LOCUS       NM_001002755             898 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens NFU1 iron-sulfur cluster scaffold (NFU1), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001002755
VERSION     NM_001002755.4
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 898)
  AUTHORS   Zhong,H., Janer,A., Khalimonchuk,O., Antonicka,H., Shoubridge,E.A.
            and Barrientos,A.
  TITLE     BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to
            multiple mitochondrial dysfunctions syndrome
  JOURNAL   Nucleic Acids Res 51 (21), 11797-11812 (2023)
   PUBMED   37823603
  REMARK    GeneRIF: BOLA3 and NFU1 link mitoribosome iron-sulfur cluster
            assembly to multiple mitochondrial dysfunctions syndrome.
REFERENCE   2  (bases 1 to 898)
  AUTHORS   Da Vela,S., Saudino,G., Lucarelli,F., Banci,L., Svergun,D.I. and
            Ciofi-Baffoni,S.
  TITLE     Structural Plasticity of NFU1 Upon Interaction with Binding
            Partners: Insights into the Mitochondrial [4Fe-4S] Cluster Pathway
  JOURNAL   J Mol Biol 435 (15), 168154 (2023)
   PUBMED   37211204
  REMARK    GeneRIF: Structural Plasticity of NFU1 Upon Interaction with
            Binding Partners: Insights into the Mitochondrial [4Fe-4S] Cluster
            Pathway.
REFERENCE   3  (bases 1 to 898)
  AUTHORS   Kropp,P.A., Rogers,P., Kelly,S.E., McWhirter,R., Goff,W.D.,
            Levitan,I.M., Miller,D.M. and Golden,A.
  TITLE     Patient-specific variants of NFU1/NFU-1 disrupt cholinergic
            signaling in a model of multiple mitochondrial dysfunctions
            syndrome 1
  JOURNAL   Dis Model Mech 16 (2) (2023)
   PUBMED   36645076
  REMARK    GeneRIF: Patient-specific variants of NFU1/NFU-1 disrupt
            cholinergic signaling in a model of multiple mitochondrial
            dysfunctions syndrome 1.
REFERENCE   4  (bases 1 to 898)
  AUTHORS   Kaiyrzhanov,R., Zaki,M.S., Lau,T., Sen,S., Azizimalamiri,R.,
            Zamani,M., Sayin,G.Y., Hilander,T., Efthymiou,S., Chelban,V.,
            Brown,R., Thompson,K., Scarano,M.I., Ganesh,J., Koneev,K.,
            Gulacar,I.M., Person,R., Sadykova,D., Maidyrov,Y., Seifi,T.,
            Zadagali,A., Bernard,G., Allis,K., Elloumi,H.Z., Lindy,A.,
            Taghiabadi,E., Verma,S., Logan,R., Kirmse,B., Bai,R., Khalaf,S.M.,
            Abdel-Hamid,M.S., Sedaghat,A., Shariati,G., Issa,M., Zeighami,J.,
            Elbendary,H.M., Brown,G., Taylor,R.W., Galehdari,H., Gleeson,J.J.,
            Carroll,C.J., Cowan,J.A., Moreno-De-Luca,A., Houlden,H. and
            Maroofian,R.
  TITLE     Phenotypic continuum of NFU1-related disorders
  JOURNAL   Ann Clin Transl Neurol 9 (12), 2025-2035 (2022)
   PUBMED   36256512
  REMARK    GeneRIF: Phenotypic continuum of NFU1-related disorders.
REFERENCE   5  (bases 1 to 898)
  AUTHORS   Navarro-Sastre,A., Tort,F., Stehling,O., Uzarska,M.A., Arranz,J.A.,
            Del Toro,M., Labayru,M.T., Landa,J., Font,A., Garcia-Villoria,J.,
            Merinero,B., Ugarte,M., Gutierrez-Solana,L.G., Campistol,J.,
            Garcia-Cazorla,A., Vaquerizo,J., Riudor,E., Briones,P., Elpeleg,O.,
            Ribes,A. and Lill,R.
  TITLE     A fatal mitochondrial disease is associated with defective NFU1
            function in the maturation of a subset of mitochondrial Fe-S
            proteins
  JOURNAL   Am J Hum Genet 89 (5), 656-667 (2011)
   PUBMED   22077971
  REMARK    GeneRIF: A fatal mitochondrial disease is associated with defective
            NFU1 function in the maturation of a subset of mitochondrial Fe-S
            proteins
REFERENCE   6  (bases 1 to 898)
  AUTHORS   Cameron,J.M., Janer,A., Levandovskiy,V., Mackay,N., Rouault,T.A.,
            Tong,W.H., Ogilvie,I., Shoubridge,E.A. and Robinson,B.H.
  TITLE     Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3
            cause a fatal deficiency of multiple respiratory chain and
            2-oxoacid dehydrogenase enzymes
  JOURNAL   Am J Hum Genet 89 (4), 486-495 (2011)
   PUBMED   21944046
  REMARK    GeneRIF: Mutations in iron-sulfur cluster scaffold genes NFU1 and
            BOLA3 cause a fatal deficiency of multiple respiratory chain and
            2-oxoacid dehydrogenase enzymes [case report]
REFERENCE   7  (bases 1 to 898)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (bases 1 to 898)
  AUTHORS   Ganesh,S., Tsurutani,N., Suzuki,T., Ueda,K., Agarwala,K.L.,
            Osada,H., Delgado-Escueta,A.V. and Yamakawa,K.
  TITLE     The Lafora disease gene product laforin interacts with HIRIP5, a
            phylogenetically conserved protein containing a NifU-like domain
  JOURNAL   Hum Mol Genet 12 (18), 2359-2368 (2003)
   PUBMED   12915448
  REMARK    GeneRIF: Laforin interacts with HIRIP5.
REFERENCE   9  (bases 1 to 898)
  AUTHORS   Tong,W.H., Jameson,G.N., Huynh,B.H. and Rouault,T.A.
  TITLE     Subcellular compartmentalization of human Nfu, an iron-sulfur
            cluster scaffold protein, and its ability to assemble a [4Fe-4S]
            cluster
  JOURNAL   Proc Natl Acad Sci U S A 100 (17), 9762-9767 (2003)
   PUBMED   12886008
  REMARK    GeneRIF: Analyses of genomic DNA, transcripts, and translation
            products indicate that alternative splicing of a common pre-mRNA
            results in synthesis of two Nfu isoforms with distinct subcellular
            localizations.
REFERENCE   10 (bases 1 to 898)
  AUTHORS   Lorain,S., Lecluse,Y., Scamps,C., Mattei,M.G. and Lipinski,M.
  TITLE     Identification of human and mouse HIRA-interacting protein-5
            (HIRIP5), two mammalian representatives in a family of
            phylogenetically conserved proteins with a role in the biogenesis
            of Fe/S proteins
  JOURNAL   Biochim Biophys Acta 1517 (3), 376-383 (2001)
   PUBMED   11342215
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC113692.1 and AI129426.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 18, 2019 this sequence version replaced NM_001002755.3.
            
            Summary: This gene encodes a protein that is localized to
            mitochondria and plays a critical role in iron-sulfur cluster
            biogenesis. The encoded protein assembles and transfers 4Fe-4S
            clusters to target apoproteins including succinate dehydrogenase
            and lipoic acid synthase. Mutations in this gene are a cause of
            multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of
            this gene are located on the short arms of chromosomes 1 and 3.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Dec
            2011].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and uses
            an upstream, in-frame start codon, compared to variant 1. The
            encoded isoform (2) has a longer N-terminus, compared to 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 :: BX441422.2, AK300700.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145544
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000410022.7/
                                                  ENSP00000387219.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-807               BC113692.1         156-962
            808-898             AI129426.1         17-107              c
FEATURES             Location/Qualifiers
     source          1..898
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..898
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /note="NFU1 iron-sulfur cluster scaffold"
                     /db_xref="GeneID:27247"
                     /db_xref="HGNC:HGNC:16287"
                     /db_xref="MIM:608100"
     exon            1..75
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..778
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /note="isoform 2 is encoded by transcript variant 2;
                     HIRA-interacting protein 5; NifU-like C-terminal domain
                     containing; NFU1 iron-sulfur cluster scaffold homolog,
                     mitochondrial; iron-sulfur cluster scaffold protein"
                     /codon_start=1
                     /product="NFU1 iron-sulfur cluster scaffold homolog,
                     mitochondrial isoform 2"
                     /protein_id="NP_001002755.1"
                     /db_xref="CCDS:CCDS33217.1"
                     /db_xref="GeneID:27247"
                     /db_xref="HGNC:HGNC:16287"
                     /db_xref="MIM:608100"
                     /translation="MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRP
                     LFPLPAAFYHPVRYMFIQTQDTPNPNSLKFIPGKPVLETRTMDFPTPAAAFRSPLARQ
                     LFRIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGE
                     AGSEEDDEVVAMIKELLDTRIRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSII
                     TLKNGIQNMLQFYIPEVEGVEQVMDDESDEKEANSP"
     exon            76..179
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /inference="alignment:Splign:2.1.0"
     exon            180..315
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /inference="alignment:Splign:2.1.0"
     exon            316..382
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /inference="alignment:Splign:2.1.0"
     exon            383..497
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /inference="alignment:Splign:2.1.0"
     exon            498..558
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /inference="alignment:Splign:2.1.0"
     exon            559..733
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /inference="alignment:Splign:2.1.0"
     exon            734..898
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /inference="alignment:Splign:2.1.0"
     regulatory      871..876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /note="hexamer: AATAAA"
     polyA_site      898
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC; SPG93"
                     /note="major polyA site"
ORIGIN      
        1 actccggact aagatggcgg cgacggccag gcggggctgg ggagctgcgg ctgttgccgc
       61 cgggctgcgc aggcggttct gtcatatgtt gaagaatcca tacaccatta agaaacagcc
      121 tctgcatcag tttgtacaaa gaccactttt cccactacct gcagcctttt atcacccagt
      181 gagatacatg tttattcaaa cacaagatac cccaaatcca aacagcttaa agtttatacc
      241 aggaaaacca gttcttgaga caaggaccat ggattttccc accccagctg cagcatttcg
      301 ctcccctctg gctaggcagt tatttaggat tgaaggagta aaaagtgtct tctttggacc
      361 agatttcatc actgtcacaa aggaaaatga agaattagac tggaatttac tgaaaccaga
      421 tatttatgca acaatcatgg acttctttgc atctggctta cccctggtta ctgaggaaac
      481 accttcagga gaagcaggat ctgaagaaga tgatgaagtt gtggcaatga ttaaggaatt
      541 gttagatact agaatacggc caactgtgca ggaagatgga ggggatgtaa tctacaaagg
      601 ctttgaagat ggcattgtac agctgaaact ccagggttct tgtaccagct gccctagttc
      661 aatcattact ctgaaaaatg gaattcagaa catgctgcag ttttatattc cggaggtaga
      721 aggcgtagaa caggttatgg atgatgaatc agatgaaaaa gaagcaaact caccttaaaa
      781 taatctggat tttctttggg cataacagtc agacttgttg ataatatata tcaagttttt
      841 attattaata tgctgaggaa cttgaagatt aataaaatat gctcttcaga gaatgata
//
