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
  • Tubulin Polyglutamylase TTLL6 3 4
  • TTL.6 3 4
  • EC 6.-.-.- 4
  • FLJ35808 2
  • TTLL6 5

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 33 and Joubert Syndrome 15. 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 Summary 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, leading to impair the DNA-binding activity of CGAS.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTLL6 Gene

Genomics for TTLL6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TTLL6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTLL6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTLL6

Top Transcription factor binding sites by QIAGEN in the TTLL6 gene promoter:
  • AREB6
  • C/EBPalpha
  • GATA-1
  • GATA-3
  • NF-kappaB
  • NF-kappaB1
  • S8
  • USF1
  • USF2

Genomic Locations for TTLL6 Gene

Latest Assembly
chr17:48,762,234-48,817,247
(GRCh38/hg38)
Size:
55,014 bases
Orientation:
Minus strand

Previous Assembly
chr17:46,839,596-46,894,591
(GRCh37/hg19 by Entrez Gene)
Size:
54,996 bases
Orientation:
Minus strand

chr17:46,839,597-46,894,576
(GRCh37/hg19 by Ensembl)
Size:
54,980 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 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=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTLL6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTLL6 Gene

Post-translational modifications for TTLL6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
Blocks:
  • Tubulin-tyrosine ligase

Suggested Antigen Peptide Sequences for TTLL6 Gene

GenScript: Design optimal peptide antigens:
  • Tubulin tyrosine ligase-like family, member 6, isoform CRA_a (D3DTW0_HUMAN)
  • Tubulin--tyrosine ligase-like protein 6 (TTLL6_HUMAN)

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, leading to impair the DNA-binding activity of CGAS.

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:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 22246503
GO:0005524 ATP binding IEA --
GO:0015631 tubulin binding IEA,ISS --
GO:0016874 ligase activity IEA --
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:
  • Ttll6 Ttll6<tm1.1(KOMP)Vlcg>

Animal Models for research

  • Taconic Biosciences Mouse Models for TTLL6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTLL6

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
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
lysosome 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 IBA 21873635
genes like me logo Genes that share ontologies with TTLL6: view

Pathways & Interactions for TTLL6 Gene

PathCards logo

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:0000226 microtubule cytoskeleton organization IBA 21873635
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 IEA,TAS --
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

mRNA/cDNA for TTLL6 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTLL6

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

Expression for TTLL6 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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 and MOPED for TTLL6 Gene



Protein tissue co-expression partners for TTLL6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

No data available for 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 29
  • 99.11 (n)
FLJ35808 30
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TTLL6 29 30
  • 84.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TTLL6 29 30
  • 83.37 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ttll6 29 16 30
  • 77.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ttll6 29
  • 77.03 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TTLL6 30
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TTLL6 30
  • 51 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TTLL6 30
  • 74 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ttll6 30
  • 46 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5987 30
  • 34 (a)
ManyToMany
CG16716 30
  • 28 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 66 (a)
OneToMany
Species where no ortholog for TTLL6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TTLL6: view image
Alliance of Genome Resources:
Additional Orthologs for TTLL6

Paralogs for TTLL6 Gene

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

  • TTLL6_HUMAN
  • D3DTW0_HUMAN
  • F6QD81_HUMAN
  • F8W896_HUMAN
  • F8W9N0_HUMAN
  • F8WDP8_HUMAN

Pseudogenes.org Pseudogenes for TTLL6 Gene

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

Variants for TTLL6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTLL6 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs533233446 Benign: not provided 48,804,924(-) GCTTTCCAAAGTCGGG
NM_001366314.2(TTLL6):c.-901_-885del
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR
rs2032844 -- p.Glu664Asp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TTLL6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
TTLL6

SNP Genotyping and Copy Number Assays for research

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

Disorders for TTLL6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TTLL6 Gene - From: COP

Disorder Aliases PubMed IDs
joubert syndrome 33
  • jbts33
joubert syndrome 15
  • jbts15
primary ciliary dyskinesia
  • ciliary motility disorder
fundus dystrophy
  • retinal dystrophy
- 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
  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
  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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3

Products for TTLL6 Gene

Sources for TTLL6 Gene