LOCUS       NM_145647               3478 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens TBC1 domain family member 31 (TBC1D31), transcript
            variant 1, mRNA.
ACCESSION   NM_145647
VERSION     NM_145647.4
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 3478)
  AUTHORS   Cao,P., Chen,H., Zhang,Y., Zhang,Q., Shi,M., Han,H., Wang,X.,
            Jin,L., Guo,B., Hao,R., Zhao,X., Li,Y., Gao,C., Liu,X., Wang,Y.,
            Yang,A., Yang,C., Si,A., Li,H., Song,Q., He,F. and Zhou,G.
  TITLE     Genomic Amplification of TBC1D31 Promotes Hepatocellular Carcinoma
            Through Reducing the Rab22A-Mediated Endolysosomal Trafficking and
            Degradation of EGFR
  JOURNAL   Adv Sci (Weinh) 11 (40), e2405459 (2024)
   PUBMED   39206796
  REMARK    GeneRIF: Genomic Amplification of TBC1D31 Promotes Hepatocellular
            Carcinoma Through Reducing the Rab22A-Mediated Endolysosomal
            Trafficking and Degradation of EGFR.
REFERENCE   2  (bases 1 to 3478)
  AUTHORS   Saygili,S., Kosukcu,C., Bastug,T., Dogan,O.A., Yilmaz,E.K.,
            Kalyoncu,A.U., Agbas,A., Canpolat,N., Caliskan,S. and Ozaltin,F.
  TITLE     A novel homozygous missense variant in TBC1D31 in a consanguineous
            family with congenital anomalies of the kidney and urinary tract
            (CAKUT)
  JOURNAL   Clin Genet 104 (6), 679-685 (2023)
   PUBMED   37468454
  REMARK    GeneRIF: A novel homozygous missense variant in TBC1D31 in a
            consanguineous family with congenital anomalies of the kidney and
            urinary tract (CAKUT).
REFERENCE   3  (bases 1 to 3478)
  AUTHORS   Senatore,E., Chiuso,F., Rinaldi,L., Intartaglia,D., Delle Donne,R.,
            Pedone,E., Catalanotti,B., Pirone,L., Fiorillo,B., Moraca,F.,
            Giamundo,G., Scala,G., Raffeiner,A., Torres-Quesada,O., Stefan,E.,
            Kwiatkowski,M., van Pijkeren,A., Morleo,M., Franco,B., Garbi,C.,
            Conte,I. and Feliciello,A.
  TITLE     The TBC1D31/praja2 complex controls primary ciliogenesis through
            PKA-directed OFD1 ubiquitylation
  JOURNAL   EMBO J 40 (10), e106503 (2021)
   PUBMED   33934390
REFERENCE   4  (bases 1 to 3478)
  AUTHORS   Gupta,G.D., Coyaud,E., Goncalves,J., Mojarad,B.A., Liu,Y., Wu,Q.,
            Gheiratmand,L., Comartin,D., Tkach,J.M., Cheung,S.W., Bashkurov,M.,
            Hasegan,M., Knight,J.D., Lin,Z.Y., Schueler,M., Hildebrandt,F.,
            Moffat,J., Gingras,A.C., Raught,B. and Pelletier,L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
REFERENCE   5  (bases 1 to 3478)
  AUTHORS   Jakobsen,L., Vanselow,K., Skogs,M., Toyoda,Y., Lundberg,E.,
            Poser,I., Falkenby,L.G., Bennetzen,M., Westendorf,J., Nigg,E.A.,
            Uhlen,M., Hyman,A.A. and Andersen,J.S.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK056434.1, BC143525.1, BC101724.1 and CA429516.1.
            
            On Nov 23, 2018 this sequence version replaced NM_145647.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056434.1, SRR1803615.254251.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287380.6/ ENSP00000287380.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AK056434.1         29-34
            7-2469              BC143525.1         1-2463
            2470-3281           BC101724.1         2464-3275
            3282-3478           CA429516.1         16-212              c
FEATURES             Location/Qualifiers
     source          1..3478
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.13"
     gene            1..3478
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /note="TBC1 domain family member 31"
                     /db_xref="GeneID:93594"
                     /db_xref="HGNC:HGNC:30888"
     exon            1..140
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..3264
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /note="isoform 1 is encoded by transcript variant 1; WD
                     repeat-containing protein 67; WD repeat domain 67"
                     /codon_start=1
                     /product="TBC1 domain family member 31 isoform 1"
                     /protein_id="NP_663622.2"
                     /db_xref="CCDS:CCDS6338.1"
                     /db_xref="GeneID:93594"
                     /db_xref="HGNC:HGNC:30888"
                     /translation="MQSTDLGNKESGKIWHRKPSPATRDGIIVNIIHNTSDYHPKVLR
                     FLNVAFDGTGDCLIAGDHQGNIYVFDLHGNRFNLVQRTAQACTALAFNLRRKSEFLVA
                     LADYSIKCFDTVTKELVSWMRGHESSVFSISVHASGKYAITTSSDTAQLWDLDTFQRK
                     RKLNIRQSVGIQKVFFLPLSNTILSCFKDNSIFAWECDTLFCKYQLPAPPESSSILYK
                     VFAVTRDGRILAAGGKSNHLHLWCLEARQLFRIIQMPTKVRAIRHLEFLPDSFDAGSN
                     QVLGVLSQDGIMRFINMQTCKLLFEIGSLDEGISSSAISPHGRYIASIMENGSLNIYS
                     VQALTQEINKPPPPLVKVIEDLPKNKLSSSDLKMKVTSGRVQQPAKSRESKMQTRILK
                     QDLTGDFESKKNELPDGLNKKRLQILLKGYGEYPTKYRMFIWRSLLQLPENHTAFSTL
                     IDKGTHVAFLNLQKKYPIKSRKLLRVLQRTLSALAHWSVIFSDTPYLPLLAFPFVKLF
                     QNNQLICFEVIATLIINWCQHWFEYFPNPPINILSMIENVLAFHDKELLQHFIDHDIT
                     SQLYAWPLLETVFSEVLTREEWLKLFDNIFSNHPSFLLMTVVAYNICSRTPLLSCNLK
                     DDFEFFFHHRNNLDINVVIRQVYHLMETTPTDIHPDSMLNVFVALTKGQYPVFNQYPK
                     FIVDYQTQERERIRNDELDYLRERQTVEDMQAKVDQQRVEDEAWYQKQELLRKAEETR
                     REMLLQEEEKMIQQRQRLAAVKRELKVKEMHLQDAARRRFLKLQQDQQEMELRRLDDE
                     IGRKVYMRDREIAATARDLEMRQLELESQKRLYEKNLTENQEALAKEMRADADAYRRK
                     VDLEEHMFHKLIEAGETQSQKTQKVIKENLAKAEQACLNTDWQIQSLHKQKCDDLQRN
                     KCYQEVAKLLRENRRKEIEIINAMVEEEAKKWKEAEGKEFRLRSAKKASALSDASRKW
                     FLKQEINAAVEHAENPCHKEEPRFQNEQDSSCLPRTSQLNDSSEMDPSTQISLNRRAV
                     EWDTTGQNLIKKVRNLRQRLTARARHRCQTPHLLAA"
     exon            141..287
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            288..403
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            404..582
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            583..734
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            735..894
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1095
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1272
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1352
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..1499
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..1633
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1767
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            1768..1947
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            1948..2180
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            2181..2333
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            2334..2469
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            2470..2562
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            2563..2703
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            2704..2898
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            2899..3037
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            3038..3130
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     exon            3131..3478
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3452..3457
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /note="hexamer: AATAAA"
     polyA_site      3478
                     /gene="TBC1D31"
                     /gene_synonym="Gm85; WDR67"
                     /note="major polyA site"
ORIGIN      
        1 ctgccgggaa ggcgctggga cggttaccca gcgggccgcc ggcggtcgtg ggcaagcttc
       61 gccatgcaga gcactgacct aggcaacaag gagagcggca agatatggca ccgcaagccg
      121 tccccggcca cgcgggacgg aattatagtg aacattattc acaacacttc cgattaccat
      181 ccaaaagttt tgcgattttt gaatgtggct tttgatggca caggcgactg cttaattgct
      241 ggggaccacc aaggaaatat ttatgttttt gacttacatg gaaacaggtt caatcttgtt
      301 cagcgaacag cacaagcttg cacagctctg gcctttaatc ttcgtaggaa atctgaattc
      361 cttgtggcat tagctgatta ttctattaaa tgttttgata cagtcaccaa ggagctagtt
      421 agctggatga gaggacatga atcatcagta ttttcgatct ctgtgcatgc atcagggaaa
      481 tatgccatca caacttcttc tgatacagca caattatggg acttggatac ctttcagaga
      541 aaaagaaagc tgaatattcg ccagtctgtg ggtatacaga aggttttctt tctaccatta
      601 agtaatacca tcctcagctg ttttaaagat aattccattt ttgcctggga atgtgacaca
      661 cttttttgca aatatcaatt gccagctcca cctgaaagct ctagtatatt atacaaagtg
      721 tttgctgtaa ccagagatgg ccgaatcctg gctgctggag gcaagtcaaa tcatcttcat
      781 ttgtggtgct tggaagctag gcagctcttt agaattatcc agatgcccac taaagttcga
      841 gccattcgcc atctggaatt tcttcctgat agttttgatg ctggttctaa tcaggttctt
      901 ggagtactaa gtcaagatgg tattatgaga tttatcaata tgcagacttg taaacttctc
      961 tttgagattg ggagcctcga tgaaggaatt agctcatcag caattagccc acatggacgg
     1021 tacattgcat ctattatgga aaatggaagt ctaaacatat attcagttca ggctttaaca
     1081 caagaaataa ataagccacc tccgccttta gtgaaagtta ttgaagattt gcccaagaat
     1141 aaactgagtt ccagtgatct taagatgaaa gtaacatcag ggagagtaca gcagccagca
     1201 aaatctaggg aaagcaaaat gcaaactaga atattaaaac aagacctgac tggtgatttt
     1261 gaaagtaaaa agaatgaatt accagatgga ttaaacaaaa agcgtttaca aatcttatta
     1321 aaaggctatg gtgaatatcc aacaaaatac agaatgttca tttggcgctc tctgctacaa
     1381 ctgcctgaaa atcatactgc gtttagtacc ctcatagata aggggactca tgtggcattt
     1441 ctcaaccttc agaagaaata ccccatcaaa agtaggaagc tactcagagt attacagaga
     1501 accttatctg cattagctca ctggtctgtc atttttagtg acacaccata tcttccactc
     1561 ttggcatttc catttgtaaa attattccag aacaaccaac tcatctgttt tgaagttatt
     1621 gctactctca taatcaattg gtgtcaacac tggtttgaat attttcctaa tcctcctatc
     1681 aatattctta gcatgataga aaatgttttg gcatttcatg acaaggaact gctgcaacac
     1741 ttcatagatc atgatataac ctcccagcta tatgcatggc ctcttcttga aactgtgttc
     1801 tcagaagtgc tgacaagaga ggagtggctg aaattgttcg ataatatctt ttccaaccat
     1861 ccttccttcc ttctgatgac tgttgtagcc tacaacatat gttctagaac gcctctgctc
     1921 agctgtaatc ttaaagatga ctttgagttt ttttttcacc atcggaataa cctggatata
     1981 aatgttgtga ttagacaagt ttatcatctc atggagacca cgcctactga cattcatcca
     2041 gacagcatgc ttaatgtttt tgttgcactg acaaaagggc agtatccagt atttaatcaa
     2101 tatccaaagt ttattgtgga ctatcaaaca caggaacgag aaagaataag gaatgatgaa
     2161 ttggattact taagagagag gcagacagtt gaagatatgc aagctaaagt cgaccagcaa
     2221 agagttgaag atgaagcttg gtaccagaaa caggagctgc ttcgtaaagc tgaagaaaca
     2281 agaagagaaa tgctcttaca agaggaggag aaaatgatac aacaaagaca gaggctagct
     2341 gctgtgaaaa gagagctgaa agtaaaggaa atgcacttac aagatgctgc aagaaggcgt
     2401 tttctgaagc ttcagcaaga tcaacaggaa atggaactaa gaagactgga tgatgaaatt
     2461 gggagaaagg tatatatgag agatcgagaa attgctgcca cagccagaga cctagaaatg
     2521 agacagctgg aactcgaatc acaaaagaga ctttatgaga agaatcttac tgaaaatcaa
     2581 gaagctcttg caaaagaaat gcgagcagat gcagatgcct atagacgaaa agtggatctt
     2641 gaagaacaca tgtttcataa gctgatagaa gcaggtgaaa cccagagcca gaaaactcag
     2701 aaggtgatta aagaaaattt ggcaaaggct gaacaagcat gcctaaatac cgactggcag
     2761 attcagtctt tacataaaca aaaatgtgat gatctacaac gaaacaaatg ttaccaggaa
     2821 gtagccaaac tccttaggga aaacagaagg aaagaaatag agataataaa tgcaatggtg
     2881 gaggaggaag ccaagaagtg gaaggaagct gaaggaaaag agttccgttt gagatcagca
     2941 aagaaagctt ctgctctttc agatgcgtct agaaagtggt ttttaaagca agagataaat
     3001 gcggctgtag aacatgctga aaatccatgt cataaagaag aacccaggtt ccaaaatgaa
     3061 caggactcaa gctgtttgcc tagaacctca caattaaatg actcttctga aatggatccc
     3121 tcaacacaga tttctttaaa tagaagagca gtagaatggg acaccacggg acagaatctt
     3181 attaagaaag tgagaaatct tcgccagaga ctcactgccc gggctcgtca cagatgtcaa
     3241 acccctcatc ttttggctgc atagaatgca tgtcaccttg agacggtcga gagagagacc
     3301 tattttgcaa tcagtgacat tgatttttag attatttatt taaaattcct ataaagatca
     3361 gccctttgta cagaaaaatg tgtctataaa aattatgtgt tatttaattc tgatactttt
     3421 tggcttgtaa atggcttctt gaacttttta caataaaaat gttttagaaa ctgttaaa
//
