LOCUS       NM_001330348            4190 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens TBC1 domain family member 8 (TBC1D8), transcript
            variant 1, mRNA.
ACCESSION   NM_001330348 XM_005263863
VERSION     NM_001330348.2
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 4190)
  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 4190)
  AUTHORS   Chen,M., Sheng,X.J., Qin,Y.Y., Zhu,S., Wu,Q.X., Jia,L., Meng,N.,
            He,Y.T. and Yan,G.R.
  TITLE     TBC1D8 Amplification Drives Tumorigenesis through Metabolism
            Reprogramming in Ovarian Cancer
  JOURNAL   Theranostics 9 (3), 676-690 (2019)
   PUBMED   30809301
  REMARK    GeneRIF: TBC1D8 drives ovarian cancer tumorigenesis and metabolic
            reprogramming and serves as an independent prognosis factor for
            ovarian cancer patients
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4190)
  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   4  (bases 1 to 4190)
  AUTHORS   Sklan,E.H., Staschke,K., Oakes,T.M., Elazar,M., Winters,M.,
            Aroeti,B., Danieli,T. and Glenn,J.S.
  TITLE     A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and
            mediates viral replication
  JOURNAL   J Virol 81 (20), 11096-11105 (2007)
   PUBMED   17686842
  REMARK    GeneRIF: isolated a TBC Rab-GAP cellular binding partner
            interacting with the N terminus of HCV NS5A; depleting the
            expression of this partner severely impairs HCV RNA replication
            with no obvious effect on cell viability
REFERENCE   5  (bases 1 to 4190)
  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
REFERENCE   6  (bases 1 to 4190)
  AUTHORS   Xu,Y.C., Wu,R.F., Gu,Y., Yang,Y.S., Yang,M.C., Nwariaku,F.E. and
            Terada,L.S.
  TITLE     Involvement of TRAF4 in oxidative activation of c-Jun N-terminal
            kinase
  JOURNAL   J Biol Chem 277 (31), 28051-28057 (2002)
   PUBMED   12023963
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013722.8 and AC016738.6.
            
            On Apr 28, 2020 this sequence version replaced NM_001330348.1.
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.275506.1,
                                           SRR14038191.1477193.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409318.2/ ENSP00000386856.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-256               AC013722.8         62111-62366         c
            257-412             AC013722.8         1193-1348           c
            413-531             AC016738.6         151694-151812       c
            532-760             AC016738.6         146381-146609       c
            761-1001            AC016738.6         142674-142914       c
            1002-1209           AC016738.6         132451-132658       c
            1210-1404           AC016738.6         130734-130928       c
            1405-1581           AC016738.6         129805-129981       c
            1582-1732           AC016738.6         128291-128441       c
            1733-1947           AC016738.6         125817-126031       c
            1948-2065           AC016738.6         124541-124658       c
            2066-2351           AC016738.6         121764-122049       c
            2352-2481           AC016738.6         120576-120705       c
            2482-2580           AC016738.6         120321-120419       c
            2581-2649           AC016738.6         119656-119724       c
            2650-2890           AC016738.6         114554-114794       c
            2891-2956           AC016738.6         113954-114019       c
            2957-3046           AC016738.6         103724-103813       c
            3047-3144           AC016738.6         103202-103299       c
            3145-4190           AC016738.6         99501-100546        c
FEATURES             Location/Qualifiers
     source          1..4190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..4190
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /note="TBC1 domain family member 8"
                     /db_xref="GeneID:11138"
                     /db_xref="HGNC:HGNC:17791"
     exon            1..256
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             130..3597
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BUB2-like protein 1; TBC1 domain family, member 8A;
                     vascular Rab-GAP/TBC-containing protein; TBC1 domain
                     family, member 8 (with GRAM domain)"
                     /codon_start=1
                     /product="TBC1 domain family member 8 isoform 1"
                     /protein_id="NP_001317277.1"
                     /db_xref="CCDS:CCDS82486.1"
                     /db_xref="GeneID:11138"
                     /db_xref="HGNC:HGNC:17791"
                     /translation="MWLKPEEVLLKNALKLWVTQKSSCYFILQRRRGHGEGGGRLTGR
                     LVGALDAVLDSNARVAPFRILLQVPGSQVYSPIACGELLNGSDVYWAIATGATLEEIN
                     QHWDWLEQNLLHTLSVFDNKDDIASFVKGKVKALIAEETSSRLAEQEEEPEKFREALV
                     KFEARFNFPEAEKLVTYYSCCCWKGRVPRQGWLYLSINHLCFYSFFLGKELKLVVPWV
                     DIQKLERTSNVFLTDTIRITTQNKERDFSMFLNLDEVFKVMEQLADVTLRRLLDNEVF
                     DLDPDLQEPSQITKRDLEARAQNEFFRAFFRLPRKEKLHAVVDCSLWTPFSRCHTTGR
                     MFASDSYICFASREDGCCKIILPLREVVSIEKMEDTSLLPHPIIVSIRSKVAFQFIEL
                     RDRDSLVEALLARLKQVHANHPVHYDTSADDDMASLVFHSTSMCSDHRFGDLEMMSSQ
                     NSEESEKEKSPLMHPDALVTAFQQSGSQSPDSRMSREQIKISLWNDHFVEYGRTVCMF
                     RTEKIRKLVAMGIPESLRGRLWLLFSDAVTDLASHPGYYGNLVEESLGKCCLVTEEIE
                     RDLHRSLPEHPAFQNETGIAALRRVLTAYAHRNPKIGYCQSMNILTSVLLLYTKEEEA
                     FWLLVAVCERMLPDYFNHRVIGAQVDQSVFEELIKGHLPELAEHMNDLSALASVSLSW
                     FLTLFLSIMPLESAVNVVDCFFYDGIKAIFQLGLAVLEANAEDLCSSKDDGQALMILS
                     RFLDHIKNEDSPGPPVGSHHAFFSDDQEPYPVTDISDLIRDSYEKFGDQSVEQIEHLR
                     YKHRIRVLQGHEDTTKQNVLRVVIPEVSILPEDLEELYDLFKREHMMSCYWEQPRPMA
                     SRHDPSRPYAEQYRIDARQFAHLFQLVSPWTCGAHTEILAERTFRLLDDNMDQLIEFK
                     AFVSCLDIMYNGEMNEKIKLLYRLHIPPALTENDRDSQSPLRNPLLSTSRPLVFGKPN
                     GDAVDYQKQLKQMIKDLAKEKDKTEKELPKMSQREFIQFCKTLYSMFHEDPEENDLYQ
                     AIATVTTLLLQIGEVGQRGSSSGSCSQECGEELRASAPSPEDSVFADTGKTPQDSQAF
                     PEAAERDWTVSLEHILASLLTEQSLVNFFEKPLDMKSKLENAKINQYNLKTFEMSHQS
                     QSELKLSNL"
     exon            257..412
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            413..531
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            532..760
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            761..1001
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1209
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1404
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1581
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1582..1732
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1733..1947
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1948..2065
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            2066..2351
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            2352..2481
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            2482..2580
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            2581..2649
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            2650..2890
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            2891..2956
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            2957..3046
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            3047..3144
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     exon            3145..4190
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4172..4177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /note="hexamer: AAGAAA"
     polyA_site      4190
                     /gene="TBC1D8"
                     /gene_synonym="AD3; GRAMD8; HBLP1; TBC1D8A; VRP"
                     /note="major polyA site"
ORIGIN      
        1 agagcgctgg gcaccggccg ggctgtggtc cccgcgcgcc gccgtcgcct ctcgagcggg
       61 ctcggctcac agcgaccggc ggccggggag atgtgagctg gggccggcgg gcgcggccgg
      121 accgccgcga tgtggctcaa gcccgaggag gtgctgctga agaacgcgct gaagctctgg
      181 gtgacccaga agagcagctg ctacttcatc ctgcagcggc gccgcgggca cggcgagggg
      241 ggcggccgcc tcaccggtcg cctggtcggc gctctggatg cagtgttgga ttccaatgca
      301 cgggtcgctc catttcgaat tctgcttcaa gttcccggct cccaggttta ttctcccata
      361 gcatgtggtg agttactgaa tggatcagac gtttactggg ccatagccac tggtgcaaca
      421 ttagaggaaa tcaatcagca ctgggactgg ctggaacaaa atctcctcca caccttgtct
      481 gtctttgata ataaagatga cattgccagt tttgtcaaag ggaaggtaaa ggctctgata
      541 gccgaggaga ccagcagcag gctcgccgag caggaggagg aacccgagaa attccgagaa
      601 gccctggtga agttcgaggc caggttcaac ttccccgagg cggagaagct ggtcacctac
      661 tactcctgct gctgttggaa gggcagggtg ccccgccagg gctggctgta cctcagcatc
      721 aaccacctct gcttctactc cttcttcctg ggcaaggaac ttaaacttgt ggttccgtgg
      781 gttgatatcc agaaattaga aagaacgtcc aatgtctttc tgacggatac catccgaatc
      841 accacgcaga ataaggagcg tgacttctcc atgttcctga acctggatga ggtgtttaag
      901 gtcatggagc agctggccga cgtgacgctg cgaaggctgc tggataatga ggtctttgac
      961 ctcgaccccg atctgcagga gccgagccag atcaccaaga gggacctgga agccagagca
     1021 cagaatgagt tcttccgggc tttcttcagg ttgccgagga aggagaagct gcacgcggtt
     1081 gtggactgtt cgctctggac gccgttcagt cgctgtcaca ccacggggcg gatgttcgcc
     1141 tctgacagct acatctgctt tgccagcaga gaagatggct gctgtaagat catcctgcca
     1201 ctcagagagg tggtgagcat cgagaagatg gaggacacga gcctgctgcc gcatcccatc
     1261 attgtcagta tcagaagcaa ggtggccttc cagttcattg agctccggga ccgagacagc
     1321 ctggtggagg cgctgcttgc gaggttgaag caggtccacg ccaaccaccc cgtgcactac
     1381 gacacctctg cggatgatga catggcttca ctcgtgtttc attcaacaag catgtgcagt
     1441 gaccacagat ttggggatct tgaaatgatg tcttctcaaa atagcgagga gagtgagaaa
     1501 gagaagagcc cgctgatgca ccccgatgcc ctggtcaccg ccttccagca gtcaggcagc
     1561 cagagccctg actcccgaat gtccagagaa cagataaaaa taagcctgtg gaatgaccac
     1621 tttgtggaat acggcagaac cgtgtgtatg tttcgcacag agaagattcg gaagctcgta
     1681 gccatgggca tccctgaatc tttgcgaggg agactctggc ttctcttctc agatgcggtg
     1741 acggatcttg cctcacaccc tggttactac gggaatctgg tggaggagtc cctggggaaa
     1801 tgctgcctgg taaccgagga gatagaacga gacctgcacc gctccctgcc agagcacccc
     1861 gccttccaga acgaaacggg aattgctgct ttgaggagag tcttgacggc ctatgcccac
     1921 cggaacccca agattggata ctgccagtcc atgaacatcc tgacctccgt gctgctgctg
     1981 tacaccaagg aggaggaagc cttctggctg ttggttgctg tgtgtgagcg gatgctgccc
     2041 gattacttca accaccgagt gatcggggca caagttgacc agtctgtctt cgaggagctc
     2101 atcaagggtc atctcccaga gctggcagag cacatgaacg acctctcagc cctggcgtcc
     2161 gtctctctct cgtggttcct gaccctgttc ctcagcatca tgcctctaga gagtgcggtg
     2221 aatgtggtag actgcttctt ctatgatggc atcaaagcca tcttccagct gggactggct
     2281 gtgcttgagg ccaatgctga ggacctgtgc agcagcaagg atgatggcca ggccttgatg
     2341 atcctcagca ggtttctaga tcacattaag aatgaggaca gcccagggcc cccagttggc
     2401 agccaccatg cctttttctc cgacgaccag gagccctacc ctgtgactga tatttcggac
     2461 ctgatccggg attcctatga gaaatttgga gaccagtctg tggagcagat cgagcaccta
     2521 cgttacaagc acaggatcag ggtcctccaa ggccacgagg acaccacaaa gcagaacgtg
     2581 cttcgagtcg ttatcccgga agtctcaatt cttcctgaag acctagagga gctctacgac
     2641 ttattcaaga gagaacatat gatgagctgt tactgggagc agcccaggcc catggcctca
     2701 cgccacgacc ccagccggcc ctatgctgag cagtaccgca tagatgcccg gcagtttgca
     2761 cacctgtttc agctagtctc gccctggacc tgcggggccc acacggagat cctcgccgaa
     2821 aggacgttca ggctcttgga tgacaacatg gaccagctca tcgagttcaa agcgtttgtg
     2881 agctgcctcg atattatgta taatggagaa atgaatgaga agattaaact attatacagg
     2941 cttcatatcc ctccagcact cactgaaaat gaccgagaca gccagtcgcc gttgaggaat
     3001 cctctgttgt caacatcgag acccctggtt ttcgggaaac ccaatggtga tgcagttgat
     3061 tatcagaaac agctgaagca gatgattaag gatttagcca aagaaaaaga taaaactgag
     3121 aaagaattgc ccaaaatgag ccagagagaa tttatccagt tctgtaaaac tctgtacagt
     3181 atgttccatg aagatccaga agaaaatgat ttgtatcaag ccatcgccac agtcaccaca
     3241 ctgctgctgc agatcgggga ggtggggcag cgaggcagca gctctggaag ctgctcccag
     3301 gagtgtgggg aggagctgcg ggcttcagct ccttctcctg aggactcggt ttttgcagac
     3361 actgggaaga cgccccagga ctcccaggca tttccagagg cggcagaaag ggactggact
     3421 gtctcccttg aacatatttt agcttcactt ctgactgaac agtcattagt caactttttt
     3481 gaaaagccac tggacatgaa atccaaactt gaaaatgcca agatcaatca gtacaatctc
     3541 aaaacttttg aaatgagcca ccaatcacaa tctgaactta agctgagtaa cttgtagcaa
     3601 gacagcagct gctatgcaca ctggagtcca ccataccaaa gcacgaacca gactgtttct
     3661 tggggtcagc cctaaaccga gatttcagtc taccttacca atggggcatc tggctaaaca
     3721 acctgacaaa ctgtggccag gggaaccgac acaaccctca agcatttcta tgtattgaga
     3781 attgtcagtg ccctaaggta tccattggtt cccttgatgc caacttacaa tttttaccgg
     3841 atttgctgaa atgggcactt ctgctgtgat gctagtgttg attttgctct cagatgaaca
     3901 caatgtctca tactaaccaa gaagcaagaa aagccccatg ctttcatttt tcacttggag
     3961 tgacaatggg agaggtcagg aatcaagttc actttcaaga tctaagggag tccactatct
     4021 gtgcaattgt atttggcttt tttttgcact gtttcaatgc tggtaattga aaccatttta
     4081 atatatttgg ttgtattcac tttatatgtc cttccaaaaa tgttgttgtg tacaaaccat
     4141 gctttcaatg ttggcttcca agttttttaa taagaaactt tttgtattta
//
