LOCUS       NM_001267571            3265 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens TBC1 domain family member 2 (TBC1D2), transcript
            variant 1, mRNA.
ACCESSION   NM_001267571
VERSION     NM_001267571.2
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 3265)
  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 3265)
  AUTHORS   Carroll,B., Mohd-Naim,N., Maximiano,F., Frasa,M.A., McCormack,J.,
            Finelli,M., Thoresen,S.B., Perdios,L., Daigaku,R., Francis,R.E.,
            Futter,C., Dikic,I. and Braga,V.M.
  TITLE     The TBC/RabGAP Armus coordinates Rac1 and Rab7 functions during
            autophagy
  JOURNAL   Dev Cell 25 (1), 15-28 (2013)
   PUBMED   23562278
  REMARK    GeneRIF: Armus expression induces autophagosome accumulation in
            keratinocytes.
REFERENCE   3  (bases 1 to 3265)
  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   4  (bases 1 to 3265)
  AUTHORS   Serva,A., Knapp,B., Tsai,Y.T., Claas,C., Lisauskas,T., Matula,P.,
            Harder,N., Kaderali,L., Rohr,K., Erfle,H., Eils,R., Braga,V. and
            Starkuviene,V.
  TITLE     miR-17-5p regulates endocytic trafficking through targeting
            TBC1D2/Armus
  JOURNAL   PLoS One 7 (12), e52555 (2012)
   PUBMED   23285084
  REMARK    GeneRIF: TBC1D2/Armus, a GAP of Rab7 GTPase, is reported as a novel
            target of miR-17.
REFERENCE   5  (bases 1 to 3265)
  AUTHORS   Cavanillas,M.L., Fernandez,O., Comabella,M., Alcina,A., Fedetz,M.,
            Izquierdo,G., Lucas,M., Cenit,M.C., Arroyo,R., Vandenbroeck,K.,
            Alloza,I., Garcia-Barcina,M., Antiguedad,A., Leyva,L., Gomez,C.L.,
            Olascoaga,J., Otaegui,D., Blanco,Y., Saiz,A., Montalban,X.,
            Matesanz,F. and Urcelay,E.
  TITLE     Replication of top markers of a genome-wide association study in
            multiple sclerosis in Spain
  JOURNAL   Genes Immun 12 (2), 110-115 (2011)
   PUBMED   20944657
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3265)
  AUTHORS   Frasa,M.A., Maximiano,F.C., Smolarczyk,K., Francis,R.E.,
            Betson,M.E., Lozano,E., Goldenring,J., Seabra,M.C., Rak,A.,
            Ahmadian,M.R. and Braga,V.M.
  TITLE     Armus is a Rac1 effector that inactivates Rab7 and regulates
            E-cadherin degradation
  JOURNAL   Curr Biol 20 (3), 198-208 (2010)
   PUBMED   20116244
  REMARK    GeneRIF: integration of Rac1 and Rab7 activities by Armus provides
            an important regulatory node for E-cadherin turnover and stability
            of cell-cell contacts
REFERENCE   7  (bases 1 to 3265)
  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   8  (bases 1 to 3265)
  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   9  (bases 1 to 3265)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (bases 1 to 3265)
  AUTHORS   Zhou,Y., Toth,M., Hamman,M.S., Monahan,S.J., Lodge,P.A.,
            Boynton,A.L. and Salgaller,M.L.
  TITLE     Serological cloning of PARIS-1: a new TBC domain-containing,
            immunogenic tumor antigen from a prostate cancer cell line
  JOURNAL   Biochem Biophys Res Commun 290 (2), 830-838 (2002)
   PUBMED   11785977
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB167423.1, AB449882.1, AY026527.1 and BX091503.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001267571.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: SRR1660805.53565.1,
                                           SRR1803612.83401.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000465784.7/ ENSP00000481721.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-108               DB167423.1         89-196
            109-1859            AB449882.1         1-1751
            1860-1860           AY026527.1         1844-1844
            1861-2895           AB449882.1         1753-2787
            2896-2910           BX091503.1         384-398             c
            2911-3265           BX091503.1         27-381              c
FEATURES             Location/Qualifiers
     source          1..3265
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     gene            1..3265
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /note="TBC1 domain family member 2"
                     /db_xref="GeneID:55357"
                     /db_xref="HGNC:HGNC:18026"
                     /db_xref="MIM:609871"
     exon            1..477
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..2895
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /note="isoform 1 is encoded by transcript variant 1; TBC1
                     domain family, member 2A; prostate antigen recognized and
                     identified by SEREX 1; armus"
                     /codon_start=1
                     /product="TBC1 domain family member 2A isoform 1"
                     /protein_id="NP_001254500.1"
                     /db_xref="CCDS:CCDS75865.1"
                     /db_xref="GeneID:55357"
                     /db_xref="HGNC:HGNC:18026"
                     /db_xref="MIM:609871"
                     /translation="MEGAGENAPESSSSAPGSEESARDPQVPPPEEESGDCARSLEAV
                     PKKLCGYLSKFGGKGPIRGWKSRWFFYDERKCQLYYSRTAQDANPLDSIDLSSAVFDC
                     KADAEEGIFEIKTPSRVITLKAATKQAMLYWLQQLQMKRWEFHNSPPAPPATPDAALA
                     GNGPVLHLELGQEEAELEEFLCPVKTPPGLVGVAAALQPFPALQNISLKHLGTEIQNT
                     MHNIRGNKQAQGTGHEPPGEDSPQSGEPQREEQPLASDASTPGREPEDSPKPAPKPSL
                     TISFAQKAKRQNNTFPFFSEGITRNRTAQEKVAALEQQVLMLTKELKSQKELVKILHK
                     ALEAAQQEKRASSAYLAAAEDKDRLELVRHKVRQIAELGRRVEALEQERESLAHTASL
                     REQQVQELQQHVQLLMDKNHAKQQVICKLSEKVTQDFTHPPDQSPLRPDAANRDFLSQ
                     QGKIEHLKDDMEAYRTQNCFLNSEIHQVTKIWRKVAEKEKALLTKCAYLQARNCQVES
                     KYLAGLRRLQEALGDEASECSELLRQLVQEALQWEAGEASSDSIELSPISKYDEYGFL
                     TVPDYEVEDLKLLAKIQALESRSHHLLGLEAVDRPLRERWAALGDLVPSAELKQLLRA
                     GVPREHRPRVWRWLVHLRVQHLHTPGCYQELLSRGQAREHPAARQIELDLNRTFPNNK
                     HFTCPTSSFPDKLRRVLLAFSWQNPTIGYCQGLNRLAAIALLVLEEEESAFWCLVAIV
                     ETIMPADYYCNTLTASQVDQRVLQDLLSEKLPRLMAHLGQHHVDLSLVTFNWFLVVFA
                     DSLISNILLRVWDAFLYEGTKVVFRYALAIFKYNEKEILRLQNGLEIYQYLRFFTKTI
                     SNSRKLMNIAFNDMNPFRMKQLRQLRMVHRERLEAELRELEQLKAEYLERRASRRRAV
                     SEGCASEDEVEGEA"
     exon            478..619
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            620..755
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            756..889
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            890..1086
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1087..1482
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1593
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1594..1781
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1782..2258
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            2259..2379
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            2380..2565
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            2566..2687
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     exon            2688..3265
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3216..3221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /note="hexamer: TATAAA"
     polyA_site      3243
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
                     /note="major polyA site"
     polyA_site      3265
                     /gene="TBC1D2"
                     /gene_synonym="PARIS-1; PARIS1; TBC1D2A"
ORIGIN      
        1 gcccccgccc aggtgtctcc ctttgggaag ctgcccgccg agtctccgag atttgtccct
       61 ggtggtcccg cggacccctc gtccctccgc agtctccggc tggcagcgat ggagggcgct
      121 ggggagaacg ccccggagtc cagctcctct gcccctgggt ccgaagagtc tgccagggat
      181 ccacaggtgc cgcctccgga ggaagaatcg ggggactgcg cccggtccct ggaggcggtc
      241 cccaagaaac tctgtgggta tttaagtaag ttcggcggca aagggcccat ccggggctgg
      301 aaatcccgct ggttcttcta cgacgaaagg aaatgtcagc tgtattactc gcggaccgct
      361 caggatgcca atcccttgga cagcatcgac ctctccagtg cagtgtttga ctgtaaggcg
      421 gacgctgagg aggggatctt cgaaatcaag actcccagcc gggttattac cctgaaggcc
      481 gccaccaagc aagcgatgct gtactggctg cagcagctgc agatgaagcg ctgggaattc
      541 cacaacagcc cgccggcacc tcctgccacc cctgatgccg ccctggctgg gaatgggccc
      601 gtcctgcacc tcgagctagg gcaagaagag gcagagctgg aggagttcct gtgccctgtg
      661 aaaacacccc ctgggctagt gggcgtggca gctgccttgc agcccttccc tgcccttcag
      721 aatatttccc tcaagcacct ggggactgaa atacagaaca caatgcacaa catccgtggc
      781 aacaagcagg cccagggaac aggccatgaa cctccagggg aagattctcc acagagtggg
      841 gagcctcaga gggaggagca gcccttggcc tctgacgcca gcaccccagg gagagagcca
      901 gaggattctc caaagcctgc acccaagcct tctctgacca tcagtttcgc tcagaaagcc
      961 aagcgccaga acaacacctt cccattcttt tctgaaggaa tcacacggaa ccgaactgcc
     1021 caggagaaag tggcagcctt ggagcaacag gttctgatgc tcaccaagga gttaaagtct
     1081 cagaaggagc tagtgaagat cctgcacaag gcactggagg ccgcccagca ggagaagcgg
     1141 gcgtccagcg catacctggc ggcggctgag gacaaggacc ggctggagct ggtgcggcac
     1201 aaagtgcggc agatcgcgga gctgggccgg cgggtggagg ccctggagca ggagcgggag
     1261 agcctggcgc acacagcgag cctgcgggag cagcaggtgc aggagctaca gcagcacgtg
     1321 cagctgctta tggacaagaa ccacgccaag cagcaggtca tctgcaagct ctctgagaag
     1381 gtcacccagg acttcacgca cccccctgac cagtctcctt tgcgccccga cgctgccaac
     1441 agggacttcc tgagccagca ggggaagata gagcacctga aggatgacat ggaagcttac
     1501 cggacccaga actgcttcct caactccgag atccaccagg tcacaaagat ctggagaaag
     1561 gtggctgaga aggagaaggc ccttctgacg aagtgcgcct acctccaagc cagaaactgc
     1621 caggtggaaa gcaagtacct ggccggtctg agaaggctgc aggaggccct gggggacgaa
     1681 gccagcgagt gctcagagct gctgaggcag cttgtccagg aggcactgca gtgggaagct
     1741 ggggaggcct catctgacag catcgagctg agccccatca gtaagtatga tgagtacggc
     1801 ttcctgacgg tgcccgacta tgaggtggaa gacctgaagc tgctggccaa gatccaggca
     1861 ttggagtcac gatcccacca cctgctgggc ctcgaggctg tggatcggcc gctgagggag
     1921 cgctgggctg ccctgggcga tcttgtgccc tcagccgagc tcaagcagct actgcgggca
     1981 ggagtacccc gtgaacaccg gcctcgtgtc tggaggtggc tggtccacct ccgtgtccag
     2041 cacctgcaca ctccaggctg ctaccaggaa ctgctgagcc ggggccaggc ccgcgagcac
     2101 cctgctgccc gccagattga gctggacctg aaccggacct tccccaacaa caaacacttc
     2161 acctgcccca cctccagctt ccccgacaag ctccgccggg tgctgctggc cttctcctgg
     2221 cagaacccca ccatcggcta ctgccagggc ctgaacaggc tggcggccat tgccctgctg
     2281 gtcctagagg aggaggagag cgccttctgg tgcctggtgg ccattgtgga gaccatcatg
     2341 cccgctgatt actactgcaa cacgctgacg gcatcccagg tggaccagcg ggtgctccag
     2401 gacctgctct cggagaagct gcccaggctg atggcccatc tggggcagca ccacgtggat
     2461 ctctccctcg tcaccttcaa ctggttcctc gtggtctttg cggacagtct cattagcaac
     2521 atcctccttc gggtctggga tgccttcctg tacgagggga cgaaggtggt gtttcgctat
     2581 gccttggcca ttttcaagta caacgagaag gagatcttga ggctacagaa tggcctggaa
     2641 atctaccagt acctgcgctt cttcaccaag accatctcca acagccggaa gctgatgaac
     2701 atcgccttca atgacatgaa ccccttccgc atgaaacagc tgcggcagct gcgcatggtc
     2761 caccgggagc ggctggaggc tgagctgcgg gagctggagc agcttaaggc agagtacctg
     2821 gagaggcggg catcccggcg cagagctgtg tccgagggct gtgccagcga ggacgaggtg
     2881 gagggggaag cctgacttgg ccacctcccc tccccacagc cttcctcacc cttggctggc
     2941 agacccactg gaggtcaggc acggaccagt ggcccagccc tgggtgtccc atcaccatgt
     3001 gaccttggac atgtcccttc ccctctctgg ccctcagttt ccccactggg acattgtgtg
     3061 ctgcaaagcc attggttggg ctacttcttc ataggcactt acttacccag ggatgccacc
     3121 ctttcgtcac ctcttccaca gagcactttg gcatgtaaac aagcaagagc actgcctcta
     3181 tagggtaacc tggaacattc tctaggttat atcaatataa aacaatgtaa atggtggaaa
     3241 tcattcataa gctttggaac ttaaa
//
