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

TTLL9 Gene

protein-coding   GIFtS: 43
GCID: GC20P030458

Tubulin Tyrosine Ligase-Like Family, Member 9

(Previous name: chromosome 20 open reading frame 125)
(Previous symbol: C20orf125)
  Search for TTLL9
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tubulin Tyrosine Ligase-Like Family, Member 91 2     dJ310O13.12
C20orf1251 2 3     Probable Tubulin Polyglutamylase TTLL92
Tubulin--Tyrosine Ligase-Like Protein 92 3     EC 6.-.-.-3
Chromosome 20 Open Reading Frame 1251     

External Ids:    HGNC: 161181   Entrez Gene: 1643952   Ensembl: ENSG000001310447   UniProtKB: Q3SXZ73   

Export aliases for TTLL9 gene to outside databases

Previous GC identifers: GC20P029925 GC20P027247


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

GeneCards Summary for TTLL9 Gene: 
TTLL9 (tubulin tyrosine ligase-like family, member 9) is a protein-coding gene. GO annotations related to this gene include tubulin-tyrosine ligase activity. An important paralog of this gene is TTLL4.

UniProtKB/Swiss-Prot: TTLL9_HUMAN, Q3SXZ7
Function: Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when
complexed with other proteins (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTLL9 gene promoter:
         AhR   Spz1   Nkx2-5   AP-2gamma   POU3F2   GATA-2   AREB6   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTLL9 promoter sequence
   Search SABiosciences Chromatin IP Primers for TTLL9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTLL9


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

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11

TTLL9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTLL9 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P030458:  view genomic region     (about GC identifiers)

Start:
30,458,505 bp from pter      End:
30,532,764 bp from pter
Size:
74,260 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TTLL9_HUMAN, Q3SXZ7 (See protein sequence)
Recommended Name: Probable tubulin polyglutamylase TTLL9  
Size: 439 amino acids; 51472 Da
Subcellular location: Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cytoplasm, cytoskeleton (By
similarity)
Sequence caution: Sequence=CAI42576.1; Type=Erroneous gene model prediction; Sequence=CAI42577.1; Type=Erroneous
gene model prediction; Sequence=EAW76401.1; Type=Erroneous gene model prediction;
Secondary accessions: A6NH06 A6NIS5 B3KSG8 Q3SXZ8 Q5JYS3 Q5JYS4
Alternative splicing: 3 isoforms:  Q3SXZ7-1   Q3SXZ7-2   Q3SXZ7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTLL9: NX_Q3SXZ7

Explore proteomics data for TTLL9 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q3SXZ7

  • TTLL9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TTLL9 Protein Expression
    REFSEQ proteins: NP_001008409.1  
    ENSEMBL proteins: 
     ENSP00000365105   ENSP00000442515   ENSP00000365100   ENSP00000365088   ENSP00000308980  
     ENSP00000365086  

    Human Recombinant Protein Products for TTLL9: 
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    Cloud-Clone Corp. Proteins for TTLL9 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IEA--
    GO:0005929cilium IEA--
    GO:0005932microtubule basal body IEA--

    TTLL9 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TTLL: Tubulin tyrosine ligase-like family

    1 InterPro protein domain:
     IPR004344 Tub_tyr_ligase

    Graphical View of Domain Structure for InterPro Entry Q3SXZ7

    ProtoNet protein and cluster: Q3SXZ7

    1 Blocks protein domain: IPB004344 Tubulin-tyrosine ligase

    UniProtKB/Swiss-Prot: TTLL9_HUMAN, Q3SXZ7
    Similarity: Contains 1 TTL domain


    TTLL9 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TTLL9_HUMAN, Q3SXZ7
    Function: Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when
    complexed with other proteins (By similarity)

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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004835tubulin-tyrosine ligase activity ----
    GO:0016874ligase activity IEA--
         
    TTLL9 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TTLL9 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TTLL9

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TTLL9

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process IEA--

    TTLL9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TTLL9

    Search CenterWatch for drugs/clinical trials and news about TTLL9

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TTLL9 gene: 
    NM_001008409.2  

    Unigene Cluster for TTLL9:

    Tubulin tyrosine ligase-like family, member 9
    Hs.712915  [show with all ESTs]
    Unigene Representative Sequence: BC036213
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375938(uc002wxc.2 uc002wwy.1 uc002wxa.1 uc002wxb.1 uc010ztp.1)
    ENST00000535842(uc010gdx.1) ENST00000375934(uc010ztq.1 uc010zto.1)
    ENST00000375922 ENST00000310998 ENST00000375921(uc002wwz.1)
    miRNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TTLL9

    Additional mRNA sequence: 

    AK090839.1 AK093491.1 AK123328.1 AK302360.1 AK302806.1 AK303963.1 AL161969.1 BC036213.1 
    BC068593.1 BC104024.1 BC104025.1 

    10 DOTS entries:

    DT.70104561  DT.100808267  DT.75122960  DT.120836996  DT.99988345  DT.120836931  DT.120837040  DT.92042587 
    DT.100744946  DT.95270086 

    24/29 AceView cDNA sequences (see all 29):

    AK090839 AA648367 AI871204 AA897604 AW341668 BC036213 CD243364 BG185673 
    BX096895 AX748163 AI352198 AW104364 BU679850 BC068593 AA811957 AL161969 
    AL040619 AI693758 AK093491 BI459841 BG211546 BF346221 BG722591 BF918876 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TTLL9 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
    SP1:                                      -                 -                       -                 -                           
    SP2:                                      -           -                             -     -           -                           
    SP3:                                      -           -     -                                         -                           
    SP4:                          -           -                 -           -           -     -     -     -                           
    SP5:                                      -           -     -     -     -           -                                             


    ECgene alternative splicing isoforms for TTLL9

    (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

    TTLL9 expression in normal human tissues (normalized intensities)      TTLL9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCATAGGTT
    TTLL9 Expression
    About this image


    TTLL9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Skeletal Muscle (Muscoskeletal System)
             gastrocnemius muscle   
     
     Eye (Sensory Organs)
             retinal amacrine cell p0   
     
     Testis (Reproductive System)

    See TTLL9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTLL9

    SOURCE GeneReport for Unigene cluster: Hs.712915
        SABiosciences Custom PCR Arrays for TTLL9
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTLL9

    (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 TTLL9 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttll91 , 5 tubulin tyrosine ligase-like family, member 91, 5 85.29(n)1
    90.89(a)1
      2 (75.41 cM)5
    747111  NM_001083618.11  NP_001077087.11 
     1529624855 
    chicken
    (Gallus gallus)
    Aves TTLL91 tubulin tyrosine ligase-like family, member 9 71.89(n)
    74.29(a)
      771843  XM_003642467.1  XP_003642515.1 
    lizard
    (Anolis carolinensis)
    Reptilia TTLL96
    tubulin tyrosine ligase-like family, member 9
    75(a)
    1 ↔ 1
    GL343505.1(48884-81762)
    zebrafish
    (Danio rerio)
    Actinopterygii ttll91 tubulin tyrosine ligase-like family, member 9 69.31(n)
    71.87(a)
      556794  XM_679694.4  XP_684786.4 
    worm
    (Caenorhabditis elegans)
    Secernentea ttll-91 Protein TTLL-9 53.99(n)
    51.3(a)
      3564837  NM_001028670.1  NP_001023841.1 


    ENSEMBL Gene Tree for TTLL9 (if available)
    TreeFam Gene Tree for TTLL9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTLL9 gene
    TTLL42  TTLL102  ENSG000002611472  TTLL32  TTLL12  TTLL52  TTLL112  TTLL72  
    TTLL62  TTL2  TTLL82  TTLL22  TTLL132  ARPC4-TTLL32  
    3 SIMAP similar genes for TTLL9 using alignment to 3 protein entries:     TTLL9_HUMAN (see all proteins):
    TTLL1    TTLL4    TTLL5

    TTLL9 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/1480 SNPs in TTLL9 are shown (see all 1480)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012856061,2
    Cuntested130513893(+) AGACAG/AGGTAT 2 /Q syn11Minor allele frequency- A:0.00EU 1317
    rs1445837881,2
    --30460481(+) AGAGCA/GAGACC 1 -- int10--------
    rs1866142671,2
    --30460517(+) ACACAC/TGAAAA 1 -- int10--------
    rs1913097401,2
    C--30460534(+) AGAGTG/TGAGAG 1 -- int10--------
    rs1144677771,2
    F--30460586(+) GATGGG/AAATAG 1 -- int11Minor allele frequency- A:0.08WA 118
    rs1480405451,2
    C--30460602(+) CCTCTA/GTAAAA 1 -- int10--------
    rs739036691,2
    C,F--30460700(+) ATTGGG/CAGTTA 1 -- int13Minor allele frequency- C:0.11WA NA 240
    rs622062851,2
    C,F--30460793(+) AAATAC/TTTCGA 1 -- int13Minor allele frequency- T:0.02NA EU 691
    rs60584751,2
    C,F,A,H--30460869(+) tgggaT/Cagagt 1 -- int121Minor allele frequency- C:0.14NS EA NA WA CSA EU 2546
    rs801565541,2
    F--30460967(+) GATGTG/TGGGGG 1 -- int11Minor allele frequency- T:0.04EA 120

    HapMap Linkage Disequilibrium report for TTLL9 (30458505 - 30532764 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TTLL9:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv3347CNV Insertion18451855
    nsv912836CNV Loss21882294
    nsv833952CNV Gain17160897
    nsv817890CNV Gain17921354
    esv21897CNV Gain19812545
    nsv517635CNV Gain19592680

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TTLL9
    DNA2.0 Custom Variant and Variant Library Synthesis for TTLL9

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

    (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 TTLL9 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TTLL9)
        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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. 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)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)2 Deloukas P....Rogers J. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 164395 HGNC: 16118 AceView: LOC164395 Ensembl:ENSG00000131044 euGenes: HUgn164395
    ECgene: TTLL9 H-InvDB: TTLL9

    (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 TTLL9 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 TTLL9 gene:
    Search GeneIP for patents involving TTLL9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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