LOCUS       NM_153356               1270 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens TBC1 domain family member 21 (TBC1D21), transcript
            variant 1, mRNA.
ACCESSION   NM_153356
VERSION     NM_153356.3
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 1270)
  AUTHORS   Wang,Y.Y., Ke,C.C., Chen,Y.L., Lin,Y.H., Yu,I.S., Ku,W.C.,
            O'Bryan,M.K. and Lin,Y.H.
  TITLE     Deficiency of the Tbc1d21 gene causes male infertility with
            morphological abnormalities of the sperm mitochondria and flagellum
            in mice
  JOURNAL   PLoS Genet 16 (9), e1009020 (2020)
   PUBMED   32976492
  REMARK    GeneRIF: Deficiency of the Tbc1d21 gene causes male infertility
            with morphological abnormalities of the sperm mitochondria and
            flagellum in mice.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1270)
  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   3  (bases 1 to 1270)
  AUTHORS   Lin,Y.H., Ke,C.C., Wang,Y.Y., Chen,M.F., Chen,T.M., Ku,W.C.,
            Chiang,H.S. and Yeh,C.H.
  TITLE     RAB10 Interacts with the Male Germ Cell-Specific GTPase-Activating
            Protein during Mammalian Spermiogenesis
  JOURNAL   Int J Mol Sci 18 (1), 97 (2017)
   PUBMED   28067790
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1270)
  AUTHORS   Nakano,M., Ikeda,Y., Tokuda,Y., Fuwa,M., Ueno,M., Imai,K., Sato,R.,
            Omi,N., Adachi,H., Kageyama,M., Mori,K., Kinoshita,S. and
            Tashiro,K.
  TITLE     Novel common variants and susceptible haplotype for exfoliation
            glaucoma specific to Asian population
  JOURNAL   Sci Rep 4, 5340 (2014)
   PUBMED   24938310
  REMARK    GeneRIF: Data indicate that single-nucleotide polymorphisms (SNPs)
            distributing in not only lysyl oxidase-like 1 gene (LOXL1) but also
            TBC1 domain family member 21 protein (TBC1D21) and promyelocytic
            leukemia protein (PML).
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1270)
  AUTHORS   Lin,Y.H., Lin,Y.M., Kuo,Y.C., Wang,Y.Y. and Kuo,P.L.
  TITLE     Identification and characterization of a novel Rab
            GTPase-activating protein in spermatids
  JOURNAL   Int J Androl 34 (5 Pt 2), e358-e367 (2011)
   PUBMED   21128978
  REMARK    GeneRIF: MgcRabGAP is involved in acrosome/acroplaxome formation
            and cytoskeletal reorganization via Rab activity during mammalian
            spermiogenesis
REFERENCE   6  (bases 1 to 1270)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (bases 1 to 1270)
  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 1270)
  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 1270)
  AUTHORS   Itoh,T., Satoh,M., Kanno,E. and Fukuda,M.
  TITLE     Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16)
            domain-containing proteins based on their Rab-binding activity
  JOURNAL   Genes Cells 11 (9), 1023-1037 (2006)
   PUBMED   16923123
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018943.10, HY018107.1, BC033516.1 and AB449907.1.
            
            On Nov 22, 2018 this sequence version replaced NM_153356.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.354487.1,
                                           SRR5189667.124064.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300504.7/ ENSP00000300504.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                AC018943.10        13789-13810         c
            23-63               HY018107.1         2-42
            64-590              BC033516.1         1-527
            591-591             AB449907.1         337-337
            592-1270            BC033516.1         529-1207
FEATURES             Location/Qualifiers
     source          1..1270
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..1270
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /note="TBC1 domain family member 21"
                     /db_xref="GeneID:161514"
                     /db_xref="HGNC:HGNC:28536"
                     /db_xref="MIM:620387"
     exon            1..206
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             147..1157
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /note="isoform 1 is encoded by transcript variant 1; male
                     germ cell-specific expressed, containing a RabGAP domain;
                     male germ cell Rab GTPase-activating protein"
                     /codon_start=1
                     /product="TBC1 domain family member 21 isoform 1"
                     /protein_id="NP_699187.1"
                     /db_xref="CCDS:CCDS10252.1"
                     /db_xref="GeneID:161514"
                     /db_xref="HGNC:HGNC:28536"
                     /db_xref="MIM:620387"
                     /translation="MTTLSPENSLSARQSASFILVKRKPPIDKTEWDSFFDESGHLAK
                     SRDFICVNILERGLHPFVRTEAWKFLTGYFSWQSSQDERLTVDSMRRKNYKALCQMYE
                     KIQPLLENLHRNFTETRNNIARDIQKIYDKDPLGNVLIDKKRLEKILLLSYVCNTQAE
                     YQQGFHEMMMLFQLMVEHDHETFWLFQFFLQKTEHSCVINIGVAKNLDMLSTLITFLD
                     PVFAEHLKGKGAGAVQSLFPWFCFCFQRAFKSFDDVWRLWEVLLTGKPCRNFQVLVAY
                     SMLQMVREQVLQESMGGDDILLACNNLIDLDADELISAACVVYAELIQKDVPQTLKDF
                     FL"
     exon            207..314
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     exon            315..418
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     exon            419..513
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     exon            514..624
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     exon            625..725
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     exon            726..822
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     exon            823..923
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1040
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1124
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1270
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1249..1254
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /note="hexamer: TATAAA"
     polyA_site      1270
                     /gene="TBC1D21"
                     /gene_synonym="MgcRabGAP"
                     /note="major polyA site"
ORIGIN      
        1 acactgctgg ccggctctgt tcaagtgtgg gaggtcagga gcagccagtt cctcctggga
       61 atgcaaccca tctccgaaaa ggattaagca tcactagggc tccaagtgag ttctgatcag
      121 aggctgttcg gaagacagca ggggccatga ccaccctctc tcctgaaaac agcctctctg
      181 ccagacagtc agcctccttc atcctggtga agagaaaacc acccattgac aagacagaat
      241 gggacagctt ctttgatgag agtggccact tggccaaatc acgggacttc atttgtgtta
      301 acatcctgga aaggggtctg caccccttcg tgaggactga agcctggaaa ttcctcacgg
      361 gctacttctc atggcagagt tcccaggatg agcggctcac ggtggacagc atgaggagga
      421 agaactacaa ggccttatgc caaatgtatg agaagattca gccccttctg gaaaacctgc
      481 accggaactt cacagagact cgcaataaca ttgcacgtga cattcagaaa atctatgaca
      541 aagatcccct gggcaacgtc ctcatcgaca agaagaggct agagaagatc ctgctcctga
      601 gttacgtctg caacacgcag gcagagtacc agcagggctt ccatgagatg atgatgctct
      661 tccagctgat ggtggagcac gaccacgaga ccttctggct tttccagttc ttcctgcaga
      721 aaacggaaca cagctgtgtc atcaacattg gcgtggccaa gaacctagac atgctcagca
      781 ccctgatcac cttcctggac cccgtgtttg ctgagcacct aaaagggaag ggtgcagggg
      841 ctgtgcagtc cctcttcccc tggttctgct tctgcttcca gcgtgccttc aagtccttcg
      901 atgatgtctg gaggctctgg gaggttctgc tgacggggaa gccctgcagg aacttccagg
      961 tgctggtggc ctacagcatg ctgcagatgg tgcgggagca ggtgctgcag gaaagcatgg
     1021 gcggggatga catcctcctg gcctgcaaca acctcatcga ccttgatgct gatgagctga
     1081 tctctgccgc ctgcgtggtt tatgctgagc tcatccagaa ggatgttcct cagacattaa
     1141 aggatttctt cctctgagga caccaaagcc cgcagtggac tgatgccttc gatgggcagg
     1201 atgaaggcca ggggcactgg agtgagggag tagataaaac agctgcaata taaacagtcc
     1261 tctggaataa
//
