LOCUS       NM_016495               1282 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens TBC1 domain family member 7 (TBC1D7), transcript
            variant 1, mRNA.
ACCESSION   NM_016495
VERSION     NM_016495.6
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 1282)
  AUTHORS   Wei,S., Dai,M., Zhang,C., Teng,K., Wang,F., Li,H., Sun,W., Feng,Z.,
            Kang,T., Guan,X., Xu,R., Cai,M. and Xie,D.
  TITLE     KIF2C: a novel link between Wnt/beta-catenin and mTORC1 signaling
            in the pathogenesis of hepatocellular carcinoma
  JOURNAL   Protein Cell 12 (10), 788-809 (2021)
   PUBMED   32748349
  REMARK    GeneRIF: KIF2C: a novel link between Wnt/beta-catenin and mTORC1
            signaling in the pathogenesis of hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 1282)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1282)
  AUTHORS   Yang,H., Yu,Z., Chen,X., Li,J., Li,N., Cheng,J., Gao,N., Yuan,H.X.,
            Ye,D., Guan,K.L. and Xu,Y.
  TITLE     Structural insights into TSC complex assembly and GAP activity on
            Rheb
  JOURNAL   Nat Commun 12 (1), 339 (2021)
   PUBMED   33436626
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1282)
  AUTHORS   Qi,T.F., Guo,L., Huang,M., Li,L., Miao,W. and Wang,Y.
  TITLE     Discovery of TBC1D7 as a Potential Driver for Melanoma Cell
            Invasion
  JOURNAL   Proteomics 20 (14), e1900347 (2020)
   PUBMED   32510182
  REMARK    GeneRIF: Discovery of TBC1D7 as a Potential Driver for Melanoma
            Cell Invasion.
REFERENCE   5  (bases 1 to 1282)
  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   6  (bases 1 to 1282)
  AUTHORS   Popovic,D., Akutsu,M., Novak,I., Harper,J.W., Behrends,C. and
            Dikic,I.
  TITLE     Rab GTPase-activating proteins in autophagy: regulation of
            endocytic and autophagy pathways by direct binding to human ATG8
            modifiers
  JOURNAL   Mol Cell Biol 32 (9), 1733-1744 (2012)
   PUBMED   22354992
REFERENCE   7  (bases 1 to 1282)
  AUTHORS   Sato,N., Koinuma,J., Ito,T., Tsuchiya,E., Kondo,S., Nakamura,Y. and
            Daigo,Y.
  TITLE     Activation of an oncogenic TBC1D7 (TBC1 domain family, member 7)
            protein in pulmonary carcinogenesis
  JOURNAL   Genes Chromosomes Cancer 49 (4), 353-367 (2010)
   PUBMED   20095038
  REMARK    GeneRIF: Immunohistochemistry of NSCLC tumor tissue suggested an
            association of TBC1D7 expression with poor prognosis for NSCLC
            patients; Treatment of lung cancer cells using siRNA against
            TBC1D7, suppressed its expression and inhibited cell growth.
REFERENCE   8  (bases 1 to 1282)
  AUTHORS   Ishibashi,K., Kanno,E., Itoh,T. and Fukuda,M.
  TITLE     Identification and characterization of a novel Tre-2/Bub2/Cdc16
            (TBC) protein that possesses Rab3A-GAP activity
  JOURNAL   Genes Cells 14 (1), 41-52 (2009)
   PUBMED   19077034
REFERENCE   9  (bases 1 to 1282)
  AUTHORS   Nakashima,A., Yoshino,K., Miyamoto,T., Eguchi,S., Oshiro,N.,
            Kikkawa,U. and Yonezawa,K.
  TITLE     Identification of TBC7 having TBC domain as a novel binding protein
            to TSC1-TSC2 complex
  JOURNAL   Biochem Biophys Res Commun 361 (1), 218-223 (2007)
   PUBMED   17658474
REFERENCE   10 (bases 1 to 1282)
  AUTHORS   Yoshimura,S., Egerer,J., Fuchs,E., Haas,A.K. and Barr,F.A.
  TITLE     Functional dissection of Rab GTPases involved in primary cilium
            formation
  JOURNAL   J Cell Biol 178 (3), 363-369 (2007)
   PUBMED   17646400
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB079098.1, AF151073.1 and
            BC050465.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016495.5.
            
            Summary: This gene encodes a member of the TBC-domain containing
            protein family. The encoded protein functions as a subunit of the
            tuberous sclerosis TSC1-TSC2 complex which plays a role in the
            regulation of cellular growth and differentiation. Mutations in
            this gene have been associated with autosomal recessive
            megalencephaly. Alternative splicing results in multiple transcript
            variants. Naturally occurring readthrough transcription occurs
            between this locus and downstream LOC100130357. [provided by
            RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1, 2, 3, and 6 encode the same isoform (a).
            
            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 :: SRR1163658.262009.1,
                                           SRR1163658.171857.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379300.8/ ENSP00000368602.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                DB079098.1         49-83
            36-202              DB079098.1         96-262
            203-1277            AF151073.1         46-1120
            1278-1282           BC050465.1         1025-1029
FEATURES             Location/Qualifiers
     source          1..1282
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.1"
     gene            1..1282
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /note="TBC1 domain family member 7"
                     /db_xref="GeneID:51256"
                     /db_xref="HGNC:HGNC:21066"
                     /db_xref="MIM:612655"
     exon            1..242
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /inference="alignment:Splign:2.1.0"
     exon            243..362
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /inference="alignment:Splign:2.1.0"
     CDS             251..1132
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /note="isoform a is encoded by transcript variant 1; cell
                     migration-inducing protein 23; TS complex subunit 3;
                     Tre2-Bub2-Cdc16 Domain Family Member 7; TBC domain family
                     7"
                     /codon_start=1
                     /product="TBC1 domain family member 7 isoform a"
                     /protein_id="NP_057579.1"
                     /db_xref="GeneID:51256"
                     /db_xref="HGNC:HGNC:21066"
                     /db_xref="MIM:612655"
                     /translation="MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCT
                     FSQRFPLPSMYRALVWKVLLGILPPHHESHAKVMMYRKEQYLDVLHALKVVRFVSDAT
                     PQAEVYLRMYQLESGKLPRSPSFPLEPDDEVFLAIAKAMEEMVEDSVDCYWITRRFVN
                     QLNTKYRDSLPQLPKAFEQYLNLEDGRLLTHLRMCSAAPKLPYDLWFKRCFAGCLPES
                     SLQRVWDKVVSGSCKILVFVAVEILLTFKIKVMALNSAEKITKFLENIPQDSSDAIVS
                     KAIDLWHKHCGTPVHSS"
     exon            363..443
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /inference="alignment:Splign:2.1.0"
     exon            444..631
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /inference="alignment:Splign:2.1.0"
     exon            632..769
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /inference="alignment:Splign:2.1.0"
     exon            770..915
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1045
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1282
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1262..1267
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /note="hexamer: AATAAA"
     polyA_site      1282
                     /gene="TBC1D7"
                     /gene_synonym="MGCPH; PIG51; TBC7"
                     /note="major polyA site"
ORIGIN      
        1 cgtccggcgg cggcggcagc ggcagcggca gcggcgctga gttttgtctc ccgggccgtc
       61 tgggcgcgcg cgggtgtccc aggtaccccg ccgcctccct ccttcccgca ggactcgtcc
      121 ctcctggccc tgggccccaa cggtgcccgc ctgcccggcg gtcggtcagc gcacagggca
      181 cggcttcctc tgcttctccc ggaccactta gtctcaaccc gggtgtgttt gcactactag
      241 agaatgaaat atgactgagg actctcagag aaactttcgt tcagtatatt atgagaaagt
      301 ggggtttcgt ggagttgaag aaaagaaatc attagaaatt ctcctaaaag atgaccgtct
      361 ggatactgag aaactttgta cttttagtca gaggttccct ctcccgtcca tgtaccgtgc
      421 attggtatgg aaggtgcttc taggaatctt gcctccacac cacgagtccc atgccaaggt
      481 gatgatgtat cgtaaggagc agtacttgga tgtccttcat gccctgaaag tcgttcgctt
      541 tgttagtgat gccacacctc aggctgaagt ctatctccgc atgtatcagc tggagtctgg
      601 gaagttacct cgaagtccct cttttccact ggagccagat gatgaagtgt ttcttgccat
      661 agctaaagcc atggaggaaa tggtggaaga tagtgtcgac tgttactgga tcacccgacg
      721 ctttgtgaac caattaaata ccaagtaccg ggattccttg ccccagttgc caaaagcgtt
      781 tgaacaatac ttgaatctgg aagatggcag actgctgact catctgagga tgtgttccgc
      841 ggcgcccaaa cttccttatg atctctggtt caagaggtgc tttgcgggat gtttgcctga
      901 atccagttta cagagggttt gggataaagt tgtgagtgga tcctgtaaga tcctagtttt
      961 tgtagctgtc gaaattttat taacctttaa aataaaagtt atggcactga acagtgcaga
     1021 gaagataaca aagtttctgg aaaatattcc ccaggacagc tcagacgcga tcgtgagcaa
     1081 ggccattgac ttgtggcaca aacactgtgg gaccccggtc cattcaagct gaacgcaccc
     1141 gctggttgtg gaccgtctgc caggcaccac agtgagcatt gtgttcttgg catgtgatct
     1201 gggaaactga ttgaataata cacttttctt gctttggtgc tcaaagtggt ttttttcccc
     1261 caataaaatt atttaattga aa
//
