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TTLL6 Gene(Protein Coding)

Tubulin Tyrosine Ligase Like 6

GCID:
GC17M048757
GIFtS:
45
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
  • 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 TTLL8.

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.

No data available for Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around TTLL6 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for TTLL6 Gene at MOPED

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.
  • Contains 1 TTL domain.
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
  7. Flow Cytometry

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.

Enzyme Numbers (IUBMB) for TTLL6 Gene

Gene Ontology (GO) - Molecular Function for TTLL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015631 tubulin binding IEA,ISS --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with TTLL6: view

Phenotypes for TTLL6 Gene

GenomeRNAi human phenotypes for TTLL6:
genes like me logo Genes that share phenotypes with TTLL6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TTLL6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for TTLL6 Gene COMPARTMENTS Subcellular localization image for TTLL6 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for TTLL6 Gene

Pathways & Interactions for TTLL6 Gene

SuperPathways for TTLL6 Gene

PathCards logoMore details on SuperPathways for TTLL6
No Data Available

Interacting Proteins for TTLL6 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000377043%0d%0a9606.ENSP00000340820%0d%0a
Selected Interacting proteins: ENSP00000377043 for TTLL6 Gene via STRING

Symbol External ID(s) Details
MAPT

Gene Ontology (GO) - Biological Process for TTLL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
GO:0018095 protein polyglutamylation IEA,ISS --
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
  5. Flow Cytometry

mRNA/cDNA for TTLL6 Gene

(2) 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:

Inhibitory RNA Products

Flow Cytometry 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 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



SOURCE GeneReport for Unigene cluster for TTLL6 Gene Hs.91930

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

Protein tissue co-expression partners for TTLL6 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
 Mammalia TTLL6 35
  • 84.46 (n)
  • 77.94 (a)
TTLL6 36
  • 77 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia TTLL6 35
  • 83.37 (n)
  • 75.68 (a)
TTLL6 36
  • 75 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ttll6 35
  • 77.24 (n)
  • 68.9 (a)
Ttll6 16
Ttll6 36
  • 67 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia TTLL6 35
  • 99.11 (n)
  • 97.67 (a)
FLJ35808 36
  • 98 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ttll6 35
  • 77.03 (n)
  • 68.77 (a)
oppossum
(Monodelphis domestica)
 Mammalia TTLL6 36
  • 51 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TTLL6 36
  • 76 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TTLL6 36
  • 74 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii ttll6 36
  • 46 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG16716 36
  • 28 (a)
 ManyToMany
CG5987 36
  • 34 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 66 (a)
 OneToMany
Species with no ortholog for TTLL6:
  • 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:

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
rs2032844 - 48,770,002(-) TCTGA(G/T)TACAG reference, missense
rs471877 -- 48,783,675(+) atcca(C/T)ctgct intron-variant
rs477298 -- 48,784,262(+) TAGCC(C/T)GGCAT intron-variant
rs489005 -- 48,804,386(+) AGAAC(C/T)GGAAT intron-variant
rs498097 -- 48,781,362(+) ttttt(G/T)gagga intron-variant

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links 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
  • 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. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. (PMID: 15890843) Janke C. … Edde B. (Science 2005) 2 3 4 67
  2. 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 23
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. (PMID: 24280982) Ruderfer D.M. … Kendler K.S. (Mol. Psychiatry 2013) 3
  5. 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

Products for TTLL6 Gene

Sources for TTLL6 Gene

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