LOCUS       NM_001352759            2110 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens armadillo repeat containing 9 (ARMC9), transcript
            variant 9, mRNA.
ACCESSION   NM_001352759
VERSION     NM_001352759.2
KEYWORDS    RefSeq.
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 2110)
  AUTHORS   Lo,C.H., Liu,Z., Chen,S., Lin,F., Berneshawi,A.R., Yu,C.Q.,
            Koo,E.B., Kowal,T.J., Ning,K., Hu,Y., Wang,W.J., Liao,Y.J. and
            Sun,Y.
  TITLE     Primary cilia formation requires the Leigh syndrome-associated
            mitochondrial protein NDUFAF2
  JOURNAL   J Clin Invest 134 (13), e175560 (2024)
   PUBMED   38949024
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2110)
  AUTHORS   Latour,B.L., Van De Weghe,J.C., Rusterholz,T.D., Letteboer,S.J.,
            Gomez,A., Shaheen,R., Gesemann,M., Karamzade,A., Asadollahi,M.,
            Barroso-Gil,M., Chitre,M., Grout,M.E., van Reeuwijk,J., van
            Beersum,S.E., Miller,C.V., Dempsey,J.C., Morsy,H., Bamshad,M.J.,
            Nickerson,D.A., Neuhauss,S.C., Boldt,K., Ueffing,M.,
            Keramatipour,M., Sayer,J.A., Alkuraya,F.S., Bachmann-Gagescu,R.,
            Roepman,R. and Doherty,D.
  CONSRTM   University of Washington Center for Mendelian Genomics; Genomics
            England Research Consortium
  TITLE     Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes
            Joubert syndrome
  JOURNAL   J Clin Invest 130 (8), 4423-4439 (2020)
   PUBMED   32453716
REFERENCE   3  (bases 1 to 2110)
  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   4  (bases 1 to 2110)
  AUTHORS   Ohno,T., Meguro,A., Takeuchi,M., Yamane,T., Teshigawara,T.,
            Kitaichi,N., Horie,Y., Namba,K., Ohno,S., Nakao,K., Sakamoto,T.,
            Sakai,T., Nakano,T., Keino,H., Okada,A.A., Takeda,A., Fukuhara,T.,
            Mashimo,H., Ohguro,N., Oono,S., Enaida,H., Okinami,S. and Mizuki,N.
  TITLE     Association Study of ARMC9 Gene Variants with Vogt-Koyanagi-Harada
            Disease in Japanese Patients
  JOURNAL   Ocul Immunol Inflamm 27 (5), 699-705 (2019)
   PUBMED   30395750
  REMARK    GeneRIF: Our study suggests that ARMC9 variants do not play a
            critical role in the development of Vogt-Koyanagi disease.
REFERENCE   5  (bases 1 to 2110)
  AUTHORS   Kar,A., Phadke,S.R., Das Bhowmik,A. and Dalal,A.
  TITLE     Whole exome sequencing reveals a mutation in ARMC9 as a cause of
            mental retardation, ptosis, and polydactyly
  JOURNAL   Am J Med Genet A 176 (1), 34-40 (2018)
   PUBMED   29159890
  REMARK    GeneRIF: Our report of variant in ARMC9 Leading to Joubert syndrome
            phenotype (JS30), elucidates the genetic heterogeneity of Joubert
            syndrome, and expands the gene list for ciliopathies.
REFERENCE   6  (bases 1 to 2110)
  AUTHORS   Van De Weghe,J.C., Rusterholz,T.D.S., Latour,B., Grout,M.E.,
            Aldinger,K.A., Shaheen,R., Dempsey,J.C., Maddirevula,S.,
            Cheng,Y.H., Phelps,I.G., Gesemann,M., Goel,H., Birk,O.S.,
            Alanzi,T., Rawashdeh,R., Khan,A.O., Bamshad,M.J., Nickerson,D.A.,
            Neuhauss,S.C.F., Dobyns,W.B., Alkuraya,F.S., Roepman,R.,
            Bachmann-Gagescu,R. and Doherty,D.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Mutations in ARMC9, which Encodes a Basal Body Protein, Cause
            Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
  JOURNAL   Am J Hum Genet 101 (1), 23-36 (2017)
   PUBMED   28625504
  REMARK    GeneRIF: ARMC9 localizes to the basal body of the cilium and is
            upregulated during ciliogenesis.
REFERENCE   7  (bases 1 to 2110)
  AUTHORS   Rubicz,R., Yolken,R., Alaedini,A., Drigalenko,E.,
            Charlesworth,J.C., Carless,M.A., Severance,E.G., Krivogorsky,B.,
            Dyer,T.D., Kent,J.W. Jr., Curran,J.E., Johnson,M.P., Cole,S.A.,
            Almasy,L., Moses,E.K., Blangero,J. and Goring,H.H.
  TITLE     Genome-wide genetic and transcriptomic investigation of variation
            in antibody response to dietary antigens
  JOURNAL   Genet Epidemiol 38 (5), 439-446 (2014)
   PUBMED   24962563
REFERENCE   8  (bases 1 to 2110)
  AUTHORS   Del-Aguila,J.L., Beitelshees,A.L., Cooper-Dehoff,R.M.,
            Chapman,A.B., Gums,J.G., Bailey,K., Gong,Y., Turner,S.T.,
            Johnson,J.A. and Boerwinkle,E.
  TITLE     Genome-wide association analyses suggest NELL1 influences adverse
            metabolic response to HCTZ in African Americans
  JOURNAL   Pharmacogenomics J 14 (1), 35-40 (2014)
   PUBMED   23400010
REFERENCE   9  (bases 1 to 2110)
  AUTHORS   Chubb,D., Weinhold,N., Broderick,P., Chen,B., Johnson,D.C.,
            Forsti,A., Vijayakrishnan,J., Migliorini,G., Dobbins,S.E.,
            Holroyd,A., Hose,D., Walker,B.A., Davies,F.E., Gregory,W.A.,
            Jackson,G.H., Irving,J.A., Pratt,G., Fegan,C., Fenton,J.A.,
            Neben,K., Hoffmann,P., Nothen,M.M., Muhleisen,T.W., Eisele,L.,
            Ross,F.M., Straka,C., Einsele,H., Langer,C., Dorner,E., Allan,J.M.,
            Jauch,A., Morgan,G.J., Hemminki,K., Houlston,R.S. and
            Goldschmidt,H.
  TITLE     Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences
            multiple myeloma risk
  JOURNAL   Nat Genet 45 (10), 1221-1225 (2013)
   PUBMED   23955597
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009407.8 and AC018738.4.
            
            On Jun 2, 2019 this sequence version replaced NM_001352759.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.247305.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                AC009407.8         184259-184326
            69-160              AC009407.8         191825-191916
            161-286             AC009407.8         193754-193879
            287-397             AC009407.8         200458-200568
            398-457             AC018738.4         1-60
            458-613             AC018738.4         1697-1852
            614-706             AC018738.4         7787-7879
            707-731             AC018738.4         11833-11857
            732-889             AC018738.4         20283-20440
            890-988             AC018738.4         25002-25100
            989-1023            AC018738.4         41645-41679
            1024-1135           AC018738.4         44050-44161
            1136-1228           AC018738.4         47365-47457
            1229-1319           AC018738.4         56041-56131
            1320-1443           AC018738.4         58014-58137
            1444-1583           AC018738.4         61695-61834
            1584-1660           AC018738.4         63441-63517
            1661-1735           AC018738.4         67118-67192
            1736-1826           AC018738.4         76412-76502
            1827-1882           AC018738.4         81257-81312
            1883-2110           AC018738.4         130033-130260
FEATURES             Location/Qualifiers
     source          1..2110
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2110
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /note="armadillo repeat containing 9"
                     /db_xref="GeneID:80210"
                     /db_xref="HGNC:HGNC:20730"
                     /db_xref="MIM:617612"
     exon            1..68
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            69..160
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..2002
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /note="isoform 4 is encoded by transcript variant 9; lisH
                     domain-containing protein ARMC9;
                     armadillo/beta-catenin-like repeats; melanoma/melanocyte
                     specific protein KU-MEL-1; melanoma/melanocyte-specific
                     tumor antigen KU-MEL-1; armadillo repeat-containing
                     protein 9"
                     /codon_start=1
                     /product="lisH domain-containing protein ARMC9 isoform 4"
                     /protein_id="NP_001339688.2"
                     /db_xref="CCDS:CCDS92969.1"
                     /db_xref="GeneID:80210"
                     /db_xref="HGNC:HGNC:20730"
                     /db_xref="MIM:617612"
                     /translation="MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCK
                     TVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEEHISSSIRDGDSFAQKLEFYLHI
                     HFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVH
                     PSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLV
                     EAERRSVTYLKRYNKIQADYHNLIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSN
                     QMRQSLAHSVDFTRPGTASTMLRASLAPVKLKDVPLLPSLDYEKLKKDLILGSDRLKA
                     FLLQALRWRLTTSHPGEQRETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMA
                     RLINAFASLAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRENVLGALQKFSLRRPLQT
                     AMIQDGLIFWLVDVLKDPDCLSDYTLEYSVALLMNLCLRSTGKNMCAKVAGLVLKVLS
                     DLLGHENHEIQPYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMIRQIEFI
                     IKQLNSEELPDGVLESDDDEDEDDEIMTNTGKTRRKGLANVQWSGDEPLQRPVTPGGH
                     RNGYPV"
     exon            161..286
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            287..457
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            458..613
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            614..706
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            707..731
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            732..889
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            890..988
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1023
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1135
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            1136..1228
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1319
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1443
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1583
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            1584..1660
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            1661..1735
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            1736..1826
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            1827..1882
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     exon            1883..2110
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2086..2091
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /note="hexamer: AATAAA"
     polyA_site      2110
                     /gene="ARMC9"
                     /gene_synonym="ARM; JBTS30; KU-MEL-1; NS21"
                     /note="major polyA site"
ORIGIN      
        1 gcccgggtga cggctgcgga ggtggcggcc gggctgggat agcgcgagtg tccgcggccg
       61 agcagcagag atttttgctg tgagaattaa ttaccagtaa cagttcaata tgggggacat
      121 tctggctcat gaatctgaat tacttggact agtgaaagag tatttagatt ttgctgaatt
      181 tgaagacacc ttgaaaacat tttcaaaaga atgcaaaata aaaggaaaac cattgtgtaa
      241 aacagtaggc ggatctttca gagactccaa atcattgaca attcagaagg atcttgtcgc
      301 tgcatttgac aacggagacc agaaggtgtt cttcgatctg tgggaggagc acatttcaag
      361 ttccatccga gatggggact cctttgccca gaagctggaa ttctatctcc acatccattt
      421 tgccatctat cttttgaagt actctgtggg gagaccggac aaagaggagc tggatgaaaa
      481 gatttcctac ttcaaaacct acctggagac caaaggggca gccttgagcc agaccacaga
      541 gtttcttcct ttctatgccc ttccttttgt tcccaaccct atggtgcacc cctcatttaa
      601 agaactcttc caggattcct ggactccaga gttaaagttg aagttgataa agtttctagc
      661 tttaatatct aaagccagca acacgccaaa gcttttaaca atatataagg agaatggaca
      721 aagtaacaaa gaaatcttgc agcagctcca ccagcagctg gttgaagctg aacgtaggtc
      781 agtgacatac ctcaaacggt acaataagat ccaggccgac taccacaatc tcattggagt
      841 cacagcagag ctggtggatt ctctagaggc cacagtcagc ggcaagatga tcacccctga
      901 gtacctccag agcgtctgtg tccgcctgtt cagtaaccag atgcggcaga gcctggcgca
      961 tagtgtggac ttcacgaggc ctgggacggc atccaccatg ttacgagcct ccttggcacc
     1021 cgtgaaattg aaggatgtcc cattactgcc ctccttggat tatgagaaac tgaagaagga
     1081 tttgattttg gggagtgacc gcttgaaagc cttcttgttg caggctctgc gctggcgctt
     1141 gaccacatcc catcctggag agcagaggga gaccgttctg caagcctaca tcagcaatga
     1201 cctcttggac tgttatagcc acaaccagag gagtgtgctt cagttgctgc actccacgag
     1261 cgacgtggtg cggcagtaca tggccaggct catcaatgct tttgcgtcac tggcagaagg
     1321 tcgcctctac cttgcccaga acacaaaggt gctgcagatg ctggagggaa ggctgaagga
     1381 ggaggacaag gatatcatca ccagggagaa tgttcttggg gccctgcaga agttcagtct
     1441 caggcgcccg ctgcagacag cgatgattca agacggcctc atcttctggc tggttgatgt
     1501 tctgaaggac cctgactgcc tgtctgacta cacgctggag tactcggtgg ctttgctcat
     1561 gaacctctgc ctccgcagca cagggaagaa catgtgtgcc aaggtggcag gcctcgtgct
     1621 caaagtcctt tcggatcttc ttggccatga aaaccatgag atacagccgt atgtgaatgg
     1681 agctctgtac agcatccttt ctgttccatc cattcgtgag gaagcaagag caatgggaat
     1741 ggaagacatc ctacgctgct tcatcaaaga aggcaatgct gaaatgatcc gccagataga
     1801 attcatcatc aagcagctaa attccgaaga gctaccagat ggtgttcttg aatctgatga
     1861 tgatgaagat gaagatgatg aaatcatgac caacacgggg aagacaaggc ggaaggggct
     1921 ggctaatgtg cagtggagcg gggatgagcc cctgcaaagg cccgtcaccc ccggcggcca
     1981 cagaaacggg tacccagtgt aagtcagggc taaaggaagc gggaattgac tttcttaagc
     2041 tttgttttga ttacagtgta agatgtatgt atttttaaaa ttcaaaataa agcattcatt
     2101 ttgaaaagca
//
