LOCUS       NM_001170754            2798 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens ciliated left-right organizer protein containing ZP-N
            domains (CIROZ), transcript variant 1, mRNA.
ACCESSION   NM_001170754 XM_005263428
VERSION     NM_001170754.2
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 2798)
  AUTHORS   Szenker-Ravi,E., Ott,T., Yusof,A., Chopra,M., Khatoo,M., Pak,B.,
            Xuan Goh,W., Beckers,A., Brady,A.F., Ewans,L.J., Djaziri,N.,
            Almontashiri,N.A.M., Alghamdi,M.A., Alharby,E., Dasouki,M.,
            Romo,L., Tan,W.H., Maddirevula,S., Alkuraya,F.S., Giordano,J.L.,
            Alkelai,A., Wapner,R.J., Stals,K., Alfadhel,M., Alswaid,A.F.,
            Bogusch,S., Schafer-Kosulya,A., Vogel,S., Vick,P., Schweickert,A.,
            Wakeling,M., Moreau de Bellaing,A., Alshamsi,A.M., Sanlaville,D.,
            Mbarek,H., Saad,C., Ellard,S., Eisenhaber,F., Tripolszki,K.,
            Beetz,C., Bauer,P., Gossler,A., Eisenhaber,B., Blum,M.,
            Bouvagnet,P., Bertoli-Avella,A., Amiel,J., Gordon,C.T. and
            Reversade,B.
  TITLE     CIROZ is dispensable in ancestral vertebrates but essential for
            left-right patterning in humans
  JOURNAL   Am J Hum Genet 112 (2), 353-373 (2025)
   PUBMED   39753129
REFERENCE   2  (bases 1 to 2798)
  AUTHORS   Alsamri,M.T., Alabdouli,A., Iram,D., Alkalbani,A.M.,
            Almarzooqi,A.S., Souid,A.K. and Vijayan,R.
  TITLE     A Study on the Genetics of Primary Ciliary Dyskinesia
  JOURNAL   J Clin Med 10 (21), 5102 (2021)
   PUBMED   34768622
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2798)
  AUTHORS   Li,R., Brockschmidt,F.F., Kiefer,A.K., Stefansson,H., Nyholt,D.R.,
            Song,K., Vermeulen,S.H., Kanoni,S., Glass,D., Medland,S.E.,
            Dimitriou,M., Waterworth,D., Tung,J.Y., Geller,F., Heilmann,S.,
            Hillmer,A.M., Bataille,V., Eigelshoven,S., Hanneken,S., Moebus,S.,
            Herold,C., den Heijer,M., Montgomery,G.W., Deloukas,P.,
            Eriksson,N., Heath,A.C., Becker,T., Sulem,P., Mangino,M.,
            Vollenweider,P., Spector,T.D., Dedoussis,G., Martin,N.G.,
            Kiemeney,L.A., Mooser,V., Stefansson,K., Hinds,D.A., Nothen,M.M.
            and Richards,J.B.
  TITLE     Six novel susceptibility Loci for early-onset androgenetic alopecia
            and their unexpected association with common diseases
  JOURNAL   PLoS Genet 8 (5), e1002746 (2012)
   PUBMED   22693459
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL358492.19.
            
            On Apr 28, 2021 this sequence version replaced NM_001170754.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968540
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377004.9/ ENSP00000366203.4
            RefSeq Select criteria :: based on manual assertion, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                AL358492.19        122914-122978       c
            66-166              AL358492.19        117058-117158       c
            167-286             AL358492.19        110872-110991       c
            287-411             AL358492.19        107260-107384       c
            412-555             AL358492.19        105030-105173       c
            556-594             AL358492.19        99616-99654         c
            595-732             AL358492.19        98518-98655         c
            733-817             AL358492.19        97925-98009         c
            818-1014            AL358492.19        95892-96088         c
            1015-1138           AL358492.19        94921-95044         c
            1139-1329           AL358492.19        90526-90716         c
            1330-2531           AL358492.19        88545-89746         c
            2532-2798           AL358492.19        87377-87643         c
FEATURES             Location/Qualifiers
     source          1..2798
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..2798
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /note="ciliated left-right organizer protein containing
                     ZP-N domains"
                     /db_xref="GeneID:148345"
                     /db_xref="HGNC:HGNC:26730"
                     /db_xref="MIM:619700"
     exon            1..65
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..2511
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; uncharacterized protein C1orf127"
                     /codon_start=1
                     /product="uncharacterized protein C1orf127 isoform 1
                     precursor"
                     /protein_id="NP_001164225.1"
                     /db_xref="CCDS:CCDS53267.1"
                     /db_xref="GeneID:148345"
                     /db_xref="HGNC:HGNC:26730"
                     /db_xref="MIM:619700"
                     /translation="MWGSPALAWAVWLACVQPTVFPWSLSFRSDTDKPSSAAEVLTEA
                     SSCWTDTVECFSDYMTLWIPRSHVEGLRRWLARTLHLPGTWRSPDHLDSSLAKCGYFL
                     HLASDGDFLFRVQYSACFVQKEKANYRLEIRIFQKGVMGLERSDRYIMKCPMLRSRLG
                     QESVHCGPMFIQVSRPLPLWRDNRQTPWLLSLRGELVASLEDASLMGLYVDMNATTVT
                     VQSPRQGLLQRWEVLNTSAELLPLWLVSGHHAYSLEAACPPVSFQPESEVLVHIPKQR
                     LGLVKRGSYIEETLSLRFLRVHQSNIFMVTENKDFVVVSIPAAGVLQVQRCQEVGGTP
                     GTQAFYRVDLSLEFAEMAAPVLWTVESFFQCVGSGTESPASTAALRTTPSPPSPGPET
                     PPAGVPPAASSQVWAAGPAAQEWLSRDLLHRPSDALAKKGLGPFLQTAKPARRGQTSA
                     SILPRVVQAQRGPQPPPGEAGIPGHPTPPATLPSEPVEGVQASPWRPRPVLPTHPALT
                     LPVSSDASSPSPPAPRPERPESLLVSGPSVTLTEGLGTVRPEQDPAKSPGSPLLLRGL
                     SSGDVAAPEPIMGEPGQASEEFQPLARPWRATLAAEELVSHRSPGEPQETCSGTEVER
                     PRQTGPGLPREGARGHMDLSSSEPSQDIEGPGLSILPARDATFSTPSVRQPDPSAWLS
                     SGPELTGMPRVRLAAPLAVLPMEPLPPEPVRPAALLTPEASSVGGPDQARYLESAPGW
                     PVGQEEWGVAHTSSPPSTQTLSLWAPTGVLLPSLVELEYPFQAGRGASLQQELTEPTL
                     ALSAESHRPPELQDSVEGLSERPSR"
     exon            66..166
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            167..286
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            287..411
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            412..555
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            556..594
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            595..732
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            733..817
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            818..1014
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1138
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1329
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..2531
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     exon            2532..2798
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2779..2784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /note="hexamer: AATAAA"
     polyA_site      2798
                     /gene="CIROZ"
                     /gene_synonym="C1orf127; HTX14"
                     /note="major polyA site"
ORIGIN      
        1 aaattctccc agggcaggag agagctgctg ggcctgagga tgtgggggtc cccagcactt
       61 gcctgggccg tctggcttgc ctgtgttcag cccacggtgt tcccatggag cctctccttc
      121 aggtcagaca cggacaagcc aagctctgca gcagaagttt taacagaagc atcttcttgt
      181 tggacagaca cagttgagtg cttctcagac tacatgaccc tgtggatccc aaggagccac
      241 gtggaggggc tgaggcggtg gctggccagg accttgcact tgccaggcac ctggaggtcc
      301 cctgaccacc tggattcttc tcttgctaaa tgtggctact tcctgcatct ggcttcagac
      361 ggtgacttcc tttttcgagt tcaatactcg gcctgctttg tgcagaaaga gaaagcaaat
      421 tacaggctgg aaatcagaat atttcagaaa ggggtgatgg ggttggagcg gagtgatcgc
      481 tacataatga agtgtccgat gctaaggtca aggctgggcc aggaaagcgt ccactgtggg
      541 cccatgttca tccaggtctc ccggcccctg cccctgtgga gggacaatag acagactcca
      601 tggctgctgt cccttcgagg ggagctggtg gcttctcttg aagacgccag cctgatggga
      661 ctgtatgtgg acatgaatgc caccactgtc accgtccaaa gcccgagaca aggccttctt
      721 cagaggtggg aggtgctgaa cacctctgct gagctcctgc cactatggct ggtgagcggt
      781 caccatgcct attctttaga agctgcttgc ccaccggtgt cattccagcc agagtcggag
      841 gtcttagttc acatccccaa gcagagactg ggtctagtca aaagaggttc ctacattgag
      901 gaaaccctga gcctcagatt cctccgagtc caccagtcca acatctttat ggtgactgag
      961 aacaaggact ttgtggtggt cagcattccg gcggccgggg tgctccaggt ccagcgatgc
     1021 caagaagtcg gaggaacccc gggaacacaa gctttctata gggtagacct gagcctggaa
     1081 tttgccgaga tggctgcccc ggtcctctgg acagtggaga gcttcttcca gtgtgtgggt
     1141 tcaggaacag agtcgcctgc ctcaactgct gcactgagga ccactccctc cccaccatcc
     1201 ccaggaccag agacccctcc agcgggagtg ccacctgctg cttcctccca ggtgtgggct
     1261 gcaggaccag ctgcccagga atggctttct cgggacctcc tgcaccggcc ttccgacgca
     1321 ctggccaaaa aggggcttgg accattcctg caaacagcca aaccggcgag aagaggccag
     1381 acatctgcct ccattctccc cagagtggtg caagctcagc gaggtcccca gcctccccca
     1441 ggggaagcag ggatccctgg acaccccaca cctccagcca cgctcccctc ggagcctgta
     1501 gagggtgtcc aggctagtcc ctggcggcca cgtccagtct tgccaacgca cccggctctg
     1561 accctgcccg tgtcctcaga tgcctcctct ccttcaccgc cagccccgag gcctgaacga
     1621 cctgaatcac ttctggtctc aggaccatct gtcaccctga ctgaaggtct aggaactgtg
     1681 aggcctgaac aggaccccgc caagtctcca ggaagtcccc tcctgctgag aggcttgtca
     1741 agcggggatg tggctgcacc tgagcccatc atgggggagc ccggccaagc cagtgaggag
     1801 ttccagccat tggcgaggcc ctggcgggcc acactggctg cagaggagct ggtttctcac
     1861 cgttctcccg gagagcccca ggaaacgtgc tctggaacgg aggtggagag gccacgccag
     1921 acagggcctg gtctccccag ggagggggcc agggggcaca tggacctttc atcctcagaa
     1981 ccaagccagg acatagaggg gccgggactc tccatcctgc cagcgaggga tgccacattc
     2041 tccaccccaa gtgtgaggca gccagacccc agtgcctggc tgagttcagg acctgaactc
     2101 accgggatgc ccagggtgag gctggcagcg cccctggcag ttcttcctat ggaacctctg
     2161 ccaccagaac ctgttcgccc agcagctctt ctgacacccg aagcctcatc tgtgggaggg
     2221 ccagaccagg cccgatacct ggagtcagcc cctggctggc ctgtgggcca ggaggagtgg
     2281 ggggttgcac acacgtccag ccctccatcc acgcaaaccc tgagcctgtg ggctcccaca
     2341 ggagtgttgc tacccagcct ggtggagctt gaatacccct tccaggctgg ccggggggcc
     2401 tcactccagc aggagctgac agagcccacc ttggccctca gtgctgaaag ccacaggcct
     2461 cctgagcttc aagacagtgt ggaggggctt tctgagaggc cctcacgctg agcctccatg
     2521 gagactccag gcagccggta ccccgctggc ttggacagcc ccagtgaccc tcagtgaccc
     2581 agctgtcccc aggctccctg gcttagatgc ccagctgtgg ctgggtacag tgttctgggc
     2641 cggaagagca ctcactcagt gcttccctgg aaaggtggac ccccagacgc ccacctccag
     2701 gcagacccat cactggaagt gggatttgaa atgcagccaa gaagaggaga ccgtcggcaa
     2761 cgcccgcccg gaacaagaaa taaataaata aataatca
//
