LOCUS       NM_144628               4446 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens TBC1 domain family member 20 (TBC1D20), transcript
            variant 1, mRNA.
ACCESSION   NM_144628
VERSION     NM_144628.4
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 4446)
  AUTHORS   Abdel-Hamid,M.S., Abdel-Ghafar,S.F., Ismail,S.R., Desouky,L.M.,
            Issa,M.Y., Effat,L.K. and Zaki,M.S.
  TITLE     Micro and Martsolf syndromes in 34 new patients: Refining the
            phenotypic spectrum and further molecular insights
  JOURNAL   Clin Genet 98 (5), 445-456 (2020)
   PUBMED   32740904
  REMARK    GeneRIF: Micro and Martsolf syndromes in 34 new patients: Refining
            the phenotypic spectrum and further molecular insights.
            Review article
REFERENCE   2  (bases 1 to 4446)
  AUTHORS   Hozhabri,H., Talebi,M., Mehrjardi,M.Y.V., De Luca,A. and
            Dehghani,M.
  TITLE     Martsolf syndrome with novel mutation in the TBC1D20 gene in a
            family from Iran
  JOURNAL   Am J Med Genet A 182 (5), 957-961 (2020)
   PUBMED   32162791
  REMARK    GeneRIF: Martsolf syndrome with novel mutation in the TBC1D20 gene
            in a family from Iran.
REFERENCE   3  (bases 1 to 4446)
  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   4  (bases 1 to 4446)
  AUTHORS   Liegel,R.P., Handley,M.T., Ronchetti,A., Brown,S., Langemeyer,L.,
            Linford,A., Chang,B., Morris-Rosendahl,D.J., Carpanini,S.,
            Posmyk,R., Harthill,V., Sheridan,E., Abdel-Salam,G.M., Terhal,P.A.,
            Faravelli,F., Accorsi,P., Giordano,L., Pinelli,L., Hartmann,B.,
            Ebert,A.D., Barr,F.A., Aligianis,I.A. and Sidjanin,D.J.
  TITLE     Loss-of-function mutations in TBC1D20 cause cataracts and male
            infertility in blind sterile mice and Warburg micro syndrome in
            humans
  JOURNAL   Am J Hum Genet 93 (6), 1001-1014 (2013)
   PUBMED   24239381
  REMARK    GeneRIF: Loss-of-function mutations in TBC1D20 cause cataracts and
            male infertility in blind sterile mice and Warburg micro syndrome
            in humans.
REFERENCE   5  (bases 1 to 4446)
  AUTHORS   Nevo-Yassaf,I., Yaffe,Y., Asher,M., Ravid,O., Eizenberg,S.,
            Henis,Y.I., Nahmias,Y., Hirschberg,K. and Sklan,E.H.
  TITLE     Role for TBC1D20 and Rab1 in hepatitis C virus replication via
            interaction with lipid droplet-bound nonstructural protein 5A
  JOURNAL   J Virol 86 (12), 6491-6502 (2012)
   PUBMED   22491470
  REMARK    GeneRIF: The NS5A interaction with TBC1D20 and Rab1 is essential
            for the viral life cycle.
REFERENCE   6  (bases 1 to 4446)
  AUTHORS   Sklan,E.H., Serrano,R.L., Einav,S., Pfeffer,S.R., Lambright,D.G.
            and Glenn,J.S.
  TITLE     TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis
            C virus replication
  JOURNAL   J Biol Chem 282 (50), 36354-36361 (2007)
   PUBMED   17901050
  REMARK    GeneRIF: TBC1D20 was found to be the first known GAP for Rab1,
            which is implicated in the regulation of anterograde traffic
            between the endoplasmic reticulum and the Golgi complex
REFERENCE   7  (bases 1 to 4446)
  AUTHORS   Haas,A.K., Yoshimura,S., Stephens,D.J., Preisinger,C., Fuchs,E. and
            Barr,F.A.
  TITLE     Analysis of GTPase-activating proteins: Rab1 and Rab43 are key Rabs
            required to maintain a functional Golgi complex in human cells
  JOURNAL   J Cell Sci 120 (Pt 17), 2997-3010 (2007)
   PUBMED   17684057
REFERENCE   8  (bases 1 to 4446)
  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 4446)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   10 (bases 1 to 4446)
  AUTHORS   Handley,M. and Sheridan,E.
  TITLE     RAB18 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29300443
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA238706.1, AK291648.1,
            BC047616.1, AL121747.41, AF116909.1 and BM984598.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_144628.3.
            
            Summary: This gene encodes a protein that belongs to a family of
            GTPase activator proteins of Rab-like small GTPases. The encoded
            protein and its cognate GTPase, Rab1, bind the nonstructural
            protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral
            replication. Depletion of this protein inhibits replication of the
            virus and HCV infection. Mutations in this gene are associated with
            Warburg micro syndrome 4. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            
            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.
            
            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 :: AK127062.1, SRR14038193.847479.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354200.5/ ENSP00000346139.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DA238706.1         21-37
            18-1375             AK291648.1         1-1358
            1376-1502           BC047616.1         634-760
            1503-2303           AL121747.41        39231-40031         c
            2304-3643           BC047616.1         1562-2901
            3644-4421           AF116909.1         94-871
            4422-4446           BM984598.1         22-46               c
FEATURES             Location/Qualifiers
     source          1..4446
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..4446
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /note="TBC1 domain family member 20"
                     /db_xref="GeneID:128637"
                     /db_xref="HGNC:HGNC:16133"
                     /db_xref="MIM:611663"
     exon            1..198
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..1340
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /codon_start=1
                     /product="TBC1 domain family member 20"
                     /protein_id="NP_653229.1"
                     /db_xref="CCDS:CCDS13002.1"
                     /db_xref="GeneID:128637"
                     /db_xref="HGNC:HGNC:16133"
                     /db_xref="MIM:611663"
                     /translation="MALRSAQGDGPTSGHWDGGAEKADFNAKRKKKVAEIHQALNSDP
                     TDVAALRRMAISEGGLLTDEIRRKVWPKLLNVNANDPPPISGKNLRQMSKDYQQVLLD
                     VRRSLRRFPPGMPEEQREGLQEELIDIILLILERNPQLHYYQGYHDIVVTFLLVVGER
                     LATSLVEKLSTHHLRDFMDPTMDNTKHILNYLMPIIDQVNPELHDFMQSAEVGTIFAL
                     SWLITWFGHVLSDFRHVVRLYDFFLACHPLMPIYFAAVIVLYREQEVLDCDCDMASVH
                     HLLSQIPQDLPYETLISRAGDLFVQFPPSELAREAAAQQQAERTAASTFKDFELASAQ
                     QRPDMVLRQRFRGLLRPEDRTKDVLTKPRTNRFVKLAVMGLTVALGAAALAVVKSALE
                     WAPKFQLQLFP"
     exon            199..384
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /inference="alignment:Splign:2.1.0"
     exon            385..465
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /inference="alignment:Splign:2.1.0"
     exon            466..652
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /inference="alignment:Splign:2.1.0"
     exon            653..754
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /inference="alignment:Splign:2.1.0"
     exon            755..896
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1084
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..4446
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3618..3623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /note="hexamer: AATAAA"
     polyA_site      3643
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /note="major polyA site"
     regulatory      4428..4433
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /note="hexamer: AATAAA"
     polyA_site      4446
                     /gene="TBC1D20"
                     /gene_synonym="C20orf140; WARBM4"
                     /note="major polyA site"
ORIGIN      
        1 gcgcgccgct ggccgacgga ggggagcctg ccgatgccga gcgggtgcta cgtcccgcgg
       61 tcggagccgc gtcttctccc ggctccgcca ccagccgggg ctcgggtggg ggcccggggc
      121 cccggggcat ggccctccgg agtgcgcagg gcgacggccc cacctccggc cactgggacg
      181 gcggcgcgga gaaggcagac tttaacgcca aaaggaaaaa gaaagtggca gagatacacc
      241 aggctctgaa cagtgatccc actgatgtgg ctgcccttag acgcatggct atcagtgaag
      301 gagggctcct gactgatgag atcagacgaa aagtgtggcc caagctcctc aatgtcaatg
      361 ccaatgaccc acctcctata tcagggaaga acctacggca gatgagcaag gactaccaac
      421 aagtgttgct ggacgtccgg cggtcattgc ggcggttccc tcctggcatg ccagaggaac
      481 agagagaagg gctccaggaa gaactgattg acatcatcct cctcatcttg gagcgcaacc
      541 ctcagctgca ctactaccag ggctaccatg acattgtggt cacatttctg ctggtggtag
      601 gcgagaggct ggcaacatcc ctggtagaaa aattatctac ccaccacctc agggatttta
      661 tggatccaac aatggacaac accaagcata tattaaacta tctgatgccc atcattgacc
      721 aggtgaatcc agagctccat gacttcatgc agagtgctga ggtagggacc atctttgccc
      781 tcagctggct catcacctgg tttgggcatg tcctgtctga cttcaggcac gtcgtgcggt
      841 tatatgactt cttcctggcc tgccacccac tgatgccgat ttactttgca gccgtgattg
      901 tgttgtatcg cgagcaggaa gtcctggact gtgactgtga catggcctcg gtccaccacc
      961 tgttgtccca gatccctcag gacttgccct atgagacact gatcagcaga gcaggagacc
     1021 tttttgttca gtttccccca tccgaacttg ctcgggaggc cgctgcccaa cagcaagctg
     1081 agaggacggc agcctctact ttcaaagact ttgagctggc atcagcccag cagaggcctg
     1141 atatggtgct gcggcagcgg tttcggggac ttctgcggcc tgaagatcga acaaaagatg
     1201 tcctgaccaa gccaaggacc aaccgctttg tgaaattggc agtgatgggg ctgacagtgg
     1261 cacttggagc ggctgcactg gctgtggtga aaagtgccct ggaatgggcc cctaagtttc
     1321 agctgcagct gtttccctga aagccagaga agaccttcct cttacatcac attaaggtct
     1381 cacccttcca tggaaggatt gggaggggtg gaatttcctt tattaaaagg gtttctgtcc
     1441 agagtttttt attcctgcca ccctgccctg cccgtttgtg tttgccttta cttcagaggc
     1501 cagtagcaga gcctacctga cacagagggg acctgggggc ctggcacaga atcttatgcc
     1561 tctcccagtg ggcttttgga tgggctctct gccacctccc tggtgttgga ggaagtgggt
     1621 ttctgaagct tgcagctgct tttgcaacct gctgggcctg ggctgcccta gttaccggga
     1681 acctcctagt caccccatag aaggtgaact ggaacatggg atgccctctt actgctcctg
     1741 cttgcctgca tcagatggac acagaaggag ggggctgctg ctgaaggagt caggcttggg
     1801 atggagagca agaggccaaa ggactcgtct gggagcatga tcggcccctc ttactagcag
     1861 ctccatcagc tgatcagaaa tcagagacag aagggaacta ggttactcgt taaatcctac
     1921 ctattttcag cctagaaatc acatgggcgt ttccagtcaa gtgggaagga agctcatttt
     1981 tagggcctag acctagacta gttttgcctg cctttttttc ctccctgctt tcttctacaa
     2041 gccacacaac attgcttata aaaggtactt ttattactat ttttagaata tatacacccc
     2101 atatgtaaat taccctcact tttaaagtaa taatagttcc ttcacggaaa aaaaaatagt
     2161 tctcatcaga aggatgagct tctaagatcc tgaattttac tttctacttg attaacattt
     2221 tcgctttagc cagagttgct atttgcaaac agctttccac ttccaaagtg ccactttctg
     2281 accggttttt cttcctgttt tcctcaaatc atcctactcc caaataggca cccactcact
     2341 accttggcgt cgttttttgg gtctgacttg actcgtcaac tgctggtctc tcccacctgg
     2401 ttggaaatgt cgttggaaac ttgcaaagac tctccagacc ttagggaaca agaggcatca
     2461 ctcagtcctt ctgggacagc ttccctgtaa gcaaagccag gtttgtttta gattcactct
     2521 ggcctgaaaa aaaaagtgcc ttttgctgct ttaaagaatt ggggtatatg gtatgaagca
     2581 gccatgtact tgtattttcc tggtctttcc tgggcactct tctctcttgg cagatgtttt
     2641 cttaaagtga acacaccaga agcactctac cccaccatat ccagtcctct ttgcatgcct
     2701 gttgtgtgca gggtggaggg tgtcccacgt gccagagcag ctgggagccc tgtccgctga
     2761 gttacactaa gcactttatt tttatttatt ttattattat tttctttttt ctgagatgga
     2821 gtctcactct gttgcccagg ctggagtgca gtggtgcagt ctcagctcac tgcaacctcc
     2881 gcctcccaag ttcaggcaat tctcgctgcc tcagcctccc gagtagctgg gactacaggc
     2941 acctgctacc acgcctgact aatttttgta tttttagtag agatggggtt tcgccacgtt
     3001 ggccaggctg gtctcgaact cctgacctca ggtgatctgc ccgtctcgtc ctcccaaagt
     3061 gctgggatta caggtgtgag ccaccacgcc cagccaccac tacgcacttt aaaaccaaaa
     3121 aaagctcaaa gggatggatc attgtccatg gctcaggagc cccactgtgg ggtaagtgtg
     3181 atgtcgatgg attaatttag acagtggtgt attcatcagg gcaaaggaaa ttcttccaga
     3241 ggtgatgatg cggcagatat tcccagtgct ctcccaaagc aagctggccc tcttgtcatc
     3301 ctctcagtgg gcggcaccag ctgcccctcc ttccacaagt actcaagcct gtttgtaaat
     3361 actgaaggaa ttgatggggt tgaggaaagg aggtgcatgt gaccagggtc ccaaggccac
     3421 agcttttcag atcctaggaa gcaagtggca tttgcttgag ttgtggcctc ggaaggagaa
     3481 tgtttatctg ttttctaact ttgctgacac caggattctc cctgtcattg agaagaaagc
     3541 attatctaat taccttcagg tggtttactt attctgtaaa gaatatgtgt aaatattttg
     3601 tacagagccc tgtatcaaat aaacagccat atgtggttac taatcacctc ttctgtcatt
     3661 ccgtccttgg ccaccgctca gtgggaatgg tctctgatct ggatgctccc accttccatg
     3721 tcaggcccag aactgtgcca tggtctgtgg actcctggtc agccttgact ggctaggaga
     3781 ccttgggcag tacctacagt cttgctgttt ctgtttcatc tgcaagaatt atgacccaca
     3841 cactccagct gcagcccagg gcactgtgat attttatacg tgtgtagatg tttttgtcca
     3901 cagttcctgg ttcatcactc ccataaccct ttgttataat gttgggacac tgcaggcctc
     3961 agaaaacgga atctctgtct gtgaccttct cctgccccat ttcacttgct caacaccaga
     4021 ctttaatctg actgtagctc ataagaccct cattccagag agggtgctgc cccatacccg
     4081 gaaggaggaa cgctgcacag agaggccaag aagcatctgg acagacaggc cttgctgggt
     4141 ttagacctta tgctttttgt ccagtttcat ctcaacacag ctgccatgct tcagccatgc
     4201 ctatccaatg acgtctccat aaaaggccca ggaacacggg agcttctgaa gagctgaaca
     4261 tgtggaggga ggggaacgag aacttgtcca tgtgccaaga gggtggcgca cccccactcc
     4321 atggggacag aagctccagc atttgcccag gacccgtcca gacctcaccc tgtgtgtatc
     4381 ttcatctggc tgtttactta tttgtatcct tttctaataa tgtttgtaat aaactggtaa
     4441 acataa
//
