LOCUS       NM_001077418            4247 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens transmembrane protein 231 (TMEM231), transcript
            variant 2, mRNA.
ACCESSION   NM_001077418 NR_074082
VERSION     NM_001077418.3
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 4247)
  AUTHORS   Watson,C.M., Dean,P., Camm,N., Bates,J., Carr,I.M., Gardiner,C.A.
            and Bonthron,D.T.
  TITLE     Long-read nanopore sequencing resolves a TMEM231 gene conversion
            event causing Meckel-Gruber syndrome
  JOURNAL   Hum Mutat 41 (2), 525-531 (2020)
   PUBMED   31663672
  REMARK    GeneRIF: Long-read nanopore sequencing resolves a TMEM231 gene
            conversion event causing Meckel-Gruber syndrome.
REFERENCE   2  (bases 1 to 4247)
  AUTHORS   Maglic,D., Stephen,J., Malicdan,M.C., Guo,J., Fischer,R.,
            Konzman,D., Mullikin,J.C., Gahl,W.A., Vilboux,T. and Gunay-Aygun,M.
  CONSRTM   NISC Comparative Sequencing Program
  TITLE     TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber
            Syndromes in the Same Family
  JOURNAL   Hum Mutat 37 (11), 1144-1148 (2016)
   PUBMED   27449316
  REMARK    GeneRIF: Results identified a rare gene conversion event in
            TMEM231, leading to loss of exon 4, which in combination with
            c.712G>A missense mutation caused Joubert syndrome and in
            combination with c.334T>G missense mutation caused Meckel-Gruber
            syndrome.
REFERENCE   3  (bases 1 to 4247)
  AUTHORS   Lambacher,N.J., Bruel,A.L., van Dam,T.J., Szymanska,K.,
            Slaats,G.G., Kuhns,S., McManus,G.J., Kennedy,J.E., Gaff,K.,
            Wu,K.M., van der Lee,R., Burglen,L., Doummar,D., Riviere,J.B.,
            Faivre,L., Attie-Bitach,T., Saunier,S., Curd,A., Peckham,M.,
            Giles,R.H., Johnson,C.A., Huynen,M.A., Thauvin-Robinet,C. and
            Blacque,O.E.
  TITLE     TMEM107 recruits ciliopathy proteins to subdomains of the ciliary
            transition zone and causes Joubert syndrome
  JOURNAL   Nat Cell Biol 18 (1), 122-131 (2016)
   PUBMED   26595381
REFERENCE   4  (bases 1 to 4247)
  AUTHORS   Roberson,E.C., Dowdle,W.E., Ozanturk,A., Garcia-Gonzalo,F.R.,
            Li,C., Halbritter,J., Elkhartoufi,N., Porath,J.D., Cope,H.,
            Ashley-Koch,A., Gregory,S., Thomas,S., Sayer,J.A., Saunier,S.,
            Otto,E.A., Katsanis,N., Davis,E.E., Attie-Bitach,T.,
            Hildebrandt,F., Leroux,M.R. and Reiter,J.F.
  TITLE     TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes
            the ciliary transition zone
  JOURNAL   J Cell Biol 209 (1), 129-142 (2015)
   PUBMED   25869670
  REMARK    GeneRIF: Tmem231 is critical for organizing the Meckel syndrome
            complex and controlling ciliary composition, defects in which cause
            OFD3 and MKS.
REFERENCE   5  (bases 1 to 4247)
  AUTHORS   Shaheen,R., Ansari,S., Mardawi,E.A., Alshammari,M.J. and
            Alkuraya,F.S.
  TITLE     Mutations in TMEM231 cause Meckel-Gruber syndrome
  JOURNAL   J Med Genet 50 (3), 160-162 (2013)
   PUBMED   23349226
  REMARK    GeneRIF: TMEM231 represents a novel MKS locus. The very recent
            identification of TMEM231 mutations in Joubert syndrome supports
            the growing appreciation of the overlap in the molecular
            pathogenesis between these two ciliopathies.
REFERENCE   6  (bases 1 to 4247)
  AUTHORS   Srour,M., Hamdan,F.F., Schwartzentruber,J.A., Patry,L.,
            Ospina,L.H., Shevell,M.I., Desilets,V., Dobrzeniecka,S.,
            Mathonnet,G., Lemyre,E., Massicotte,C., Labuda,D., Amrom,D.,
            Andermann,E., Sebire,G., Maranda,B., Rouleau,G.A., Majewski,J. and
            Michaud,J.L.
  CONSRTM   FORGE Canada Consortium
  TITLE     Mutations in TMEM231 cause Joubert syndrome in French Canadians
  JOURNAL   J Med Genet 49 (10), 636-641 (2012)
   PUBMED   23012439
  REMARK    GeneRIF: mutations in TMEM231 cause JBTS, reinforcing the
            relationship between this condition and the disruption of the
            barrier at the ciliary transition zone.
REFERENCE   7  (bases 1 to 4247)
  AUTHORS   Chih,B., Liu,P., Chinn,Y., Chalouni,C., Komuves,L.G., Hass,P.E.,
            Sandoval,W. and Peterson,A.S.
  TITLE     A ciliopathy complex at the transition zone protects the cilia as a
            privileged membrane domain
  JOURNAL   Nat Cell Biol 14 (1), 61-72 (2011)
   PUBMED   22179047
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4247)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (bases 1 to 4247)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (bases 1 to 4247)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK025820.1, AC009163.6 and
            BC016401.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001077418.2.
            
            Summary: This gene encodes a transmembrane protein, which is a
            component of the B9 complex involved in the formation of the
            diffusion barrier between the cilia and plasma membrane. Mutations
            in this gene cause Joubert syndrome (JBTS). Multiple alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (2) uses an alternate splice
            junction in the 5' coding region which causes translation
            initiation at an alternate start codon compared to variant 1. The
            encoded isoform (2) is shorter than 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 :: SRR1803616.205418.1,
                                           SRR1803617.192315.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258173.11/ ENSP00000258173.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2089              AK025820.1         7-2095
            2090-2791           AC009163.6         152482-153183       c
            2792-2871           BC016401.1         2458-2537
            2872-4247           AC009163.6         151026-152401       c
FEATURES             Location/Qualifiers
     source          1..4247
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     gene            1..4247
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="transmembrane protein 231"
                     /db_xref="GeneID:79583"
                     /db_xref="HGNC:HGNC:37234"
                     /db_xref="MIM:614949"
     exon            1..182
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /inference="alignment:Splign:2.1.0"
     CDS             44..994
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="transmembrane protein 231 isoform 2"
                     /protein_id="NP_001070886.1"
                     /db_xref="CCDS:CCDS45530.1"
                     /db_xref="GeneID:79583"
                     /db_xref="HGNC:HGNC:37234"
                     /db_xref="MIM:614949"
                     /translation="MALYELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFR
                     SHGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGFLAWSTFPAFNRLQGDRLRVPLV
                     STREEDRNQDGKTDMLHFKLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQ
                     SSFPVPGSQLYVNGDLRLQQKQPLSCGGLDARYNISVINGTSPFAYDYDLTHIVAAYQ
                     ERNVTTVLNDPNPIWLVGRAADAPFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSI
                     LLIFLWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS"
     exon            183..352
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /inference="alignment:Splign:2.1.0"
     exon            353..481
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /inference="alignment:Splign:2.1.0"
     exon            482..625
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /inference="alignment:Splign:2.1.0"
     exon            626..707
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /inference="alignment:Splign:2.1.0"
     exon            708..813
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /inference="alignment:Splign:2.1.0"
     exon            814..4247
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2665..2670
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="hexamer: ATTAAA"
     polyA_site      2684
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="major polyA site"
     regulatory      2847..2852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="hexamer: AATAAA"
     polyA_site      2866
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
     regulatory      4226..4231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="hexamer: TATAAA"
     polyA_site      4247
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
ORIGIN      
        1 aaacttggtc ccccggctcg cggagtgcct gcgagcggtg ctcatggcgc tctatgagct
       61 cttctctcac ccggtcgagc gcagttaccg cgcggggctc tgctccaaag ccgcgctgtt
      121 cctgctgctg gccgctgcgc tcacgtacat cccgccgctg ctggtggcct tccggagcca
      181 cgggttttgg ctgaagcgga gcagctacga ggagcagccg accgtgcgct tccaacacca
      241 ggtgctgctc gtggccctgc tcggacccga aagcgacggg ttcctcgcct ggagcacgtt
      301 ccccgccttc aaccggctgc aaggggatcg cctgcgcgtc ccgctcgttt cgactagaga
      361 agaagacagg aaccaggatg ggaagacgga catgttacat tttaagctgg agcttcccct
      421 gcagtccacg gagcacgttc tcggtgtgca gctcatcctg actttctcct atcgattaca
      481 caggatggcg accctcgtga tgcagagcat ggcgtttctc cagtcctcct ttcctgtccc
      541 gggatcccag ttatacgtga acggagacct gaggctgcag cagaagcagc cgctgagctg
      601 tggtggccta gatgcccgat acaacatatc cgtgatcaac gggaccagcc cctttgccta
      661 tgactacgac ctcacccata ttgttgctgc ctaccaggag aggaacgtta ccaccgtcct
      721 gaatgatccc aaccccatct ggctggtggg cagggccgca gatgctccat ttgtgattaa
      781 tgctatcatc cgataccctg tggaagtcat ttcttatcag ccaggattct gggagatggt
      841 aaagttcgcc tgggtgcagt atgtcagcat cctgcttatc ttcctctggg tgtttgaaag
      901 aatcaagatc ttcgtgtttc agaatcaggt ggtgaccacc attcctgtga cagtgacgcc
      961 ccggggagac ttgtgtaagg agcacttatc ctagaaaggc catttctgaa gactcagcag
     1021 gaccgtggct gcctcattgt catcttctgg gaacatctta ggaccttttg aaagagccca
     1081 gcggacacct gcgggcttgt gtgcttttcc ctcagagaca acggttcttt ccggttttgc
     1141 tctacacagt tccgtatctt cagagctcct gcagaattgt cagggactag tttgtggaaa
     1201 ggtctgagag ttcctggagg ctataattag ctttttgggt tttccttctt tgccttagcg
     1261 ttgaatttca ggagaaaatt gcagtcagtt cagacatctt ggaaagagtc ccatctctgg
     1321 tcaagcagag acttttcctc tgttgaactg aggaacacac tgtgcatttc taccttctgt
     1381 tgtgagccac tcttactctt ttcagggctc tcttgtgaca aacatgccaa tcactagcac
     1441 tttgcacccc tgggcttctc catttcccat tcacagcttt gatttccaga gctgaggcct
     1501 ttaactggag acctggaggg gcagggccca agggcaaggg ccgcattagc acaggcaatc
     1561 agggagggcc gctgaaggac acttggaccg tccacctgcc ccagcccaac agtcagtcat
     1621 ctgtcatcag ctcagctgag cagccctgga tctttgccgt actgtgactg ggctctttgc
     1681 cctatttttc cctctgtctg tgcccctgga tggcaggctg aagtcagagg ggctgtttca
     1741 ttctcagccc cctcagcagc actgggggaa gaaagcattg tcacaacagg ttctttctgg
     1801 ccctcaccca acagcctggg cacttggccc tcctcctcct tgacagccct cccccttcct
     1861 gcaaaggaca ggggcgacag gggttggtgt tgggattggc tcccgctgcc tgacaaccac
     1921 aagtttattt ggaaggctag cgggaagccc agcggctggc gtttcccttg actaaggaac
     1981 agggtgccca tcagagtggg gcgggcagct ttgggaagga cacaagaagc agtaagagtg
     2041 taaagaggat gctggcctgg gcaggccagt ccagcctggc cactagcaga ataccaagca
     2101 gtccagtgga ttaccctcgt ggctaagcaa gtgtctgcag gagcagagat ggctggaagg
     2161 ggcctctgca cacggaagat ggcttgttca gcccattcac ctcctgagga tgtgggcagt
     2221 ctcctccaag aacacatgga gctgcttcct gatcccaagc aggtcattgc cactggaagg
     2281 acatggcccc ggtgatccat gcttcatgcc cacccagaaa cacacccctc agtgtgtgcc
     2341 tcagtttact ttggagatca gttgtcgttt ttagtgctcc tttaggctta ctaaaacagt
     2401 tttggaaaca aagctatttt gaagtattca agcagaggaa ttccctaaca ctgaccccct
     2461 tgtctttttt taatattcag gctgttttat atgcctaaat ttttttctta agatctaaac
     2521 gaaaaatagt ttcttgttta aattcacata aggcaatgag atatggaaag atgacaagat
     2581 acgtataaac attggtttgc attttattaa attattctaa tgcaaatctt gtataaagaa
     2641 cccatgatgt tttgtaactt tctaattaaa atgttcaaaa tgaggccgag catggtggtt
     2701 cattcctgta atctcaacac tttgggaggc caaggtggga ggatcacttg agcccaggag
     2761 cttgaggctg cagtgtgcta tgattgcacc actgtactgt agcctgggtg acagagtgag
     2821 accctatctg ttaaaataaa taaataaata aataaaaaag tcaaaatgga agatcacatg
     2881 tacctttttc gagggaaagg gtttggaatg gcaaagaata gggagggcag aggttgcaca
     2941 cacctgtctt tattactcat ctacagccat gctttacaag gctctgccta acgaccttgg
     3001 aacttccatg aggtctttgg tgaaagtccc ctagttcttc cccaggtaga tgagttttca
     3061 gtgggattca catgccatgt gaaatctacg tgttggataa ttatgactgt gtctggtgaa
     3121 tatgaaatta tttacagacc agatgttgat agtttctgac tctgaatcac agcatagctg
     3181 caagaggtaa ataaaaagca agaggccggg agcggtggct cacgcctgta atcccagcac
     3241 tttgggaggc cgaggtgggt gaatcacaag gtcaggagat cgagaccatc ctggccaaca
     3301 tggtgaaacc ccatctccac taaaaataca aaaattggct gggtgtggcg acacgtgcct
     3361 gtcatcccaa ctatttagta ggctgaggca ggagaatcgc ttgaaccctg gaggcggagg
     3421 ttgcagtgag ccgagattgc gccactgcac tccagcctgg caacagagct agactccgtc
     3481 tcaaaaaaaa aaaaaaaaag aaatatagag gattttatta actcagctcc gacccatagc
     3541 taagttaagg tttgatgtta ttactgaata tttggaggca gaaagactcc tgattttgcc
     3601 aaatgattag tacagtttcg gcttaagtca gatgaggccc ccctaatatt ccatcatgta
     3661 aggctaataa agcaattatt tctttttttt ttttccttcc aacttttatt gtagactcat
     3721 ggggtatatg tatgggtttc gtatatagct aaattgtaca acctgggggt ttggtgtaca
     3781 gattatttca tcacccacgt aataagcata gtacccagta ggtggttttt cttttctttt
     3841 tctttttctt tttttttttt ttttttgaga cagagtctca ctctgttacc caggctggag
     3901 tgcagcagca tgatctcagc tcattgcagc ctctacctcc caggttcaag tgattctcct
     3961 gccttaccct cccgagtagc tgggattacg ggtgcccacc accatgcccg gctaattttt
     4021 gtgtttttag tagagacagg gcttcaccct ggtggtcagg ctggtctcga actcctgacc
     4081 tcaagtgatc catccgcttt ggccacccaa agtgctggga tcacagcagt ttgatcacag
     4141 aagttattat ggttggcatt ctggcacaca tctttctaat cttttttgtt gtatgtaacc
     4201 tttttagtat cacaaacaac acttttataa accttgtgta gaaatca
//
