LOCUS       NM_022493               2095 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens cytosolic iron-sulfur assembly component 3 (CIAO3),
            transcript variant 1, mRNA.
ACCESSION   NM_022493
VERSION     NM_022493.3
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 2095)
  AUTHORS   Liu,H., Wu,X., Yang,T., Wang,C., Huang,F., Xu,Y. and Peng,J.
  TITLE     NARFL deficiency caused mitochondrial dysfunction in lung cancer
            cells by HIF-1alpha-DNMT1 axis
  JOURNAL   Sci Rep 13 (1), 17176 (2023)
   PUBMED   37821486
  REMARK    GeneRIF: NARFL deficiency caused mitochondrial dysfunction in lung
            cancer cells by HIF-1alpha-DNMT1 axis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2095)
  AUTHORS   Maione,V., Grifagni,D., Torricella,F., Cantini,F. and Banci,L.
  TITLE     CIAO3 protein forms a stable ternary complex with two key players
            of the human cytosolic iron-sulfur cluster assembly machinery
  JOURNAL   J Biol Inorg Chem 25 (3), 501-508 (2020)
   PUBMED   32222833
  REMARK    GeneRIF: CIAO3 protein forms a stable ternary complex with two key
            players of the human cytosolic iron-sulfur cluster assembly
            machinery.
REFERENCE   3  (bases 1 to 2095)
  AUTHORS   Liu,H.Z., Du,C.X., Luo,J., Qiu,X.P., Li,Z.H., Lou,Q.Y., Yin,Z. and
            Zheng,F.
  TITLE     A novel mutation in nuclear prelamin a recognition factor-like
            causes diffuse pulmonary arteriovenous malformations
  JOURNAL   Oncotarget 8 (2), 2708-2718 (2017)
   PUBMED   27835862
  REMARK    GeneRIF: we concluded that the Ser161Ile mutant induced NARFL
            deficiency and eventually diffuse PAVMs probably through VEGF
            pathway. In a word, we detected a functional mutation in NARFL,
            which might be the pathogenic gene in this pedigree.
REFERENCE   4  (bases 1 to 2095)
  AUTHORS   He,M., Xu,M., Zhang,B., Liang,J., Chen,P., Lee,J.Y., Johnson,T.A.,
            Li,H., Yang,X., Dai,J., Liang,L., Gui,L., Qi,Q., Huang,J., Li,Y.,
            Adair,L.S., Aung,T., Cai,Q., Cheng,C.Y., Cho,M.C., Cho,Y.S.,
            Chu,M., Cui,B., Gao,Y.T., Go,M.J., Gu,D., Gu,W., Guo,H., Hao,Y.,
            Hong,J., Hu,Z., Hu,Y., Huang,J., Hwang,J.Y., Ikram,M.K., Jin,G.,
            Kang,D.H., Khor,C.C., Kim,B.J., Kim,H.T., Kubo,M., Lee,J., Lee,J.,
            Lee,N.R., Li,R., Li,J., Liu,J., Longe,J., Lu,W., Lu,X., Miao,X.,
            Okada,Y., Ong,R.T., Qiu,G., Seielstad,M., Sim,X., Song,H.,
            Takeuchi,F., Tanaka,T., Taylor,P.R., Wang,L., Wang,W., Wang,Y.,
            Wu,C., Wu,Y., Xiang,Y.B., Yamamoto,K., Yang,H., Liao,M., Yokota,M.,
            Young,T., Zhang,X., Kato,N., Wang,Q.K., Zheng,W., Hu,F.B., Lin,D.,
            Shen,H., Teo,Y.Y., Mo,Z., Wong,T.Y., Lin,X., Mohlke,K.L., Ning,G.,
            Tsunoda,T., Han,B.G., Shu,X.O., Tai,E.S., Wu,T. and Qi,L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   5  (bases 1 to 2095)
  AUTHORS   Seki,M., Takeda,Y., Iwai,K. and Tanaka,K.
  TITLE     IOP1 protein is an external component of the human cytosolic
            iron-sulfur cluster assembly (CIA) machinery and functions in the
            MMS19 protein-dependent CIA pathway
  JOURNAL   J Biol Chem 288 (23), 16680-16689 (2013)
   PUBMED   23585563
  REMARK    GeneRIF: MMS19 interacts with target proteins. MIP18 has a role to
            bridge MMS19 and CIAO1. CIAO1 also binds IOP1.
REFERENCE   6  (bases 1 to 2095)
  AUTHORS   Lango Allen,H., Estrada,K., Lettre,G., Berndt,S.I., Weedon,M.N.,
            Rivadeneira,F., Willer,C.J., Jackson,A.U., Vedantam,S.,
            Raychaudhuri,S., Ferreira,T., Wood,A.R., Weyant,R.J., Segre,A.V.,
            Speliotes,E.K., Wheeler,E., Soranzo,N., Park,J.H., Yang,J.,
            Gudbjartsson,D., Heard-Costa,N.L., Randall,J.C., Qi,L., Vernon
            Smith,A., Magi,R., Pastinen,T., Liang,L., Heid,I.M., Luan,J.,
            Thorleifsson,G., Winkler,T.W., Goddard,M.E., Sin Lo,K., Palmer,C.,
            Workalemahu,T., Aulchenko,Y.S., Johansson,A., Zillikens,M.C.,
            Feitosa,M.F., Esko,T., Johnson,T., Ketkar,S., Kraft,P., Mangino,M.,
            Prokopenko,I., Absher,D., Albrecht,E., Ernst,F., Glazer,N.L.,
            Hayward,C., Hottenga,J.J., Jacobs,K.B., Knowles,J.W., Kutalik,Z.,
            Monda,K.L., Polasek,O., Preuss,M., Rayner,N.W., Robertson,N.R.,
            Steinthorsdottir,V., Tyrer,J.P., Voight,B.F., Wiklund,F., Xu,J.,
            Zhao,J.H., Nyholt,D.R., Pellikka,N., Perola,M., Perry,J.R.,
            Surakka,I., Tammesoo,M.L., Altmaier,E.L., Amin,N., Aspelund,T.,
            Bhangale,T., Boucher,G., Chasman,D.I., Chen,C., Coin,L.,
            Cooper,M.N., Dixon,A.L., Gibson,Q., Grundberg,E., Hao,K., Juhani
            Junttila,M., Kaplan,L.M., Kettunen,J., Konig,I.R., Kwan,T.,
            Lawrence,R.W., Levinson,D.F., Lorentzon,M., McKnight,B.,
            Morris,A.P., Muller,M., Suh Ngwa,J., Purcell,S., Rafelt,S.,
            Salem,R.M., Salvi,E., Sanna,S., Shi,J., Sovio,U., Thompson,J.R.,
            Turchin,M.C., Vandenput,L., Verlaan,D.J., Vitart,V., White,C.C.,
            Ziegler,A., Almgren,P., Balmforth,A.J., Campbell,H., Citterio,L.,
            De Grandi,A., Dominiczak,A., Duan,J., Elliott,P., Elosua,R.,
            Eriksson,J.G., Freimer,N.B., Geus,E.J., Glorioso,N., Haiqing,S.,
            Hartikainen,A.L., Havulinna,A.S., Hicks,A.A., Hui,J., Igl,W.,
            Illig,T., Jula,A., Kajantie,E., Kilpelainen,T.O., Koiranen,M.,
            Kolcic,I., Koskinen,S., Kovacs,P., Laitinen,J., Liu,J., Lokki,M.L.,
            Marusic,A., Maschio,A., Meitinger,T., Mulas,A., Pare,G.,
            Parker,A.N., Peden,J.F., Petersmann,A., Pichler,I.,
            Pietilainen,K.H., Pouta,A., Ridderstrale,M., Rotter,J.I.,
            Sambrook,J.G., Sanders,A.R., Schmidt,C.O., Sinisalo,J., Smit,J.H.,
            Stringham,H.M., Bragi Walters,G., Widen,E., Wild,S.H.,
            Willemsen,G., Zagato,L., Zgaga,L., Zitting,P., Alavere,H.,
            Farrall,M., McArdle,W.L., Nelis,M., Peters,M.J., Ripatti,S., van
            Meurs,J.B., Aben,K.K., Ardlie,K.G., Beckmann,J.S., Beilby,J.P.,
            Bergman,R.N., Bergmann,S., Collins,F.S., Cusi,D., den Heijer,M.,
            Eiriksdottir,G., Gejman,P.V., Hall,A.S., Hamsten,A., Huikuri,H.V.,
            Iribarren,C., Kahonen,M., Kaprio,J., Kathiresan,S., Kiemeney,L.,
            Kocher,T., Launer,L.J., Lehtimaki,T., Melander,O., Mosley,T.H. Jr.,
            Musk,A.W., Nieminen,M.S., O'Donnell,C.J., Ohlsson,C., Oostra,B.,
            Palmer,L.J., Raitakari,O., Ridker,P.M., Rioux,J.D., Rissanen,A.,
            Rivolta,C., Schunkert,H., Shuldiner,A.R., Siscovick,D.S.,
            Stumvoll,M., Tonjes,A., Tuomilehto,J., van Ommen,G.J., Viikari,J.,
            Heath,A.C., Martin,N.G., Montgomery,G.W., Province,M.A., Kayser,M.,
            Arnold,A.M., Atwood,L.D., Boerwinkle,E., Chanock,S.J., Deloukas,P.,
            Gieger,C., Gronberg,H., Hall,P., Hattersley,A.T., Hengstenberg,C.,
            Hoffman,W., Lathrop,G.M., Salomaa,V., Schreiber,S., Uda,M.,
            Waterworth,D., Wright,A.F., Assimes,T.L., Barroso,I., Hofman,A.,
            Mohlke,K.L., Boomsma,D.I., Caulfield,M.J., Cupples,L.A.,
            Erdmann,J., Fox,C.S., Gudnason,V., Gyllensten,U., Harris,T.B.,
            Hayes,R.B., Jarvelin,M.R., Mooser,V., Munroe,P.B., Ouwehand,W.H.,
            Penninx,B.W., Pramstaller,P.P., Quertermous,T., Rudan,I.,
            Samani,N.J., Spector,T.D., Volzke,H., Watkins,H., Wilson,J.F.,
            Groop,L.C., Haritunians,T., Hu,F.B., Kaplan,R.C., Metspalu,A.,
            North,K.E., Schlessinger,D., Wareham,N.J., Hunter,D.J.,
            O'Connell,J.R., Strachan,D.P., Wichmann,H.E., Borecki,I.B., van
            Duijn,C.M., Schadt,E.E., Thorsteinsdottir,U., Peltonen,L.,
            Uitterlinden,A.G., Visscher,P.M., Chatterjee,N., Loos,R.J.,
            Boehnke,M., McCarthy,M.I., Ingelsson,E., Lindgren,C.M.,
            Abecasis,G.R., Stefansson,K., Frayling,T.M. and Hirschhorn,J.N.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   7  (bases 1 to 2095)
  AUTHORS   Song,D., Tu,Z. and Lee,F.S.
  TITLE     Human ISCA1 interacts with IOP1/NARFL and functions in both
            cytosolic and mitochondrial iron-sulfur protein biogenesis
  JOURNAL   J Biol Chem 284 (51), 35297-35307 (2009)
   PUBMED   19864422
  REMARK    GeneRIF: human IscA1 plays an important role in both mitochondrial
            and cytosolic iron-sulfur cluster biogenesis, and a notable
            component of the latter is the interaction between IscA1 and IOP1.
REFERENCE   8  (bases 1 to 2095)
  AUTHORS   Song,D. and Lee,F.S.
  TITLE     A role for IOP1 in mammalian cytosolic iron-sulfur protein
            biogenesis
  JOURNAL   J Biol Chem 283 (14), 9231-9238 (2008)
   PUBMED   18270200
  REMARK    GeneRIF: IOP1 is involved in mammalian cytosolic Fe-S protein
            maturation.
REFERENCE   9  (bases 1 to 2095)
  AUTHORS   Huang,J., Song,D., Flores,A., Zhao,Q., Mooney,S.M., Shaw,L.M. and
            Lee,F.S.
  TITLE     IOP1, a novel hydrogenase-like protein that modulates
            hypoxia-inducible factor-1alpha activity
  JOURNAL   Biochem J 401 (1), 341-352 (2007)
   PUBMED   16956324
REFERENCE   10 (bases 1 to 2095)
  AUTHORS   Daniels,R.J., Peden,J.F., Lloyd,C., Horsley,S.W., Clark,K.,
            Tufarelli,C., Kearney,L., Buckle,V.J., Doggett,N.A., Flint,J. and
            Higgs,D.R.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA153375.1, AY129231.1 and BU741568.1.
            
            On Nov 22, 2018 this sequence version replaced NM_022493.2.
            
            Transcript Variant: This variant (1) encodes the longer 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 :: AK025641.1, SRR3476690.1064261.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467148 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000251588.7/ ENSP00000251588.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 DA153375.1         42-47
            7-2089              AY129231.1         1-2083
            2090-2095           BU741568.1         27-32               c
FEATURES             Location/Qualifiers
     source          1..2095
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2095
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /note="cytosolic iron-sulfur assembly component 3"
                     /db_xref="GeneID:64428"
                     /db_xref="HGNC:HGNC:14179"
                     /db_xref="MIM:611118"
     exon            1..78
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..1443
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein related to Narf; iron-only hydrogenase-like
                     protein 1; cytosolic Fe-S cluster assembly factor NARFL;
                     LET1 like/JFP15; nuclear prelamin A recognition factor
                     like"
                     /codon_start=1
                     /product="cytosolic iron-sulfur assembly component 3
                     isoform 1"
                     /protein_id="NP_071938.1"
                     /db_xref="CCDS:CCDS10425.1"
                     /db_xref="GeneID:64428"
                     /db_xref="HGNC:HGNC:14179"
                     /db_xref="MIM:611118"
                     /translation="MASPFSGALQLTDLDDFIGPSQECIKPVKVEKRAGSGVAKIRIE
                     DDGSYFQINQDGGTRRLEKAKVSLNDCLACSGCITSAETVLITQQSHEELKKVLDANK
                     MAAPSQQRLVVVSVSPQSRASLAARFQLNPTDTARKLTSFFKKIGVHFVFDTAFSRHF
                     SLLESQREFVRRFRGQADCRQALPLLASACPGWICYAEKTHGSFILPHISTARSPQQV
                     MGSLVKDFFAQQQHLTPDKIYHVTVMPCYDKKLEASRPDFFNQEHQTRDVDCVLTTGE
                     VFRLLEEEGVSLPDLEPAPLDSLCSGASAEEPTSHRGGGSGGYLEHVFRHAARELFGI
                     HVAEVTYKPLRNKDFQEVTLEKEGQVLLHFAMAYGFRNIQNLVQRLKRGRCPYHYVEV
                     MACPSGCLNGGGQLQAPDRPSRELLQHVERLYGMVRAEAPEDAPGVQELYTHWLQGTD
                     SECAGRLLHTQYHAVEKASTGLGIRW"
     exon            79..174
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     exon            175..318
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     exon            319..451
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     exon            452..586
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     exon            587..705
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     exon            706..835
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     exon            836..908
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1046
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1204
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..2095
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2072..2077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /note="hexamer: AATAAA"
     polyA_site      2095
                     /gene="CIAO3"
                     /gene_synonym="HPRN; IOP1; LET1L; NAR1; NARFL; PRN"
                     /note="major polyA site"
ORIGIN      
        1 agtgcggccg tcatggcgtc gcccttcagc ggggcgctgc agctgacgga cctggatgac
       61 ttcatcgggc cgtctcagga gtgcatcaag cctgtcaaag tggaaaaaag ggcgggaagt
      121 ggcgtggcca agattcgcat tgaagatgac gggagctact tccaaattaa ccaagacggc
      181 gggacccgga ggctggagaa ggccaaggtc tcgctaaacg actgcctggc gtgcagcggc
      241 tgcatcacct ccgcagagac cgtgcttatc acccagcaga gccacgagga gctgaagaag
      301 gttctagatg ctaacaagat ggcggcaccc agtcagcaga ggctggttgt agtttcggtc
      361 tcaccacagt ctagagcatc gctggctgca cggtttcagc tgaatcctac agatactgcc
      421 aggaaattaa cctcattctt taaaaaaata ggggtgcact tcgtcttcga caccgccttc
      481 tcaaggcact tcagcctcct ggagagccag cgagagtttg tgcggcgatt ccgaggacag
      541 gccgactgca gacaggcgct gcccctgctg gcctctgcct gcccaggctg gatctgctat
      601 gccgagaaga ctcacggcag cttcatcctc ccccacatca gcaccgcccg gtccccgcag
      661 caggtcatgg gctccctggt caaggacttc ttcgcccagc agcagcactt gacccctgac
      721 aagatctacc acgtcacagt gatgccctgc tatgacaaaa agctggaagc ctccagaccc
      781 gactttttca accaggagca ccagacacgg gatgtggact gtgtcctcac aacaggagaa
      841 gttttcaggt tgctggagga agagggcgtc tccctccccg acctggaacc agcccctctg
      901 gacagcctgt gcagcggtgc ctctgcagag gagcccacca gccatcgggg agggggctcg
      961 gggggctacc tggagcacgt gttccggcac gcggcccgag agctctttgg aatccatgtg
     1021 gctgaggtta cctacaaacc cctgaggaac aaagacttcc aggaggtgac actggagaag
     1081 gagggccagg tgctgctgca cttcgcaatg gcgtacggct tccgcaacat ccagaacctg
     1141 gtgcagaggc tcaaacgagg gcgctgcccc taccactacg tggaggtcat ggcctgcccc
     1201 tcaggctgcc tgaacggcgg gggccagctc caggccccag acaggcccag cagagagctc
     1261 ctccagcacg tggagagact gtacggcatg gtccgggctg aggcgcccga ggacgcgcct
     1321 ggggttcagg agctgtacac acactggctg cagggcacgg actcggagtg tgcaggtcgc
     1381 ttgctgcata cgcagtacca cgccgtggag aaggccagca ctggcctggg catccggtgg
     1441 taggggctgc aggaccagga ctcccaggag gccgtgtcca tgtgtgacag cagaaccaca
     1501 tgccccaaga ccccagggct tcccccaaaa ttctgagtga gctgcagggt gtgctgggac
     1561 ccgagtagga gctaggacta gccaggaccc gcagccgcct cgtcacctcc agttgggtgc
     1621 ctctgggttc ccactggctc tgcccaggtg gggtggggtg gcccaggcag cagaaggttc
     1681 cctgaggtcc cagagcctgt tccgttggcc ctgggccgag gcccacaggt gctgcccttg
     1741 ctgctgctgg tcgggcaccc aagtgcgtga ggggcttcag cctgtcccgg ggttgcctga
     1801 ggcagagcaa gacgggttct cacccctgac ttctggaggc ttcccttgaa gctctgtgca
     1861 aaaggtggga gacagagctg gacctgcagg ggtggtcccg ccacaaccct gcgtgtggac
     1921 cctggcaggg gggggtgcca ggcccctgga aagcaggggt taccgttacg aggctgtggt
     1981 ccggggcaag ccaagtacga agcagcagcc atcgcgggct gcatcatccc ccagccaggt
     2041 ccccaccagg cctgtctccc agcgtttgtc taataaacgc acccctccta aaaca
//
