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RTN4IP1 reticulon 4 interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 84816, updated on 3-Apr-2024

Summary

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Official Symbol
RTN4IP1provided by HGNC
Official Full Name
reticulon 4 interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:18647
See related
Ensembl:ENSG00000130347 MIM:610502; AllianceGenome:HGNC:18647
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NIMP; OPA10
Summary
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]
Expression
Ubiquitous expression in skin (RPKM 10.5), placenta (RPKM 7.8) and 24 other tissues See more
Orthologs
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Genomic context

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See RTN4IP1 in Genome Data Viewer
Location:
6q21
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (106570771..106630491, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (107746918..107806978, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (107018646..107078366, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene crystallin beta-gamma domain containing 1 Neighboring gene uncharacterized LOC105377924 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:106908781-106909430 Neighboring gene uncharacterized LOC101927405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:106957727-106958332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:106959060-106960018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17433 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:106967140-106968339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:107023180-107023700 Neighboring gene MPRA-validated peak6003 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr6:107033226-107033920 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:107061294-107061801 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:107062309-107062815 Neighboring gene RNA, U6 small nuclear 527, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24893 Neighboring gene ribosomal protein L21 pseudogene 65 Neighboring gene glutaminyl-tRNA amidotransferase subunit QRSL1 Neighboring gene long intergenic non-protein coding RNA 2526

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families. Aldosary M, et al. Cells, 2022 Oct 7. PMID 36231115, Free PMC Article
  2. A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY. Meunier I, et al. Retina, 2021 Aug 1. PMID 33315831, Free PMC Article
  3. Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype. Rajabian F, et al. J Neuroophthalmol, 2021 Sep 1. PMID 33136666
  4. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. D'Gama AM, et al. Am J Med Genet A, 2021 Jan. PMID 33037779, Free PMC Article
  5. Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. Charif M, et al. JAMA Neurol, 2018 Jan 1. PMID 29181510, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
    Title: A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
  2. Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
    Title: Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
  3. A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
    Title: A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
  4. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
    Title: Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
  5. This study showed that large spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathy, can be associated with biallelic mutations in RTN4IP1.
    Title: Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
  6. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
    Title: Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
  7. RTN4IP1 has a tumor-suppressive function and may regulate thyroid cancer progression.
    Title: RTN4IP1 is down-regulated in thyroid cancer and has tumor-suppressive function.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
MedGen: C4225227 OMIM: 616732 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC12934

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of dendrite development ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
reticulon-4-interacting protein 1, mitochondrial
Names
NOGO-interacting mitochondrial protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047205.1 RefSeqGene

    Range
    6003..64730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318746.1 → NP_001305675.1  reticulon-4-interacting protein 1, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks aportion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK095207, AL390074, BC006399
    UniProtKB/TrEMBL
    B2R9Y1
    Conserved Domains (1) summary
    cd08248
    Location:1 → 294
    RTN4I1; Human Reticulon 4 Interacting Protein 1

  2. NM_032730.5 → NP_116119.2  reticulon-4-interacting protein 1, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_116119.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK095207, AL390074, BC006399
    Consensus CDS
    CCDS5056.1
    UniProtKB/Swiss-Prot
    Q8N9B3, Q8WWV3, Q8WZ66, Q9BRA4
    UniProtKB/TrEMBL
    Q96RL8
    Related
    ENSP00000358059.3, ENST00000369063.8
    Conserved Domains (1) summary
    cd08248
    Location:43 → 394
    RTN4I1; Human Reticulon 4 Interacting Protein 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    106570771..106630491 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536192.3 → XP_011534494.1  reticulon-4-interacting protein 1, mitochondrial isoform X1

    UniProtKB/TrEMBL
    B2R9Y1
    Conserved Domains (2) summary
    cd08248
    Location:12 → 314
    RTN4I1; Human Reticulon 4 Interacting Protein 1
    smart00829
    Location:16 → 313
    PKS_ER; Enoylreductase

  2. XM_017011376.3 → XP_016866865.1  reticulon-4-interacting protein 1, mitochondrial isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    107746918..107806978 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356583.1 → XP_054212558.1  reticulon-4-interacting protein 1, mitochondrial isoform X1

  2. XM_054356584.1 → XP_054212559.1  reticulon-4-interacting protein 1, mitochondrial isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WWV3.2 GenPept UniProtKB/Swiss-Prot:Q8WWV3

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