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

    Gene ID: 84816, updated on 10-Dec-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (106570771..106630491, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (107746918..107806978, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. RTN4IP1 is down-regulated in thyroid cancer and has tumor-suppressive function. Rahbari R, et al. J Clin Endocrinol Metab, 2013 Mar. PMID 23393170, Free PMC Article
    3. 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
    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. 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

    See all (40) 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 NADPH dehydrogenase (quinone) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    involved_in ubiquinone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP 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_2024_08

    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

      UniProtKB/TrEMBL
      B2R9Y1

    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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