LOCUS       NM_138773               4745 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens solute carrier family 25 member 46 (SLC25A46),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_138773
VERSION     NM_138773.4
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 4745)
  AUTHORS   Schuettpelz,J., Janer,A., Antonicka,H. and Shoubridge,E.A.
  TITLE     The role of the mitochondrial outer membrane protein SLC25A46 in
            mitochondrial fission and fusion
  JOURNAL   Life Sci Alliance 6 (6), e202301914 (2023)
   PUBMED   36977595
  REMARK    GeneRIF: The role of the mitochondrial outer membrane protein
            SLC25A46 in mitochondrial fission and fusion.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4745)
  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   3  (bases 1 to 4745)
  AUTHORS   Bitetto,G., Malaguti,M.C., Ceravolo,R., Monfrini,E., Straniero,L.,
            Morini,A., Di Giacopo,R., Frosini,D., Palermo,G., Biella,F.,
            Ronchi,D., Duga,S., Taroni,F., Corti,S., Comi,G.P., Bresolin,N.,
            Giometto,B. and Di Fonzo,A.
  TITLE     SLC25A46 mutations in patients with Parkinson's Disease and optic
            atrophy
  JOURNAL   Parkinsonism Relat Disord 74, 1-5 (2020)
   PUBMED   32259769
  REMARK    GeneRIF: SLC25A46 mutations in patients with Parkinson's Disease
            and optic atrophy.
REFERENCE   4  (bases 1 to 4745)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 4745)
  AUTHORS   Braunisch,M.C., Gallwitz,H., Abicht,A., Diebold,I.,
            Holinski-Feder,E., Van Maldergem,L., Lammens,M., Kovacs-Nagy,R.,
            Alhaddad,B., Strom,T.M., Meitinger,T., Senderek,J.,
            Rudnik-Schoneborn,S. and Haack,T.B.
  TITLE     Extension of the phenotype of biallelic loss-of-function mutations
            in SLC25A46 to the severe form of pontocerebellar hypoplasia type I
  JOURNAL   Clin Genet 93 (2), 255-265 (2018)
   PUBMED   28653766
  REMARK    GeneRIF: Using exome sequencing, we identified biallelic
            disease-segregating loss-of-function mutations in SLC25A46 in both
            families. Our study adds to the definition of the
            SLC25A46-associated phenotypic spectrum that includes neonatal
            fatalities due to pontocerebellar hypoplasia as the severe extreme.
REFERENCE   6  (bases 1 to 4745)
  AUTHORS   Gao,J., Ma,Y., Sheng,Y., Zuo,X., Wang,W., Zheng,X., Tang,H.,
            Tang,X., Zhou,F., Yang,S., Zhang,X. and Sun,L.
  TITLE     Association analysis of allergic sensitization susceptibility loci
            with atopic dermatitis in Chinese population
  JOURNAL   J Dermatol Sci 80 (3), 217-220 (2015)
   PUBMED   26464032
  REMARK    GeneRIF: The rs10056340 single nucleotide polymorphism was
            significantly associated with atopic dermatitis.
REFERENCE   7  (bases 1 to 4745)
  AUTHORS   Abrams,A.J., Hufnagel,R.B., Rebelo,A., Zanna,C., Patel,N.,
            Gonzalez,M.A., Campeanu,I.J., Griffin,L.B., Groenewald,S.,
            Strickland,A.V., Tao,F., Speziani,F., Abreu,L., Schule,R.,
            Caporali,L., La Morgia,C., Maresca,A., Liguori,R., Lodi,R.,
            Ahmed,Z.M., Sund,K.L., Wang,X., Krueger,L.A., Peng,Y., Prada,C.E.,
            Prows,C.A., Schorry,E.K., Antonellis,A., Zimmerman,H.H.,
            Abdul-Rahman,O.A., Yang,Y., Downes,S.M., Prince,J., Fontanesi,F.,
            Barrientos,A., Nemeth,A.H., Carelli,V., Huang,T., Zuchner,S. and
            Dallman,J.E.
  TITLE     Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic
            atrophy spectrum disorder
  JOURNAL   Nat Genet 47 (8), 926-932 (2015)
   PUBMED   26168012
  REMARK    GeneRIF: Data indicate four families with recessive mutations in
            solute carrier family 25 member 46 protein (SLC25A46).
REFERENCE   8  (bases 1 to 4745)
  AUTHORS   Palmieri,F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information.
            Review article
REFERENCE   9  (bases 1 to 4745)
  AUTHORS   Haitina,T., Lindblom,J., Renstrom,T. and Fredriksson,R.
  TITLE     Fourteen novel human members of mitochondrial solute carrier family
            25 (SLC25) widely expressed in the central nervous system
  JOURNAL   Genomics 88 (6), 779-790 (2006)
   PUBMED   16949250
REFERENCE   10 (bases 1 to 4745)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA713164.1, AK290217.1,
            BC017169.1 and AC008650.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_138773.3.
            
            Summary: This gene encodes a mitochondrial solute carrier protein
            family member. It functions in promoting mitochondrial fission, and
            prevents the formation of hyperfilamentous mitochondria. Mutation
            of this gene results in neuropathy and optic atrophy. [provided by
            RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR1660803.107181.1,
                                           SRR1660807.223771.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355943.8/ ENSP00000348211.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-112               DA713164.1         14-125
            113-1710            AK290217.1         1-1598
            1711-2372           BC017169.1         1665-2326
            2373-4745           AC008650.8         131062-133434
FEATURES             Location/Qualifiers
     source          1..4745
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.1"
     gene            1..4745
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /note="solute carrier family 25 member 46"
                     /db_xref="GeneID:91137"
                     /db_xref="HGNC:HGNC:25198"
                     /db_xref="MIM:610826"
     exon            1..396
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1370
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mitochondrial outer membrane protein SLC25A46"
                     /codon_start=1
                     /product="mitochondrial outer membrane protein SLC25A46
                     isoform 1"
                     /protein_id="NP_620128.1"
                     /db_xref="CCDS:CCDS4100.1"
                     /db_xref="GeneID:91137"
                     /db_xref="HGNC:HGNC:25198"
                     /db_xref="MIM:610826"
                     /translation="MHPRRPDGFDGLGYRGGARDEQGFGGAFPARSFSTGSDLGHWVT
                     TPPDIPGSRNLHWGEKSPPYGVPTTSTPYEGPTEEPFSSGGGGSVQGQSSEQLNRFAG
                     FGIGLASLFTENVLAHPCIVLRRQCQVNYHAQHYHLTPFTVINIMYSFNKTQGPRALW
                     KGMGSTFIVQGVTLGAEGIISEFTPLPREVLHKWSPKQIGEHLLLKSLTYVVAMPFYS
                     ASLIETVQSEIIRDNTGILECVKEGIGRVIGMGVPHSKRLLPLLSLIFPTVLHGVLHY
                     IISSVIQKFVLLILKRKTYNSHLAESTSPVQSMLDAYFPELIANFAASLCSDVILYPL
                     ETVLHRLHIQGTRTIIDNTDLGYEVLPINTQYEGMRDCINTIRQEEGVFGFYKGFGAV
                     IIQYTLHAAVLQITKIIYSTLLQNNI"
     exon            397..439
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /inference="alignment:Splign:2.1.0"
     exon            440..497
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /inference="alignment:Splign:2.1.0"
     exon            498..575
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /inference="alignment:Splign:2.1.0"
     exon            576..676
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /inference="alignment:Splign:2.1.0"
     exon            677..733
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /inference="alignment:Splign:2.1.0"
     exon            734..791
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /inference="alignment:Splign:2.1.0"
     exon            792..4745
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2354..2359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /note="hexamer: ATTAAA"
     polyA_site      2372
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /note="major polyA site"
     regulatory      4727..4732
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /note="hexamer: AATAAA"
     polyA_site      4745
                     /gene="SLC25A46"
                     /gene_synonym="HMSN6B; PCH1E"
                     /note="major polyA site"
ORIGIN      
        1 agaatttacc cctgacgcgg cggcggccga cgggaagctg tgtgtgctta ggtcgtggtg
       61 gccccggtgg tggtgggctc cgggcgggct cgcgtcatcc tgcccccgct gcgatgcatc
      121 cgcggcgccc ggacggattt gatggcttgg gctaccgggg tggtgcccgg gacgagcagg
      181 gctttggcgg cgccttccct gcaaggtcct tcagcaccgg gtcggacctg ggccactggg
      241 tgacgactcc cccagatatc cccggcagcc gcaacctgca ctggggcgag aagagcccgc
      301 cctacggcgt gcccaccacc tccaccccgt acgaaggccc cacggaggaa cccttttcca
      361 gtggcggcgg cggcagtgtg caggggcaga gcagtgaaca gctgaataga tttgctggat
      421 ttggtattgg acttgcaagt ctctttacag aaaatgtatt ggcacatcct tgcattgttc
      481 tacgccgcca atgtcaggtt aattaccatg ctcagcatta ccatctcact ccatttacag
      541 tcatcaatat tatgtacagt ttcaacaaaa ctcagggacc tagagccctg tggaaaggaa
      601 tgggaagtac atttattgtc cagggagtca cacttggagc agaaggcata attagtgaat
      661 ttacaccttt gccaagggag gttttacata aatggagtcc taaacaaata ggagaacacc
      721 ttctactgaa atccctaact tacgtggtgg caatgccttt ttattcagca agtctgattg
      781 aaacagtgca gagtgagata attcgagata atactggcat tttggagtgt gttaaagaag
      841 gaattggaag agtgataggc atgggagtgc ctcatagcaa acgacttctt ccgcttcttt
      901 ccttgatctt ccctacggtg cttcatggag ttcttcatta catcatcagc tcagttattc
      961 agaagtttgt cctactaatt ctaaagagaa agacttacaa tagccaccta gctgagagca
     1021 ctagccctgt gcagagtatg ttggatgctt attttccaga acttattgct aactttgctg
     1081 ccagtctttg ttctgacgtt atactttacc cattggaaac agttttgcac cgccttcaca
     1141 ttcaaggaac acgcacaata attgacaata cagaccttgg ctatgaagtg cttccaatta
     1201 atacacaata tgagggaatg agagactgta tcaataccat aaggcaggag gaaggagtgt
     1261 ttggttttta taaagggttt ggtgctgtta taatacagta cacactgcat gcagctgttt
     1321 tacagattac caaaattatt tactctacac ttcttcaaaa taacatttga gatttaggtt
     1381 ccttcactga gtagtctgga agatataatc tggataattt gctatgaagt tatgagggat
     1441 acaagtgaaa tactggggaa gaaaatggat tggaaagtaa aattggtact aaagcccata
     1501 ctgattatct tgactttgtt ttttaaggca taggtatata ttttggatca aaatccttcc
     1561 aaatttgaaa actcaataaa aataacactt attaaattct agttagtgta gcactcatgc
     1621 tgaagtaaac atgatcgtag gcagaagcaa aattttatta taaaatctaa aacaaaactt
     1681 tatagagttg aatctattcc atctgacttc aatatttgcc aaacgtttat tttacctcct
     1741 agattgatgt tggtatagta tccttaatac agtgtagtat attaatgtcc ttaatacaat
     1801 caggaggttt ttacctttaa gcaaataaat tatgtcatta ttgaaaaaga cttaagggat
     1861 gattagactt ggcaatctgt aagcaggagt ataaatgttt taaattgcat tgtccctatg
     1921 taactatctt aatggctata tatatgtatt ttataaagcc atttatgtat acacatgtaa
     1981 cttggaattt ccttcatccc tacacatttt ctacacttac atcaccttat tgcataaaac
     2041 aaagtcacgc gctttctgct tgaacatcaa aatatcaaaa accaaggtac ccaaaagata
     2101 caagtcagag acaacatcct tgtccatatc caaacccagt gtttcagtgc tagcaactta
     2161 atttctcata catttataga gtttggtttg ctttgctagt tgtgtgaatc attgggctgt
     2221 ttttagagcc actgttaaga gagaatataa aataatcatg acaattacta ctgtttccac
     2281 atttacaaat tgtgtactta aatgaacctc atttcccttt tatttctgaa tggcttgtct
     2341 gagaggaaac aaaattaaaa ttcatctggg aatttgtgcc tcttgtctag tatatagtca
     2401 ccactaaata atggcttccg tttttatttt ctttcaggtt ttgctttaaa ttttgttttc
     2461 caaaatagat gtacgtggag ggaaaagcaa ttattcttat caccttttat ttaaacttct
     2521 ttagatgaat actgaagaaa aatccaaacc ttaaaggaaa tgtgcccttg tattttatgg
     2581 gtgaggggaa aaagtacatt tgtacatttc aacatataat aagcaaaaaa attactaatc
     2641 agtttaataa aaacattttg tctattccta aatgtaattt ggtgggttaa gcactttgtg
     2701 tagtaaaatg atatgtgtct gctctatcat tagacatttt aaagtttcat gtcttcacgt
     2761 gaataatcac agttgtatca tgaaccattt agcgctctga agcacagtga ctttgcactg
     2821 atattgtcca accaagaatg catacgaata gaaattcatt ttacttgcta aatgtcacag
     2881 aaatggttac tttttgcaaa tagtagtgtt ggaacaaaaa agtgatatcc aaaaagtgta
     2941 aaaacagtaa taagtagcaa atctctcgtg tgtgtgtgtg tgtagttact gaaacaccta
     3001 cattttccat ttttaaattc caccaaaagg gggaaaataa aattaaacac cactgatcac
     3061 attttatatt ttatggtgac tattttagat taaggtttac tttgtccaac caatagcatt
     3121 taaattgttt tcaattagga tagtttcaga taagagtaaa ccagaaaatt tcaagtttga
     3181 aaaatttcta gaaaagaatc tgaatagaat caagtattta ctagtgaaaa tctgtaggat
     3241 cctttgttta gctaaaaatt aaatatttca ggatattttt tggaagttag catgaaaata
     3301 gttagttaca taaattcatt ttattgtaga ataattataa gactgatagg ctgaaccata
     3361 cacaaataag gttgatcttg ttttcctttt tggagaaaga gaatacaaat taacattaaa
     3421 attgaaatgt agaaagtaaa atatgaataa ttttttacaa ccactccaaa ttagttgaaa
     3481 caaaatcttg aacggtcacg cacttaaatt taagctagcc aaatatgttg cactgaattt
     3541 tgaaaagaat gagtgagata actgtaagat acgctcgttc ccttttaaaa attgttattt
     3601 ttctttaaca tgggtgccaa atcaaatatc catgggctat acttcttaag ataataacag
     3661 ctcaaaataa tattttttaa ttcagtagaa ctaatagcat tatggaaaag attctattaa
     3721 atgttccaca ggcccactgg tcctcttata taagccaaat tttggccatg gagcttgtga
     3781 tacacttgcc ttacattgta gggtttctta atttgagtca agtacactga aagcaattaa
     3841 aaactggtaa atattaattt actatgtaaa gtgaacttac gaattaactt actaaataca
     3901 tatatgtaga ccttcccgaa atgccattct caattttatt ttatgggctc caaaaaaaat
     3961 tatctgggtt aataaggtta tctattaaag cccccagaat ctcagcacta gatgtcataa
     4021 atatgaaata gtaaaaacaa ggtcacttga aaatgggtat ttaatacctt agctggtgtt
     4081 ttcagaagca tacagaactg gaaaggtaag aacttgctta ctattgcaga tatacctgac
     4141 cactcacaac tgtcttttta gcagcagctt tgttaaaact gcacaaagca ttcactttat
     4201 tgattgagta caaatgcttt agtgtttcta cctaagtatt agtacatctg ttcaggaaat
     4261 ggaaaaaaaa aatgctgctt aaatttgttt tatcagctga ggttgtggag gatttttgtc
     4321 cactgatctt ttgcaacaga aaagcatact ttgtcagctt ctaataagat agccaggttt
     4381 gaattatttg caaaatttat ataagcaaat aagatctctt ggtaacaatt gacattgcac
     4441 tagaatttga atgatactgt tgttggcatt tctgtttctc tttcaagtag ttgtaaataa
     4501 tctctttttc tcatataaac ggaatgcata atgtcttact cttgagtcat ttagtatcat
     4561 tgatatggta ccaagttgta tagcagagta acaaaatcat gatttgacaa tgaaatttac
     4621 atattgcctc acctagagat gttttgtctg tatgactttt ttttttttaa gtttgtctta
     4681 ctgttacttt aaatgttttg ggtaaattgt gtaatatgaa aagttcaata aaatgtcgaa
     4741 ataaa
//
