LOCUS       NM_018138               2700 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant
            2, mRNA.
ACCESSION   NM_018138
VERSION     NM_018138.5
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 2700)
  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 2700)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 2700)
  AUTHORS   Goncalves,J., Nolasco,S., Nascimento,R., Lopez Fanarraga,M.,
            Zabala,J.C. and Soares,H.
  TITLE     TBCCD1, a new centrosomal protein, is required for centrosome and
            Golgi apparatus positioning
  JOURNAL   EMBO Rep 11 (3), 194-200 (2010)
   PUBMED   20168327
REFERENCE   4  (bases 1 to 2700)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC025748.1, AK124362.1, CA428099.1 and AC068631.16.
            
            On Nov 22, 2018 this sequence version replaced NM_018138.4.
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Both variants 1 and 2 encode the same
            isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.111465.1,
                                           SRR1660809.71400.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338733.10/ ENSP00000341652.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1936              BC025748.1         2-1937
            1937-2340           AK124362.1         1697-2100
            2341-2692           CA428099.1         25-376              c
            2693-2693           AC068631.16        115498-115498
            2694-2700           CA428099.1         17-23               c
FEATURES             Location/Qualifiers
     source          1..2700
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.3"
     gene            1..2700
                     /gene="TBCCD1"
                     /note="TBCC domain containing 1"
                     /db_xref="GeneID:55171"
                     /db_xref="HGNC:HGNC:25546"
                     /db_xref="MIM:619848"
     exon            1..73
                     /gene="TBCCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            74..452
                     /gene="TBCCD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..1790
                     /gene="TBCCD1"
                     /note="isoform a is encoded by transcript variant 2; TBCC
                     domain-containing protein 1"
                     /codon_start=1
                     /product="TBCC domain-containing protein 1 isoform a"
                     /protein_id="NP_060608.1"
                     /db_xref="CCDS:CCDS3276.1"
                     /db_xref="GeneID:55171"
                     /db_xref="HGNC:HGNC:25546"
                     /db_xref="MIM:619848"
                     /translation="MDQSRVLLWVKAEPFIVGALQVPPPSKFSLHYLRKISTYVQIRA
                     TEGAYPRLYWSTWRHIACGKLQLAKDLAWLYFEIFDSLSMKTPEERLEWSEVLSNCMS
                     EEEVEKQRNQLSVDTLQFLLFLYIQQLNKVSLRTSLIGEEWPSPRNKSQSPDLTEKSN
                     CHNKNWNDYSHQAFVYDHLSDLLELLLDPKQLTASFHSTHSSLVSREAVVALSFLIEG
                     TISRARKIYPLHELALWQPLHADSGFSKISKTFSFYKLETWLRSCLTGNPFGTSACLK
                     SGKKLAWAHQVEGTTKRAKIACNTHVAPRMHRLVVMSQVYKQTLAKSSDTLAGAHVKI
                     HRCNESFIYLLSPLRSVTIEKCRNSIFVLGPVGTTLHLHSCDNVKVIAVCHRLSISST
                     TGCIFHVLTPTRPLILSGNQTVTFAPFHTHYPMLEDHMARTGLATVPNYWDNPMVVCR
                     ENSDTRVFQLLPPCEFYVFIIPFEMEGDTTEIPGGLPSVYQKALGQREQKIQIWQKTV
                     KEAHLTKDQRKQFQVLVENKFYEWLINTGHRQQLDSLVPPAAGSKQAAG"
     exon            453..608
                     /gene="TBCCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            609..975
                     /gene="TBCCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1162
                     /gene="TBCCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1660
                     /gene="TBCCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1661..1811
                     /gene="TBCCD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1812..2700
                     /gene="TBCCD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2401..2406
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBCCD1"
                     /note="hexamer: ATTAAA"
     polyA_site      2428
                     /gene="TBCCD1"
                     /note="major polyA site"
     regulatory      2681..2686
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBCCD1"
                     /note="hexamer: AATAAA"
     polyA_site      2700
                     /gene="TBCCD1"
ORIGIN      
        1 gcgggcccag cgagcggacg ccgggcgcgg cggcgcgcgg agaagtgcgg cggagcggcg
       61 cctgcattag caggtatgca aagaagcctt ttcaccctga tgtccttaga gataatatgg
      121 atcagtccag agttctcctc tgggtgaaag cagaaccctt tatagtgggt gccttgcagg
      181 tcccccctcc atccaagttt agtcttcact atctcaggaa gatatccacc tatgtgcaaa
      241 tccgggccac agaaggagct tacccgcgcc tctactggtc tacatggagg cacatcgctt
      301 gtgggaagct gcagttggcc aaggacctgg cgtggcttta cttcgaaata tttgatagtc
      361 tttcaatgaa gacacctgag gagcgcctgg aatggtctga ggttctgtcc aactgcatgt
      421 ctgaggagga agttgaaaag cagagaaatc agctttcagt ggacacgcta cagtttctgc
      481 tcttcttata cattcaacag ttgaacaagg tctccctaag gacatctttg attggcgaag
      541 agtggcccag tcccagaaac aaatctcagt ctcctgacct gactgaaaaa tctaattgtc
      601 ataataagaa ctggaatgat tacagtcacc aagcttttgt ctatgatcat ctgtctgatc
      661 tcctcgagct gcttttagat ccaaaacaac tcactgcatc atttcattca acccatagta
      721 gtctagtgtc tcgagaagct gttgtggcgc tcagcttcct tattgaaggt acaataagta
      781 gagccaggaa gatctatcca cttcatgaac ttgcactgtg gcaaccactg catgcagata
      841 gtggcttctc aaagatctct aagactttct ctttctacaa actggaaacc tggttgaggt
      901 cctgtttgac tgggaatcca tttggtacat cagcttgcct caagtctgga aagaaattgg
      961 cttgggctca tcaagttgaa gggaccacca aaagagctaa gattgcttgt aatactcatg
     1021 tggcccctag gatgcaccga ctggtagtga tgagccaggt ttacaagcag acactggcta
     1081 agagctcaga cactctggcg ggggcacatg taaagattca tcgttgcaac gaatctttta
     1141 tatatctgct ctctccctta cgatctgtga caattgagaa gtgcaggaat agcatctttg
     1201 tcttgggccc tgtagggact acacttcacc tccacagttg tgacaatgtt aaagtcattg
     1261 ctgtttgcca tcgtttgtcc atctcttcta caacaggttg catctttcac gttcttacgc
     1321 ctacacgccc acttattctc tctgggaacc agacagtaac ttttgcccct tttcatacac
     1381 attacccaat gctagaggac catatggcca ggactggcct tgctacagtg cctaactatt
     1441 gggataatcc aatggttgtg tgcagagaga acagcgacac aagagtcttc cagcttttac
     1501 caccttgtga attctatgta tttattattc cctttgaaat ggaaggggac acaacagaga
     1561 tacccggggg tcttccatct gtatatcaga aagcactggg tcaaagagaa cagaagatac
     1621 agatctggca gaaaactgtg aaggaggctc atttgacaaa ggatcaaagg aagcagttcc
     1681 aggtactggt agagaacaag ttttatgaat ggttgattaa tacaggacat cgccaacagc
     1741 tggacagcct tgtaccccct gcagcaggct ccaaacaagc agctggataa ggatcttaca
     1801 tgcagacact gggccctgga aatacaagga taaatggagg atggtgctca tcttgaaact
     1861 tgaaactaaa ttgggaaggt gctattgctg cttaagagac attgggactt ttctgtcttt
     1921 tttttttttt ttttttgagg cagagtcttg ttctgtcgcc caggctggag tgcagtggcg
     1981 cgatctcggc tcactgcaag ctctgcctcc cgggttcacg ccattctcct gcctcagcct
     2041 cctgagtagc tgggactaca ggcgcccgcc accacgcccg gccaattttt tttgtatttt
     2101 tagtagagac ggggtttcac cgtgttagtc aggatggtct cgatttcctg acctcgtgat
     2161 ccgcccatct cggcctccca aagtgctggg attacaggcg tgagccaccg tgcccagcct
     2221 tctgttctat ttaagaactt tgatttccat tccattttca tttattactg tttaggccga
     2281 attttcgcta aacttctgac tttcatataa acatattgct tatagaacat cagaagactc
     2341 gtctttgtga tgcccaaatg aaaaagttgg tgaaggtagt accattgtat gtatgttaat
     2401 attaaagcaa ctgagtgtag atttgcaact atagtgtgta tcttcatttg tgtgatgaaa
     2461 gagttttatt ctttctagag ttaaataaga gttttatagt tctttgtaac tatttaaaag
     2521 gaaattgcta ctccttttaa aaaataattg gaaaggaagt atgatttgtt ggtatataga
     2581 catagaaata gttttatact atattttagt ccttaaagta tggaacttaa tgaaattgtt
     2641 taaaaaaatc tttatttttc acttcctgct tcaaattttc aataaacaaa ctctaaagaa
//
