LOCUS       NM_001351279            2242 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transmembrane protein 107 (TMEM107), transcript
            variant 4, mRNA.
ACCESSION   NM_001351279
VERSION     NM_001351279.2
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 2242)
  AUTHORS   Dubaic,M., Peskova,L., Hampl,M., Weissova,K., Celiker,C.,
            Shylo,N.A., Hruba,E., Kavkova,M., Zikmund,T., Weatherbee,S.D.,
            Kaiser,J., Barta,T. and Buchtova,M.
  TITLE     Role of ciliopathy protein TMEM107 in eye development: insights
            from a mouse model and retinal organoid
  JOURNAL   Life Sci Alliance 6 (12), e202302073 (2023)
   PUBMED   37863656
  REMARK    GeneRIF: Role of ciliopathy protein TMEM107 in eye development:
            insights from a mouse model and retinal organoid.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2242)
  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   3  (bases 1 to 2242)
  AUTHORS   Bruel,A.L., Franco,B., Duffourd,Y., Thevenon,J., Jego,L., Lopez,E.,
            Deleuze,J.F., Doummar,D., Giles,R.H., Johnson,C.A., Huynen,M.A.,
            Chevrier,V., Burglen,L., Morleo,M., Desguerres,I., Pierquin,G.,
            Doray,B., Gilbert-Dussardier,B., Reversade,B.,
            Steichen-Gersdorf,E., Baumann,C., Panigrahi,I.,
            Fargeot-Espaliat,A., Dieux,A., David,A., Goldenberg,A., Bongers,E.,
            Gaillard,D., Argente,J., Aral,B., Gigot,N., St-Onge,J.,
            Birnbaum,D., Phadke,S.R., Cormier-Daire,V., Eguether,T.,
            Pazour,G.J., Herranz-Perez,V., Goldstein,J.S., Pasquier,L.,
            Loget,P., Saunier,S., Megarbane,A., Rosnet,O., Leroux,M.R.,
            Wallingford,J.B., Blacque,O.E., Nachury,M.V., Attie-Bitach,T.,
            Riviere,J.B., Faivre,L. and Thauvin-Robinet,C.
  TITLE     Fifteen years of research on oral-facial-digital syndromes: from 1
            to 16 causal genes
  JOURNAL   J Med Genet 54 (6), 371-380 (2017)
   PUBMED   28289185
  REMARK    Review article
REFERENCE   4  (bases 1 to 2242)
  AUTHORS   Shylo,N.A., Christopher,K.J., Iglesias,A., Daluiski,A. and
            Weatherbee,S.D.
  TITLE     TMEM107 Is a Critical Regulator of Ciliary Protein Composition and
            Is Mutated in Orofaciodigital Syndrome
  JOURNAL   Hum Mutat 37 (2), 155-159 (2016)
   PUBMED   26518474
REFERENCE   5  (bases 1 to 2242)
  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   6  (bases 1 to 2242)
  AUTHORS   Shaheen,R., Almoisheer,A., Faqeih,E., Babay,Z., Monies,D.,
            Tassan,N., Abouelhoda,M., Kurdi,W., Al Mardawi,E., Khalil,M.M.,
            Seidahmed,M.Z., Alnemer,M., Alsahan,N., Sogaty,S., Alhashem,A.,
            Singh,A., Goyal,M., Kapoor,S., Alomar,R., Ibrahim,N. and
            Alkuraya,F.S.
  TITLE     Identification of a novel MKS locus defined by TMEM107 mutation
  JOURNAL   Hum Mol Genet 24 (18), 5211-5218 (2015)
   PUBMED   26123494
  REMARK    GeneRIF: This study shows that known MKS loci account for the
            overwhelming majority of MKS cases but additional loci exist
            including MKS13 caused by TMEM107 mutation.
REFERENCE   7  (bases 1 to 2242)
  AUTHORS   Christopher,K.J., Wang,B., Kong,Y. and Weatherbee,S.D.
  TITLE     Forward genetics uncovers Transmembrane protein 107 as a novel
            factor required for ciliogenesis and Sonic hedgehog signaling
  JOURNAL   Dev Biol 368 (2), 382-392 (2012)
   PUBMED   22698544
REFERENCE   8  (bases 1 to 2242)
  AUTHORS   Geisert,E.E., Lu,L., Freeman-Anderson,N.E., Templeton,J.P.,
            Nassr,M., Wang,X., Gu,W., Jiao,Y. and Williams,R.W.
  TITLE     Gene expression in the mouse eye: an online resource for genetics
            using 103 strains of mice
  JOURNAL   Mol Vis 15, 1730-1763 (2009)
   PUBMED   19727342
  REMARK    GeneRIF: TMEM107 (2810049P21Rik) is a strong candidate gene for
            central areolar choroidal dystrophy, CACD (human 17p13). Conclusion
            is based on a massive expression data set for mouse (103 strains in
            GeneNetwork.org) and joint analysis of RetNet database.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2242)
  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   10 (bases 1 to 2242)
  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 AC129492.6.
            
            On May 31, 2019 this sequence version replaced NM_001351279.1.
            
            Summary: This gene encodes a transmembrane protein and component of
            the primary cilia transition zone. The encoded protein regulates
            ciliogenesis and ciliary protein composition. Human fibroblasts
            expressing a mutant allele of this gene exhibit reduced numbers of
            cilia, altered cilia length, and impaired sonic hedgehog signaling.
            In human patients, different mutations in this gene cause different
            ciliopathies, including Meckel-Gruber syndrome and orofaciodigital
            syndrome. [provided by RefSeq, May 2017].
            
            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 :: SRR1803614.122693.1,
                                           SRR3476690.536718.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2155751
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-181               AC129492.6         171076-171256       c
            182-249             AC129492.6         170835-170902       c
            250-350             AC129492.6         170633-170733       c
            351-426             AC129492.6         169417-169492       c
            427-2242            AC129492.6         167333-169148       c
FEATURES             Location/Qualifiers
     source          1..2242
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2242
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /note="transmembrane protein 107"
                     /db_xref="GeneID:84314"
                     /db_xref="HGNC:HGNC:28128"
                     /db_xref="MIM:616183"
     exon            1..181
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..496
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /codon_start=1
                     /product="transmembrane protein 107 isoform 4"
                     /protein_id="NP_001338208.1"
                     /db_xref="GeneID:84314"
                     /db_xref="HGNC:HGNC:28128"
                     /db_xref="MIM:616183"
                     /translation="MGRVSGLVPSRFLTLLAHLVVVITLFWSRDSNIQACLPLTFTPE
                     EYDKQDIQLVAALSVTLGLFAVELAGFLSGVSMFNSTQSLISIGAHCSASVALSFFIF
                     ERWECTTYCALPAVTEMALFVTVFGLKKKPF"
     exon            182..249
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /inference="alignment:Splign:2.1.0"
     exon            250..350
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /inference="alignment:Splign:2.1.0"
     exon            351..426
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /inference="alignment:Splign:2.1.0"
     exon            427..2242
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /inference="alignment:Splign:2.1.0"
     regulatory      677..682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /note="hexamer: AATAAA"
     polyA_site      700
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
     regulatory      1455..1460
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /note="hexamer: AATACA"
     polyA_site      1458
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
ORIGIN      
        1 gttcgtctag atttgtcggc ttgcggggag acttcaggag tcgctgtctc tgaacttcca
       61 gcctcagaga ccgccgccct tgtccccgag ggccatgggc cgggtctcag ggcttgtgcc
      121 ctctcgcttc ctgacgctcc tggcgcatct ggtggtcgtc atcaccttat tctggtcccg
      181 ggacagcaac atacaggcct gcctgcctct cacgttcacc cccgaggagt atgacaagca
      241 ggacattcag ctggtggccg cgctctctgt caccctgggc ctctttgcag tggagctggc
      301 cggtttcctc tcaggagtct ccatgttcaa cagcacccag agcctcatct ccattggggc
      361 tcactgtagt gcatccgtgg ccctgtcctt cttcatattc gagcgttggg agtgcactac
      421 gtattgtgcc cttccagctg tcactgaaat ggctttattc gtcaccgtct ttgggctgaa
      481 aaagaaaccc ttctgattac cttcatgacg ggaacctaag gacgaagcct acaggggcaa
      541 gggccgcttc gtattcctgg aagaaggaag gcataggctt cggttttccc ctcggaaact
      601 gcttctgctg gaggatatgt gttggaataa ttacgtcttg agtctgggat tatccgcatt
      661 gtatttagtg ctttgtaata aaatatgttt tgtagtaaca ttaagactta tatacagttt
      721 taggggacaa ttgagatggc tgaactactg aataaaaaaa aaacaacgct gttttctagt
      781 cctgcagacc gtaagatact tggtatcgct tctattttgg ttactacggt aggtgcctgg
      841 cggaagggag tgggcggaga tatgtaaata gaaagtgcgt acagttagaa cgtccggcac
      901 gtaactgatc ggagcattct gggaagaagt aatttattcc ttttcggcag ccgaatgaaa
      961 aaaaaattta aaaaaatgtg cgagctaata tggcaaaaca actggaagga cgctaaataa
     1021 taggattgct cataccagcg cgttatgaac tcaccctagc ttgtaacgga atctttttca
     1081 ctgagtgcag aatgtcggct gtttgtctgt atcgtcaggt gggataatcc ttacctgttc
     1141 ctcctccgga gggcagatta gaacatgatg attggagatg catgaaacgt gattaacgtc
     1201 tctgcgtaat caggacttgc aacaccctga ttgctcctgt ctgattcttt ctgacgatca
     1261 cttacatttg tgttatgctg attagcagat atccacaaac atagctatga agttctgact
     1321 gggataacct tgctgtttgt ctattttgca gtcttgctat tgctgtttgt ctattttgca
     1381 gtcttgctaa atttgtttgt tcttgaaaat tgtgatttgg tttttgttgc tttctggaat
     1441 ttaggcagtg aaataataca aatgggctct ttgttttttg tcgtttgata actttaatcc
     1501 tcacttctca ggaaacattg cacatcagta aatatctgca gtcttgtgca catggtggtt
     1561 gccctcagga tggtattcaa taggaactgt atttcttttt ccttgaggta gggtcttggt
     1621 ctgtcgccaa ggcaggagtg cacggcgcag atgtatatac atggatacat ttgtttttgg
     1681 agagttggtt gttaaaaatc taccagtaca cccccaagaa actcatcatc accaatgact
     1741 tcttcccaaa tccagagtca cttttcagac ttgagattga cctctcttca gcatatggta
     1801 tgttgaccac ccccctcttt tggttttttt tttttttttt tttgagacag tctcactctg
     1861 ttgcccaggc tagagtgcag tgtgcagtgg tgggatcatg gctcactgca gcctcaaact
     1921 cccaggctca gatgatcctc ctgcatcagc ctcccaagta gctgggacta caggtgagca
     1981 ccaccacacc tggttgtttt aaaatttttc tatagagaca gggtctcact gtgttgccca
     2041 agctggtccc aaactcctgg gctcaagccg tcctccccac taggcctcta ggcctcctaa
     2101 agtgctagga tacaggcatg agccaccgcg tttctcccac tcccctcttt tgcacttttt
     2161 tctcccttag ttttgaaaca gtggttcacc tggtttgcct actattatac tgttctggtt
     2221 gttccttctt acattaattc aa
//
