LOCUS       NM_001042463            1423 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens transmembrane protein 80 (TMEM80), transcript variant
            2, mRNA.
ACCESSION   NM_001042463 XM_001129808
VERSION     NM_001042463.3
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 1423)
  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 1423)
  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   3  (bases 1 to 1423)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131934.13.
            
            On Jun 18, 2020 this sequence version replaced NM_001042463.2.
            
            Transcript Variant: This variant (2) includes an alternate 3'
            terminal exon, compared to variant 5. It encodes isoform 2 which is
            shorter and has a distinct C-terminus, compared to isoform 5.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HY111006.1, BI766097.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397510.9/ ENSP00000380646.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AC131934.13        54879-54909         c
            32-51               AC131934.13        51837-51856         c
            52-145              AC131934.13        50490-50583         c
            146-238             AC131934.13        50018-50110         c
            239-1423            AC131934.13        46596-47780         c
FEATURES             Location/Qualifiers
     source          1..1423
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1423
                     /gene="TMEM80"
                     /note="transmembrane protein 80"
                     /db_xref="GeneID:283232"
                     /db_xref="HGNC:HGNC:27453"
                     /db_xref="MIM:620248"
     exon            1..31
                     /gene="TMEM80"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..444
                     /gene="TMEM80"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="transmembrane protein 80 isoform 2"
                     /protein_id="NP_001035928.3"
                     /db_xref="CCDS:CCDS41587.3"
                     /db_xref="GeneID:283232"
                     /db_xref="HGNC:HGNC:27453"
                     /db_xref="MIM:620248"
                     /translation="MAAPRRGRGSSTVLSSVPLQMLFYLSGTYYALYFLATLLMITYK
                     SQVFSYPHRYLVLDLALLFLMGILEAVRLYLGTRGNLTEAERPLAASLALTAGTALLS
                     AHFLLWQALVLWADWALSATLLALHGLEAVLQVVAIAAFTR"
     exon            32..51
                     /gene="TMEM80"
                     /inference="alignment:Splign:2.1.0"
     exon            52..145
                     /gene="TMEM80"
                     /inference="alignment:Splign:2.1.0"
     exon            146..238
                     /gene="TMEM80"
                     /inference="alignment:Splign:2.1.0"
     exon            239..1423
                     /gene="TMEM80"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1396..1401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM80"
                     /note="hexamer: AATAAA"
     polyA_site      1423
                     /gene="TMEM80"
                     /note="major polyA site"
ORIGIN      
        1 ggggcgggta agatggcggc cccgcggcga gggagaggat cctccacagt gctctcttca
       61 gttccccttc aaatgctgtt ttatctcagc ggaacgtact acgccctgta tttcctcgcc
      121 acgctcctga tgatcacgta taaaagtcag gtgttcagct atcctcaccg ctacctggtc
      181 ctcgatcttg ctctgctgtt tctgatgggg attctagaag cagttcggtt atacctgggc
      241 accaggggca acctgacaga ggctgagagg ccgctggccg ccagcctggc cctcacggct
      301 ggcaccgccc tcctctctgc ccacttcctg ctttggcagg ccctagtgtt gtgggcggac
      361 tgggccctca gcgccacgct cctggccctt cacggcctgg aggccgtcct gcaggtggtt
      421 gccatcgcgg ccttcaccag gtagctacgg acacccggga taccccacac tggggccctc
      481 ctcctgggcc tgaccagtcc cccagctgtc acctccccat tcctggacag gaagggcact
      541 tttcctagtg actggccata gatggttttg gatggttcca tctgttctgg caggagtggg
      601 agcaggagcc agggcagaac aaactgctgg aggccctggt gttgggaaca gctgcgggga
      661 gggtagggac cagacagaac tgccttcaag atgagtccca ggagcgcaca ctcagccctg
      721 tcagtggggt ctggctttag cagccaggcc tccacagacc cccatgggcc cccagggccg
      781 agagggagga cagagccctt cagaacagag gcctcatctc actgcatccc ccatcacccc
      841 ctagttcccc aatggtccta atttgtgttc tgagatccca gtttactccg tggccaggcc
      901 ccacctgtgt ttccaagtcg ggctggagac gcaggatggg gtaggccttg tgctctgagc
      961 aaccccagct ctgcctcaca ggcaggcagg cccggtgcaa gagtggactc tgggttccta
     1021 aagcaataaa tgcaaacaag ccaacagctc tgctgcctag caatttccat cttagccaca
     1081 cttctccctt caggggcttc ggaggagagg tcagggctaa ggccggggat gagactgcag
     1141 gagagagagc agcggagggc cacattcgga gcctccgtcc actccagttt tatcagcttt
     1201 tgccttttgc acggagtgct aaacaaattc tagctctgtg tttttttccc attcccagat
     1261 ttactatcag ttctccttaa aaagtatcta agctgttaca gtagctttcc cttcacttga
     1321 ttctattgtg tgttttctat gtttggaata attacaccca aatatctaga tattttctct
     1381 tcaccgcatt ttgtaaataa agagatgtgt atgcctccct gaa
//
