LOCUS       NM_024113               1650 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens centriolar satellite-associated tubulin
            polyglutamylase complex regulator 1 (CSTPP1), transcript variant 3,
            mRNA.
ACCESSION   NM_024113
VERSION     NM_024113.5
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 1650)
  AUTHORS   Wang,L., Paudyal,S.C., Kang,Y., Owa,M., Liang,F.X., Spektor,A.,
            Knaut,H., Sanchez,I. and Dynlacht,B.D.
  TITLE     Regulators of tubulin polyglutamylation control nuclear shape and
            cilium disassembly by balancing microtubule and actin assembly
  JOURNAL   Cell Res 32 (2), 190-209 (2022)
   PUBMED   34782749
REFERENCE   2  (bases 1 to 1650)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1650)
  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 1650)
  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 1650)
  AUTHORS   He,L., Wu,W.J., Yang,J.K., Cheng,H., Zuo,X.B., Lai,W., Gao,T.W.,
            Ma,C.L., Luo,N., Huang,J.Q., Lu,F.Y., Liu,Y.Q., Huang,Y.J.,
            Lu,Q.J., Zhang,H.L., Wang,L., Wang,W.Z., Wang,M.M., Xiao,S.X.,
            Sun,Q., Li,C.Y., Bai,Y.P., Li,H., Zhou,Z.C., Zhou,F.S., Chen,G.,
            Liang,B., Qi,J., Yang,X.Y., Yang,T., Zheng,X., Sun,L.D., Zhang,X.J.
            and Zhang,Y.P.
  TITLE     Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to
            severe acne
  JOURNAL   Nat Commun 5, 2870 (2014)
   PUBMED   24399259
REFERENCE   6  (bases 1 to 1650)
  AUTHORS   Smith,N.L., Huffman,J.E., Strachan,D.P., Huang,J., Dehghan,A.,
            Trompet,S., Lopez,L.M., Shin,S.Y., Baumert,J., Vitart,V., Bis,J.C.,
            Wild,S.H., Rumley,A., Yang,Q., Uitterlinden,A.G., Stott,D.J.,
            Davies,G., Carter,A.M., Thorand,B., Polasek,O., McKnight,B.,
            Campbell,H., Rudnicka,A.R., Chen,M.H., Buckley,B.M., Harris,S.E.,
            Peters,A., Pulanic,D., Lumley,T., de Craen,A.J., Liewald,D.C.,
            Gieger,C., Campbell,S., Ford,I., Gow,A.J., Luciano,M.,
            Porteous,D.J., Guo,X., Sattar,N., Tenesa,A., Cushman,M.,
            Slagboom,P.E., Visscher,P.M., Spector,T.D., Illig,T., Rudan,I.,
            Bovill,E.G., Wright,A.F., McArdle,W.L., Tofler,G., Hofman,A.,
            Westendorp,R.G., Starr,J.M., Grant,P.J., Karakas,M., Hastie,N.D.,
            Psaty,B.M., Wilson,J.F., Lowe,G.D., O'Donnell,C.J., Witteman,J.C.,
            Jukema,J.W., Deary,I.J., Soranzo,N., Koenig,W. and Hayward,C.
  TITLE     Genetic predictors of fibrin D-dimer levels in healthy adults
  JOURNAL   Circulation 123 (17), 1864-1872 (2011)
   PUBMED   21502573
REFERENCE   7  (bases 1 to 1650)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC001860.2.
            
            On Jun 2, 2019 this sequence version replaced NM_024113.4.
            
            Transcript Variant: This variant (3) has an alternate splice site
            in the 3' coding region, compared to variant 2. The resulting
            isoform (3) lacks an internal segment in the C-terminal region,
            compared to isoform 2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001860.2, AK025863.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278460.12/ ENSP00000278460.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1650              BC001860.2         19-1668
FEATURES             Location/Qualifiers
     source          1..1650
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..1650
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /note="centriolar satellite-associated tubulin
                     polyglutamylase complex regulator 1"
                     /db_xref="GeneID:79096"
                     /db_xref="HGNC:HGNC:28720"
                     /db_xref="MIM:620479"
     exon            1..91
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..1041
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /note="isoform 3 is encoded by transcript variant 3;
                     UPF0705 protein C11orf49; centriolar satellite-associated
                     tubulin polyglutamylation protein 1"
                     /codon_start=1
                     /product="centriolar satellite-associated tubulin
                     polyglutamylase complex regulator 1 isoform 3"
                     /protein_id="NP_077018.1"
                     /db_xref="CCDS:CCDS7925.1"
                     /db_xref="GeneID:79096"
                     /db_xref="HGNC:HGNC:28720"
                     /db_xref="MIM:620479"
                     /translation="MLSPERLALPDYEYLAQRHVLTYMEDAVCQLLENREDISQYGIA
                     RFFTEYFNSVCQGTHILFREFSFVQATPHNRVSFLRAFWRCFRTVGKNGDLLTMKEYH
                     CLLQLLCPDFPLELTQKAARIVLMDDAMDCLMSFSDFLFAFQIQFYYSEFLDSVAAIY
                     EDLLSGKNPNTVIVPTSSSGQHRQRPALGGAGTLEGVEASLFYQCLENLCDRHKYSCP
                     PPALVKEALSNVQRLTFYGFLMALSKHRGINQALGALPDKGDLMHDPAMDEELERLLA
                     QVPGLVNSVTASPEASCLPSRTPPRVGSPWRPLHHSRKVDGESDGSTEETDESET"
     exon            92..194
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            195..325
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            326..410
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            411..496
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            497..692
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            693..802
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            803..866
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1650
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1625..1630
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /note="hexamer: AATAAA"
     polyA_site      1650
                     /gene="CSTPP1"
                     /gene_synonym="C11orf49"
                     /note="major polyA site"
ORIGIN      
        1 ccggaagccg gagagctgga gctttgaagc caccccggtc aaaggatgct gagtccggag
       61 cgcctagccc taccggacta cgagtatctg gctcagcgac atgtcctcac ctacatggag
      121 gatgcagtgt gccagctgct agaaaacagg gaagatatta gccaatatgg aattgccagg
      181 ttcttcactg aatattttaa cagtgtatgc cagggaacac acattctctt tcgagaattc
      241 agcttcgtcc aagccacccc ccacaatagg gtatcatttt tacgggcctt ctggagatgc
      301 ttccgaactg tgggcaaaaa tggcgatttg ctgaccatga aagaatatca ctgtttgctg
      361 caattactgt gtcctgattt cccgctggag ctcactcaga aagcagccag gattgtgctc
      421 atggacgatg ccatggactg cttgatgtct ttttcagatt tcctctttgc cttccagatc
      481 cagttttact actcagaatt cctggacagt gtggctgcca tctatgagga cctgctgtca
      541 ggcaagaacc ccaacacagt gattgtgccg acgtcgtcca gtgggcagca ccgccaacga
      601 cctgccttgg gcggggccgg cacgctggag ggcgtggagg cgtcgctgtt ctaccagtgt
      661 ctggaaaacc tgtgtgatcg gcacaagtac agctgcccac ccccagcact tgtcaaagag
      721 gccctcagca atgttcagag actgaccttc tatggattcc tcatggctct ctcaaagcac
      781 cgtggaatca accaagccct cggagctttg cctgacaagg gggatctgat gcacgaccca
      841 gcaatggatg aagagctgga acggctgctg gcccaggtcc caggcctggt caactcggtc
      901 acagccagtc cagaggccag ttgcctgcct tcccggaccc ctccccgggt tggctctccc
      961 tggagacctc tccatcattc ccgaaaagtg gatggagaga gtgatggctc cactgaagag
     1021 acagacgagt cggagacttg aggagtccaa agggtcctgc ccacagcgcc ctgtacctgc
     1081 tcccacccag cccttggtgt gcccacccag cctcctctcc agcaccttgc tgtgctgccc
     1141 tctgctgctg acaaggtgaa taacagcccc aagaccagcc agaggggctc tgatgatcag
     1201 cccagccagt ggccccggaa ggtgaatggc ctgctctccc tggccctatc agcctgtgaa
     1261 cttcacttag gccccaagct gacagactgt gctgaggcca ccttgtcacg ccgtagcctg
     1321 ttagtcctcc taacctctta agagcagtct cttctgagcc agcctctgcg ggtcccccaa
     1381 taaggttcat ctcctcacag caactccatt aagggggaga acccgaatag ccacgcaggg
     1441 ccttgcacca tcaagggtga cacctgcgac gcaagtacca ggaggacata accgctgtgg
     1501 cctgttggag aacagccagt agccttggta atatgaaggg tgggccagaa gatgatttca
     1561 cttgcaaaaa ctgcttcaag tcttgacccc tttgtgtcta atagctaaac aaacatgtga
     1621 aacgaataaa aagtccctca tgtctggtaa
//
