LOCUS       NM_012263               1736 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens TTL family tubulin polyglutamylase complex subunit L1
            (TTLL1), transcript variant 1, mRNA.
ACCESSION   NM_012263
VERSION     NM_012263.5
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 1736)
  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 1736)
  AUTHORS   Kim,S.T., Cheng,Y., Hsu,F.C., Jin,T., Kader,A.K., Zheng,S.L.,
            Isaacs,W.B., Xu,J. and Sun,J.
  TITLE     Prostate cancer risk-associated variants reported from genome-wide
            association studies: meta-analysis and their contribution to
            genetic Variation
  JOURNAL   Prostate 70 (16), 1729-1738 (2010)
   PUBMED   20564319
  REMARK    GeneRIF: Meta-analysis of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 1736)
  AUTHORS   Eeles,R.A., Kote-Jarai,Z., Al Olama,A.A., Giles,G.G., Guy,M.,
            Severi,G., Muir,K., Hopper,J.L., Henderson,B.E., Haiman,C.A.,
            Schleutker,J., Hamdy,F.C., Neal,D.E., Donovan,J.L., Stanford,J.L.,
            Ostrander,E.A., Ingles,S.A., John,E.M., Thibodeau,S.N., Schaid,D.,
            Park,J.Y., Spurdle,A., Clements,J., Dickinson,J.L., Maier,C.,
            Vogel,W., Dork,T., Rebbeck,T.R., Cooney,K.A., Cannon-Albright,L.,
            Chappuis,P.O., Hutter,P., Zeegers,M., Kaneva,R., Zhang,H.W.,
            Lu,Y.J., Foulkes,W.D., English,D.R., Leongamornlert,D.A.,
            Tymrakiewicz,M., Morrison,J., Ardern-Jones,A.T., Hall,A.L.,
            O'Brien,L.T., Wilkinson,R.A., Saunders,E.J., Page,E.C.,
            Sawyer,E.J., Edwards,S.M., Dearnaley,D.P., Horwich,A.,
            Huddart,R.A., Khoo,V.S., Parker,C.C., Van As,N., Woodhouse,C.J.,
            Thompson,A., Christmas,T., Ogden,C., Cooper,C.S., Southey,M.C.,
            Lophatananon,A., Liu,J.F., Kolonel,L.N., Le Marchand,L.,
            Wahlfors,T., Tammela,T.L., Auvinen,A., Lewis,S.J., Cox,A.,
            FitzGerald,L.M., Koopmeiners,J.S., Karyadi,D.M., Kwon,E.M.,
            Stern,M.C., Corral,R., Joshi,A.D., Shahabi,A., McDonnell,S.K.,
            Sellers,T.A., Pow-Sang,J., Chambers,S., Aitken,J., Gardiner,R.A.,
            Batra,J., Kedda,M.A., Lose,F., Polanowski,A., Patterson,B.,
            Serth,J., Meyer,A., Luedeke,M., Stefflova,K., Ray,A.M., Lange,E.M.,
            Farnham,J., Khan,H., Slavov,C., Mitkova,A., Cao,G. and Easton,D.F.
  CONSRTM   UK Genetic Prostate Cancer Study Collaborators/British Association
            of Urological Surgeons' Section of Oncology; UK ProtecT Study
            Collaborators; PRACTICAL Consortium
  TITLE     Identification of seven new prostate cancer susceptibility loci
            through a genome-wide association study
  JOURNAL   Nat Genet 41 (10), 1116-1121 (2009)
   PUBMED   19767753
  REMARK    GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   4  (bases 1 to 1736)
  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
REFERENCE   5  (bases 1 to 1736)
  AUTHORS   Collins,J.E., Goward,M.E., Cole,C.G., Smink,L.J., Huckle,E.J.,
            Knowles,S., Bye,J.M., Beare,D.M. and Dunham,I.
  TITLE     Reevaluating human gene annotation: a second-generation analysis of
            chromosome 22
  JOURNAL   Genome Res 13 (1), 27-36 (2003)
   PUBMED   12529303
REFERENCE   6  (bases 1 to 1736)
  AUTHORS   Trichet,V., Ruault,M., Roizes,G. and De Sario,A.
  TITLE     Characterization of the human tubulin tyrosine ligase-like 1 gene
            (TTLL1) mapping to 22q13.1
  JOURNAL   Gene 257 (1), 109-117 (2000)
   PUBMED   11054573
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136687.1, DA247656.1, AI369631.1 and BG911167.1.
            
            On Nov 23, 2018 this sequence version replaced NM_012263.4.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.29639.1,
                                           SRR1660803.105068.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266254.12/ ENSP00000266254.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AL136687.1         38-49
            13-115              DA247656.1         3-105
            116-1608            AL136687.1         153-1645
            1609-1682           AI369631.1         53-126              c
            1683-1733           AI369631.1         1-51                c
            1734-1736           BG911167.1         796-798
FEATURES             Location/Qualifiers
     source          1..1736
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..1736
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /note="TTL family tubulin polyglutamylase complex subunit
                     L1"
                     /db_xref="GeneID:25809"
                     /db_xref="HGNC:HGNC:1312"
                     /db_xref="MIM:608955"
     exon            1..115
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     exon            116..200
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     exon            201..317
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     CDS             205..1476
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /note="catalytic subunit of neural tubulin
                     polyglutamylase; tubulin-tyrosine ligase; probable tubulin
                     polyglutamylase TTLL1; PGs3; tubulin--tyrosine ligase-like
                     protein 1; tubulin polyglutamylase complex subunit 3;
                     tubulin tyrosine ligase-like family, member 1; tubulin
                     tyrosine ligase like 1; polyglutamylase subunit 3"
                     /codon_start=1
                     /product="polyglutamylase complex subunit TTLL1"
                     /protein_id="NP_036395.1"
                     /db_xref="CCDS:CCDS14043.1"
                     /db_xref="GeneID:25809"
                     /db_xref="HGNC:HGNC:1312"
                     /db_xref="MIM:608955"
                     /translation="MAGKVKWVTDIEKSVLINNFEKRGWVQVTENEDWNFYWMSVQTI
                     RNVFSVEAGYRLSDDQIVNHFPNHYELTRKDLMVKNIKRYRKELEKEGSPLAEKDENG
                     KYLYLDFVPVTYMLPADYNLFVEEFRKSPSSTWIMKPCGKAQGKGIFLINKLSQIKKW
                     SRDSKTSSFVSQSNKEAYVISLYINNPLLIGGRKFDLRLYVLVSTYRPLRCYMYKLGF
                     CRFCTVKYTPSTSELDNMFVHLTNVAIQKHGEDYNHIHGGKWTVSNLRLYLESTRGKE
                     VTSKLFDEIHWIIVQSLKAVAPVMNNDKHCFECYGYDIIIDDKLKPWLIEVNASPSLT
                     SSTANDRILKYNLINDTLNIAVPNGEIPDCKWNKSPPKEVLGNYEILYDEELAQGDGA
                     DRELRSRQGQSLGPRAGRSRDSGRAVLTTWK"
     exon            318..526
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     exon            527..707
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     exon            708..842
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     exon            843..951
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1095
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1182
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1346
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1347..1736
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1584..1589
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /note="hexamer: AATAAA"
     polyA_site      1608
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /note="major polyA site"
     regulatory      1710..1715
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
                     /note="hexamer: ATTAAA"
     polyA_site      1736
                     /gene="TTLL1"
                     /gene_synonym="C22orf7; HS323M22B; TPGS3"
ORIGIN      
        1 agtcggctgc gtactcctgc gagcgccgga gaggggctgg aggcggggcg agggcgcggc
       61 tcgaggcatc cctgcagggc gctcctccga gtccctcggc gctctgagcc cacagggaag
      121 aaggaggggc cggcgtcagt gacgtcagcg agaccgaggt gagcgtgggc gttgccagtg
      181 gtgctctgtc agtgcctatg gattatggca gggaaagtaa aatgggtcac tgatatcgag
      241 aagtcagtgc tgatcaataa ctttgaaaag agaggatggg tccaagtgac agaaaacgag
      301 gactggaatt tttactggat gagtgtgcaa accatccgaa atgtgttcag cgttgaagct
      361 ggatatcggc tctcagatga ccaaatagtc aaccattttc caaaccacta tgaactgacc
      421 cggaaggacc tgatggtgaa gaacatcaaa agatacagga aggagctgga gaaagaaggg
      481 agtcctctgg cagaaaaaga tgaaaatgga aaatacctct atctggactt tgttccagtc
      541 acctatatgc tgcccgctga ctacaacctg tttgtagagg agttccggaa gagcccgtcc
      601 agcacctgga tcatgaagcc ttgtggcaag gcccagggaa agggcatctt ccttatcaac
      661 aagctctcac agatcaaaaa gtggtcccgg gacagcaaga catcttcgtt tgtgtctcaa
      721 tctaataagg aagcctacgt gatctctctc tatattaaca acccgttact aattggcggg
      781 aggaagttcg acctgcgctt gtacgttctg gtgtccacgt accgtccact gcgctgttac
      841 atgtacaagc ttgggttttg ccggttctgc acagtgaaat acaccccgag taccagtgag
      901 ctggacaaca tgttcgttca tctcaccaac gtcgccatcc agaaacacgg ggaggactac
      961 aaccacatcc atgggggcaa gtggacagtg agtaacctgc ggctctacct ggagagcacc
     1021 cgcggcaagg aggtgaccag caagctgttc gacgagatcc actggatcat cgtgcagtcc
     1081 ctgaaggctg tggcgccggt gatgaacaat gacaagcact gctttgaatg ctatggctac
     1141 gacatcatca tcgacgacaa gctgaagccc tggctgatcg aggtgaatgc gtccccgtct
     1201 ctcacgtcca gcactgccaa tgaccgaatc ctcaagtaca acctgattaa tgacaccctc
     1261 aacatcgccg tcccgaatgg tgaaatccca gactgcaaat ggaacaagtc gccacctaag
     1321 gaagtcctcg gcaattacga gattctgtat gatgaagaat tggcccaggg tgacggggct
     1381 gaccgggagc tgagaagccg tcagggtcag tctctggggc ccagagcagg ccgatcgaga
     1441 gactcgggga gagcggtcct caccacctgg aagtgagtcc cacctggacc ttatcaaaac
     1501 tactcactcc acctgggccc ctgctgaagc cctattttga aatttccctt ttgtagagct
     1561 tttttccttt cctaagccct gtaaataaac gaaggcactt ctttggaagg ttatggagtc
     1621 tgtttgacta gtgctaaagg aaacaattca tgcggatgta taaaactcgc tctttttttt
     1681 ttaattttta acctaagcag aattttcata ttaaaaactc acttttttga cagaaa
//
