LOCUS       NM_032730               2893 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens reticulon 4 interacting protein 1 (RTN4IP1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_032730
VERSION     NM_032730.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2893)
  AUTHORS   Park,I., Kim,K.E., Kim,J., Kim,A.K., Bae,S., Jung,M., Choi,J.,
            Mishra,P.K., Kim,T.M., Kwak,C., Kang,M.G., Yoo,C.M., Mun,J.Y.,
            Liu,K.H., Lee,K.S., Kim,J.S., Suh,J.M. and Rhee,H.W.
  TITLE     Mitochondrial matrix RTN4IP1/OPA10 is an oxidoreductase for
            coenzyme Q synthesis
  JOURNAL   Nat Chem Biol 20 (2), 221-233 (2024)
   PUBMED   37884807
REFERENCE   2  (bases 1 to 2893)
  AUTHORS   Aldosary,M., Alsagob,M., AlQudairy,H., Gonzalez-Alvarez,A.C.,
            Arold,S.T., Dababo,M.A., Alharbi,O.A., Almass,R., AlBakheet,A.,
            AlSarar,D., Qari,A., Al-Ansari,M.M., Olahova,M., Al-Shahrani,S.A.,
            AlSayed,M., Colak,D., Taylor,R.W., AlOwain,M. and Kaya,N.
  TITLE     A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous
            Saudi Families
  JOURNAL   Cells 11 (19), 3154 (2022)
   PUBMED   36231115
  REMARK    GeneRIF: A Novel Homozygous Founder Variant of RTN4IP1 in Two
            Consanguineous Saudi Families.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2893)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 2893)
  AUTHORS   Rajabian,F., Manitto,M.P., Palombo,F., Caporali,L., Grazioli,A.,
            Starace,V., Arrigo,A., Cascavilla,M.L., La Morgia,C., Barboni,P.,
            Bandello,F., Carelli,V. and Battaglia Parodi,M.
  TITLE     Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1
            (Optic Atrophy 10) Phenotype
  JOURNAL   J Neuroophthalmol 41 (3), e290-e292 (2021)
   PUBMED   33136666
  REMARK    GeneRIF: Combined Optic Atrophy and Rod-Cone Dystrophy Expands the
            RTN4IP1 (Optic Atrophy 10) Phenotype.
REFERENCE   5  (bases 1 to 2893)
  AUTHORS   Meunier,I., Bocquet,B., Charif,M., Dhaenens,C.M., Manes,G.,
            Amati-Bonneau,P., Roubertie,A., Zanlonghi,X. and Lenaers,G.
  TITLE     A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1
            RECESSIVE OPTIC ATROPHY
  JOURNAL   Retina 41 (8), 1771-1779 (2021)
   PUBMED   33315831
  REMARK    GeneRIF: A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE
            RTN4IP1 RECESSIVE OPTIC ATROPHY.
REFERENCE   6  (bases 1 to 2893)
  AUTHORS   Charif,M., Nasca,A., Thompson,K., Gerber,S., Makowski,C.,
            Mazaheri,N., Bris,C., Goudenege,D., Legati,A., Maroofian,R.,
            Shariati,G., Lamantea,E., Hopton,S., Ardissone,A., Moroni,I.,
            Giannotta,M., Siegel,C., Strom,T.M., Prokisch,H.,
            Vignal-Clermont,C., Derrien,S., Zanlonghi,X., Kaplan,J.,
            Hamel,C.P., Leruez,S., Procaccio,V., Bonneau,D., Reynier,P.,
            White,F.E., Hardy,S.A., Barbosa,I.A., Simpson,M.A., Vara,R.,
            Perdomo Trujillo,Y., Galehdari,H., Deshpande,C., Haack,T.B.,
            Rozet,J.M., Taylor,R.W., Ghezzi,D., Amati-Bonneau,P. and Lenaers,G.
  TITLE     Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10)
            in Children and Young Adults
  JOURNAL   JAMA Neurol 75 (1), 105-113 (2018)
   PUBMED   29181510
  REMARK    GeneRIF: 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.
REFERENCE   7  (bases 1 to 2893)
  AUTHORS   Angebault,C., Guichet,P.O., Talmat-Amar,Y., Charif,M., Gerber,S.,
            Fares-Taie,L., Gueguen,N., Halloy,F., Moore,D., Amati-Bonneau,P.,
            Manes,G., Hebrard,M., Bocquet,B., Quiles,M., Piro-Megy,C.,
            Teigell,M., Delettre,C., Rossel,M., Meunier,I., Preising,M.,
            Lorenz,B., Carelli,V., Chinnery,P.F., Yu-Wai-Man,P., Kaplan,J.,
            Roubertie,A., Barakat,A., Bonneau,D., Reynier,P., Rozet,J.M.,
            Bomont,P., Hamel,C.P. and Lenaers,G.
  TITLE     Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic
            Neuropathies
  JOURNAL   Am J Hum Genet 97 (5), 754-760 (2015)
   PUBMED   26593267
  REMARK    GeneRIF: Recessive Mutations in RTN4IP1 Cause Isolated and
            Syndromic Optic Neuropathies.
            Erratum:[Am J Hum Genet. 2015 Nov 5;97(5):769]
REFERENCE   8  (bases 1 to 2893)
  AUTHORS   Rahbari,R., Kitano,M., Zhang,L., Bommareddi,S. and Kebebew,E.
  TITLE     RTN4IP1 is down-regulated in thyroid cancer and has
            tumor-suppressive function
  JOURNAL   J Clin Endocrinol Metab 98 (3), E446-E454 (2013)
   PUBMED   23393170
  REMARK    GeneRIF: RTN4IP1 has a tumor-suppressive function and may regulate
            thyroid cancer progression.
REFERENCE   9  (bases 1 to 2893)
  AUTHORS   Domeniconi,M., Cao,Z., Spencer,T., Sivasankaran,R., Wang,K.,
            Nikulina,E., Kimura,N., Cai,H., Deng,K., Gao,Y., He,Z. and
            Filbin,M.
  TITLE     Myelin-associated glycoprotein interacts with the Nogo66 receptor
            to inhibit neurite outgrowth
  JOURNAL   Neuron 35 (2), 283-290 (2002)
   PUBMED   12160746
REFERENCE   10 (bases 1 to 2893)
  AUTHORS   Hu,W.H., Hausmann,O.N., Yan,M.S., Walters,W.M., Wong,P.K. and
            Bethea,J.R.
  TITLE     Identification and characterization of a novel Nogo-interacting
            mitochondrial protein (NIMP)
  JOURNAL   J Neurochem 81 (1), 36-45 (2002)
   PUBMED   12067236
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL390074.17, BC006399.2 and
            AK095207.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 14, 2016 this sequence version replaced NM_032730.4.
            
            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].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.224154.1,
                                           SRR1660805.109960.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000369063.8/
                                                  ENSP00000358059.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-205               AL390074.17        65880-66084
            206-1688            BC006399.2         1-1483
            1689-2118           AL390074.17        123403-123832
            2119-2893           AK095207.1         1533-2307
FEATURES             Location/Qualifiers
     source          1..2893
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     gene            1..2893
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /note="reticulon 4 interacting protein 1"
                     /db_xref="GeneID:84816"
                     /db_xref="HGNC:HGNC:18647"
                     /db_xref="MIM:610502"
     exon            1..751
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /inference="alignment:Splign:2.1.0"
     CDS             478..1668
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; NOGO-interacting mitochondrial protein"
                     /codon_start=1
                     /product="reticulon-4-interacting protein 1, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_116119.2"
                     /db_xref="CCDS:CCDS5056.1"
                     /db_xref="GeneID:84816"
                     /db_xref="HGNC:HGNC:18647"
                     /db_xref="MIM:610502"
                     /translation="MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMP
                     AWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKVHAASVNPIDVNMRSGYGATALNMK
                     RDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVV
                     VSGNEVSHKPKSLTHTQAASLPYVALTAWSAINKVGGLNDKNCTGKRVLILGASGGVG
                     TFAIQVMKAWDAHVTAVCSQDASELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDN
                     VGGSTETWAPDFLKKWSGATYVTLVTPFLLNMDRLGIADGMLQTGVTVGSKALKHFWK
                     GVHYRWAFFMASGPCLDDIAELVDAGKIRPVIEQTFPFSKVPEAFLKVERGHARGKTV
                     INVV"
     exon            752..903
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /inference="alignment:Splign:2.1.0"
     exon            904..972
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1097
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1146
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1283
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1467
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /inference="alignment:Splign:2.1.0"
     exon            1468..1560
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..2893
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1668..1673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /note="hexamer: AATAAA"
     polyA_site      1688
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /note="major polyA site"
     regulatory      1800..1805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
                     /note="hexamer: AATAAA"
     polyA_site      1837
                     /gene="RTN4IP1"
                     /gene_synonym="NIMP; OPA10"
ORIGIN      
        1 gcaaagccat cccggcggct aaggagagcg ggcaggcaag gagattccgg gccagggtcg
       61 cggcggcagt cggcaagcgt tcgattctct ggcgttggat cgcgagcggt gtctgcttgt
      121 cccgccgagg gctcccagga cagggcaggg atctaggggg tttgcgcacc tgctttttaa
      181 tgccccgccc cccctttttt ttttaaagtg gagggggtga aagtgaggga ggagaatgga
      241 cagaatactg actggaacgt taattcgagc atttcatatg cgaagagcgg aataacagtt
      301 ccgtattctt ctttcagttt ctccattaga ttagcttcat tttcgaatgc tccgttttgc
      361 atgcttaatt ttgaaactag cccgtggttt ggcagaattt gactgaattc aggggtgaga
      421 gtttgatcca gtccaagtgt atttgaattt gagcacgcag ttcaaccagt gtttacaatg
      481 gaatttctga agacttgtgt acttagaaga aatgcatgca ctgcggtttg cttctggaga
      541 agcaaagttg tccaaaagcc ttcagttaga aggattagta ctacctctcc taggagcact
      601 gtcatgcctg cttgggtgat agataaatat gggaagaatg aagtgcttcg attcactcag
      661 aacatgatga tgcctatcat acactatcca aatgaagtca ttgtcaaagt tcacgctgcc
      721 agtgtaaatc ctatagacgt taatatgaga agtggttatg gagctacagc tttaaatatg
      781 aagcgtgatc ctttacacgt gaaaatcaaa ggagaagaat ttcctctgac tctgggtcgg
      841 gatgtctctg gcgtggtgat ggaatgtggg cttgatgtga aatacttcaa gcctggagat
      901 gaggtctggg ctgcagttcc tccttggaaa caaggcactc tttcagagtt tgttgtagtc
      961 agtgggaatg aggtctctca caaacccaaa tcactcactc atactcaagc tgcctctttg
     1021 ccatatgtgg ctctcacagc ctggtctgct ataaacaaag ttggtggcct gaatgacaag
     1081 aattgcacag gaaaacgtgt tctaatctta ggcgcttcag gcggagttgg tacttttgct
     1141 atacaggtaa tgaaagcatg ggatgctcat gtgacagcag tttgctccca agatgccagt
     1201 gaacttgtaa ggaagcttgg tgcagacgat gtaattgatt acaaatctgg aagtgtggaa
     1261 gagcagttga aatccttaaa accatttgat tttatccttg ataatgttgg cggatccact
     1321 gaaacatggg ctccagattt tctcaagaaa tggtcaggag ccacctatgt gactttggtg
     1381 actcctttcc tcctgaacat ggaccgattg ggcatagcag atggcatgtt gcagacagga
     1441 gtcactgtag gttcaaaggc attaaagcat ttctggaaag gagtccatta tcgctgggca
     1501 tttttcatgg ccagtggccc atgtttagat gacattgcag aactggtgga tgcgggaaag
     1561 atccggccag ttattgaaca aacctttcct ttttctaaag ttccagaagc cttcctgaag
     1621 gtggaaagag gacacgcacg aggaaagact gtaattaatg ttgtttaaat aaaaatgcag
     1681 tttagtgatt gttgacgttc ttatttggtg agtgcctgtg agcccaaatt tttttctagc
     1741 catccctttc aaacattttt ccagattaga ttatacattc catgatacaa gctttaaaaa
     1801 ataaacacac cattttggcc agtaattgat ataaaaatat cagcacttgg atttgtctgt
     1861 agtcagtaga aattcgaagt tttttcaagc tgttccttca cactggcttt gcaggttgtt
     1921 gtggcacctt ctgttttact agcttaaact actttattgt cttttttgtt ttagagacag
     1981 ggtctcgctg tgtcacccag gctggagtgc agtggcacaa tcacagctca ctgcagcctt
     2041 gaccttaagc gattctcctg cttcagcctc tcaagtaggt aggactacag gtatgcatca
     2101 ccacacccag ctagtttttt tgtattttta gtagagacag ttttgccatg ttgcccaggc
     2161 tggtctcaaa ctcctgggct taagtgatcc accatgtcag tctcccaaag ttctgggatt
     2221 acaggcgtga accaccctgc tgggcctgat cgtcttaatg tacaatacta aaactttcag
     2281 tgtatagatg gatgttggca tgaagagata atttaaagct ggttccttct tgaattcatc
     2341 actgagcagc tttctaactg ccaaggtttc cttttttgtt cctccaccat aatgtggtca
     2401 ccacagctct taaagttcta aatctcttag tgtcatatat aaaaatctgc ctggtgattc
     2461 atttgtttat gctcttaata ttgaaaggtg agagcagagt ttctaacttt ttaaaaccct
     2521 tacatcttgc ataaggatta ggcctgtttc ggcaattgaa acatgcttct ctgagggctt
     2581 ttccatggaa attgcagcct tccaatggag cccaaagctt gccactttga tgtcaaatgt
     2641 ttacatttag atatctctcc aatcaaccca ttgcagtgtg cacttcgaat attcatttac
     2701 ggtaagtgtt tttacttcct aatatactca tcctcagtat tgcacctgat atgcttgctt
     2761 gtaacttttg atgtagacct gttttgagat ttctgcttgg tttattcctg ttagacactc
     2821 gtttggtagc atgtatgtta gatgtaggct tttctctaaa attgttggtc tggtcttact
     2881 accgagttat tgc
//
