LOCUS       NM_024196               3384 bp    mRNA    linear   ROD 14-JAN-2025
DEFINITION  Mus musculus TBC1 domain family, member 20 (Tbc1d20), transcript
            variant 1, mRNA.
ACCESSION   NM_024196
VERSION     NM_024196.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3384)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 3384)
  AUTHORS   Cui,L., Gu,Y., Liu,S., Li,M., Ye,J., Zhang,F., Luo,X., Chang,W.L.
            and Gui,Y.
  TITLE     TBC1D20 Is Essential for Mouse Blood-Testis Barrier Integrity
            Through Maintaining the Epithelial Phenotype and Modulating the
            Maturation of Sertoli Cells
  JOURNAL   Reprod Sci 27 (7), 1443-1454 (2020)
   PUBMED   31994000
  REMARK    GeneRIF: TBC1D20 Is Essential for Mouse Blood-Testis Barrier
            Integrity Through Maintaining the Epithelial Phenotype and
            Modulating the Maturation of Sertoli Cells.
REFERENCE   3  (bases 1 to 3384)
  AUTHORS   Chang,W.L., Cui,L., Gu,Y., Li,M., Ma,Q., Zhang,Z., Ye,J., Zhang,F.,
            Yu,J. and Gui,Y.
  TITLE     TBC1D20 deficiency induces Sertoli cell apoptosis by triggering
            irreversible endoplasmic reticulum stress in mice
  JOURNAL   Mol Hum Reprod 25 (12), 773-786 (2019)
   PUBMED   31633178
  REMARK    GeneRIF: It suggested that TBC1D20 deficiency triggers irreversible
            endoplasmic reticulum stress resulting in G1/S arrest and excessive
            apoptosis in TBC1D20-deficient Sertoli cells, and TBC1D20
            deficiency in Sertoli cells may also contribute to the infertility
            phenotype in 'blind sterile' male mice.
REFERENCE   4  (bases 1 to 3384)
  AUTHORS   Sidjanin,D.J., Park,A.K., Ronchetti,A., Martins,J. and Jackson,W.T.
  TITLE     TBC1D20 mediates autophagy as a key regulator of autophagosome
            maturation
  JOURNAL   Autophagy 12 (10), 1759-1775 (2016)
   PUBMED   27487390
  REMARK    GeneRIF: TBC1D20 has an essential role in the maturation of
            autophagosomes.
REFERENCE   5  (bases 1 to 3384)
  AUTHORS   Handley,M.T., Carpanini,S.M., Mali,G.R., Sidjanin,D.J.,
            Aligianis,I.A., Jackson,I.J. and FitzPatrick,D.R.
  TITLE     Warburg Micro syndrome is caused by RAB18 deficiency or
            dysregulation
  JOURNAL   Open Biol 5 (6), 150047 (2015)
   PUBMED   26063829
REFERENCE   6  (bases 1 to 3384)
  AUTHORS   Li,B., Dai,Q., Li,L., Nair,M., Mackay,D.R. and Dai,X.
  TITLE     Ovol2, a mammalian homolog of Drosophila ovo: gene structure,
            chromosomal mapping, and aberrant expression in blind-sterile mice
  JOURNAL   Genomics 80 (3), 319-325 (2002)
   PUBMED   12213202
REFERENCE   7  (bases 1 to 3384)
  AUTHORS   Chow,R.L., Snow,B., Novak,J., Looser,J., Freund,C., Vidgen,D.,
            Ploder,L. and McInnes,R.R.
  TITLE     Vsx1, a rapidly evolving paired-like homeobox gene expressed in
            cone bipolar cells
  JOURNAL   Mech Dev 109 (2), 315-322 (2001)
   PUBMED   11731243
REFERENCE   8  (bases 1 to 3384)
  AUTHORS   Spence,S.E., Gilbert,D.J., Harris,B.S., Davisson,M.T.,
            Copeland,N.G. and Jenkins,N.A.
  TITLE     Genetic localization of Hao-1, blind-sterile (bs), and Emv-13 on
            mouse chromosome 2
  JOURNAL   Genomics 12 (2), 403-404 (1992)
   PUBMED   1310954
REFERENCE   9  (bases 1 to 3384)
  AUTHORS   Sotomayor,R.E. and Handel,M.A.
  TITLE     Failure of acrosome assembly in a male sterile mouse mutant
  JOURNAL   Biol Reprod 34 (1), 171-182 (1986)
   PUBMED   3955134
REFERENCE   10 (bases 1 to 3384)
  AUTHORS   Varnum,D.S.
  TITLE     Blind-sterile: a new mutation on chromosome 2 of the house mouse
  JOURNAL   J Hered 74 (3), 206-207 (1983)
   PUBMED   6863898
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL831735.10.
            
            On Apr 25, 2018 this sequence version replaced NM_024196.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: BC034504.1, AK168985.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-213               AL831735.10        159626-159838
            214-399             AL831735.10        167950-168135
            400-480             AL831735.10        170744-170824
            481-667             AL831735.10        173787-173973
            668-769             AL831735.10        174128-174229
            770-911             AL831735.10        176184-176325
            912-1099            AL831735.10        177115-177302
            1100-3384           AL831735.10        177508-179792
FEATURES             Location/Qualifiers
     source          1..3384
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 74.83 cM"
     gene            1..3384
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /note="TBC1 domain family, member 20"
                     /db_xref="GeneID:67231"
                     /db_xref="MGI:MGI:1914481"
     exon            1..213
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /inference="alignment:Splign:2.1.0"
     CDS             147..1355
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /codon_start=1
                     /product="TBC1 domain family member 20"
                     /protein_id="NP_077158.1"
                     /db_xref="CCDS:CCDS16880.1"
                     /db_xref="GeneID:67231"
                     /db_xref="MGI:MGI:1914481"
                     /translation="MALRPSKGDGSAGRWDRGAGKADFNAKRKKKVAEIHQALNSDPI
                     DLAALRRMAISEGGLLTDEIRCQVWPKLLNVNTSEPPPVSRKDLRDMSKDYQQVLLDV
                     RRSLRRFPPGMPDEQREGLQEELIDIILLVLDRNPQLHYYQGYHDIVVTFLLVVGERL
                     ATSLVEKLSTHHLRDFMDPTMDNTKHILNYLMPIIDQVSPELHDFMQSAEVGTIFALS
                     WLITWFGHVLMDFRHVVRLYDFFLACHPLMPIYFAAVIVLYREQEVLDCDCDMASVHH
                     LLSQIPQDLPYETLISRAGDLFVQFPPSELAREAAAQQEAERTAASTFKDFELASTQQ
                     RPDMVLRQRFRGLLRPEARTKDVLTKPRTNRFVKLAVMGLTVALGAAALAVVKSALEW
                     APKFQLQLFP"
     exon            214..399
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /inference="alignment:Splign:2.1.0"
     exon            400..480
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /inference="alignment:Splign:2.1.0"
     exon            481..667
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /inference="alignment:Splign:2.1.0"
     exon            668..769
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /inference="alignment:Splign:2.1.0"
     exon            770..911
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /inference="alignment:Splign:2.1.0"
     exon            912..1099
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..3384
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3359..3364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /note="hexamer: AATAAA"
     polyA_site      3384
                     /gene="Tbc1d20"
                     /gene_synonym="1110028I04Rik; 2810442O16Rik; bs"
                     /note="major polyA site"
ORIGIN      
        1 gggggcgtgg ctgtctgcgc gcctgcgcgc cgcaggccga cggagtctat cctgccccgg
       61 ccgaactggg gttaggtccg tggtgggagc cgctcctcag gctccgccgc cagccggggc
      121 tcgggctggg gcccgggccc ccggagatgg ccctccggcc ctcaaagggc gacggctccg
      181 ccggccgctg ggaccgcggc gcagggaagg cagactttaa tgccaaaagg aaaaagaagg
      241 tggcagagat acaccaggct ctgaacagtg atcccatcga cttggctgcc ctccgacgaa
      301 tggctatcag tgagggaggg ctcctgactg atgagatcag gtgccaagta tggcctaagc
      361 tcctcaacgt gaacaccagt gagccaccgc ctgtgtcaag gaaggacctt cgagacatga
      421 gcaaggacta ccagcaagtg ctgctggacg tcaggcgatc tcttcggcgc ttcccccctg
      481 gcatgccgga cgagcagaga gaagggctcc aggaagagct aatcgatatc atcctcctcg
      541 tcctggatcg caaccctcag ctccactact accagggcta ccatgacatc gtggtcacat
      601 ttctgctggt ggtgggggag aggctggcaa catccctggt agaaaaattg tctacccacc
      661 acctcaggga tttcatggat cccacaatgg acaacaccaa gcacatccta aattatctga
      721 tgcccatcat tgaccaagtg agcccagagc tccacgactt catgcagagt gctgaggtgg
      781 ggaccatctt tgccctcagc tggcttatca cctggtttgg gcacgtcctg atggacttca
      841 ggcacgttgt gaggttatac gacttcttcc tggcctgcca cccacttatg cccatttact
      901 ttgcagctgt gatcgtgctg taccgggagc aggaagtcct ggactgtgac tgtgacatgg
      961 cctctgtcca ccacctgttg tcccagatcc ctcaggacct gccctatgag acgctcatca
     1021 gcagagcagg agacctcttt gttcagtttc ccccttctga acttgcaagg gaggcagctg
     1081 ctcagcagga ggctgagaga acggcagcct ctactttcaa agactttgag ctggcatcaa
     1141 ctcagcagag gccagacatg gtgctgcggc agcggtttcg gggacttctg aggcctgagg
     1201 ctcgaacaaa agatgtcctg accaaaccaa ggaccaaccg ctttgtgaaa ctggcagtga
     1261 tggggctgac ggtggccctc ggagcagcag cactagcagt ggtgaagagc gccctggagt
     1321 gggcccctaa gttccagctg cagctgttcc cctaaactca gctcaagcag ctactccctc
     1381 acccagggca ccaagctctc cccatttcca gaaggagggt aaagttgctg tgattaaagg
     1441 gtttctgtca ggggtgttct gtctgccacc cttggcagct tgttttttgg ctttgatggc
     1501 tggtggcaga gctgcctgac actggcttgc cggacccgag tgctctctgc acctctcctg
     1561 ttgaaaagtg gctctggagc acctggttac ccaagtcact gcctaaaaag ttgggcccag
     1621 agatgccctc cttatagcac catgtgtctt gagtatcttt agacaaagca ggcaggatgg
     1681 tccagccttg ggatgaaagt gaggggagaa aacattagcc tgggagccag ctggaccctc
     1741 ttaaaagcgg ccatattagc tggtcagaat cagagataga ctcaagctgg gttctaatta
     1801 aatttttatg atcccagcct agagctcatg tgcagaggaa tgttaatcac caggatgatg
     1861 ttgcccgtgt ctccctgttc tttctcctct acaagccaca tgacaaaacc tacaaagaca
     1921 tttttaatac tgtttttatg attgtatact acacctaaca tagcaagtag tcttcacttt
     1981 aaaaaaaaaa attacttatg tgtgtgtaca ggtgcccaca gaggccatag gtgggcttca
     2041 ggtttcctgg agcctgtgtg ggtgctggga tctgaatgcc aggcctctgg tgaagcagca
     2101 gtaagtgctc ttaactgctg agccatttct ccagcctctt tcatagttcc ttcatgagag
     2161 aagctgtcag agcattgagt ttctactggg ctaagttatc ccttttttgg aggggaatag
     2221 aacccagggc cttgcacatg gaagcaaaag tgttctacca ctgcgctgcc ccagctttgg
     2281 tttttttcgt ttttgtcttt ttccattttt agttttgaga tagggtctac ctaaattatc
     2341 caggctggcc ttgaactttt gatcctcctg ccatggctcc caattatcct ggatgacagg
     2401 attgcacctg agatactctc cctgctcagt ttagccaaag ttgtttgtga acactcccag
     2461 accccacggt gccacttcct gactcgcttt ccttattttc ctcttcttac ccaccttggc
     2521 ctgtctttgt gtcgatctct tccgctgctg gtctcaggct gggaatgtcc ttggaaactt
     2581 gccagcacgt agacagggtt tggcaggaac cgcacaccac cagcctcact gtacctgggc
     2641 tcctccagga gaggtgtaca ggatccatgg gatcacttgg tcttcctagg atggctttgt
     2701 taaaagtgaa gccagctgtg ttttatagca cctggcttga aaacaaaagt gcctttcgct
     2761 gctttagggt gtgtagtggg aagctcgttt ccttctttcc tgggcactct tctccagtcc
     2821 tgccatgtcc acaccccaca tgtcccctgc ccatcccctt gtctcctgtg cccattgtat
     2881 gcagtgggac actctgcatg ctgggcagcc atgaagccag agtctatagg aggtgtcctg
     2941 gcagagttac ataaagcact ttaagtcaag ccggagtggt aggtaagtcc tctgcacagg
     3001 agccttgcct tgggtgagtg attcactggg atcattcagg acaaaggaga agtttccagg
     3061 acccagagtg atgaggtgac aaatactatt gggtctaccc cggagcttat catctatcct
     3121 ctagcctgct tgaagactgt aggaggcttg ctggctgagg gaagggcatg agctcagggt
     3181 ccaagccact gttctgcatc caagcaagca ggtggcactg gcttgtgagg agctgaagag
     3241 tggtctgtgc ccataacagg actcccctgc cactgagaag aaagcattgt caatttacct
     3301 tcaggtattt actctgtaaa aaatatgtgt agatgttttg tacagagccc tgtatgaaaa
     3361 taaacaccct tatgtgattc ctaa
//
