LOCUS       NM_004804               3968 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens cytosolic iron-sulfur assembly component 1 (CIAO1),
            mRNA.
ACCESSION   NM_004804
VERSION     NM_004804.3
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 3968)
  AUTHORS   Maio,N., Orbach,R., Zaharieva,I.T., Topf,A., Donkervoort,S.,
            Munot,P., Mueller,J., Willis,T., Verma,S., Peric,S.,
            Krishnakumar,D., Sudhakar,S., Foley,A.R., Silverstein,S.,
            Douglas,G., Pais,L., DiTroia,S., Grunseich,C., Hu,Y., Sewry,C.,
            Sarkozy,A., Straub,V., Muntoni,F., Rouault,T.A. and Bonnemann,C.G.
  TITLE     CIAO1 loss of function causes a neuromuscular disorder with
            compromise of nucleocytoplasmic Fe-S enzymes
  JOURNAL   J Clin Invest 134 (12), e179559 (2024)
   PUBMED   38950322
  REMARK    GeneRIF: CIAO1 loss of function causes a neuromuscular disorder
            with compromise of nucleocytoplasmic Fe-S enzymes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3968)
  AUTHORS   van Karnebeek,C.D.M., Tarailo-Graovac,M., Leen,R., Meinsma,R.,
            Correard,S., Jansen-Meijer,J., Prykhozhij,S.V., Pena,I.A., Ban,K.,
            Schock,S., Saxena,V., Pras-Raves,M.L., Drogemoller,B.I.,
            Grootemaat,A.E., van der Wel,N.N., Dobritzsch,D., Roseboom,W.,
            Schomakers,B.V., Jaspers,Y.R.J., Zoetekouw,L., Roelofsen,J.,
            Ferreira,C.R., van der Lee,R., Ross,C.J., Kochan,J., McIntyre,R.L.,
            van Klinken,J.B., van Weeghel,M., Kramer,G., Weschke,B.,
            Labrune,P., Willemsen,M.A., Riva,D., Garavaglia,B., Moeschler,J.B.,
            Filiano,J.J., Ekker,M., Berman,J.N., Dyment,D., Vaz,F.M.,
            Wasserman,W.W., Houtkooper,R.H. and van Kuilenburg,A.B.P.
  TITLE     CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype
            caused by cytosolic Fe-S cluster protein assembly disorders
  JOURNAL   Genet Med 26 (6), 101104 (2024)
   PUBMED   38411040
  REMARK    GeneRIF: CIAO1 and MMS19 deficiency: A lethal neurodegenerative
            phenotype caused by cytosolic Fe-S cluster protein assembly
            disorders.
REFERENCE   3  (bases 1 to 3968)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3968)
  AUTHORS   Nan,H., Kim,Y.J., Tsuchiya,M., Fukao,T., Hara,N., Hagihara,A.,
            Nishioka,K., Hattori,N., Hara,N., Ikeuchi,T., Ohtsuka,T. and
            Takiyama,Y.
  TITLE     A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family
            with Alzheimer's Disease: The Val67Ile Variant Promotes the
            Interaction of CIAO1 and Amyloid-beta Protein Precursor
  JOURNAL   J Alzheimers Dis 84 (2), 599-605 (2021)
   PUBMED   34569959
  REMARK    GeneRIF: A Novel Heterozygous Missense Variant in the CIAO1 Gene in
            a Family with Alzheimer's Disease: The Val67Ile Variant Promotes
            the Interaction of CIAO1 and Amyloid-beta Protein Precursor.
REFERENCE   5  (bases 1 to 3968)
  AUTHORS   Kassube,S.A. and Thoma,N.H.
  TITLE     Structural insights into Fe-S protein biogenesis by the CIA
            targeting complex
  JOURNAL   Nat Struct Mol Biol 27 (8), 735-742 (2020)
   PUBMED   32632277
  REMARK    GeneRIF: Structural insights into Fe-S protein biogenesis by the
            CIA targeting complex.
REFERENCE   6  (bases 1 to 3968)
  AUTHORS   Ito,S., Tan,L.J., Andoh,D., Narita,T., Seki,M., Hirano,Y.,
            Narita,K., Kuraoka,I., Hiraoka,Y. and Tanaka,K.
  TITLE     MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in
            chromosome segregation
  JOURNAL   Mol Cell 39 (4), 632-640 (2010)
   PUBMED   20797633
REFERENCE   7  (bases 1 to 3968)
  AUTHORS   Srinivasan,V., Netz,D.J., Webert,H., Mascarenhas,J., Pierik,A.J.,
            Michel,H. and Lill,R.
  TITLE     Structure of the yeast WD40 domain protein Cia1, a component acting
            late in iron-sulfur protein biogenesis
  JOURNAL   Structure 15 (10), 1246-1257 (2007)
   PUBMED   17937914
REFERENCE   8  (bases 1 to 3968)
  AUTHORS   Higa,L.A., Wu,M., Ye,T., Kobayashi,R., Sun,H. and Zhang,H.
  TITLE     CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat
            proteins and regulates histone methylation
  JOURNAL   Nat Cell Biol 8 (11), 1277-1283 (2006)
   PUBMED   17041588
REFERENCE   9  (bases 1 to 3968)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   10 (bases 1 to 3968)
  AUTHORS   Johnstone,R.W., Wang,J., Tommerup,N., Vissing,H., Roberts,T. and
            Shi,Y.
  TITLE     Ciao 1 is a novel WD40 protein that interacts with the tumor
            suppressor protein WT1
  JOURNAL   J Biol Chem 273 (18), 10880-10887 (1998)
   PUBMED   9556563
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI460314.1, BC032812.1, AK124703.1, BE220199.1, BG108391.1 and
            AI094333.1.
            
            On May 17, 2019 this sequence version replaced NM_004804.2.
            
            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 :: SRR1803611.4632.1,
                                           SRR1803611.196354.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000488633.2/ ENSP00000418287.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-442               BI460314.1         88-529
            443-1353            BC032812.1         416-1326
            1354-1486           AK124703.1         1036-1168
            1487-1766           BE220199.1         80-359              c
            1767-1796           BG108391.1         466-495
            1797-3930           AK124703.1         1479-3612
            3931-3968           AI094333.1         7-44                c
FEATURES             Location/Qualifiers
     source          1..3968
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..3968
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /note="cytosolic iron-sulfur assembly component 1"
                     /db_xref="GeneID:9391"
                     /db_xref="HGNC:HGNC:14280"
                     /db_xref="MIM:604333"
     exon            1..265
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..1146
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /note="WD40 protein Ciao1; WD repeat domain 39; WD
                     repeat-containing protein 39; cytosolic iron-sulfur
                     protein assembly 1 homolog"
                     /codon_start=1
                     /product="probable cytosolic iron-sulfur protein assembly
                     protein CIAO1"
                     /protein_id="NP_004795.1"
                     /db_xref="CCDS:CCDS2019.1"
                     /db_xref="GeneID:9391"
                     /db_xref="HGNC:HGNC:14280"
                     /db_xref="MIM:604333"
                     /translation="MKDSLVLLGRVPAHPDSRCWFLAWNPAGTLLASCGGDRRIRIWG
                     TEGDSWICKSVLSEGHQRTVRKVAWSPCGNYLASASFDATTCIWKKNQDDFECVTTLE
                     GHENEVKSVAWAPSGNLLATCSRDKSVWVWEVDEEDEYECVSVLNSHTQDVKHVVWHP
                     SQELLASASYDDTVKLYREEEDDWVCCATLEGHESTVWSLAFDPSGQRLASCSDDRTV
                     RIWRQYLPGNEQGVACSGSDPSWKCICTLSGFHSRTIYDIAWCQLTGALATACGDDAI
                     RVFQEDPNSDPQQPTFSLTAHLHQAHSQDVNCVAWNPKEPGLLASCSDDGEVAFWKYQ
                     RPEGL"
     exon            266..414
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /inference="alignment:Splign:2.1.0"
     exon            415..526
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /inference="alignment:Splign:2.1.0"
     exon            527..615
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /inference="alignment:Splign:2.1.0"
     exon            616..817
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /inference="alignment:Splign:2.1.0"
     exon            818..905
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /inference="alignment:Splign:2.1.0"
     exon            906..3968
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1333..1338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /note="hexamer: AGTAAA"
     polyA_site      1354
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /note="major polyA site"
     regulatory      3114..3119
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /note="hexamer: AATATA"
     polyA_site      3131
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /note="major polyA site"
     regulatory      3646..3651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /note="hexamer: ACTAAA"
     polyA_site      3668
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
     regulatory      3896..3901
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
                     /note="hexamer: AATAAA"
     polyA_site      3922
                     /gene="CIAO1"
                     /gene_synonym="CIA1; MMDS10; WDR39"
ORIGIN      
        1 ggcggaagcg ggagcctctg tcggccgcgg aagcctggag tgggcggtac gcagacgcgc
       61 gcggtgagac ccgctgtctg ctcagcggac tctgcccgcc cccacctccc cctgcgtcgg
      121 gccgacatga aggactcgct ggtgctgctg ggccgtgtcc cggcgcaccc ggactcccgc
      181 tgctggttcc tggcctggaa ccccgcgggg accctgctgg cctcgtgcgg cggcgaccgg
      241 agaatccgca tctggggcac ggagggtgac agctggatct gcaagtctgt cctttctgaa
      301 ggccaccagc gcaccgtgcg gaaggtagcc tggtccccct gcggtaatta cctggcctct
      361 gccagctttg atgctaccac ttgcatttgg aagaagaacc aggatgactt tgagtgtgta
      421 accactctcg agggccatga aaatgaggtc aagtcagtgg cttgggcccc atctggcaac
      481 ctcctggcca cttgcagccg agataagagc gtttgggtct gggaagttga tgaagaggat
      541 gagtatgaat gtgtcagtgt tctcaactcc cacacacagg atgtcaagca tgtggtttgg
      601 cacccaagtc aggagctctt agcttctgcc agctatgatg acacagtgaa gctgtaccgg
      661 gaggaagagg atgactgggt atgctgtgcc acccttgagg gccatgaatc cactgtgtgg
      721 agcttggcct ttgacccgag tggccagcgc ctggcgtctt gtagtgatga ccgtactgtg
      781 cgtatctggc gtcagtatct accaggcaat gaacaagggg tggcatgcag cggctctgac
      841 cccagttgga aatgtatctg tactttgtcc ggcttccact caaggaccat ttatgacatt
      901 gcttggtgtc agctgacagg ggctctggcc acagcttgtg gggatgacgc gatccgcgtg
      961 tttcaggagg atcccaactc ggatccacag cagcccacct tctccctgac agcccacttg
     1021 catcaggccc attcccagga tgtcaactgt gtggcctgga accccaagga gccagggcta
     1081 ctggcctcct gcagtgatga tggggaggtg gccttctgga agtatcagcg gcctgaaggc
     1141 ctctgagcta cctcgacttt ggacagagta atgactcccc agaaaacgtc atataagact
     1201 ttaccagccc ctgagaggac caggaggagc atccttgacc ttcatttaac ttggctcact
     1261 tctcttcaga cttgggtaga agtgcagagc cacagaattg ctttccttcc ccgcctttga
     1321 catgaggcct tcagtaaaga gctacagaac atgagtacat tgttatacca cagatttttc
     1381 ttgcattagg gcacagtgtt aaattttttg gaggtaaata tactatttat aatcactata
     1441 tatagtagga gggggtatgt gtctcaggct tttctgaagt tgcaagactt aaagaaataa
     1501 tccatctgca tcccaagtcc tattttataa ggatattcat aaaaattcca tggtgaatcc
     1561 ttgtctgaaa taggtcctcc cttcccagtt tctgtgtaag tctttgcatt taagacatcc
     1621 aatcaataat gaaggaaatt tttttctgaa tgtaggtttg agtgaggggc acctctgctt
     1681 tcccttagca accctcatat acctccctgc accgttacgc tgtgatggca actggggata
     1741 gaaaaaaaat ggggaaagac aggaatccta aaagggagag ttattactgg ccacaagccc
     1801 tgtattctca acagggatgc aaattggttc ttcagtaagg ataaaaaaaa atcacaagca
     1861 gttgtttgtg gccctcctaa ggcccacagc acatatagtg tgtctgtgat attccatttt
     1921 catggcaggg agtgatcagg aagaaggctt cctaggggac tggcgattta aaccagttga
     1981 gaaacactgc catcagcagg cagtttcaga ctcactcaag ttgtctcttg acagtcactt
     2041 ctaaatgggt tctaatgtga caatggcctc caaaactaca gccttccctg aagtttaagc
     2101 tgtgacctta gattttagaa ggacagtggg gctgtaccta gaatagtggt tctcgaagaa
     2161 tgcggcctgc agatcctggg agtcccaaga ccctttcagg gaggatctgt gaggtcaact
     2221 gttggcactg tggcatgaat caaggtggtg gcagcaaact tctagtagtt ttgatatgtc
     2281 cttgatagaa caaatagcaa tggttaacta ttaaatgttg acctagccag cgcagtggct
     2341 catgcctgta atcccagcac tttgggaggc tgaggcgggc ggatcacctg aggtcgggag
     2401 ttcgaggcca gcctgaccaa catggagaaa ccccgtctct tctaaaaata caaaattagc
     2461 tgggcatggt ggtgcatgcc tgtaattcca gctactcggg aggctgaggc aagagaatcg
     2521 cttgaatccg gtaggtggag gttgcagtga gccgagatca taccattgca ctccagccca
     2581 ggcaacaaga gtgaaaccct gtctcaaaaa gaaaaaaaaa gttgaccttg agaatttata
     2641 atattctgag aaaactggaa gcatgcataa agcccctctg ctgtgcactg aagtatgggt
     2701 gccttgagga aaagcagtta cacagttgag ttgcaagctg aattggctgt gttcaaggca
     2761 tgccctttag aattgaaaga actagcagat tacggtattt agacttgaat atttggctga
     2821 tattttctgg aaattaatgg aatgagcctc tcacctcaag ggaaacaact gatagtgttg
     2881 ccagtgataa agctttcaag caaaaattgg aatttccgaa aatctgtact ccaccatgag
     2941 ctttattgtt ggggatatta acaaatgtga tttgtataat gaaatgcatt tcatttggaa
     3001 gaattcaatg aaccattttt ccaagtgacc agtacgtgat gttacaaaat catgcatggc
     3061 tcaaagattg attcaaaagt gtaagacagg ccagtggatt ttaatgtatt aacaatataa
     3121 gagtgcatta agttttcgga gtctacattg cctttaagaa actatgactt gtagtaagcc
     3181 gggcgcggtg gctcacgcct gtaatcccaa cactttggga ggccaaggtg ggtggatcac
     3241 aaggtcagga gttcaagacc agcctggcca atatggtgaa agtccgtctc tactaaaatt
     3301 acaaaaatta gccgggcgtg gtggcagatc ccttgtagtc ccagctactc gggaggctga
     3361 ggcaggagaa tagcttgaac ccgggaggtg gaggttgcag tgagtcgaga tcgtgccact
     3421 ggactccagc ctgggtgaca gagcgagact ccatttcaaa aaaaaaaaaa aaaaaaaaaa
     3481 atcacttgta gtcttggtgt ggtatcaaag aatagccaca attagctgaa aaggctattt
     3541 taaaaacttt tccaactgcg tatctgtgtg aagtcaactt acttcaacaa aaaagtttgg
     3601 atgtagaagc agctgtaaga attcaactgt ttattataac aagatactaa agagactgta
     3661 aaatgccacc cttctccttg gattgttttg gaagttattc ttcataaaaa atgttaacgt
     3721 gggctgggca tggtggctca tgcctgtaat cccagcactc tgggaggctg aggtgggcgg
     3781 atcacttgag ctcaggaatt caaggtcagc ctgggcaaca tggctaaact ctgtctctat
     3841 taagaaaaaa aatgttaaca ttatgattta aaagtgcatt aaccttaatc tagataataa
     3901 aagctttttg gggcaacctc cagaactgtg aaaaataaat ttgttattta aaaagaaaaa
     3961 aaaaaaaa
//
