN4IP1 (if available)
TreeFam:
Gene Tree for RTN4IP1 (if available)

Paralogs for RTN4IP1 Gene

(1) SIMAP similar genes for RTN4IP1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for RTN4IP1 Gene

genes like me logo Genes that share paralogs with RTN4IP1: view

No data available for Paralogs for RTN4IP1 Gene

Variants for RTN4IP1 Gene

Sequence variations from dbSNP and Humsavar for RTN4IP1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs372054380 Pathogenic, Optic atrophy 10 with or without ataxia, mental retardation, and seizures (OPA10) [MIM:616732] 106,622,936(+) GATCA(C/T)GCTTC nc-transcript-variant, reference, missense
rs200457692 Pathogenic 106,619,221(+) ATTCT(A/C/T)GTCAT nc-transcript-variant, reference, missense, stop-gained
rs1000034558 -- 106,615,306(+) CCCAA(C/T)GTTTT intron-variant
rs1000125109 -- 106,565,730(+) GCTCC(C/T)TCACC intron-variant
rs1000192478 -- 106,626,361(+) AAAAC(A/C)ACTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RTN4IP1 Gene

Variant ID Type Subtype PubMed ID
esv2499647 CNV insertion 19546169
esv2658148 CNV deletion 23128226
esv2732544 CNV deletion 23290073
esv3610278 CNV loss 21293372
nsv476230 CNV novel sequence insertion 20440878

Variation tolerance for RTN4IP1 Gene

Residual Variation Intolerance Score: 73.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RTN4IP1 Gene

Human Gene Mutation Database (HGMD)
RTN4IP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RTN4IP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RTN4IP1 Gene

Disorders for RTN4IP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RTN4IP1 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
optic atrophy 10 with or without ataxia, mental retardation and seizures
  • optic atrophy 10 with or without ataxia, mental retardation, and seizures
autosomal recessive isolated optic atrophy
spinal cord injury
  • spinal cord injuries
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RT4I1_HUMAN
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures (OPA10) [MIM:616732]: An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA10 patients may also manifest mild ataxia, mild mental retardation and, rarely, generalized seizures. {ECO:0000269 PubMed:26593267}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RTN4IP1

Genetic Association Database (GAD)
RTN4IP1
Human Genome Epidemiology (HuGE) Navigator
RTN4IP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RTN4IP1
genes like me logo Genes that share disorders with RTN4IP1: view

No data available for Genatlas for RTN4IP1 Gene

Publications for RTN4IP1 Gene

  1. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. (PMID: 26593267) Angebault C. … Lenaers G. (Am. J. Hum. Genet. 2015) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for RTN4IP1 Gene

Sources for RTN4IP1 Gene

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