LOCUS       NM_017849               6271 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens transmembrane protein 127 (TMEM127), transcript
            variant 1, mRNA.
ACCESSION   NM_017849
VERSION     NM_017849.4
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 6271)
  AUTHORS   Guo,Q., Cheng,Z.M., Gonzalez-Cantu,H., Rotondi,M.,
            Huelgas-Morales,G., Ethiraj,P., Qiu,Z., Lefkowitz,J., Song,W.,
            Landry,B.N., Lopez,H., Estrada-Zuniga,C.M., Goyal,S., Khan,M.A.,
            Walker,T.J., Wang,E., Li,F., Ding,Y., Mulligan,L.M., Aguiar,R.C.T.
            and Dahia,P.L.M.
  TITLE     TMEM127 suppresses tumor development by promoting RET
            ubiquitination, positioning, and degradation
  JOURNAL   Cell Rep 42 (9), 113070 (2023)
   PUBMED   37659079
  REMARK    GeneRIF: TMEM127 suppresses tumor development by promoting RET
            ubiquitination, positioning, and degradation.
REFERENCE   2  (bases 1 to 6271)
  AUTHORS   Armaiz-Pena,G., Flores,S.K., Cheng,Z.M., Zhang,X., Esquivel,E.,
            Poullard,N., Vaidyanathan,A., Liu,Q., Michalek,J.,
            Santillan-Gomez,A.A., Liss,M., Ahmadi,S., Katselnik,D.,
            Maldonado,E., Salgado,S.A., Jimenez,C., Fishbein,L., Hamidi,O.,
            Else,T., Lechan,R., Tischler,A.S., Benn,D.E., Dwight,T.,
            Clifton-Bligh,R., Sanso,G., Barontini,M., Vincent,D., Aronin,N.,
            Biondi,B., Koops,M., Bowhay-Carnes,E., Gimenez-Roqueplo,A.P.,
            Alvarez-Eslava,A., Bruder,J.M., Kitano,M., Burnichon,N., Ding,Y.
            and Dahia,P.L.M.
  TITLE     Genotype-Phenotype Features of Germline Variants of the TMEM127
            Pheochromocytoma Susceptibility Gene: A 10-Year Update
  JOURNAL   J Clin Endocrinol Metab 106 (1), e350-e364 (2021)
   PUBMED   33051659
  REMARK    GeneRIF: Genotype-Phenotype Features of Germline Variants of the
            TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.
REFERENCE   3  (bases 1 to 6271)
  AUTHORS   Flores,S.K., Deng,Y., Cheng,Z., Zhang,X., Tao,S., Saliba,A.,
            Chu,I., Burnichon,N., Gimenez-Roqueplo,A.P., Wang,E., Aguiar,R.C.T.
            and Dahia,P.L.M.
  TITLE     Functional Characterization of TMEM127 Variants Reveals Novel
            Insights into Its Membrane Topology and Trafficking
  JOURNAL   J Clin Endocrinol Metab 105 (9), e3142-e3156 (2020)
   PUBMED   32575117
  REMARK    GeneRIF: Functional Characterization of TMEM127 Variants Reveals
            Novel Insights into Its Membrane Topology and Trafficking.
REFERENCE   4  (bases 1 to 6271)
  AUTHORS   Alix,E., Godlee,C., Cerny,O., Blundell,S., Tocci,R., Matthews,S.,
            Liu,M., Pruneda,J.N., Swatek,K.N., Komander,D., Sleap,T. and
            Holden,D.W.
  TITLE     The Tumour Suppressor TMEM127 Is a Nedd4-Family E3 Ligase Adaptor
            Required by Salmonella SteD to Ubiquitinate and Degrade MHC Class
            II Molecules
  JOURNAL   Cell Host Microbe 28 (1), 54-68 (2020)
   PUBMED   32526160
  REMARK    GeneRIF: The Tumour Suppressor TMEM127 Is a Nedd4-Family E3 Ligase
            Adaptor Required by Salmonella SteD to Ubiquitinate and Degrade MHC
            Class II Molecules.
REFERENCE   5  (bases 1 to 6271)
  AUTHORS   Deng,Y., Qin,Y., Srikantan,S., Luo,A., Cheng,Z.M., Flores,S.K.,
            Vogel,K.S., Wang,E. and Dahia,P.L.M.
  TITLE     The TMEM127 human tumor suppressor is a component of the mTORC1
            lysosomal nutrient-sensing complex
  JOURNAL   Hum Mol Genet 27 (10), 1794-1808 (2018)
   PUBMED   29547888
  REMARK    GeneRIF: We found that under nutrient-rich conditions TMEM127
            expression reduces mTORC1 recruitment to Rags. In addition, TMEM127
            interacts with LAMTOR in an amino acid-dependent manner and
            decreases the LAMTOR1-vATPase association, while TMEM127-vATPase
            binding requires intact lysosomal acidification but is amino acid
            independent
REFERENCE   6  (bases 1 to 6271)
  AUTHORS   Burnichon,N., Lepoutre-Lussey,C., Laffaire,J., Gadessaud,N.,
            Molinie,V., Hernigou,A., Plouin,P.F., Jeunemaitre,X., Favier,J. and
            Gimenez-Roqueplo,A.P.
  TITLE     A novel TMEM127 mutation in a patient with familial bilateral
            pheochromocytoma
  JOURNAL   Eur J Endocrinol 164 (1), 141-145 (2011)
   PUBMED   20923864
  REMARK    GeneRIF: Pathological and genomic data demonstrated that a TMEM127
            gene mutation not previously described was causative of a new case
            of familial bilateral pheochromocytoma.
REFERENCE   7  (bases 1 to 6271)
  AUTHORS   Qin,Y., Yao,L., King,E.E., Buddavarapu,K., Lenci,R.E.,
            Chocron,E.S., Lechleiter,J.D., Sass,M., Aronin,N., Schiavi,F.,
            Boaretto,F., Opocher,G., Toledo,R.A., Toledo,S.P., Stiles,C.,
            Aguiar,R.C. and Dahia,P.L.
  TITLE     Germline mutations in TMEM127 confer susceptibility to
            pheochromocytoma
  JOURNAL   Nat Genet 42 (3), 229-233 (2010)
   PUBMED   20154675
  REMARK    GeneRIF: Germline mutations in TMEM127 confer susceptibility to
            pheochromocytoma and identify TMEM127 as a tumor suppressor gene.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 6271)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   9  (bases 1 to 6271)
  AUTHORS   Loftus,B.J., Kim,U.J., Sneddon,V.P., Kalush,F., Brandon,R.,
            Fuhrmann,J., Mason,T., Crosby,M.L., Barnstead,M., Cronin,L.,
            Deslattes Mays,A., Cao,Y., Xu,R.X., Kang,H.L., Mitchell,S.,
            Eichler,E.E., Harris,P.C., Venter,J.C. and Adams,M.D.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
REFERENCE   10 (bases 1 to 6271)
  AUTHORS   Else,T., Greenberg,S. and Fishbein,L.
  TITLE     Hereditary Paraganglioma-Pheochromocytoma Syndromes
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301715
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA212468.1, BC039892.1 and
            AC012307.8.
            
            On Nov 21, 2019 this sequence version replaced NM_017849.3.
            
            Summary: This gene encodes a transmembrane protein with four
            predicted transmembrane domains. The protein is associated with a
            subpopulation of vesicular organelles corresponding to early
            endosomal structures, with the Golgi, and with lysosomes, and may
            participate in protein trafficking between these structures.
            Mutations in this gene and several other genes cause
            pheochromocytomas. Alternatively spliced transcript variants
            encoding the same protein have been identified. [provided by
            RefSeq, Aug 2022].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2146977.1, AK000514.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258439.8/ ENSP00000258439.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                DA212468.1         17-47
            32-1756             BC039892.1         1-1725
            1757-6271           AC012307.8         126852-131366       c
FEATURES             Location/Qualifiers
     source          1..6271
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..6271
                     /gene="TMEM127"
                     /note="transmembrane protein 127"
                     /db_xref="GeneID:55654"
                     /db_xref="HGNC:HGNC:26038"
                     /db_xref="MIM:613403"
     exon            1..129
                     /gene="TMEM127"
                     /inference="alignment:Splign:2.1.0"
     exon            130..504
                     /gene="TMEM127"
                     /inference="alignment:Splign:2.1.0"
     CDS             261..977
                     /gene="TMEM127"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="transmembrane protein 127 isoform 1"
                     /protein_id="NP_060319.1"
                     /db_xref="CCDS:CCDS2018.1"
                     /db_xref="GeneID:55654"
                     /db_xref="HGNC:HGNC:26038"
                     /db_xref="MIM:613403"
                     /translation="MYAPGGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITAL
                     CTALAEPAWLHIHGGTCSRQELGVSDVLGYVHPDLLKDFCMNPQTVLLLRVIAAFCFL
                     GILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQ
                     HKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALELLSEMEENE
                     PYPAEYEVINQFQPPPAYTP"
     exon            505..669
                     /gene="TMEM127"
                     /inference="alignment:Splign:2.1.0"
     exon            670..6271
                     /gene="TMEM127"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4192..4197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM127"
                     /note="hexamer: AATACA"
     polyA_site      4211
                     /gene="TMEM127"
                     /note="major polyA site"
     regulatory      6248..6253
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM127"
                     /note="hexamer: AATAAA"
     polyA_site      6271
                     /gene="TMEM127"
ORIGIN      
        1 ggaagtgcat cggccccggg tctgtccggg cgttgcggga ttggggcctg ggaacgctcg
       61 gcccccggca gccgagaagc ccgtgactgg gctgagcagc accatcccag ccctggggcc
      121 tgctgactgc ccagtcccgg cttcacctgc agcgaacccg gagcgttgct atcctccacc
      181 ggactgtcag gctctgcgcg ccccgcggag gtcggcggcg accagcagcg actgcggagc
      241 gacggcgggc ggccccgggc atgtacgccc ccggaggcgc agggctgccc ggcgggcgcc
      301 ggcggaggag cccgggaggc agcgctctgc ccaagcagcc ggagcgtagc ctggcctcgg
      361 ccctgcctgg cgccctgtct atcacggcgc tgtgcactgc cctcgccgag cccgcctggt
      421 tgcacatcca cggaggcacc tgttcgcgcc aggagctggg ggtctccgac gtgttgggct
      481 atgtgcaccc ggacctgctg aaagatttct gcatgaatcc ccagacagtg ctgctcctgc
      541 gggtcatcgc cgccttctgt ttcctgggca tcctgtgtag tctctccgct ttccttctgg
      601 atgtctttgg gccgaagcat cctgctctga agatcactcg tcgctatgcc ttcgcccata
      661 tcctaacggt tctgcagtgt gccaccgtca ttggcttttc ttattgggct tctgaactca
      721 tcttggccca gcagcagcag cataagaagt accatggatc ccaggtctat gtcaccttcg
      781 ccgttagctt ctacctggtg gcaggagctg gtggagcctc aatcctggcc acggcagcca
      841 acctcctgcg ccactacccc acagaggaag aggagcaggc gctggagctg ctctcagaga
      901 tggaagagaa cgagccctac ccggcggaat atgaggtcat caaccagttc cagccacccc
      961 ctgcttacac accctaatgc cagccctggg ctctcttcct cggcagcccc tccctcaact
     1021 ctgcagctcc tctcgcaccc agaggagctc ctttccccag caggcctcac tggtaggatc
     1081 ctgaccatct tctccaaacc ttccccagga gagactctgc ctttagggtc atccaagtat
     1141 ccctgctctc agaaccggag gtccactggt tttctataat gtactctttc cctcctgcca
     1201 catcctgccc ccttcacatt cacgagtcat taccagccag ggaaggtcat ccaagtttcc
     1261 tccagcatgg gcgatatctt tgggaccgag actttccttg gagagctgct gagagcggac
     1321 agtcccaaaa acaagtgtca aagggcccaa gggaaagggg actgtgccct ggaggctcac
     1381 ttcacaggga tcagtgtttg ctccacagct gtagctctgg gctgacgccc cccagacccc
     1441 ttccttctcg gagtgacccg cccccaggcc acctgctccg gggagttctg tgcactttac
     1501 tctttggact tctcctcacg tgtgccctgg ttttatgggg agagggaatc gctgttggga
     1561 aggcagagca gttgcaaccc tctctgccct tgcttcatgt ggctggagcc caggcaagga
     1621 gagcaggagc cagcgtgaga ctgaggcccc ctggtgccta tcaaggacca gagtgaaggg
     1681 gactacatct cccagccctt caccttttaa atatgagtgg ttttaaaagg aaaaaaatga
     1741 aaccaggcaa cagcaacaat attctgtttt taaaataggg acaagactgt tgtcactttt
     1801 tagacatgta tcccattcct tttggctctg caatatttgg ggctgtagct ccttccaagc
     1861 ccatggtagt ccctccccga gtctctccca gtagaatgca gcctcccttc cctggcccct
     1921 tccctctcag tgacggtgac tccctggggc cttctcgtgg aacccagagg ggctgaggac
     1981 tgtggcctgg ctggcgggcc agcgtggtgc tcctcaggac tgcagcactg agatggaacc
     2041 tggcctcagt ttaggaacag gggccacaac agggcaggaa cccaccaccc tccacatagg
     2101 aatacaacca gtggggccac atcatgtgag gcatcagacc cacactgtca gcccagcagg
     2161 ccgggctgtg tccttcagac ccagtgctgc cctagactct gactcgggac tccagcttgc
     2221 cacgtgccct ctcccctctt gaatgtactc tggtcttgca gtgtgctgct gggactttct
     2281 tgctcagcca tcactctggt caccttgttt gctctgggtc tggctgaatt ttctgccctg
     2341 agatctgggc ataaagtgga tgaaacttga aagaccttca gtgtagatcc agatggccaa
     2401 cctgtccttg ttaagttact tgcttcttgg gaatcagtgt cccctgctga gctgaaaagg
     2461 aaatggattc caatctcttc caacctttaa ggtgatagat agtttgagca agactggaga
     2521 atggacaaca ctatgaagct gtggctagaa agggactgtc atgtcccatc ctttggccag
     2581 attgactggg gatgtccgga cagatgcctg catgggtggt gagggccaca tctgcacacg
     2641 agccagtggc tgcttgcagt tcactgctgt gatgccagag tgtgttcaaa ggtgactctc
     2701 ctgctcttct ggactcttct ctcaggcaag aaaggctgca ggctgcctgc tatgtgatgc
     2761 ctgagcacaa agccaaggaa ctgaactaag tctttctgtt aagtcctgag tttgtcattg
     2821 gcaggtttac ttgtggccag ctctctctgc ccttgggtgt ctgagcaggc agaccagaag
     2881 accaggcact ggacctgcat gccaaaggga ctggtcatct cctgaggacc tgtaaatgac
     2941 cctgtggact gttccgcacg atccggaacc cactttttat tcactcccca tgtctttggc
     3001 cttcctcttc tttctctttc cctctgccat cctgacactg atagtttgtc atataaattc
     3061 cccgggttgt gttttttttt ctagaaaaaa attaaaaggg aaaacaaaac caaaaaaacc
     3121 agaaaccacg aataagaatg gaaatgacaa tggctgcctg tcatttttct gtcacgattt
     3181 tcctgatttg gtttgttccc tttgtctcag agaagcagga gatgttgatg aggctgtatt
     3241 tttttttctt tttcttgttt ttgagacaag agtctcgctc tgtcacccgg gctggagtgt
     3301 aacgtggcat gatctcagct cactgcaacc tctgcctcct gggttcaagc gattatcctg
     3361 cctcagcctc ctgagtagct gggattacag gcatgcgcca ctatgcccag ataatttttt
     3421 tgtattttta gtagagacag ggtttcacca tgttggccag gctggtctgg aactcctaac
     3481 ctcaggttat ccacccacct tggcctccca aagtgctggg attataggca tgaaccaccg
     3541 tgcctggcca aagatgtaat ttaaaatagt tagaagggac ttggcatggg ccagctccgt
     3601 gcatggcatt ttcaccccca gagcttccta atcctgtttt cacacaggaa gtttctaggt
     3661 ctttctagaa cagctagaaa tagtagctga ctcccgccca aggcccaacc ttcaaaccct
     3721 gagctcttca ggctgcatcc tctggtgagc tatagaggag aacgtggctc ctaaactcta
     3781 gccatcctgt gggaggaaat agacttcttt gggctgtggc ttgcagaaca aactacactt
     3841 tttttccctc tattgtttaa attttattta ataatttgtg tgtttttctg tctttatttt
     3901 ctgtatttca cgtgttcctt cactccctag aaactgcact ttctttgaaa ccataggtaa
     3961 tgaatcttac taggagaggc atggggatag agacagttct gggagtgtga cctgtaagcc
     4021 tcctgtaggg cagtgccagg ccttgattgc ccacgttctc tccgttcctt cttccttcat
     4081 acatttgatc acacagccta cacccagccc cgagtgtgca tcacggtaaa agagctgagg
     4141 gctctcttca gggagcagcc catttaggtc tcttttgttg ttgttaggga gaatacacat
     4201 ctttcttgga agctgggagt gtgttctcat ttcatgtcca ttcagacaaa gcaccattag
     4261 gcaccatgaa atatacagtg acggacagga ccctgtctgc aaggatttta tgtccttagt
     4321 tcaggagatg gacttgtcca cagaaaggca gagtgaagtg ggcggccggc tcggaaaagt
     4381 cctgtgccca gaagggagcc agttctgacc tgagtgataa tgaaaggctt cctggaggac
     4441 gcagcttgag ccacacttga tgtgggagtg aactgggata gggacactcc tgctgagaga
     4501 atggcaagag caaaagcaca ctggtggcca ggaggtggta agagccgagg ttagaaaggt
     4561 gaggggtgct catttaaggc actaacagca gaaggagccc aggaaggatt ttcagaaggg
     4621 aagggaggga tgcaacctta ttttaatgac tggtgacagt aggaagggtt ctgcctggcc
     4681 ttaagtgagg gtgttgaaag tgggagacag gacctgccaa aggggaagag ggcggtcaca
     4741 gtcaatccca gggcccagtg tctcagccag gtgctggagt tgggaatgcg ggagccccag
     4801 tctctgccca cctgtcacgt ggcagctgga aggtggcatc aactgcacag gcgaagaggg
     4861 gcccgcacac gagaagccat gggatgtgaa gggccgcaag gagaggaccc tgggacacag
     4921 gaagaggtgg tgcatctggg gcagggcggc tttcccaaga tgactagaga atcttcagct
     4981 ggcatcttgc ctgaaatatc cacgctctca gccactacac taatggaaca cagatgctat
     5041 ggggagacag aagggaactg acaaacttca tgcccctgtt ttcaaatagc ctgcaatctt
     5101 acctcttcct ctgcattttt tggggggagt gacattttaa tgggaggcag gaggtttgtg
     5161 gagaagagaa aatgtttttt ttgtgggggt gggtagagac agtctcacca tgttgcccag
     5221 gctggtctca aactactggc ttcaggcaat ccttctgcct cccttcccaa agggttggga
     5281 ttacaggctt gagccactgc accaagcctg aaaatgtcgt tttgaatgag cccacctgaa
     5341 acgaagacgc ttcattaggg ttactggttt gagaattaag atcagttctg gccgggtgcg
     5401 gtggctcacg cctattatcc cagcactttg ggaggccgag gtgggtggat cacaaggtca
     5461 ggagatcgag accattctgg ccaacatggt gaaaccccgt ctctactaaa aatacaaaaa
     5521 ttaaccaggc atggtggcag gtgcctgtag tcccagctac tcgggaggct gaggcaggag
     5581 aatcacttga acccgggagg cagaggttgc agtgagccga gatcatgcca ctggactcca
     5641 gcctgacaga gtgagactcc atctcaaaca cacacacaca cacacacaca caccacacac
     5701 acacacacag gttcctcacc ataagctttg gggaaaattc ttggcttttt tgctggggga
     5761 gagagcagtg cccagggaag attggctgat ctcagagctg gagggtttat gcgggactgg
     5821 ccagcccctt cagctgagtg ggacagcaac acagtgggtg gtaaggggct tcataagatg
     5881 tacaagatga gggagaggcc cctccagcca accctgtgtc taaagagtca ggtaacgaag
     5941 aactttccag agacagctgt gagtccgtct ggcttaaggg gttgtacagg tgtctgagaa
     6001 tggggcctga aggtgcaggg cctgcaggct gccctgtttg gaaggttcct gtccttctgt
     6061 cttggtagaa aatggcagct agccttgtaa agggcctcct tgtgtagcga gatagaccat
     6121 gtagccccag atgcccccat ggcttcactt ccctcttggg ggtctctcag tatatgtcta
     6181 gtgccaccac tattggtgga gagtttcctt ctggaataac cttggggtgg tggatgggtt
     6241 ttattttaat aaaagaagaa tgtctcattc a
//
