LOCUS       NM_001146336            1618 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens transmembrane protein 114 (TMEM114), transcript
            variant 1, mRNA.
ACCESSION   NM_001146336 XM_001716059 XM_002343415 XM_002344949 XM_002348265
            XM_208930 XR_039173
VERSION     NM_001146336.2
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 1618)
  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   2  (bases 1 to 1618)
  AUTHORS   Gai,D., Nicholl,J., Waters,W., Barnett,C.P. and Yu,S.
  TITLE     Interstitial deletion at chromosome 16p13.2 involving TMEM114
            (transmembrane protein 114) in a boy and his father without
            cataract
  JOURNAL   Am J Med Genet A 164A (3), 834-836 (2014)
   PUBMED   24357539
REFERENCE   3  (bases 1 to 1618)
  AUTHORS   't Hart,L.M., Fritsche,A., Nijpels,G., van Leeuwen,N.,
            Donnelly,L.A., Dekker,J.M., Alssema,M., Fadista,J., Carlotti,F.,
            Gjesing,A.P., Palmer,C.N., van Haeften,T.W., Herzberg-Schafer,S.A.,
            Simonis-Bik,A.M., Houwing-Duistermaat,J.J., Helmer,Q., Deelen,J.,
            Guigas,B., Hansen,T., Machicao,F., Willemsen,G., Heine,R.J.,
            Kramer,M.H., Holst,J.J., de Koning,E.J., Haring,H.U., Pedersen,O.,
            Groop,L., de Geus,E.J., Slagboom,P.E., Boomsma,D.I., Eekhoff,E.M.,
            Pearson,E.R. and Diamant,M.
  TITLE     The CTRB1/2 locus affects diabetes susceptibility and treatment via
            the incretin pathway
  JOURNAL   Diabetes 62 (9), 3275-3281 (2013)
   PUBMED   23674605
REFERENCE   4  (bases 1 to 1618)
  AUTHORS   Vanita,V. and Singh,D.
  TITLE     A missense mutation in CRYGD linked with autosomal dominant
            congenital cataract of aculeiform type
  JOURNAL   Mol Cell Biochem 368 (1-2), 167-172 (2012)
   PUBMED   22669729
REFERENCE   5  (bases 1 to 1618)
  AUTHORS   Maher,G.J., Hilton,E.N., Urquhart,J.E., Davidson,A.E.,
            Spencer,H.L., Black,G.C. and Manson,F.D.
  TITLE     The cataract-associated protein TMEM114, and TMEM235, are
            glycosylated transmembrane proteins that are distinct from claudin
            family members
  JOURNAL   FEBS Lett 585 (14), 2187-2192 (2011)
   PUBMED   21689651
  REMARK    GeneRIF: Data demonstrate that TMEM114, and the closely related
            TMEM235, are closely related to members of the voltage dependent
            calcium channel gamma subunit family.
REFERENCE   6  (bases 1 to 1618)
  AUTHORS   Mihelec,M., St Heaps,L., Flaherty,M., Billson,F., Rudduck,C.,
            Tam,P.P., Grigg,J.R., Peters,G.B. and Jamieson,R.V.
  TITLE     Chromosomal rearrangements and novel genes in disorders of eye
            development, cataract and glaucoma
  JOURNAL   Twin Res Hum Genet 11 (4), 412-421 (2008)
   PUBMED   18637741
  REMARK    Review article
REFERENCE   7  (bases 1 to 1618)
  AUTHORS   Jamieson,R.V., Farrar,N., Stewart,K., Perveen,R., Mihelec,M.,
            Carette,M., Grigg,J.R., McAvoy,J.W., Lovicu,F.J., Tam,P.P.,
            Scambler,P., Lloyd,I.C., Donnai,D. and Black,G.C.
  TITLE     Characterization of a familial t(16;22) balanced translocation
            associated with congenital cataract leads to identification of a
            novel gene, TMEM114, expressed in the lens and disrupted by the
            translocation
  JOURNAL   Hum Mutat 28 (10), 968-977 (2007)
   PUBMED   17492639
  REMARK    GeneRIF: TMEM114 has a role in mammalian cataract formation
REFERENCE   8  (bases 1 to 1618)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from FO181539.6, AC137777.3 and
            AC074052.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 8, 2021 this sequence version replaced NM_001146336.1.
            
            Summary: This gene encodes a glycosylated transmembrane protein
            that plays a role in lens and eye development. Mutations in this
            gene, including a t(16;22)(p13.3;q11.2) translocation, are
            associated with congenital and juvenile cataract disorders.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, Feb 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). The extent of the
            5' terminal exon of this variant is supported by orthologous
            transcript alignments and data in PMID:17492639.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BF727259.1, BE467208.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000620492.5/ ENSP00000484263.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-893               FO181539.6         4677-5569           c
            894-974             FO181539.6         4271-4351           c
            975-1091            AC137777.3         7102-7218
            1092-1112           AC074052.6         188438-188458       c
            1113-1618           AC074052.6         185851-186356       c
FEATURES             Location/Qualifiers
     source          1..1618
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.2"
     gene            1..1618
                     /gene="TMEM114"
                     /note="transmembrane protein 114"
                     /db_xref="GeneID:283953"
                     /db_xref="HGNC:HGNC:33227"
                     /db_xref="MIM:611579"
     exon            1..893
                     /gene="TMEM114"
                     /inference="alignment:Splign:2.1.0"
     CDS             674..1345
                     /gene="TMEM114"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="transmembrane protein 114 isoform a"
                     /protein_id="NP_001139808.1"
                     /db_xref="CCDS:CCDS73825.1"
                     /db_xref="GeneID:283953"
                     /db_xref="HGNC:HGNC:33227"
                     /db_xref="MIM:611579"
                     /translation="MRVHLGGLAGAAALTGALSFVLLAAAIGTDFWYIIDTERLERTG
                     PGAQDLLGSINRSQPEPLSSHSGLWRTCRVQSPCTPLMNPFRLENVTVSESSRQLLTM
                     HGTFVILLPLSLILMVFGGMTGFLSFLLQAYLLLLLTGILFLFGAMVTLAGISVYIAY
                     SAAAFREALCLLEEKALLDQVDISFGWSLALGWISFIAELLTGAAFLAAARELSLRRR
                     QDQAI"
     exon            894..974
                     /gene="TMEM114"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1112
                     /gene="TMEM114"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1618
                     /gene="TMEM114"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1595..1600
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM114"
                     /note="hexamer: AATAAA"
     polyA_site      1618
                     /gene="TMEM114"
                     /note="major polyA site"
ORIGIN      
        1 actccgagct tttcctcggc gaggaggagg gctcagaggg tcagctgcgc cccggccaga
       61 gcaggagctg cgggaagacc ctggagagca gggctgggag tggggatctg gcagtgtggg
      121 gccaagaaaa agggctgggg cggaaatcca gagacagagg cagagagggg agcatctggg
      181 atcgtgggga gggttcgtgg agagtgaggc aggggaatgg agggagtagg agtctgggga
      241 aagtgaggat tttgaagtga gagagtccgc ttgggctggg cgtggagggc cgagggtgga
      301 gtggggctga gggacgaggt gggttaaggt gctggtgggg aaggactaga gcttccagga
      361 gggtctgaag gcggaggtgg aggtcggaca gcacaagtga gagtgagggg gtctgcaggt
      421 agagctggca ttggaggggt gggaacgtgg acggcggctg agcggggggc gcgtgcaggt
      481 cggagccggc aggtgaggag ccagggtcta agctagggcc cggggtccaa aggaaaggct
      541 ttcagatctg agctccgcgg ctctggcggc ggtggagctg ggagcccgcg gtggccggct
      601 ggggacgggg gcaggagcag aggggtcgcg ccgcggccac tggaacccgc ggctgctggt
      661 cctgggctcg gcgatgcggg tgcacctggg cgggctggcc ggcgcggctg cgctgaccgg
      721 ggcgctcagc tttgtgctcc tggcggccgc catcggcacg gacttctggt atatcattga
      781 caccgagcgg ctggagagga ctggcccggg ggcgcaggac ctgctggggt ccatcaatcg
      841 cagccagccc gagcctctga gctcccactc cggcctctgg cggacctgcc gggtgcagag
      901 cccgtgcaca ccgctgatga accccttcag gctggagaac gtgacagtca gcgaatcgag
      961 ccggcaactt ctcaccatgc atgggacatt tgtgattctg ctgccgctca gcctgatcct
     1021 gatggttttt ggggggatga cggggtttct gagcttcctc ctccaagcct acctcctcct
     1081 cctgctcact ggaattctct tcctctttgg agccatggtg accctcgctg ggatcagcgt
     1141 ctacatagcg tattcagccg ccgccttccg ggaggcgctg tgtctcttgg aggagaaggc
     1201 cctcctggac caggtggaca tcagcttcgg ctggtccctg gccctgggct ggatcagctt
     1261 catcgccgag ctgctcaccg gggcagcctt cctggcagca gcccgcgagc tcagcctgag
     1321 acggaggcag gaccaggcca tatgagcctg ggcgctgggt cgtggagggg agggaggggc
     1381 ttggccccgg agcttcaccg accgatctcc atcggctgcg gcctcttctt cctcaaaggc
     1441 cactcgggga ggccaggcac ccccctcctt cccccacaaa tccccgcgga ctaagcttgg
     1501 ggcctggctg ttatcctagt acctgtgtgc ttatgtccgt gtgtgtccgt gtggcctgga
     1561 ggagcccgag ggagtgccaa accgcttcgc gagaaataaa aacgatcctt taatcaca
//
