LOCUS       NM_173494               1677 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens dynein axonemal assembly factor 6 (DNAAF6), transcript
            variant 2, mRNA.
ACCESSION   NM_173494
VERSION     NM_173494.2
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 1677)
  AUTHORS   Thomas,L., Cuisset,L., Papon,J.F., Tamalet,A., Pin,I., Abou
            Taam,R., Faucon,C., Montantin,G., Tissier,S., Duquesnoy,P.,
            Dastot-Le Moal,F., Copin,B., Carion,N., Louis,B.,
            Chantot-Bastaraud,S., Siffroi,J.P., Mitri,R., Coste,A.,
            Escudier,E., Thouvenin,G., Amselem,S. and Legendre,M.
  TITLE     Skewed X-chromosome inactivation drives the proportion of
            DNAAF6-defective airway motile cilia and variable expressivity in
            primary ciliary dyskinesia
  JOURNAL   J Med Genet 61 (6), 595-604 (2024)
   PUBMED   38408845
  REMARK    GeneRIF: Skewed X-chromosome inactivation drives the proportion of
            DNAAF6-defective airway motile cilia and variable expressivity in
            primary ciliary dyskinesia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1677)
  AUTHORS   Tian,T., Bi,H., Zhang,D., Liu,Y., Sun,H., Jia,C., Zheng,T.,
            Huang,H., Fu,J., Zhu,L. and Zhao,Y.
  TITLE     Methylation of three genes encoded by X chromosome in blood
            leukocytes and colorectal cancer risk
  JOURNAL   Cancer Med 10 (14), 4964-4976 (2021)
   PUBMED   34145793
  REMARK    GeneRIF: Methylation of three genes encoded by X chromosome in
            blood leukocytes and colorectal cancer risk.
REFERENCE   3  (bases 1 to 1677)
  AUTHORS   Huang,C., Liu,N.C., Wang,X.B., Gu,B.H., Zhang,J.X., Li-Zhang and
            Li,Z.
  TITLE     Novel deletion mutations of the PIH1D3 gene in an infertile young
            man with primary ciliary dyskinesia and his cousin with
            Kartagener's syndrome
  JOURNAL   Asian J Androl 23 (3), 330-332 (2021)
   PUBMED   33106461
  REMARK    GeneRIF: Novel deletion mutations of the PIH1D3 gene in an
            infertile young man with primary ciliary dyskinesia and his cousin
            with Kartagener's syndrome.
REFERENCE   4  (bases 1 to 1677)
  AUTHORS   Wang,S., Li,B., Chen,Y., Zhou,Z. and Bao,R.
  TITLE     [Analysis of PIH1D3 variant in a Chinese pedigree affected with
            primary ciliary dyskinesia]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 37 (9), 1021-1024 (2020)
   PUBMED   32820521
  REMARK    GeneRIF: [Analysis of PIH1D3 variant in a Chinese pedigree affected
            with primary ciliary dyskinesia].
REFERENCE   5  (bases 1 to 1677)
  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   6  (bases 1 to 1677)
  AUTHORS   Yamaguchi,H., Oda,T., Kikkawa,M. and Takeda,H.
  TITLE     Systematic studies of all PIH proteins in zebrafish reveal their
            distinct roles in axonemal dynein assembly
  JOURNAL   Elife 7, e36979 (2018)
   PUBMED   29741156
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1677)
  AUTHORS   Olcese,C., Patel,M.P., Shoemark,A., Kiviluoto,S., Legendre,M.,
            Williams,H.J., Vaughan,C.K., Hayward,J., Goldenberg,A., Emes,R.D.,
            Munye,M.M., Dyer,L., Cahill,T., Bevillard,J., Gehrig,C.,
            Guipponi,M., Chantot,S., Duquesnoy,P., Thomas,L., Jeanson,L.,
            Copin,B., Tamalet,A., Thauvin-Robinet,C., Papon,J.F., Garin,A.,
            Pin,I., Vera,G., Aurora,P., Fassad,M.R., Jenkins,L., Boustred,C.,
            Cullup,T., Dixon,M., Onoufriadis,A., Bush,A., Chung,E.M.,
            Antonarakis,S.E., Loebinger,M.R., Wilson,R., Armengot,M.,
            Escudier,E., Hogg,C., Amselem,S., Sun,Z., Bartoloni,L., Blouin,J.L.
            and Mitchison,H.M.
  CONSRTM   UK10K Rare Group
  TITLE     X-linked primary ciliary dyskinesia due to mutations in the
            cytoplasmic axonemal dynein assembly factor PIH1D3
  JOURNAL   Nat Commun 8, 14279 (2017)
   PUBMED   28176794
  REMARK    GeneRIF: Study propose that PIH1D3 is part of a complementary
            conserved R2TP-like HSP90 co-chaperone complex, the loss of which
            affects assembly of a subset of inner arm dyneins.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1677)
  AUTHORS   Paff,T., Loges,N.T., Aprea,I., Wu,K., Bakey,Z., Haarman,E.G.,
            Daniels,J.M.A., Sistermans,E.A., Bogunovic,N., Dougherty,G.W.,
            Hoben,I.M., Grosse-Onnebrink,J., Matter,A., Olbrich,H., Werner,C.,
            Pals,G., Schmidts,M., Omran,H. and Micha,D.
  TITLE     Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with
            Outer and Inner Dynein Arm Defects
  JOURNAL   Am J Hum Genet 100 (1), 160-168 (2017)
   PUBMED   28041644
  REMARK    GeneRIF: Mutations in PIH1D3 Cause X-Linked Primary Ciliary
            Dyskinesia with Outer and Inner Dynein Arm Defects
REFERENCE   9  (bases 1 to 1677)
  AUTHORS   Dong,F., Shinohara,K., Botilde,Y., Nabeshima,R., Asai,Y.,
            Fukumoto,A., Hasegawa,T., Matsuo,M., Takeda,H., Shiratori,H.,
            Nakamura,T. and Hamada,H.
  TITLE     Pih1d3 is required for cytoplasmic preassembly of axonemal dynein
            in mouse sperm
  JOURNAL   J Cell Biol 204 (2), 203-213 (2014)
   PUBMED   24421334
REFERENCE   10 (bases 1 to 1677)
  AUTHORS   Lee,S.Y., Obata,Y., Yoshida,M., Stockert,E., Williamson,B.,
            Jungbluth,A.A., Chen,Y.T., Old,L.J. and Scanlan,M.J.
  TITLE     Immunomic analysis of human sarcoma
  JOURNAL   Proc Natl Acad Sci U S A 100 (5), 2651-2656 (2003)
   PUBMED   12601173
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136112.10 and BC033510.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_173494.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            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 :: BC033510.1, SRR7410570.693163.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372453.8/ ENSP00000361531.3
            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
            1-21                AL136112.10        11557-11577
            22-1673             BC033510.1         1-1652
            1674-1677           AL136112.10        49190-49193
FEATURES             Location/Qualifiers
     source          1..1677
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.3"
     gene            1..1677
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /note="dynein axonemal assembly factor 6"
                     /db_xref="GeneID:139212"
                     /db_xref="HGNC:HGNC:28570"
                     /db_xref="MIM:300933"
     exon            1..80
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /inference="alignment:Splign:2.1.0"
     exon            81..236
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..728
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /note="sarcoma antigen NY-SAR-97; PIH1 domain-containing
                     protein 3; protein PIH1D3; PIH1 domain containing 3;
                     dynein assembly factor 6, axonemal"
                     /codon_start=1
                     /product="dynein axonemal assembly factor 6"
                     /protein_id="NP_775765.1"
                     /db_xref="CCDS:CCDS14528.1"
                     /db_xref="GeneID:139212"
                     /db_xref="HGNC:HGNC:28570"
                     /db_xref="MIM:300933"
                     /translation="MESENMDSENMKTENMESQNVDFESVSSVTALEALSKLLNPEEE
                     DDSDYGQTNGLSTIGAMGPGNIGPPQIEELKVIPETSEENNEDIWNSEEIPEGAEYDD
                     MWDVREIPEYEIIFRQQVGTEDIFLGLSKKDSSTGCCSELVAKIKLPNTNPSDIQIDI
                     QETILDLRTPQKKLLITLPELVECTSAKAFYIPETETLEITMTMKRELDIANFF"
     exon            237..309
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /inference="alignment:Splign:2.1.0"
     exon            310..415
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /inference="alignment:Splign:2.1.0"
     exon            416..512
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /inference="alignment:Splign:2.1.0"
     exon            513..598
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /inference="alignment:Splign:2.1.0"
     exon            599..1677
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /inference="alignment:Splign:2.1.0"
     regulatory      774..779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /note="hexamer: ATTAAA"
     polyA_site      794
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /note="major polyA site"
     regulatory      1439..1444
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /note="hexamer: AATAAA"
     polyA_site      1459
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
     regulatory      1648..1653
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
                     /note="hexamer: AATAAA"
     polyA_site      1677
                     /gene="DNAAF6"
                     /gene_synonym="CILD36; CXorf41; NYSAR97; PIH1D3; TWISTER"
ORIGIN      
        1 gttaccctag caacggagag acgccacgct ctgcacagtc tattttcgga gcctagccag
       61 agacgggaaa actgaccaag ataatggaat ctgaaaatat ggattctgaa aatatgaaga
      121 cagaaaatat ggaatctcaa aatgtagact ttgagagtgt ttcttcagtt acagctctgg
      181 aagccctctc taagctactt aatcctgaag aagaggatga ttctgactat ggacagacaa
      241 atggtttatc tactattgga gccatgggtc ctgggaatat tggaccaccc caaatagaag
      301 agctcaaagt catccctgaa accagcgagg aaaataatga ggacatctgg aattcagaag
      361 agattccaga aggagcagaa tatgatgata tgtgggatgt tagagaaatc ccagagtatg
      421 agattatatt cagacagcag gtgggaactg aagatatatt tttagggttg tcaaaaaagg
      481 actcctcaac aggttgttgc agtgaactag tggctaaaat taaattgcca aatacaaacc
      541 cttctgatat tcaaattgat atccaggaaa caatccttga ccttcgtact cctcagaaga
      601 agctgttgat aactcttcct gagctggtgg aatgtaccag tgccaaagca ttctatatcc
      661 cagagactga aactcttgaa atcactatga ctatgaaaag agagttagat attgctaatt
      721 tcttctgaaa ctgcatgaaa aagataaaaa gtagtaaaat ggcattggta acaattaaaa
      781 aactttgaaa aaaatgattg ttttctatat tctctttatt attctgacat atttttgaaa
      841 gggacaaaat tcagttctag tgatattgtg accatttaca gtaatttcta ttactctgtt
      901 aggaaatatg tttccttggc caggtgcaat ggctcatgcc tgtaatccca acactttggg
      961 aggccgaagc aggcggatca cttgaggtca ggagtttgag accagcctgg tcaacatggc
     1021 gaaaccctgt ctctactaaa aatacgaaaa ttagcctggc gtggtggcag gtgcctgtaa
     1081 tcccagctac tctgtctcaa aaaacaaaca aaaaaaggaa atatgttttc ttatgtaaat
     1141 aaactattct atttttatag tgatagctga gtagaatctt tacaggttaa aaaattagaa
     1201 tatttcatgg tcaattacat aattgaaata tgatcatgaa atggttggtc cacttacttc
     1261 agtagtctga aaaacttatg ctaattattt acatttacac tgtgatacaa tcagttgcat
     1321 agcaattggt cattattatt accagagaat tttatttggt tgctttttca ttgatttgag
     1381 caaatgattt acagtgttct ctgtttaggc tctcactgtt gttctggaat atacaggtaa
     1441 taaatagttt gatgtaccat actatcaaca tatttacttg agtaaggaac acttttgtgc
     1501 gtacagtatt atttggcttc ttcagttgtg cttttaatgc ttggatatag ttaggttaaa
     1561 aacatttttt atatgcacta ataattatta gcattgcctt tttgggtact gtatttatat
     1621 gtagtcaatt gaaatccttg actttaaaat aaatttaaag tgtggcacat ttacaaa
//
