LOCUS       NM_032256               2775 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens transmembrane protein 117 (TMEM117), transcript
            variant 1, mRNA.
ACCESSION   NM_032256
VERSION     NM_032256.3
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 2775)
  AUTHORS   Tamaki,T., Kamatsuka,K., Sato,T., Morooka,S., Otsuka,K., Hattori,M.
            and Sugiyama,T.
  TITLE     A novel transmembrane protein defines the endoplasmic reticulum
            stress-induced cell death pathway
  JOURNAL   Biochem Biophys Res Commun 486 (1), 149-155 (2017)
   PUBMED   28285135
  REMARK    GeneRIF: Data suggest that transmembrane protein 117 (TMEM117)
            probably mediates the signalling of mitochondrial membrane
            potential (DeltaPsim) loss in endoplasmic reticulum (ER)
            stress-mediated mitochondria cell death.
REFERENCE   2  (bases 1 to 2775)
  AUTHORS   Burgi,J., Xue,B., Uversky,V.N. and van der Goot,F.G.
  TITLE     Intrinsic Disorder in Transmembrane Proteins: Roles in Signaling
            and Topology Prediction
  JOURNAL   PLoS One 11 (7), e0158594 (2016)
   PUBMED   27391701
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2775)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB477248.1 and AL136855.1.
            
            On Nov 23, 2018 this sequence version replaced NM_032256.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC060798.1, SRR1803617.110205.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266534.8/ ENSP00000266534.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                DB477248.1         221-298
            79-2775             AL136855.1         1-2697
FEATURES             Location/Qualifiers
     source          1..2775
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..2775
                     /gene="TMEM117"
                     /note="transmembrane protein 117"
                     /db_xref="GeneID:84216"
                     /db_xref="HGNC:HGNC:25308"
     exon            1..116
                     /gene="TMEM117"
                     /inference="alignment:Splign:2.1.0"
     exon            117..421
                     /gene="TMEM117"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..1689
                     /gene="TMEM117"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="transmembrane protein 117 isoform a"
                     /protein_id="NP_115632.1"
                     /db_xref="CCDS:CCDS8745.1"
                     /db_xref="GeneID:84216"
                     /db_xref="HGNC:HGNC:25308"
                     /translation="MGKDFRYYFQHPWSRMIVAYLVIFFNFLIFAEDPVSHSQTEANV
                     IVVGNCFSFVTNKYPRGVGWRILKVLLWLLAILTGLIAGKFLFHQRLFGQLLRLKMFR
                     EDHGSWMTMFFSTILFLFIFSHIYNTILLMDGNMGAYIITDYMGIRNESFMKLAAVGT
                     WMGDFVTAWMVTDMMLQDKPYPDWGKSARAFWKKGNVRITLFWTVLFTLTSVVVLVIT
                     TDWISWDKLNRGFLPSDEVSRAFLASFILVFDLLIVMQDWEFPHFMGDVDVNLPGLHT
                     PHMQFKIPFFQKIFKEEYRIHITGKWFNYGIIFLVLILDLNMWKNQIFYKPHEYGQYI
                     GPGQKIYTVKDSESLKDLNRTKLSWEWRSNHTNPRTNKTYVEGDMFLHSRFIGASLDV
                     KCLAFVPSLIAFVWFGFFIWFFGRFLKNEPRMENQDKTYTRMKRKSPSEHSKDMGITR
                     ENTQASVEDPLNDPSLVCIRSDFNEIVYKSSHLTSENLSSQLNESTSATEADQDPTTS
                     KSTPTN"
     exon            422..554
                     /gene="TMEM117"
                     /inference="alignment:Splign:2.1.0"
     exon            555..654
                     /gene="TMEM117"
                     /inference="alignment:Splign:2.1.0"
     exon            655..752
                     /gene="TMEM117"
                     /inference="alignment:Splign:2.1.0"
     exon            753..912
                     /gene="TMEM117"
                     /inference="alignment:Splign:2.1.0"
     exon            913..1042
                     /gene="TMEM117"
                     /inference="alignment:Splign:2.1.0"
     exon            1043..2775
                     /gene="TMEM117"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2754..2759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM117"
                     /note="hexamer: AATAAA"
     polyA_site      2775
                     /gene="TMEM117"
                     /note="major polyA site"
ORIGIN      
        1 agcgacgccg ccggcccgtc tcgccgcgct tcccagcgag gccgccggcg cgccgagggc
       61 tgtgctcgac cgcgaatccc gtgtgcagtc gccccgcgcc ccgcgcgacc cttcgggtaa
      121 actacgaact gggagttctg aagaatgggt aaagactttc gttactattt ccagcatccc
      181 tggtctcgca tgattgtggc ttacttggtg atcttcttta acttcttaat atttgcggag
      241 gacccagttt ctcatagcca aacagaagcc aatgttattg ttgttggaaa ctgtttttca
      301 tttgttacaa ataaataccc tagaggagtt ggctggagga ttttgaaggt gcttctatgg
      361 ctacttgcca ttctcacagg actaatagct ggcaaatttc tgttccatca gcgtttgttt
      421 ggtcagttgc tccgattaaa aatgtttcga gaagatcatg ggtcgtggat gacaatgttc
      481 ttcagcacaa ttctctttct cttcatattt tctcacatat acaacacgat tcttctaatg
      541 gatgggaaca tgggagcata tatcattaca gactatatgg gcatccgaaa tgaaagtttc
      601 atgaaattag ctgcagtagg gacctggatg ggggactttg tcacagcttg gatggtcact
      661 gatatgatgc ttcaggacaa accctatcct gactggggaa aatcagcaag agctttctgg
      721 aagaaaggaa atgttaggat cactttattc tggacagttc tttttactct gacgtctgtg
      781 gttgtacttg tgattacaac ggactggatc agctgggaca agctgaatcg gggatttttg
      841 cccagtgatg aagtttccag agcattcctt gcttctttta tcttggtctt tgaccttctt
      901 attgtgatgc aggactggga attcccacat ttcatgggag atgttgatgt aaatctccct
      961 ggtttgcaca cccctcacat gcagttcaag attcctttct tccagaaaat cttcaaggag
     1021 gaatatcgta ttcacataac aggcaaatgg tttaactatg gaattatctt cctcgtcttg
     1081 attttggatc ttaatatgtg gaagaaccaa atattttata aacctcatga atatgggcaa
     1141 tatatcggcc cggggcagaa gatatataca gtgaaagact cagaaagttt aaaagatttg
     1201 aacagaacca agctatcctg ggaatggagg tccaatcaca ctaaccctcg gactaataaa
     1261 acatatgttg agggagacat gttcttacac agcaggttca taggagccag tcttgatgtc
     1321 aagtgtctgg cctttgttcc aagcctgata gcctttgtgt ggtttggatt ctttatttgg
     1381 ttctttggac gatttttgaa aaatgagcca cgcatggaga atcaagacaa aacttacact
     1441 cgcatgaaaa gaaaatctcc atcagaacat agcaaagaca tgggaatcac tcgagaaaac
     1501 acccaggctt cagtagaaga ccccttgaat gacccttctt tggtttgcat caggtctgac
     1561 ttcaatgaga tcgtctacaa gtcttcccac ctaacctcgg aaaacttgag ctcacagttg
     1621 aacgaatcta ctagtgcaac agaagctgat caagacccaa cgacttctaa aagtacacct
     1681 acgaactaga ctcggagata gacttggaga taacacaaaa agcaaccttg agtgtaactt
     1741 taaaaattta gtctttcctt ttgtatatgt aaggtttacg tagtgttagg taaaaatatg
     1801 aacaatgcca caacggtgct caacatgctt tttctaggat tcattgtttt ctatttgtat
     1861 tataatacac gtgcctactg tatactcaac agtcctctag agattgcttt tcacaattgc
     1921 acaagctatt actgacttta cagcatagtg gaagattagc tgatgaccca tgtatctgat
     1981 gttcaaccat agtggtgcct tgagacatta aactgttttt aactgtacca gaaatgaagt
     2041 gtggaacagt tacctaacct atttcacatg ggcgttttgt atacaactat tttgatctac
     2101 acttgatgtc tgagcagaaa acagaaatag ctaaatgtga ctcaggaagt atctcttggt
     2161 ttcttattca gcagcagagt tggtgacttt gacaactgga ctgcagagaa acatggtgat
     2221 caccttttaa tttttattgg ctgtctgcca aatataaata cagatgcaaa attcagtaat
     2281 aggagatcca taacccaaca tgggtcacta ctcgtgaaat gtgactttct cccaccagta
     2341 attgaaatga ggtgatgata cctaattatg ttttcctaat taaagataaa ttgctacttg
     2401 attaaaaatc ctgcccttca cctttgggaa caaaggttaa gagacacagt tgggcgaact
     2461 ctcaaattta ttggcattta cacaaagtcc cagacaacca aggaactgaa gttttcatca
     2521 tatgagagca gcacatccca ccatttacaa tattcgtata tctttctgca aatatggctc
     2581 tggatagtga aaattgaaaa acatatgcca accctgagca agggaactcc tcaaaaaatc
     2641 atgcagcgga accttgtcag gtagagaagc cgtgcatgaa agaatttgtt taatgtcttg
     2701 ttttgcgtat gtgttttttg tttttgtttt ttaagaacta aatattgcac attaataaat
     2761 aagaattata cagca
//
