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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TTLL11 Gene

protein-coding   GIFtS: 46
GCID: GC09M124584

tubulin tyrosine ligase-like family, member 11

(Previous name: chromosome 9 open reading frame 20 )
(Previous symbol: C9orf20)
 Explore 2 diseases affiliated with
TTLL11 via our new
 Human Malady Compendium 
Biological research products
for TTLL11
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tubulin Tyrosine Ligase-Like Family, Member 111 2     Chromosome 9 Open Reading Frame 201
C9orf201 2 3     Tubulin Polyglutamylase TTLL112
BA244O19.11     EC 6.-.-.-3
Tubulin--Tyrosine Ligase-Like Protein 112 3     

External Ids:    HGNC: 181131   Entrez Gene: 1581352   Ensembl: ENSG000001757647   UniProtKB: Q8NHH13   

Export aliases for TTLL11 gene to outside databases

Previous GC identifers: GC09M121664 GC09M123624 GC09M123791 GC09M094322


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TTL11_HUMAN, Q8NHH1
Function: Polyglutamase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the
polyglutamylation reaction rather than in the initiation step (By similarity). Required for CCSAP localization to both
spindle and cilia microtubules




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTLL11 gene promoter:
         GR   Pbx1a   p53   Meis-1b   CP2   HOXA5   Meis-1a   GR-alpha   ATF6   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TTLL11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTLL11


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q33.2   Ensembl cytogenetic band:  9q33.2   HGNC cytogenetic band: 9q34.11

TTLL11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTLL11 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M124584:  view genomic region     (about GC identifiers)

Start:
124,584,204 bp from pter      End:
124,855,885 bp from pter
Size:
271,682 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TTL11_HUMAN, Q8NHH1 (See protein sequence)
Recommended Name: Tubulin polyglutamylase TTLL11  
Size: 538 amino acids; 58035 Da
Subcellular location: Cytoplasm, cytoskeleton, cilium basal body (By similarity)

Explore the universe of human proteins at neXtProt for TTLL11: NX_Q8NHH1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NHH1

  • TTLL11 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001132914.1  NP_919228.2  

    ENSEMBL proteins: 
     ENSP00000362883   ENSP00000362881   ENSP00000321346  

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    Uscn Proteins for TTLL11

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005929cilium IEA--
    GO:0005932microtubule basal body IEA--


    TTLL11 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TTLL11


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TTLL11 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004344 Tub_tyr_ligase

    Graphical View of Domain Structure for InterPro Entry Q8NHH1

    ProtoNet protein and cluster: Q8NHH1

    1 Blocks protein family: IPB004344 Tubulin-tyrosine ligase

    UniProtKB/Swiss-Prot: TTL11_HUMAN, Q8NHH1
    Similarity: Belongs to the tubulin--tyrosine ligase family
    Similarity: Contains 1 TTL domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TTL11_HUMAN, Q8NHH1
    Function: Polyglutamase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the
    polyglutamylation reaction rather than in the initiation step (By similarity). Required for CCSAP localization to both
    spindle and cilia microtubules

    Enzyme Number (IUBMB): EC 6.-.-.-1

    miRNA
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    hsa-miR-495 hsa-miR-7-1* hsa-miR-7-2*
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTLL11

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004835tubulin-tyrosine ligase activity IEA--


    TTLL11 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TTLL11:
     Cell cycle / mitosis defect 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TTLL11

    1 Interacting protein for TTLL11 (Q8NHH12) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --P310162MINT-8108126
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process IEA--
    GO:0018095protein polyglutamylation ----
    GO:0051013microtubule severing ----


    TTLL11 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TTLL11
    Search CenterWatch for drugs/clinical trials and news about TTLL11 / TTL11 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TTLL11 gene (2 alternative transcripts): 
    NM_001139442.1  NM_194252.2  

    Unigene Cluster for TTLL11:

    Tubulin tyrosine ligase-like family, member 11
    Hs.640663  [show with all ESTs]
    Unigene Representative Sequence: NM_001139442
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486362 ENST00000373778 ENST00000474723 ENST00000373776(uc004blt.1 uc004blu.1)
    ENST00000487468 ENST00000321582(uc011lym.1 uc011lyl.2 uc004blr.3)


    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate TTLL11:
    hsa-miR-495 hsa-miR-7-1* hsa-miR-7-2*
    SwitchGear 3'UTR luciferase reporter plasmidTTLL11 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TTLL11 (see all 4)
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    OriGene siRNA: TTLL11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TTLL11
    Clone
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    Additional cDNA sequence: 

    AF521886.1 AF521887.1 BC089452.1 BC171751.1 

    4 DOTS entries:

    DT.99947626  DT.40265942  DT.208691  DT.99947228 

    24/36 AceView cDNA sequences (see all 36):

    AI741070 AF521886 AI571330 AW629275 AI150621 CF128404 AK125178 BM929722 
    AF521887 NM_194252 AA609430 BF439913 AA861826 BX092305 BX282469 BG771772 
    AI185724 AA676222 AW015518 BF108868 BF594279 AI769213 AI472951 BQ103840 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TTLL11    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                    -                             -     -     -                     
    SP2:                                                                                    
    SP3:                                                              -                     
    SP4:                                                                                    


    ECgene alternative splicing isoforms for TTLL11

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TTLL11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TTLL11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTLL11

    SOURCE GeneReport for Unigene cluster: Hs.640663
        SABiosciences Custom PCR Arrays for TTLL11
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTLL11

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TTLL11 gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TTLL111 tubulin tyrosine ligase-like family, member 11 75.53(n)
    79.97(a)
      417115  XM_415399.3  XP_415399.3 
    lizard
    (Anolis carolinensis)
    Reptilia TTLL116
    --
    73(a)
    1 ↔ 1
    AAWZ02037732(2076-11938)
    zebrafish
    (Danio rerio)
    Actinopterygii ttll111 tubulin tyrosine ligase-like family, member 11 65.66(n)
    70.69(a)
      558156  NM_001077375.1  NP_001070843.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ttll-111 Protein TTLL-11 47(n)
    39.2(a)
      177677  NM_171405.3  NP_741471.2 


    ENSEMBL Gene Tree for TTLL11 (if available)
    TreeFam Gene Tree for TTLL11 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTLL11 gene
    TTLL102  TTLL42  TTLL32  TTLL12  TTLL52  TTLL92  TTLL72  TTLL62  
    TTL2  TTLL82  TTLL22  TTLL132  ARPC4-TTLL32  
    5 SIMAP similar genes for TTLL11 using alignment to 4 protein entries:     TTL11_HUMAN (see all proteins):
    TTLL6    TTLL13    TTLL7    TTLL5    TTLL4

    TTLL11 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4929 NCBI SNPs in TTLL11 are shown (see all 4929    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1168559821,2
    C,F,--124583952(+) CCTGAC/ACCTGG 1 -- int11Minor allele frequency- A:0.02NA 120
    rs70238591,2
    C,F,--124584261(+) ATTAAT/CTTTTT 1 -- ut311Minor allele frequency- C:0.03WA 118
    rs1507091541,2
    --124584414(+) CGGAAC/TGGGCG 1 -- ut310--------
    rs78690451,2
    C,F,--124584495(+) CACTCG/AGCTTC 1 -- ut31 ese36Minor allele frequency- A:0.12NA WA 246
    rs1391129861,2
    --124584560(+) AGATTC/TGCCCC 1 -- ut310--------
    rs1885812911,2
    --124584809(+) TGGGGC/TGCTCC 1 -- ut310--------
    rs1928009461,2
    --124584833(+) GCTCTC/TGTCTT 1 -- ut310--------
    rs1825230011,2
    --124585093(+) AAGTGG/TCAGCA 2 T P mis10--------
    rs1440222961,2
    --124585202(+) TGCCCC/TACGCT 1 -- int10--------
    rs1459821831,2
    --124585208(+) ACGCTA/GCCCTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for TTLL11 (124584204 - 124834204 bp, first 250kb of TTLL11)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for TTLL11
         2 CNVs: 6713 59507
         7 Indels: 42554 52704 47642 13199 29050 41680 41206
    Human Gene Mutation Database (HGMD): TTLL11

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TTLL11 for disorders           About GeneDecksing

    2 diseases for TTLL11:    About MalaCards
    cleft lip/palate    cleft lip

    Human Genome Epidemiology (HuGE) Navigator: TTLL11 (2 documents)

    Export disorders for TTLL11 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TTLL11 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TTLL11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. (PubMed id 15890843)1, 3 Janke C.... Edde B. (2005)
    2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    3. CSAP localizes to polyglutamylated microtubules and promotes proper cilia function and zebrafish development. (PubMed id 22493317)2 Backer C.B.... Cheeseman I.M. (2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PubMed id 20583170)1 Letra A....Vieira A.R. (2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    9. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 158135 HGNC: 18113 AceView: C9orf20 Ensembl:ENSG00000175764 euGenes: HUgn158135
    ECgene: TTLL11 H-InvDB: TTLL11

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TTLL11 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TTLL11 gene:
    Search GeneIP for patents involving TTLL11

    GeneCards and IP:
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