LOCUS       NM_017691               6176 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript
            variant 2, mRNA.
ACCESSION   NM_017691
VERSION     NM_017691.5
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 6176)
  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 6176)
  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   3  (bases 1 to 6176)
  AUTHORS   De Souza Santos,E., De Bessa,S.A., Netto,M.M. and Nagai,M.A.
  TITLE     Silencing of LRRC49 and THAP10 genes by bidirectional promoter
            hypermethylation is a frequent event in breast cancer
  JOURNAL   Int J Oncol 33 (1), 25-31 (2008)
   PUBMED   18575747
  REMARK    GeneRIF: transcripts of LRRC49/THAP10 bidirectional gene pair are
            co-regulated by estrogen and that hypermethylation of the
            bidirectional promoter region simultaneously silences both genes.
REFERENCE   4  (bases 1 to 6176)
  AUTHORS   Janke,C., Rogowski,K., Wloga,D., Regnard,C., Kajava,A.V.,
            Strub,J.M., Temurak,N., van Dijk,J., Boucher,D., van Dorsselaer,A.,
            Suryavanshi,S., Gaertig,J. and Edde,B.
  TITLE     Tubulin polyglutamylase enzymes are members of the TTL domain
            protein family
  JOURNAL   Science 308 (5729), 1758-1762 (2005)
   PUBMED   15890843
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090868.4, AC084703.7 and AC013752.10.
            
            On Feb 27, 2020 this sequence version replaced NM_017691.4.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1. The
            encoded isoform (2) is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000163.1, BC037982.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260382.10/ ENSP00000260382.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-117               AC090868.4         12994-13110         c
            118-174             AC090868.4         12296-12352         c
            175-262             AC090868.4         10000-10087         c
            263-365             AC090868.4         4912-5014           c
            366-569             AC090868.4         1181-1384           c
            570-636             AC084703.7         80234-80300         c
            637-780             AC084703.7         72639-72782         c
            781-842             AC084703.7         55010-55071         c
            843-990             AC084703.7         27900-28047         c
            991-1074            AC084703.7         11648-11731         c
            1075-1238           AC084703.7         7575-7738           c
            1239-1476           AC013752.10        84209-84446         c
            1477-1662           AC013752.10        82833-83018         c
            1663-1772           AC013752.10        79912-80021         c
            1773-1926           AC013752.10        55493-55646         c
            1927-6176           AC013752.10        39167-43416         c
FEATURES             Location/Qualifiers
     source          1..6176
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..6176
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /note="leucine rich repeat containing 49"
                     /db_xref="GeneID:54839"
                     /db_xref="HGNC:HGNC:25965"
                     /db_xref="MIM:620497"
     exon            1..117
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..2130
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     leucine-rich repeat-containing protein 49; tubulin
                     polyglutamylase complex subunit 4; centriolar
                     satellite-associated tubulin polyglutamylation protein 2;
                     polyglutamylase subunit 4; centriolar satellite-associated
                     tubulin polyglutamylase complex regulator 2"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 49
                     isoform 2"
                     /protein_id="NP_060161.2"
                     /db_xref="CCDS:CCDS32282.1"
                     /db_xref="GeneID:54839"
                     /db_xref="HGNC:HGNC:25965"
                     /db_xref="MIM:620497"
                     /translation="MIPGKYRSVSGRAANNVNCGLHLVIQTSSLPEKNKVEFKLNKDT
                     SSFPGRLLQHDLERNYSSRQGDHINLVSSSLSSFPILQRSSEEKILYSDRLSLERQKL
                     TVCPIINGEDHLRLLNFQHNFITRIQNISNLQKLISLDLYDNQIEEISGLSTLRCLRV
                     LLLGKNRIKKISNLENLKSLDVLDLHGNQITKIENINHLCELRVLNLARNFLSHVDNL
                     NGLDSLTELNLRHNQITFVRDVDNLPCLQHLFLSFNNISSFDSVSCLADSSSLSDITF
                     DGNPIAQESWYKHTVLQNMMQLRQLDMKRITEEERRMASVLAKKEEEKKRESHKQSLL
                     KEKKRLTINNVARQWDLQQQRVANIATNEDRKDSDSPQDPCQIDGSTLSAFPEETGPL
                     DSGLNNALQGLSVIDTYLVEVDGDTLSLYGSGALESLDRNWSVQTAGMITTVSFTFIE
                     FDEIVQVLPKLKIKFPNSLHLKFKETNLVMLQQFNALAQLRRIDQLTIDPQGNPVVNF
                     TLWKYYVLFRLSHFSMQKINGTEVTQNDMIMAERLFGILAHVASSELPQYRLISILGD
                     ARKKQFRYLLESKGKKPGIINEENNDSKRLVGENTNRATLNYTTRDFYNEKLEEIKEK
                     KKFCKTYIEDLVKEATEINMKNEALQKLWPQMFIELVRDAVIEIRNKNSYMKLCLQQI
                     TDQK"
     exon            118..174
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            175..262
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            263..365
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            366..569
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            570..636
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            637..780
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            781..842
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            843..990
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1074
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            1075..1238
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1476
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            1477..1662
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..1772
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            1773..1926
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     exon            1927..6176
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2566..2571
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /note="hexamer: AATAAA"
     regulatory      2592..2597
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /note="hexamer: AATAAA"
     polyA_site      2593
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /note="major polyA site"
     polyA_site      2615
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /note="major polyA site"
     regulatory      6150..6155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
                     /note="hexamer: AATAAA"
     polyA_site      6176
                     /gene="LRRC49"
                     /gene_synonym="CSTPP2; PGs4"
ORIGIN      
        1 ctctttgaat ctccgctgta gcgtcacctg gaaggcagat ctaacagaga acctggactg
       61 tctcctatca tgattcccgg gaaatatcgc tctgtttctg gccgggctgc gaacaacgtg
      121 aactgcgggc ttcatctggt tattcaaaca tcatcgcttc ctgaaaaaaa caaagttgaa
      181 ttcaagctaa ataaagacac atcgtcattc cccggtagac ttttacaaca tgaccttgaa
      241 agaaactact caagtaggca aggtgatcat attaatttgg tgagctcatc attgtcatca
      301 tttcctattc ttcaacgttc ttctgaagag aaaattcttt actcagacag gttgagccta
      361 gaaagacaaa agctgaccgt atgtcctatc atcaatgggg aagaccacct tcgtttgttg
      421 aactttcaac acaattttat aactcggata caaaatattt ctaatctaca gaagttaata
      481 tcgttggatt tatatgataa ccagattgaa gaaattagtg ggctttcgac tctgagatgt
      541 cttcgtgtcc ttctgttggg gaaaaacaga atcaagaaaa tctcaaatct ggagaatcta
      601 aaaagcttag atgtcttgga tcttcatgga aatcagatta ccaaaattga aaatattaat
      661 catttgtgtg agttgagagt tttaaatctt gccaggaact ttttaagtca tgttgataat
      721 cttaatgggc tggattcact aactgaactt aacttgcgac acaatcaaat cactttcgtg
      781 agagatgtgg ataatttgcc ctgcctccaa catctctttc tcagctttaa caatatatct
      841 agttttgaca gtgtttcctg ccttgctgac tcttcttccc tctcggacat cacctttgat
      901 ggcaatccca tagctcaaga gtcatggtac aaacacactg tccttcagaa tatgatgcag
      961 ctgcgccagc tagatatgaa gagaatcacg gaagaagaaa ggcgtatggc atctgtttta
     1021 gccaaaaaag aggaagagaa gaagcgggaa agtcataaac aatctttgct taaggagaag
     1081 aaaaggttaa caattaacaa cgtagctcga cagtgggact tgcaacaaca acgagtagcc
     1141 aatattgcta caaatgaaga tagaaaagat tctgactctc ctcaggaccc ctgtcagatt
     1201 gatggaagca ccctctctgc attcccagag gaaacagggc ctctagactc aggactcaac
     1261 aatgctttac aaggtttatc tgtcatagac acataccttg ttgaagtgga cggggataca
     1321 ctttccctat atggctcagg agcactggaa tctctggata ggaattggag tgttcaaaca
     1381 gcaggaatga tcacaacagt ctccttcact ttcatagaat ttgatgaaat cgtccaagtg
     1441 cttcctaaac tgaagattaa gtttcctaat tctctgcacc ttaaattcaa ggaaacaaat
     1501 cttgtaatgc tgcagcaatt taacgcacta gcccaactcc gtcgtattga ccagttgaca
     1561 attgatcctc aaggaaatcc agttgtcaat tttacactct ggaaatacta tgtactgttt
     1621 aggctaagcc atttcagtat gcagaaaata aatggaacag aggtgacaca gaatgatatg
     1681 ataatggctg aaaggctctt tggaatccta gcacatgtag catcttctga gttaccccag
     1741 tatcgtctga tttccattct gggtgatgcc aggaaaaagc aatttcggta tctactagaa
     1801 tccaaaggaa aaaaacctgg tattatcaac gaagaaaata atgacagcaa aagacttgta
     1861 ggagaaaaca caaatcgtgc tacattaaat tatactacaa gagactttta taatgaaaag
     1921 ctagaggaaa taaaggaaaa gaagaaattc tgtaaaacat atatagaaga ccttgtgaag
     1981 gaagccacag aaatcaacat gaaaaatgag gctttgcaga agctttggcc acagatgttc
     2041 attgagcttg ttagggatgc agtcatagaa attcgcaata aaaattccta tatgaagctc
     2101 tgcctacagc agataacaga ccaaaaataa aaatggcctt tagttacagt tgattttggc
     2161 agttttattt tttgaaggtt gaaaatatgc aggttataca tgttaaaaca acaacaacac
     2221 tatcctataa actagaaaga ctagtataaa agcattattg cccactgttc tcatagctaa
     2281 aagttaagaa ggaaggaagg aaagcaggag aaaggaagga ttaattgcct gtatgtgagg
     2341 accaaacaac ctttgggaac taaacagttt tcagagatgg cgtggcactg catccttggt
     2401 tcttgctttg attggtgccc tgctatagcc caaagcacgt agtatttgct gatgattcag
     2461 catgagctgc atctacctac ttttagctga taattttcag ttatttccct ttttatttta
     2521 tgtcatgatt tcaaagccaa aaatatgttc tttttatgag tgaagaataa acttactaac
     2581 aaattagtca aaataaagta tgtttgcctc cttaattcag tcagaattgt catatttatt
     2641 gtatgttcct ctttagttag gtacggttcc tgctattcac ctatatggag gatgccccat
     2701 tcttctagga atgcattctc agggaaccac aggaggtcct gggaatcact atgggcagag
     2761 aatatgcaaa tgagtcaaaa ctgggatagg aagaaaatgt tttgtcttag gagatcctga
     2821 atgactataa aatgctgtta caaagcagta aatctgcttc tctgaaagat gtttccttcc
     2881 attgttagct ctcaaatgct cttttaatag acatgcatgt gtacctgtgt ctcagaagta
     2941 ttagggatgc atgagtgaag ggttctaatt tttaaaattt catttgaaga tcaaattcat
     3001 gctggtgaga agggtagtag gagcctatta ccatagctag agatgatgcc acttcagaaa
     3061 aacaatctta gtcaataaat aggaattttt cggtttgctt agattttacc tagcagctat
     3121 tatgtcagca ggaccaccag gatatgggaa aacaggacta gaagatgtac gacagcaaag
     3181 acatgcagag acatgcagag acacctggaa ggaagctagg taagctgcta ttgcggttct
     3241 gagaaagacc cacatcctta agatctcttg attactcttc tcccaaaagg cgtgcttaac
     3301 tttaacaggt taccattttt ctgatcatag ccttaaaagg ctgtcctggt tttttctttt
     3361 tctttttttt tttttgagac agagtcttgc tctgtcaccc aggctggagt gcagtggcgc
     3421 gatctcggct cactgcaagc tccgcttccc aggttcacgc cattctcctg cctcagcctc
     3481 ccaagtagct gggtctacag gtgcccgcca ccatgcccag ctaagttttt gtatttttag
     3541 tagagacggg gtttcaccat gttagccagg atggtctcga tctcctgacc tcatgatccg
     3601 cctgcctcgg cctcccaaag tgctgggatt acaggtgtga gccaccatgc ctgtcctgtc
     3661 ctggtttttt catcttggca cttaggccat cagcttacta gtgtgtaacc tcagtttcct
     3721 cctgatagca cacacttcgt aagatagtca tgagaatcaa aagaaacaat gcatgtaaag
     3781 catttctcat catgcctggc acacagcaaa cacccaatac gttgagcttt aattattact
     3841 cttttggctg taggttgaac aatagggttg gtgccctagg acagaggagc tattagcatt
     3901 gctttctgat cctttagcct ctccaaactg aaacatatgg accatttctc atctggctag
     3961 taaacactta tctctcctgg gcttatatct tgtttggtat agaaatgaga tcccagcttg
     4021 aaggtgatgt tgagaggaga accaagagta tattgtctgt gggattctgg cagattggaa
     4081 agatgtaaga acttgtgact ctttgggagt ctgggtaact gttcccactc taggctttgc
     4141 agatgaatgg acctagctgt ttagtaatct gtccagcttc ctgcatgtct gttctcccct
     4201 aaccctccca tccctgctgc taaagagact tgacactcac atgctttctt ggcccagtca
     4261 ccctgggaat cttaggaaca ctaagtcagc actcaatgaa atggcagcaa gccatcccag
     4321 ccactgctgg ctctatgcag acctgcttca ggcctggtaa tagggtctct ctcttgttcc
     4381 tgaaaccaag cctctttatt cctcagcttt ggtctctgct tccttcctac ctgagttccc
     4441 tttcgctcct acctgctccc actaccccat actgatttct acttcttgaa tccttacttt
     4501 gtcgggtctc aaacgtcgaa tggcgatcct cccatctagt tctacactcc aaactcattt
     4561 tgcgttctga agttccttgg tgaagataat ccccagataa aaagacaagg agacctgggt
     4621 ctgctgggtt agggatcaag tgagggtcct atgttgtaag tgagtggtga tctagggaac
     4681 aaattgccat ttcttcttgg aattttccag ggttttcagg gaaggggaag agatgcaaat
     4741 cccatagtct gagactctct aggctagtgt gtgctgaaga attgcttttt ttcaaaaggg
     4801 atctcacgca gaaacactat tgcatttgcc tcaaaagcag aaacatttag tacccccatt
     4861 tagggagata ctgtacccga tgttctggta cagcagctgg atggtgaagt gtgctgctac
     4921 acctgaggat ggttaccaag tgtgcaggtg gacctgaggc ttgttaactg tgctgctgag
     4981 tcagaggatg gtgctggtat cagctcctca cttcctgagc ttcattccac tgaaggcctg
     5041 gcatgtaaga cagtgcaacc ctaccatgct cctgatctat tcctgattgg gcaaggaatg
     5101 cactgggatt catattctct tcaatgagta atcatcataa caacaaagat tcattgagca
     5161 atgtcttgca ctattataag ctctttgtat acattctcat ttaatctcct aacactgcga
     5221 tatatatatg atagcaatcc catttgaaca ctagaaaact gaggcataga gaggatgaaa
     5281 aaaaacgtaa ctaagggtat ttcaaccaat aaatagtaga cagtacccac attcactgtt
     5341 agtcttaagg atctggcatc tgggaagaat tttgatgtcc atggtcgttc ctaatccact
     5401 ttcatgtttt gtcattatgc tgaggaatag caaataaaag atgagaattt ctcaactgtg
     5461 tctacatgtg aagcatatcg tagacattat gtgcggtata aatactaaca aatgtataag
     5521 tacacatgta caatattgtg tattatttaa ggatatacat attaaagtgt aaaatattgg
     5581 cagctggatt cattgcaata atgtgtagag aatcaacttc aggagggggc aataattaaa
     5641 ttagggggac cagttgggaa ggtactgcat tattctaggc aagagataat tgtgacttgg
     5701 atcaaggtga tagcggcaga ggcgtcagaa agtagttgga tcttgggtat attttaaaga
     5761 tgaagcaaca agatttactg acagaactgg atatggagta tgagaaacag tagtcaatga
     5821 tggccacaag gtttttggct tgaactaccg aaaagattga gttgccatca actgagatga
     5881 gagcaatctg tgaatggaac atctgctggg aggaaggatc aggaattccg tcttatggaa
     5941 tacacaatgc atctcaacat gtacaatata tacaagatat accacacatc tcagcatatg
     6001 ttgagatggt tgttaaatat ccaagtgcag gtgttaagta ggtgtgaata tgagttggga
     6061 gttgagaagt atagattggg ctagaattat agaatttgga gtcattggcg tatagcagta
     6121 cttgtttatg ctatctttat atttaagaga ataaacctat cacttgctaa ataaga
//
