LOCUS       NM_025152               3040 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NUBP iron-sulfur cluster assembly factor,
            mitochondrial (NUBPL), transcript variant 1, mRNA.
ACCESSION   NM_025152
VERSION     NM_025152.3
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 3040)
  AUTHORS   Tonduti,D., Zambon,A.A., Ghezzi,D., Lamantea,E., Izzo,R.,
            Parazzini,C., Baldoli,C., van der Knaap,M.S. and Fumagalli,F.
  TITLE     Expanding the Spectrum of NUBPL-Related Leukodystrophy
  JOURNAL   Neuropediatrics 54 (3), 161-166 (2023)
   PUBMED   36868263
  REMARK    GeneRIF: Expanding the Spectrum of NUBPL-Related Leukodystrophy.
            Review article
REFERENCE   2  (bases 1 to 3040)
  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 3040)
  AUTHORS   Kimonis,V., Al Dubaisi,R., Maclean,A.E., Hall,K., Weiss,L.,
            Stover,A.E., Schwartz,P.H., Berg,B., Cheng,C., Parikh,S.,
            Conner,B.R., Wu,S., Hasso,A.N., Scott,D.A., Koenig,M.K., Karam,R.,
            Tang,S., Smith,M., Chao,E., Balk,J., Hatchwell,E. and Eis,P.S.
  TITLE     NUBPL mitochondrial disease: new patients and review of the genetic
            and clinical spectrum
  JOURNAL   J Med Genet 58 (5), 314-325 (2021)
   PUBMED   32518176
  REMARK    GeneRIF: NUBPL mitochondrial disease: new patients and review of
            the genetic and clinical spectrum.
            Review article
REFERENCE   4  (bases 1 to 3040)
  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 3040)
  AUTHORS   Protasoni,M., Bruno,C., Donati,M.A., Mohamoud,K., Severino,M.,
            Allegri,A., Robinson,A.J., Reyes,A., Zeviani,M. and Garone,C.
  TITLE     Novel compound heterozygous pathogenic variants in
            nucleotide-binding protein like protein (NUBPL) cause
            leukoencephalopathy with multi-systemic involvement
  JOURNAL   Mol Genet Metab 129 (1), 26-34 (2020)
   PUBMED   31787496
  REMARK    GeneRIF: Novel compound heterozygous pathogenic variants in
            nucleotide-binding protein like protein (NUBPL) cause
            leukoencephalopathy with multi-systemic involvement.
REFERENCE   6  (bases 1 to 3040)
  AUTHORS   Calvo,S.E., Tucker,E.J., Compton,A.G., Kirby,D.M., Crawford,G.,
            Burtt,N.P., Rivas,M., Guiducci,C., Bruno,D.L., Goldberger,O.A.,
            Redman,M.C., Wiltshire,E., Wilson,C.J., Altshuler,D., Gabriel,S.B.,
            Daly,M.J., Thorburn,D.R. and Mootha,V.K.
  TITLE     High-throughput, pooled sequencing identifies mutations in NUBPL
            and FOXRED1 in human complex I deficiency
  JOURNAL   Nat Genet 42 (10), 851-858 (2010)
   PUBMED   20818383
  REMARK    GeneRIF: Mutations in NUBPL is associated with complex I
            deficiency.
REFERENCE   7  (bases 1 to 3040)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3040)
  AUTHORS   Sheftel,A.D., Stehling,O., Pierik,A.J., Netz,D.J., Kerscher,S.,
            Elsasser,H.P., Wittig,I., Balk,J., Brandt,U. and Lill,R.
  TITLE     Human ind1, an iron-sulfur cluster assembly factor for respiratory
            complex I
  JOURNAL   Mol Cell Biol 29 (22), 6059-6073 (2009)
   PUBMED   19752196
  REMARK    GeneRIF: These data identify huInd1 as a new assembly factor for
            human respiratory complex I with a possible role in the delivery of
            one or more Fe/S clusters to complex I subunits.[Ind1]
REFERENCE   9  (bases 1 to 3040)
  AUTHORS   Volpi,S., Heaton,C., Mack,K., Hamilton,J.B., Lannan,R.,
            Wolfgang,C.D., Licamele,L., Polymeropoulos,M.H. and Lavedan,C.
  TITLE     Whole genome association study identifies polymorphisms associated
            with QT prolongation during iloperidone treatment of schizophrenia
  JOURNAL   Mol Psychiatry 14 (11), 1024-1031 (2009)
   PUBMED   18521091
REFERENCE   10 (bases 1 to 3040)
  AUTHORS   Baranzini,S.E., Wang,J., Gibson,R.A., Galwey,N., Naegelin,Y.,
            Barkhof,F., Radue,E.W., Lindberg,R.L., Uitdehaag,B.M.,
            Johnson,M.R., Angelakopoulou,A., Hall,L., Richardson,J.C.,
            Prinjha,R.K., Gass,A., Geurts,J.J., Kragt,J., Sombekke,M.,
            Vrenken,H., Qualley,P., Lincoln,R.R., Gomez,R., Caillier,S.J.,
            George,M.F., Mousavi,H., Guerrero,R., Okuda,D.T., Cree,B.A.,
            Green,A.J., Waubant,E., Goodin,D.S., Pelletier,D., Matthews,P.M.,
            Hauser,S.L., Kappos,L., Polman,C.H. and Oksenberg,J.R.
  TITLE     Genome-wide association analysis of susceptibility and clinical
            phenotype in multiple sclerosis
  JOURNAL   Hum Mol Genet 18 (4), 767-778 (2009)
   PUBMED   19010793
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP274976.1, BC024919.1,
            AK022722.1, CT002019.1 and BM978769.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_025152.2.
            
            Summary: This gene encodes a member of the Mrp/NBP35 ATP-binding
            proteins family. The encoded protein is required for the assembly
            of the respiratory chain NADH dehydrogenase (complex I), an
            oligomeric enzymatic complex located in the inner mitochondrial
            membrane. Mutations in this gene cause mitochondrial complex I
            deficiency. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, May 2014].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR1803612.275666.1,
                                           SRR3476690.878580.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000281081.12/
                                                  ENSP00000281081.7
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-55                BP274976.1         20-74
            56-628              BC024919.1         1-573
            629-1268            AK022722.1         561-1200
            1269-2141           BC024919.1         1214-2086
            2142-2629           CT002019.1         127-614
            2630-3040           BM978769.1         14-424              c
FEATURES             Location/Qualifiers
     source          1..3040
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..3040
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /note="NUBP iron-sulfur cluster assembly factor,
                     mitochondrial"
                     /db_xref="GeneID:80224"
                     /db_xref="HGNC:HGNC:20278"
                     /db_xref="MIM:613621"
     exon            1..144
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..996
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; iron-sulfur protein required for NADH
                     dehydrogenase; IND1 homolog; nucleotide binding protein
                     like; iron-sulfur cluster transfer protein NUBPL"
                     /codon_start=1
                     /product="iron-sulfur cluster transfer protein NUBPL
                     isoform 1 precursor"
                     /protein_id="NP_079428.2"
                     /db_xref="CCDS:CCDS41940.1"
                     /db_xref="GeneID:80224"
                     /db_xref="HGNC:HGNC:20278"
                     /db_xref="MIM:613621"
                     /translation="MGIWQRLLLFGGVSLRAGGGATAPLGGSRAMVCGRQLSGAGSET
                     LKQRRTQIMSRGLPKQKPIEGVKQVIVVASGKGGVGKSTTAVNLALALAANDSSKAIG
                     LLDVDVYGPSVPKMMNLKGNPELSQSNLMRPLLNYGIACMSMGFLVEESEPVVWRGLM
                     VMSAIEKLLRQVDWGQLDYLVVDMPPGTGDVQLSVSQNIPITGAVIVSTPQDIALMDA
                     HKGAEMFRRVHVPVLGLVQNMSVFQCPKCKHKTHIFGADGARKLAQTLGLEVLGDIPL
                     HLNIREASDTGQPIVFSQPESDEAKAYLRIAVEVVRRLPSPSE"
     exon            145..292
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     exon            293..327
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     exon            328..418
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     exon            419..458
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     exon            459..549
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     exon            550..643
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     exon            644..729
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     exon            730..850
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     exon            851..933
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     exon            934..3040
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3018..3023
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /note="hexamer: AATAAA"
     polyA_site      3040
                     /gene="NUBPL"
                     /gene_synonym="C14orf127; huInd1; IND1; MC1DN21"
                     /note="major polyA site"
ORIGIN      
        1 agtttcccag cagggctcac agcagcgttc cgcgtcatgg ggatttggca gcgtctgctg
       61 ctttttggtg gggtgtcgct ccgggctggt ggcggggcca ctgccccgct tgggggaagc
      121 cgagcgatgg tttgtgggcg ccagttgtct ggcgccggga gtgagaccct aaaacaaaga
      181 agaacacaaa tcatgtcccg aggacttcca aagcagaaac cgatagaagg tgttaaacaa
      241 gttatagttg tggcttctgg aaagggtgga gtcggaaaat ctactacagc agtgaatctt
      301 gcacttgcac tagcagcgaa cgattcgtcc aaggccattg gtttgctaga tgtggatgtg
      361 tatggacctt cagttccaaa gatgatgaat ctgaaaggaa atccggaatt atcacagagc
      421 aacctaatga ggcctctctt gaattatggt attgcttgta tgtctatggg ctttctggtt
      481 gaagaaagtg aaccagtagt ttggagaggc cttatggtaa tgtcggccat tgagaaattg
      541 ttgaggcagg tagattgggg tcaactggac tacttagttg tagacatgcc accaggaact
      601 ggagatgtgc agttatcagt ctcacagaat attcctataa caggtgctgt gattgtctcc
      661 acgccccagg acatcgcatt gatggatgca cacaagggtg ctgagatgtt tcgcagagtc
      721 cacgtgcccg tccttggcct tgtccaaaac atgagtgttt tccagtgtcc aaaatgtaaa
      781 cacaaaactc atatttttgg tgctgatggt gcaaggaaac tagcacagac ccttggtctt
      841 gaagttctag gagacattcc cttacacctt aatataaggg aagcttcaga tacaggccag
      901 ccaattgtgt tttcacagcc tgaaagtgat gaggccaaag cttacttgag gattgctgtg
      961 gaagtggtaa gaagattgcc atcaccttca gaatgattcc ccaagtgtcc tggaaatttg
     1021 cctggtactg acattaagag gacctttgga aatcagcaat gtggtgatgg aacctacaga
     1081 aataatagaa atcataactg ttttatttct aaggaaagaa tgtcttcata tttgacttgc
     1141 taagctaagg ttcacaaaac tttgatgtat caatgttaac tgctatattt aggaattttt
     1201 tgaaagctgg tgtgtaccac ctgcaaagaa ctgcatttta ttttattgaa ttaccccttt
     1261 agaaatcacg agtttatgat gttacaagtc cattttggga gagaactgta cactttttgc
     1321 aggaccacag aattagtaat ttaaatgata tactaaattt gtgtatgggc ataagtatta
     1381 cgccttccca ccaggcaatt tggactgtct ttgaatcctg tctttggtac tgtcttggac
     1441 atgttcttaa tatgaacctc tgcttcttca tctggatcac actatacccc agacttaatg
     1501 aatttcagtc tccaggagtg gagcctgaac atatgtattt ttagtaagac catgatgatg
     1561 ttgatgatga ttctggtaat catggcagta agaataatag ctaacattta acaagttaat
     1621 tataattgtt cttccatttg tgtgagtggg tactattatc tccattttac agataagtaa
     1681 tttgagatat aatttgaagg cactcaacct tgagtgtctt gctgagggtt actgtatcta
     1741 gcaggtgatg gagcttggat ttgaacttga gtaattcgat attagattca tctttttgta
     1801 caccaatgtg cttttgttaa ttaaaaaaag tcggtggtgg ctaggcgtgg tggctcacgc
     1861 ctgtaatccc agcactttgg gaggttgagg tgggtggatc atgaggtcag gagttcaaga
     1921 ccagcctgac caacatggtg aaaccccgtc tctactaaaa atacaaaaat tagctgggtg
     1981 tggtggcata tgcctgtaat cccagctact cgggaggctg aggcaggaga atcatttcaa
     2041 cccgggaggc tgaggttgca gtgagtggag attgtaccac tgcactccag cctggtcaat
     2101 ggagtgcgac tccatctcaa aaaaaaaaaa aaaaaaaaaa aaagtcgggg gagatgcaat
     2161 atttagcatt tcctcaaact ttttttggcc atgaaatcca ccacccccct cctttttcag
     2221 agcatttcat gaagttcaca tttcaaataa tacattttga aaaacattta tcttgtctaa
     2281 ttgaagctca aagagataga gtcaatgact tttcaaagtc aggtagcaga tagttttaaa
     2341 gctgcaagta ctgataagtg tgagccatta gttaattcgc atttataaag aagtggtctg
     2401 tcacttttgg caaatgtctt gacatctgtt gctctacagt tgtcaactag aaaattaggc
     2461 atagagtttc acattattat aagcatgttt tcacacaaaa acatgtacat tgatgtttat
     2521 tgcaatttta tgtgtaataa ccaaaaacaa cccagatttt cttcattggg taaatgatta
     2581 aacaaaccat agtacattca taccgtgagt gctactcagc aataaaaaag aacaaactat
     2641 gggtacaggc agcaacttat aattccagag aattatgctg aatgaaaaag gccaatttaa
     2701 aaaggttttg taccaaaaga ttccatttat ataacgttct tgaagtgaca taattataga
     2761 aatggagaac agattagtgg tggctgtgtt aaggaggggg tgaggatggg agagaattgg
     2821 gcgtggctgt gagaaacatg agggatcctt gtgatgatgg aaatgttcta tatcacagct
     2881 atcgatgtca gtatcccagt tgtgatattg tgctatagtt ttgcaagatg ttaccactgg
     2941 gggaaattgg gtgaagggca catggaatct ctgtattatt tcaactgcat gtaaatctac
     3001 aattatctca aaataaaaat aaaagttaaa aaaacacaaa
//
