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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. Gene Ontology (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.

Additional gene information for TTLL6 Gene

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

GeneHancer (GH) Regulatory Elements for TTLL6 Gene

Promoters and enhancers for TTLL6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I048816 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.1 113 0.6 ARID4B SIN3A GLIS2 ELK1 ATF7 SP3 NFYC REST RFX3 GLIS1 TTLL6 ATP5MC1 CDK5RAP3 SCRN2 ENSG00000264701 UBE2Z LOC105371813
GH17I048817 Enhancer 0.8 ENCODE 567.8 -1.1 -1135 1.9 PKNOX1 INSM2 ARID4B ZNF76 SIN3A RARA ELK1 THAP11 SMARCA5 HCFC1 TTLL6 ENSG00000263412 CALCOCO2
GH17I048794 Promoter 0.6 EPDnew 550.3 +22.9 22870 0.1 THAP11 TTLL6 LOC105371813 RN7SL125P
GH17I048840 Promoter/Enhancer 1.3 Ensembl ENCODE 24.4 -24.7 -24725 3.9 HDGF BMI1 BATF IRF4 RAD21 ZNF766 ATF7 ETV6 BCLAF1 IKZF2 ATP5MC1 TTLL6 PRAC1 PRAC2 HOXB13 LOC105371811 CALCOCO2 UBE2Z FAM117A GC17P048882
GH17I048830 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.9 -14.2 -14199 2 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B IRF4 SLC30A9 POLR2B ZNF766 CALCOCO2 TTLL6 ENSG00000263412 FAM117A GC17P048882
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTLL6 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for TTLL6 Gene

Genomic Locations for TTLL6 Gene
chr17:48,762,231-48,817,214
(GRCh38/hg38)
Size:
54,984 bases
Orientation:
Minus strand
chr17:46,839,593-46,894,576
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for TTLL6 Gene

Proteins for TTLL6 Gene

  • 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

Post-translational modifications for TTLL6 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TTLL6 Gene

Domains & Families for TTLL6 Gene

Gene Families for TTLL6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TTLL6 Gene

Suggested Antigen Peptide Sequences for TTLL6 Gene

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

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

Phenotypes From GWAS Catalog 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 IEA,ISS --
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:

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
cytosol 4
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Vesicles (2)
See all subcellular structures

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

No Data Available

Interacting Proteins for TTLL6 Gene

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

No Compound Related Data Available

Transcripts for TTLL6 Gene

Unigene Clusters for TTLL6 Gene

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

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

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

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 33
  • 99.11 (n)
FLJ35808 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TTLL6 33 34
  • 84.46 (n)
dog
(Canis familiaris)
Mammalia TTLL6 33 34
  • 83.37 (n)
mouse
(Mus musculus)
Mammalia Ttll6 33 16 34
  • 77.24 (n)
rat
(Rattus norvegicus)
Mammalia Ttll6 33
  • 77.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TTLL6 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTLL6 34
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTLL6 34
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ttll6 34
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5987 34
  • 34 (a)
ManyToMany
CG16716 34
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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

(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 Variation AA Info Type
rs1000016692 -- 48,792,050(-) G/A intron_variant
rs1000088238 -- 48,811,817(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000189805 -- 48,815,625(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000424775 -- 48,808,259(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000425841 -- 48,763,656(-) C/A 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)

Additional Variant Information 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

Disorder Aliases PubMed IDs
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search TTLL6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 XH … Su B (Gene 2006) 3 4 22 58
  2. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. (PMID: 15890843) Janke C … Eddé B (Science (New York, N.Y.) 2005) 2 3 4 58
  3. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. (PMID: 22246503) Lee JE … Gleeson JG (Nature genetics 2012) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for TTLL6 Gene

Sources for TTLL6 Gene

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