LOCUS       NM_001410999            1775 bp    mRNA    linear   PRI 23-NOV-2023
DEFINITION  Homo sapiens transmembrane protein 138 (TMEM138), transcript
            variant 6, mRNA.
ACCESSION   NM_001410999 XM_006718585
VERSION     NM_001410999.1
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 1775)
  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 1775)
  AUTHORS   Bizzari S, Hamzeh AR, 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 1775)
  AUTHORS   Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De
            Mori R, Bruel AL, Gaillard D, Doray B, Lopez E, Riviere JB, Faivre
            L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM and Leroux
            MR.
  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 1775)
  AUTHORS   Venkatesh B, Ravi V, Lee AP, Warren WC 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 1775)
  AUTHORS   Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas
            SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan
            CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH,
            Attie-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER,
            Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS and
            Gleeson JG.
  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 1775)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  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 1775)
  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, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   8  (bases 1 to 1775)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW 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_006718585.4.
            
            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 :: SRR14038194.1243397.1,
                                           SRR14038192.108087.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [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
            487-1775            AP003108.3         40111-41399
FEATURES             Location/Qualifiers
     source          1..1775
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     gene            1..1775
                     /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"
     misc_feature    58..60
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="upstream in-frame stop codon"
     CDS             187..720
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="isoform 5 is encoded by transcript variant 6"
                     /codon_start=1
                     /product="transmembrane protein 138 isoform 5"
                     /protein_id="NP_001397928.1"
                     /db_xref="CCDS:CCDS91484.1"
                     /db_xref="GeneID:51524"
                     /db_xref="HGNC:HGNC:26944"
                     /db_xref="MIM:614459"
                     /translation="

MLQTSNYSLVLSLQFLLLSYDLFVNSFSELLQKTPVIQLVLFIIQDIAVLFNIIIIFLMFFNTFVFQAGLVNLLFHKFKGTIILTAVYFALSISLHVWVMNLRWKNSNSFIWTDGLQMLFVFQRLGKDQSKVRPLSGPTCVSFSEGLDAGFPDLSQLAWDGCDSHTRNRRDYCPCPC"

     misc_feature    202..204
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9NPI0.1); glycosylation site"
     misc_feature    205..267
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPI0.1);
                     transmembrane region"
     misc_feature    298..>564
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="Transmembrane protein 138; Region: TMEM138;
                     pfam14935"
                     /db_xref="CDD:434328"
     misc_feature    307..369
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPI0.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPI0.1);
                     transmembrane region"
     exon            315..486
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /inference="alignment:Splign:2.1.0"
     exon            487..1775
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1750..1755
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="hexamer: AATAAA"
     polyA_site      1775
                     /gene="TMEM138"
                     /gene_synonym="HSPC196"
                     /note="major polyA site"
ORIGIN      

ggaagccgggacgatgtccgcatgacaaccgacgttggagtttggaggtgcttgccttagagcaagggaaacagctctcattcaaaggaactagaagcctctccctcagtggtagggagacagccaggagcggttttctgggaactgtgggatgtgcccttgggggcccgagaaaacagaaggaagatgctccagaccagtaactacagcctggtgctctctctgcagttcctgctgctgtcctatgacctctttgtcaattccttctcagaactgctccaaaagactcctgtcatccagcttgtgctcttcatcatccaggatattgcagtcctcttcaacatcatcatcattttcctcatgttcttcaacaccttcgtcttccaggctggcctggtcaacctcctattccataagttcaaagggaccatcatcctgacagctgtgtactttgccctcagcatctcccttcatgtctgggtcatgaacttacgctggaaaaactccaacagcttcatatggacagatggacttcaaatgctgtttgtattccagagactaggtaaggaccagagcaaggtcaggcctctctcaggtcccacatgtgtctctttcagtgagggccttgatgctggcttcccagacctgtcccagctggcttgggatggttgtgacagccacaccaggaacaggagggattactgcccctgcccttgctagaagactatgggaaatgaggaggcagggctgcccagcctcattaggttctgttctttttgtttgtttgtttgtttgtttgtttgtttttgagacagtcttgctctgtcgcccaggctggagtgctgtggcgctatctcaggctcactgcaagctccgcctcccgggttcacaccattctcctgcctcagcctccggagtagctgggactacaggcgcccgccaccacgcccagctaattttttgtgtatttttagtagagacagggtttcaccgtgttagccaggatggtctcgatctctgacctcatgatccgcctgcctctgcctcctaaagtgctgggattacaggcgtgagccaccacgcctggccaggttctgttcttaacctgaaatgatactcaggagcacccctgaggcttctcttctgcttcctccccacagcagcagtgttgtactgctacttctataaacggacagccgtaagactaggcgatcctcacttctaccaggactctttgtggctgcgcaaggagttcatgcaagttcgaaggtgacctcttgtcacactgatggatacttttccttcctgatagaagccacatttgctgctttgcagggagagttggccctatgcatgggcaaacagctggactttccaaggaaggttcagactagctgtgttcagcattcaagaaggaagatcctccctcttgcacaattagagtgtccccatcggtctccagtgcggcatcccttccttgccttctacctctgttccaccccctttccttcctttcctctctgtaccattcattctccctgaccggcctttcttgccgagggttctgtggctcttacccttgtgaagcttttcctttagcctgggacagaaggacctcccagcccccaaaggatctcccagtgaccaaaggatgcgaagagtgatagttacgtgctcctgactgatcacaccgcagacatttagatttttatacccaaggcactttaaaaaaatgttttataaatagagaataaattgaattcttgttccataaa

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