LOCUS       NM_183065               2263 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transmembrane protein 107 (TMEM107), transcript
            variant 2, mRNA.
ACCESSION   NM_183065
VERSION     NM_183065.4
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 2263)
  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 2263)
  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 2263)
  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 2263)
  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 2263)
  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 2263)
  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 2263)
  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 2263)
  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 2263)
  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 2263)
  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 AF311338.1, BC127649.1 and
            AC129492.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_183065.3.
            
            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].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1. The
            resulting isoform (2) has the same N- and C-termini but is shorter
            compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.163327.1,
                                           SRR1803611.201010.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000437139.7/ ENSP00000402732.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AF311338.1         71-77
            8-559               BC127649.1         1-552
            560-2263            AC129492.6         167333-169036       c
FEATURES             Location/Qualifiers
     source          1..2263
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2263
                     /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..517
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="transmembrane protein 107 isoform 2"
                     /protein_id="NP_898888.1"
                     /db_xref="CCDS:CCDS45607.1"
                     /db_xref="GeneID:84314"
                     /db_xref="HGNC:HGNC:28128"
                     /db_xref="MIM:616183"
                     /translation="MGRVSGLVPSRFLTLLAHLVVVITLFWSRDSNIQACLPLTFTPE
                     EYDKQDIQLVAALSVTLGLFAVELAGFLSGVSMFNSTQSLISIGAHCSASVALSFFIF
                     ERWECTTYWYIFVFCSALPAVTEMALFVTVFGLKKKPF"
     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..447
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /inference="alignment:Splign:2.1.0"
     exon            448..2263
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /inference="alignment:Splign:2.1.0"
     regulatory      698..703
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /note="hexamer: AATAAA"
     polyA_site      721
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
     regulatory      1476..1481
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM107"
                     /gene_synonym="GRVS638; JBTS29; MKS13; PRO1268"
                     /note="hexamer: AATACA"
     polyA_site      1479
                     /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 gtattggtac atttttgtct tctgcagtgc ccttccagct gtcactgaaa tggctttatt
      481 cgtcaccgtc tttgggctga aaaagaaacc cttctgatta ccttcatgac gggaacctaa
      541 ggacgaagcc tacaggggca agggccgctt cgtattcctg gaagaaggaa ggcataggct
      601 tcggttttcc cctcggaaac tgcttctgct ggaggatatg tgttggaata attacgtctt
      661 gagtctggga ttatccgcat tgtatttagt gctttgtaat aaaatatgtt ttgtagtaac
      721 attaagactt atatacagtt ttaggggaca attgagatgg ctgaactact gaataaaaaa
      781 aaaacaacgc tgttttctag tcctgcagac cgtaagatac ttggtatcgc ttctattttg
      841 gttactacgg taggtgcctg gcggaaggga gtgggcggag atatgtaaat agaaagtgcg
      901 tacagttaga acgtccggca cgtaactgat cggagcattc tgggaagaag taatttattc
      961 cttttcggca gccgaatgaa aaaaaaattt aaaaaaatgt gcgagctaat atggcaaaac
     1021 aactggaagg acgctaaata ataggattgc tcataccagc gcgttatgaa ctcaccctag
     1081 cttgtaacgg aatctttttc actgagtgca gaatgtcggc tgtttgtctg tatcgtcagg
     1141 tgggataatc cttacctgtt cctcctccgg agggcagatt agaacatgat gattggagat
     1201 gcatgaaacg tgattaacgt ctctgcgtaa tcaggacttg caacaccctg attgctcctg
     1261 tctgattctt tctgacgatc acttacattt gtgttatgct gattagcaga tatccacaaa
     1321 catagctatg aagttctgac tgggataacc ttgctgtttg tctattttgc agtcttgcta
     1381 ttgctgtttg tctattttgc agtcttgcta aatttgtttg ttcttgaaaa ttgtgatttg
     1441 gtttttgttg ctttctggaa tttaggcagt gaaataatac aaatgggctc tttgtttttt
     1501 gtcgtttgat aactttaatc ctcacttctc aggaaacatt gcacatcagt aaatatctgc
     1561 agtcttgtgc acatggtggt tgccctcagg atggtattca ataggaactg tatttctttt
     1621 tccttgaggt agggtcttgg tctgtcgcca aggcaggagt gcacggcgca gatgtatata
     1681 catggataca tttgtttttg gagagttggt tgttaaaaat ctaccagtac acccccaaga
     1741 aactcatcat caccaatgac ttcttcccaa atccagagtc acttttcaga cttgagattg
     1801 acctctcttc agcatatggt atgttgacca cccccctctt ttggtttttt tttttttttt
     1861 ttttgagaca gtctcactct gttgcccagg ctagagtgca gtgtgcagtg gtgggatcat
     1921 ggctcactgc agcctcaaac tcccaggctc agatgatcct cctgcatcag cctcccaagt
     1981 agctgggact acaggtgagc accaccacac ctggttgttt taaaattttt ctatagagac
     2041 agggtctcac tgtgttgccc aagctggtcc caaactcctg ggctcaagcc gtcctcccca
     2101 ctaggcctct aggcctccta aagtgctagg atacaggcat gagccaccgc gtttctccca
     2161 ctcccctctt ttgcactttt ttctccctta gttttgaaac agtggttcac ctggtttgcc
     2221 tactattata ctgttctggt tgttccttct tacattaatt caa
//
