LOCUS       NM_001410997             926 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens transmembrane protein 138 (TMEM138), transcript
            variant 4, mRNA.
ACCESSION   NM_001410997 XM_011545100
VERSION     NM_001410997.1
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 926)
  AUTHORS   Guo,D., Ru,J., Xie,L., Wu,M., Su,Y., Zhu,S., Xu,S., Zou,B., Wei,Y.,
            Liu,X., Liu,Y. and Liu,C.
  TITLE     Tmem138 is localized to the connecting cilium essential for
            rhodopsin localization and outer segment biogenesis
  JOURNAL   Proc Natl Acad Sci U S A 119 (15), e2109934119 (2022)
   PUBMED   35394880
  REMARK    GeneRIF: Tmem138 is localized to the connecting cilium essential
            for rhodopsin localization and outer segment biogenesis.
REFERENCE   2  (bases 1 to 926)
  AUTHORS   Bizzari,S., Hamzeh,A.R., Nair,P., Mohamed,M. and Bastaki,F.
  TITLE     Characterization of an Emirati TMEM138 mutation leading to Joubert
            syndrome
  JOURNAL   Pediatr Int 59 (1), 113-114 (2017)
   PUBMED   28102635
  REMARK    GeneRIF: Here we present clinical and molecular characterization of
            the case of an Emirati boy with Joubert syndrome, probably
            resulting from a splice-site mutation in TMEM138
REFERENCE   3  (bases 1 to 926)
  AUTHORS   Li,C., Jensen,V.L., Park,K., Kennedy,J., Garcia-Gonzalo,F.R.,
            Romani,M., De Mori,R., Bruel,A.L., Gaillard,D., Doray,B., Lopez,E.,
            Riviere,J.B., Faivre,L., Thauvin-Robinet,C., Reiter,J.F.,
            Blacque,O.E., Valente,E.M. and Leroux,M.R.
  TITLE     MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary
            Transition Zone
  JOURNAL   PLoS Biol 14 (3), e1002416 (2016)
   PUBMED   26982032
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 926)
  AUTHORS   Venkatesh,B., Ravi,V., Lee,A.P., Warren,W.C. and Brenner,S.
  TITLE     Basal vertebrates clarify the evolutionary history of
            ciliopathy-associated genes Tmem138 and Tmem216
  JOURNAL   Mol Biol Evol 30 (1), 62-65 (2013)
   PUBMED   22936720
REFERENCE   5  (bases 1 to 926)
  AUTHORS   Lee,J.H., Silhavy,J.L., Lee,J.E., Al-Gazali,L., Thomas,S.,
            Davis,E.E., Bielas,S.L., Hill,K.J., Iannicelli,M., Brancati,F.,
            Gabriel,S.B., Russ,C., Logan,C.V., Sharif,S.M., Bennett,C.P.,
            Abe,M., Hildebrandt,F., Diplas,B.H., Attie-Bitach,T., Katsanis,N.,
            Rajab,A., Koul,R., Sztriha,L., Waters,E.R., Ferro-Novick,S.,
            Woods,C.G., Johnson,C.A., Valente,E.M., Zaki,M.S. and Gleeson,J.G.
  TITLE     Evolutionarily assembled cis-regulatory module at a human
            ciliopathy locus
  JOURNAL   Science 335 (6071), 966-969 (2012)
   PUBMED   22282472
  REMARK    GeneRIF: study reports that mutation of either TMEM138 or TMEM216
            causes a phenotypically indistinguishable ciliopathy, Joubert
            syndrome; expression of the genes is mediated by a conserved
            regulatory element in the noncoding intergenic region
REFERENCE   6  (bases 1 to 926)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   7  (bases 1 to 926)
  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   8  (bases 1 to 926)
  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 AP003108.3.
            
            On Aug 20, 2022 this sequence version replaced XM_011545100.2.
            
            Summary: This gene encodes a multi-pass transmembrane protein.
            Reduced expression of this gene in mouse fibroblasts causes short
            cilia and failure of ciliogenesis. Expression of this gene is
            tightly coordinated with expression of the neighboring gene
            TMEM216. Mutations in this gene are associated with the autosomal
            recessive neurodevelopmental disorder Joubert Syndrome. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Mar 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14243140.6186410.1,
                                           SRR9304715.728344.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                AP003108.3         34562-34608
            48-314              AP003108.3         36440-36706
            315-486             AP003108.3         38233-38404
            487-562             AP003108.3         40111-40186
            563-926             AP003108.3         45231-45594
FEATURES             Location/Qualifiers
     source          1..926
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     gene            1..926
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="transmembrane protein 138"
                     /db_xref="GeneID:51524"
                     /db_xref="HGNC:HGNC:26944"
                     /db_xref="MIM:614459"
     exon            1..47
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /inference="alignment:Splign:2.1.0"
     exon            48..314
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /inference="alignment:Splign:2.1.0"
     CDS             187..570
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="isoform 3 is encoded by transcript variant 4"
                     /codon_start=1
                     /product="transmembrane protein 138 isoform 3"
                     /protein_id="NP_001397926.1"
                     /db_xref="CCDS:CCDS91482.1"
                     /db_xref="GeneID:51524"
                     /db_xref="HGNC:HGNC:26944"
                     /db_xref="MIM:614459"
                     /translation="MLQTSNYSLVLSLQFLLLSYDLFVNSFSELLQKTPVIQLVLFII
                     QDIAVLFNIIIIFLMFFNTFVFQAGLVNLLFHKFKGTIILTAVYFALSISLHVWVMNL
                     RWKNSNSFIWTDGLQMLFVFQRLGL"
     exon            315..486
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /inference="alignment:Splign:2.1.0"
     exon            487..562
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /inference="alignment:Splign:2.1.0"
     exon            563..926
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /inference="alignment:Splign:2.1.0"
     regulatory      907..912
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="hexamer: AATAAA"
     polyA_site      926
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="major polyA site"
ORIGIN      
        1 ggaagccggg acgatgtccg catgacaacc gacgttggag tttggaggtg cttgccttag
       61 agcaagggaa acagctctca ttcaaaggaa ctagaagcct ctccctcagt ggtagggaga
      121 cagccaggag cggttttctg ggaactgtgg gatgtgccct tgggggcccg agaaaacaga
      181 aggaagatgc tccagaccag taactacagc ctggtgctct ctctgcagtt cctgctgctg
      241 tcctatgacc tctttgtcaa ttccttctca gaactgctcc aaaagactcc tgtcatccag
      301 cttgtgctct tcatcatcca ggatattgca gtcctcttca acatcatcat cattttcctc
      361 atgttcttca acaccttcgt cttccaggct ggcctggtca acctcctatt ccataagttc
      421 aaagggacca tcatcctgac agctgtgtac tttgccctca gcatctccct tcatgtctgg
      481 gtcatgaact tacgctggaa aaactccaac agcttcatat ggacagatgg acttcaaatg
      541 ctgtttgtat tccagagact agggctttga ttcctgggtc taagaaggac agcaagtcct
      601 gctaaatgtt aaacactgac ggcaattaaa gccccatctt cacgcccggt agaagatgcc
      661 aatcaaaata aacttcattc ctgaagcacg gggctggaaa atcaaagcta ttcaactcct
      721 caaggcccag ggactatcaa gaaagaggcg gacagatgag attgtaaagg ctgattttga
      781 gagataaaat aagttcagtt tccctataaa ttaatcatta atgtcaaagg cacactgaag
      841 caagaccagc atatgggcct ctgtgtcaga ttaacaaggt tttcttgaag cagtaactga
      901 ctccttaata aaggttataa aagtta
//
