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TTLL6 Gene(Protein Coding)

Tubulin Tyrosine Ligase Like 6

GCID:
GC17M048757
GIFtS:
50
Genes Participants
UDN Logo

Aliases for TTLL6 Gene

Aliases for TTLL6 Gene

  • Tubulin Tyrosine Ligase Like 6 2 3 5
  • Tubulin Tyrosine Ligase-Like Family Member 6 2 3
  • Tubulin--Tyrosine Ligase-Like Protein 6 3 4
  • TTL.6 3 4
  • Tubulin Polyglutamylase TTLL6 3
  • EC 6.-.-.- 4

External Ids for TTLL6 Gene

Previous GeneCards Identifiers for TTLL6 Gene

  • GC17M044196
  • GC17M046839
  • GC17M042208

Summaries for TTLL6 Gene

GeneCards Summary for TTLL6 Gene

TTLL6 (Tubulin Tyrosine Ligase Like 6) is a Protein Coding gene. Diseases associated with TTLL6 include Joubert Syndrome 1. GO annotations related to this gene include ligase activity and tubulin binding. An important paralog of this gene is TTLL13P.

UniProtKB/Swiss-Prot for TTLL6 Gene

  • Polyglutamylase which preferentially modifies alpha-tubulin. Mediates tubulin polyglutamylation in cilia. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step. Generates long side-chains. Generates polyglutamylation of CGAS/MB21D1, leading to impair the DNA-binding activity of CGAS/MB21D1.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTLL6 Gene

Genomics for TTLL6 Gene

Products:

  1. Regulatory Element

Regulatory Elements for TTLL6 Gene

Enhancers for TTLL6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G048869 1.3 Ensembl ENCODE 23.1 -54.5 -54492 5.1 FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS ATP5G1 TTLL6 CALCOCO2 UBE2Z HOXB13 PRAC1 PRAC2 SUMO2P17 LOC105371811 ENSG00000238804
GH17G048840 0.8 ENCODE 24.4 -24.7 -24726 3.9 HDGF BMI1 RAD21 ZNF766 RELB ETV6 IKZF2 CREM CBFB JUNB ATP5G1 TTLL6 PRAC1 PRAC2 HOXB13 LOC105371811 CALCOCO2 UBE2Z FAM117A GC17P048882
GH17G048817 0.9 ENCODE 17.8 -1.1 -1135 1.9 PKNOX1 INSM2 ARID4B ZNF76 SIN3A NFXL1 RARA ZNF366 ELK1 THAP11 TTLL6 CALCOCO2
GH17G048830 1.1 ENCODE 13.9 -14.2 -14200 2.0 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A ZNF2 ZBTB7B SLC30A9 ZNF766 TTLL6 CALCOCO2 FAM117A GC17P048882
GH17G048799 1 ENCODE 15 +16.3 16303 3.6 ARID4B SIN3A ZNF48 YY1 SP5 MXD4 PPARG KAT8 SSRP1 MIER3 ATP5G1 TTLL6 PRAC1 PRAC2 LOC105371811 HOXB13 ENSG00000238804 ENSG00000230532 SNF8 RNU1-42P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTLL6 on UCSC Golden Path with GeneCards custom track

Promoters for TTLL6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000095389 114 601 FOXA2 ARID4B SIN3A GLIS2 ELK1 ZNF263 SP3 NFYC REST ZNF579

Transcription factor binding sites by QIAGEN in the TTLL6 gene promoter:

Genomic Location for TTLL6 Gene

Chromosome:
17
Start:
48,762,231 bp from pter
End:
48,817,214 bp from pter
Size:
54,984 bases
Orientation:
Minus strand

Genomic View for TTLL6 Gene

Genes around TTLL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTLL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTLL6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TTLL6 Gene

Proteins for TTLL6 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TTLL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N841-TTLL6_HUMAN
    Recommended name:
    Tubulin polyglutamylase TTLL6
    Protein Accession:
    Q8N841
    Secondary Accessions:
    • B4DZJ5
    • C9J233
    • Q24KB1
    • Q24KB2
    • Q24KB6
    • Q24KF3
    • Q24KJ5
    • Q24KN7
    • Q24KS9
    • Q24KX1
    • Q24L13
    • Q24L55
    • Q24L76
    • Q8IYW6
    • Q8NA62

    Protein attributes for TTLL6 Gene

    Size:
    843 amino acids
    Molecular mass:
    96401 Da
    Quaternary structure:
    • Found in a complex with CEP41.
    SequenceCaution:
    • Sequence=BAC04066.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTLL6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTLL6 Gene

Protein Expression for TTLL6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TTLL6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TTLL6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TTLL6 Gene

Domains & Families for TTLL6 Gene

Gene Families for TTLL6 Gene

HGNC:

Protein Domains for TTLL6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TTLL6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N841

UniProtKB/Swiss-Prot:

TTLL6_HUMAN :
  • The flexible c-MTBD (cationic microtubule binding domain) region mediates binding to microtubules. It is positively charged and becomes ordered when bound to microtubules: it interacts with a negatively charged patch on tubulin. The presence of positive charges in the c-MTBD region is essential for proper binding.
  • Belongs to the tubulin--tyrosine ligase family.
Domain:
  • The flexible c-MTBD (cationic microtubule binding domain) region mediates binding to microtubules. It is positively charged and becomes ordered when bound to microtubules: it interacts with a negatively charged patch on tubulin. The presence of positive charges in the c-MTBD region is essential for proper binding.
Family:
  • Belongs to the tubulin--tyrosine ligase family.
genes like me logo Genes that share domains with TTLL6: view

Function for TTLL6 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for TTLL6 Gene

UniProtKB/Swiss-Prot Function:
Polyglutamylase which preferentially modifies alpha-tubulin. Mediates tubulin polyglutamylation in cilia. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step. Generates long side-chains. Generates polyglutamylation of CGAS/MB21D1, leading to impair the DNA-binding activity of CGAS/MB21D1.

Enzyme Numbers (IUBMB) for TTLL6 Gene

Gene Ontology (GO) - Molecular Function for TTLL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22246503
GO:0005524 ATP binding IEA --
GO:0015631 tubulin binding ISS,IEA --
GO:0016874 ligase activity IEA --
GO:0070739 protein-glutamic acid ligase activity IEA,ISS --
genes like me logo Genes that share ontologies with TTLL6: view
genes like me logo Genes that share phenotypes with TTLL6: view

Animal Models for TTLL6 Gene

MGI Knock Outs for TTLL6:

Animal Model Products

  • Taconic Biosciences Mouse Models for TTLL6

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TTLL6 Gene

Localization for TTLL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTLL6 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=CEP41 is required for its transport between the basal body and the cilium. {ECO:0000269 PubMed:22246503}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTLL6 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TTLL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with TTLL6: view

Pathways & Interactions for TTLL6 Gene

SuperPathways for TTLL6 Gene

PathCards logo More details on SuperPathways for TTLL6
No Data Available

Interacting Proteins for TTLL6 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000377043%0d%0a9606.ENSP00000340820%0d%0a9606.ENSP00000216181%0d%0a
Selected Interacting proteins: Q8N841-TTLL6_HUMAN ENSP00000377043 for TTLL6 Gene via IID STRING

Gene Ontology (GO) - Biological Process for TTLL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001578 microtubule bundle formation IEA --
GO:0003353 positive regulation of cilium movement IEA --
GO:0006464 cellular protein modification process IEA --
GO:0018095 protein polyglutamylation TAS,IEA --
GO:0051013 microtubule severing IEA --
genes like me logo Genes that share ontologies with TTLL6: view

No data available for Pathways by source and SIGNOR curated interactions for TTLL6 Gene

Drugs & Compounds for TTLL6 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for TTLL6 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TTLL6 Gene

(9) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TTLL6 Gene

Tubulin tyrosine ligase-like family, member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTLL6 Gene

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

Relevant External Links for TTLL6 Gene

GeneLoc Exon Structure for
TTLL6
ECgene alternative splicing isoforms for
TTLL6

Expression for TTLL6 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTLL6 Gene

mRNA expression in normal human tissues for TTLL6 Gene
mRNA expression by BioGPS for TTLL6 GenemRNA expression by GTEx for TTLL6 Gene

mRNA differential expression in normal tissues according to GTEx for TTLL6 Gene

This gene is overexpressed in Testis (x20.8), Colon - Transverse (x6.5), and Kidney - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for TTLL6 Gene

This gene is overexpressed in Heart (54.3) and Platelet (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TTLL6 Gene



Protein tissue co-expression partners for TTLL6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTLL6 Gene:

TTLL6

SOURCE GeneReport for Unigene cluster for TTLL6 Gene:

Hs.91930
genes like me logo Genes that share expression patterns with TTLL6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTLL6 Gene

Orthologs for TTLL6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTLL6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia TTLL6 34
  • 99.11 (n)
FLJ35808 35
  • 98 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia TTLL6 34 35
  • 84.46 (n)
dog
(Canis familiaris)
 Mammalia TTLL6 34 35
  • 83.37 (n)
mouse
(Mus musculus)
 Mammalia Ttll6 34 16 35
  • 77.24 (n)
rat
(Rattus norvegicus)
 Mammalia Ttll6 34
  • 77.03 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia TTLL6 35
  • 76 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia TTLL6 35
  • 51 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TTLL6 35
  • 74 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii ttll6 35
  • 46 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG5987 35
  • 34 (a)
 ManyToMany
CG16716 35
  • 28 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 66 (a)
 OneToMany
Species where no ortholog for TTLL6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TTLL6 Gene

ENSEMBL:
Gene Tree for TTLL6 (if available)
TreeFam:
Gene Tree for TTLL6 (if available)

Paralogs for TTLL6 Gene

Paralogs for TTLL6 Gene

(5) SIMAP similar genes for TTLL6 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for TTLL6 Gene

genes like me logo Genes that share paralogs with TTLL6: view

Variants for TTLL6 Gene

Sequence variations from dbSNP and Humsavar for TTLL6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000016692 -- 48,792,050(+) CTAGG(A/G)ACACT intron-variant
rs1000088238 -- 48,811,817(+) CTCAG(A/C)CTCCC intron-variant, upstream-variant-2KB
rs1000189805 -- 48,815,625(+) GATGT(G/T)TTTTG intron-variant
rs1000424775 -- 48,808,259(+) AATAG(C/T)TCTAA intron-variant
rs1000425841 -- 48,763,656(+) ATTAG(A/C)CAGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTLL6 Gene

Variant ID Type Subtype PubMed ID
esv3353026 CNV insertion 20981092
esv3640723 CNV loss 21293372
esv3640724 CNV gain 21293372
esv3640725 CNV loss 21293372
esv3640726 CNV gain 21293372
nsv575485 CNV loss 21841781

Variation tolerance for TTLL6 Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.28; 88.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTLL6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTLL6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTLL6 Gene

Disorders for TTLL6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TTLL6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TTLL6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TTLL6

Genetic Association Database (GAD)
TTLL6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTLL6
genes like me logo Genes that share disorders with TTLL6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTLL6 Gene

Publications for TTLL6 Gene

  1. The testis-specific apoptosis related gene TTL.6 underwent adaptive evolution in the lineage leading to humans. (PMID: 16443334) Chen X.-H. … Su B. (Gene 2006) 3 4 22 64
  2. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. (PMID: 15890843) Janke C. … Edde B. (Science 2005) 2 3 4 64
  3. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. (PMID: 22246503) Lee J.E. … Gleeson J.G. (Nat. Genet. 2012) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for TTLL6 Gene

Sources for TTLL6 Gene

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