LOCUS       NM_015279               7764 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens TBC1 domain family member 30 (TBC1D30), transcript
            variant 1, mRNA.
ACCESSION   NM_015279 XM_001716833 XM_003118948 XM_003118949 XM_003118950
            XM_003118951 XM_003119536 XM_003119537 XM_003119538 XM_003119539
            XM_003120745 XM_003120746 XM_003120747 XM_003120748 XM_037557
            XM_939476
VERSION     NM_015279.2
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 7764)
  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 7764)
  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   3  (bases 1 to 7764)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC377016.1, AC025262.27, AB449914.1, AC078815.22 and BM678817.1.
            
            On May 17, 2019 this sequence version replaced NM_015279.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.162541.1,
                                           SRR1660805.141761.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000539867.6/ ENSP00000440207.1
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                DC377016.1         76-126
            52-189              DC377016.1         128-265
            190-190             AC025262.27        18578-18578         c
            191-387             DC377016.1         267-463
            388-1997            AB449914.1         155-1764
            1998-7303           AC078815.22        33879-39184
            7304-7753           BM678817.1         13-462              c
            7754-7764           AC078815.22        39635-39645
FEATURES             Location/Qualifiers
     source          1..7764
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.3"
     gene            1..7764
                     /gene="TBC1D30"
                     /note="TBC1 domain family member 30"
                     /db_xref="GeneID:23329"
                     /db_xref="HGNC:HGNC:29164"
                     /db_xref="MIM:615077"
     exon            1..387
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     CDS             234..2519
                     /gene="TBC1D30"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="TBC1 domain family member 30 isoform 1"
                     /protein_id="NP_056094.1"
                     /db_xref="CCDS:CCDS53813.1"
                     /db_xref="GeneID:23329"
                     /db_xref="HGNC:HGNC:29164"
                     /db_xref="MIM:615077"
                     /translation="MRQDKLTGSLRRGGRCLKRQGGGVGTILSNVLKKRSCISRTAPR
                     LLCTLEPGVDTKLKFTLEPSLGQNGFQQWYDALKAVARLSTGIPKEWRRKVWLTLADH
                     YLHSIAIDWDKTMRFTFNERSNPDDDSMGIQIVKDLHRTGCSSYCGQEAEQDRVVLKR
                     VLLAYARWNKTVGYCQGFNILAALILEVMEGNEGDALKIMIYLIDKVLPESYFVNNLR
                     ALSVDMAVFRDLLRMKLPELSQHLDTLQRTANKESGGGYEPPLTNVFTMQWFLTLFAT
                     CLPNQTVLKIWDSVFFEGSEIILRVSLAIWAKLGEQIECCETADEFYSTMGRLTQEML
                     ENDLLQSHELMQTVYSMAPFPFPQLAELREKYTYNITPFPATVKPTSVSGRHSKARDS
                     DEENDPDDEDAVVNAVGCLGPFSGFLAPELQKYQKQIKEPNEEQSLRSNNIAELSPGA
                     INSCRSEYHAAFNSMMMERMTTDINALKRQYSRIKKKQQQQVHQVYIRADKGPVTSIL
                     PSQVNSSPVINHLLLGKKMKMTNRAAKNAVIHIPGHTGGKISPVPYEDLKTKLNSPWR
                     THIRVHKKNMPRTKSHPGCGDTVGLIDEQNEASKTNGLGAAEAFPSGCTATAGREGSS
                     PEGSTRRTIEGQSPEPVFGDADVDVSAVQAKLGALELNQRDAAAETELRVHPPCQRHC
                     PEPPSAPEENKATSKAPQGSNSKTPIFSPFPSVKPLRKSATARNLGLYGPTERTPTVH
                     FPQMSRSFSKPGGGNSGTKKR"
     exon            388..449
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     exon            450..515
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     exon            516..641
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     exon            642..827
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     exon            828..996
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1165
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1271
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1384
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     exon            1385..1524
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     exon            1525..1731
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     exon            1732..7764
                     /gene="TBC1D30"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2740..2745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D30"
                     /note="hexamer: AATAAA"
     polyA_site      2767
                     /gene="TBC1D30"
     regulatory      5342..5347
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D30"
                     /note="hexamer: CATAAA"
     polyA_site      5364
                     /gene="TBC1D30"
                     /note="major polyA site"
     regulatory      5666..5671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D30"
                     /note="hexamer: AATATA"
     polyA_site      5687
                     /gene="TBC1D30"
     regulatory      5734..5739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D30"
                     /note="hexamer: TATAAA"
     polyA_site      5757
                     /gene="TBC1D30"
     regulatory      7531..7536
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D30"
                     /note="hexamer: ATTAAA"
     polyA_site      7551
                     /gene="TBC1D30"
ORIGIN      
        1 agccttgcag gctccgcact gcagatgcct gctggcttcc ctgcgctcgg cggctcccgc
       61 ggtgccccgt aagtccccgt gaccctccag caccagccgg ctgtgcgctc cctgctccca
      121 cgggccggtc agccgcagac actcacccag ctccgcgagc tcagccgctc agcgagtggg
      181 gtagcgggga ccgagacgga cggtagccgt gccagagccc ggggcgctct cggatgcggc
      241 aggacaagct gaccgggtct ctgaggcgcg gggggagatg cctgaagcgg cagggcggcg
      301 gcgtgggcac catcctgagc aatgtgctca agaagcgcag ctgcatttcc cggaccgcgc
      361 cccggctgct gtgcaccctg gagccgggag ttgataccaa gttgaaattc actcttgagc
      421 catctttagg tcaaaatggt tttcagcagt ggtacgatgc tctcaaggca gttgccaggc
      481 tatccacagg aataccaaag gaatggagga gaaaggtttg gttgaccttg gcagatcatt
      541 atttgcacag tatagccatt gactgggaca aaaccatgcg cttcactttc aatgaaagga
      601 gtaatcctga tgatgactcc atgggaattc agatagtcaa ggaccttcac cgcacaggct
      661 gtagttctta ctgtggccag gaggctgagc aggacagggt tgtgttgaag cgggtgctgc
      721 tggcctatgc ccgatggaac aaaactgttg ggtactgcca aggctttaac atcctggctg
      781 cactaattct ggaagtgatg gaaggcaatg aaggggatgc cctgaaaatt atgatttacc
      841 ttattgataa ggtacttccc gaaagctatt tcgtcaataa tctccgggca ttgtctgtgg
      901 atatggctgt cttcagagac cttttaagaa tgaagctgcc ggaattatct cagcacctgg
      961 atactcttca gagaactgca aacaaagaaa gtggaggtgg atatgagccc ccacttacaa
     1021 atgtcttcac gatgcagtgg tttctgactc tctttgccac atgcctccct aatcagaccg
     1081 ttttaaagat ctgggattca gtcttctttg aaggttcaga aatcatccta agggtgtcgc
     1141 tggctatctg ggcaaaatta ggagagcaga tagaatgttg tgaaacagca gatgaattct
     1201 acagcaccat ggggcgcctt acccaggaga tgctagagaa tgatcttctg caaagccatg
     1261 aactcatgca gactgtttat tccatggctc cgttcccttt cccacaattg gcagagttga
     1321 gggaaaaata cacctacaac attacaccgt tcccagccac agttaaaccc acctcagttt
     1381 ctggacgaca tagtaaggcc agagacagtg atgaagagaa tgacccagac gatgaggatg
     1441 ctgtcgttaa tgcagtgggg tgtcttggac cttttagtgg gttcctggct cctgaactgc
     1501 agaagtacca aaaacaaatt aaagagccaa atgaggagca gagtctgaga tctaataaca
     1561 ttgcagagct gagtccagga gcaatcaatt cctgtcgaag tgaataccat gcagctttta
     1621 acagtatgat gatggaacgc atgaccacag atatcaatgc actgaagcgg cagtactctc
     1681 gaattaaaaa gaagcaacag cagcaggttc atcaggtgta catcagggca gacaaagggc
     1741 cagtgaccag cattctcccg tctcaggtaa acagttctcc agttataaac caccttcttt
     1801 taggaaagaa gatgaaaatg actaacagag ctgccaagaa tgctgtcatc cacatccctg
     1861 gtcacacagg agggaaaata tctcctgtcc cctacgaaga ccttaagacg aagctcaact
     1921 ccccgtggcg aactcacatc cgagtccaca aaaagaacat gccaaggacc aagagtcatc
     1981 cgggctgtgg ggacaccgta gggctgatag atgagcagaa cgaggccagc aagaccaatg
     2041 ggctgggggc agcagaggca ttcccctctg gttgtacagc gacagctggg agagaaggca
     2101 gcagccctga aggcagtacc aggaggacga tcgaggggca gtctccggag ccggtgttcg
     2161 gagatgctga tgtggatgtg tctgcagttc aggcgaagtt gggagccctg gaactgaacc
     2221 agagggatgc tgcagctgaa actgagctca gggtgcaccc accctgccag cggcactgcc
     2281 cagagccgcc gagtgcaccc gaagaaaaca aagccaccag caaagctccc caaggcagca
     2341 actcaaaaac ccccatcttt agcccttttc ccagcgtcaa gcccctgcgg aaatctgcta
     2401 ctgccaggaa cttgggatta tatggcccta cagaaagaac cccaactgtg cactttcctc
     2461 aaatgagtag gagcttcagc aaacccggcg gtggaaacag tggcactaaa aaacgatgat
     2521 gtctccccga aactttgtat ctggactcac cttttcacag tagtataagg gttgcagctg
     2581 aatggctcta aaagagtttt atttgtccag tgaaaatgaa taggttcagg gatgagcaac
     2641 agcccataaa aaatgggaac tggaagtttt ataataggag ttagaacagg gctgttttcc
     2701 cagctacttg ctaactgacg aagtggattc ttgtggcaaa ataaatattg tggttttata
     2761 gtgtgaagtt ttcccaattt ttcattgtga gctgtttaaa aaagactata tctagattgt
     2821 taactctcgt ccatccttct gttctggggg ccttcagagt ccctgtgaca gcacccccaa
     2881 accttccagt tctctgggtg ttactaatac tcaagcatgc acataccagc ttgctaggac
     2941 agaaactgta aaaagaaagt aagtttcttc gttacaaaaa acttcctgat tttccttttc
     3001 atgctttacg gaggggattg tgtcgtgtga gatttcccac agtaccagtt tcaaattttt
     3061 tttttattct tatgctaaat cataggagaa aaatctagat agcctttctt taactgtcta
     3121 tttctacctg caaaatgaag aaaacctttc atctgttgaa atttcaatcg ataacccagc
     3181 tgaagatctt atgcacagga cacacttggc atatgcttta cgcagttgct ccggacagct
     3241 tgctcgcgcc actgagcttt tcctgaggtt tgtgttcgcc tctcaaggag agctttgatc
     3301 ctcagtggta cggatgactt gatgggctcc atgcggagcc tggcctgcat cccccaccac
     3361 acagctcact cacccaccag ctctagactg cagacgcaca aggcctctgc tcagaagcca
     3421 gaacacagca cctgtgactc tgttacttga attttgtgct ttttgattgg agtcctttgt
     3481 tgagtacttt gttaattgaa cactgccttt ctctggagaa ggccccagtg ctttctagct
     3541 ccctctcact cctgcccttt ctagctctct ctcacccagc gggtcaggga tagcacctct
     3601 tgtctccact atgcagatgg gaactctgag ccacacagag gtgaagtagc acttcagtta
     3661 ctcaaggtca gtactctcgg tattccaagt gacttagcca catttccttc agtgcaatag
     3721 gtgggtttaa tgctctttgt acacagatgt attggctaca tagcgtgtaa aaaccaagac
     3781 tgggaagcca ttcactaaaa tccctcctga ctcaaaggac ctgtctccag atggtacaga
     3841 gtcccttgat ggcattttac aaaaccagct ctgacttcct tatcctgaac agggagttta
     3901 ttttaaaaat gcttcatgca cctgttattt ggctgaacag aaggctcact cctcaatccc
     3961 cttctcctcg ccatcattag aggaatagac tcagccttca tgtttgtctc tggaagacga
     4021 ttggcgatac ttgcaggaat attgttgatg cagccaatat taatttgagc taatggattg
     4081 ttaattctga aacgaaaact gtaactgtag agcaggcttt tactatgaga ggtactactt
     4141 tttataatag agaatgtggt tgtgtgggct ttttttgaac agaaaacaca acaatgacct
     4201 ataccgtgag aaaagccatt ttatcttctt cgtggtattt ttacccccaa aggaactgaa
     4261 gatggaaaat atgactaata agttattgca gttttggtct tgaattctgt gccatctgaa
     4321 gttagcatcc agcttcttaa aaagcagcca cgcctacagc ctgttttttg ggaaggctgt
     4381 aggtggagag atgggcttat tttgcatacc accctcaggg cccagagacc cactgcattt
     4441 tccaaagtta agcaaatgac accattttct tccatcagct aaactttaca gataatagtg
     4501 tttccacctc atatcctttt ctttgcccct tctcaaatga gtcagaatag tcatgttccc
     4561 cttgagggat gtctgacttg aatggagaat tgttctttcc tctcttgaat cagctcacta
     4621 gctccctgat ggtctgggtt caaggaaatg gttaatgagg tagaggccac ttatacaagt
     4681 ccttgggatt gtaccattgc tgtccacaaa cttagtatca acaacacatg ctgtgccctg
     4741 tgaacactct cctctcacct atttccaggg ttggtcttcc tgagaagggg atggatgagg
     4801 taacacacag tttgggatac gtatctgttg aatgaatgaa taagtgaaag gataatagtc
     4861 ctctgaggta aaaatggcct tgtcagaatt ttgaaaatcc aacagattcc tattaaagca
     4921 ctctgtgtac caataacatg catgcattgt accaagtaat cacaatgtga attggtcaat
     4981 ttatgagcct tgcctacttt agaaaataaa gaaacctgca gtagcctcta ccacacagca
     5041 tgtacaaaga ccagtatgga cttgctatct tccctatgta ttggacactg tatgcaaaca
     5101 ccagaagtac ttaacaagta gtggtttctt gatttttaga tatgtctgta gcctcttagc
     5161 ccttttgccg ggaatcaact cattctgatg cctctgcacc tcagttcctc ttacaaaagc
     5221 ctccagatga tctaaatcta gttagcaatg tcagcctgtg gactgcagct gtttgggaca
     5281 ttgtattcct ttgtttgtct cttgttgttc tgaaggattg tattgatcac aaagctatat
     5341 gcataaagat tctcattgtt gtaactgttc tgccattttc tgagtgcaag catggaacac
     5401 tgttgtgaca gtcccttctc ccttcttcct tcttccttca cccccaaccc cagacccccc
     5461 ttggtcacat gaaccaggga aacagcccaa taagctctat ctcccccagt ctaatcgctg
     5521 ggttgcaggg tggcctgtga cctgcccagc atttgcagac tcgctggttc ctgaatatga
     5581 gtaagcacag agtttaccta gagagtttac ctaaaattaa cctttagatc tactatttat
     5641 ttttgtctta ataaaatgaa caataaatat agtttagctg catggcatta aggattctgt
     5701 atgaatagat gtatagttgc tgccatctcc ccatataaaa actctcttta catcgtttct
     5761 gagccacttt ctttgctgtc tgcagcattt aaaatatatt atttttccta attagaaaag
     5821 tcacaggttt tagaaaattg ggaaaacaaa aagagcataa agaatcatca atactctgat
     5881 atagatatag atctttccag tacgtttgtg tatgtgtgta cacgccatta tctacaaaaa
     5941 agttatgttg aacatggtag tttaagctgt ctttctggta aatgctctta tacaatatga
     6001 tttttagtga ctaatattcc ctaatgtgtt catgccagaa ttcacataac cagtaccttg
     6061 tcaaatagga ggtttctgat tagatagtag tagagacagt atcctgttac atgtatgtac
     6121 atagcccgaa ttattttctt aggatatgcg tatagaagtg gagttgaagg gtcaggaaat
     6181 atgtccattt ttaagataca tatatctcca aattgccatt cttaaaggtt ggagttatac
     6241 aagtagtgaa tgagaatgcc tgcttctcta catcctggaa gaggcagcag tctctttcct
     6301 tttttttcct ttctatgact tctagtgtgg aagtgccaac agaagtgttt tagaagcagt
     6361 gataatgaac actcataaca cccatacctc attcctgact tttaaaagaa gcattaagta
     6421 agatgttgag gtttctggta ggtgcctatt attaggttaa gaaaattccc ttttattctt
     6481 tgcttgctaa gagttttctt catcaacagg tattgaattt cataaaaaga actttaattg
     6541 tatcttttga gaagggaata gtacttgaga cttggtatcc tgaactcaaa gaaatagcca
     6601 ttactaggtt ttgtcaaaga ataccagata ttttagagtt ggaagttatg cagtaaaagc
     6661 tttatgtgca aatgttcatt gaagtattaa atgtactaat ggaaacctga aaacaatata
     6721 aacatctggg aataggggag atgtttggat gaattatgat tcatccccag gatggaaatg
     6781 tgaaggccgg tgagtatttg gaccattgaa gtgggagtta tctgttatcc acatcaggca
     6841 gctcagagta aagtcagcaa gtctacagtc atagagccac caggatacag tgatggatgg
     6901 gaggcctttg ctggacagtg gctgaaggca gaactgttgg agtggttctt ccacaaaggc
     6961 agccagtgct cacctgaatg gggactggta ctgtaggtat tgggtcagct ttcatgccgt
     7021 tccctgctgg ccatctccca atgctgaatg tctgactcag ttcaggctgc tgtaacaaag
     7081 taccatagac tgaggtggct taaacacaga catttctttc tcacagttct ggaggctgag
     7141 aagtcaaaga tcaacgtgtc tgcaaatttg gtatctggtg aggaagggcc ctcttcctgg
     7201 tttgcagatg gctaccttct cactgtgtcc tcacacaatg gagaaaggga gtatgttttg
     7261 gtctcttcct cttctgataa gggcactaac ctcatcatga gggtcccatc ctcctggtgt
     7321 catctaaacc taattacctc ccaatggccc cgccttcaaa taccatcacg ttgaaggttg
     7381 cttccttcct ggtcgtttgc tctggtgaga ccaaatgacc tgcaaagtgt cacttgattc
     7441 cattctctcc atcccttcca tcccaggcaa tctttatcta gctacaccaa cctgtgcccc
     7501 aggggcttca agagttgttg ttgttttaac attaaaaaac cagaaagttc acttgtttct
     7561 tagtgtttac atccttgcta taacaattct agttttcctt taggcaatgc tgatcactgg
     7621 gaaggaggtg gatcaattct cctatgggac caacagtttt ctgggaagaa acttcctgat
     7681 acctcagcct aggaatctcc ctatccctgg agagtccagg aatctatatt aaaacatgaa
     7741 acaaagcaaa aaataaaaaa aaac
//
