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Aliases for TTLL11 Gene

Aliases for TTLL11 Gene

  • Tubulin Tyrosine Ligase Like 11 2 3 5
  • Tubulin--Tyrosine Ligase-Like Protein 11 3 4
  • C9orf20 3 4
  • Tubulin Tyrosine Ligase-Like Family, Member 11 3
  • Tubulin Tyrosine Ligase-Like Family Member 11 2
  • Chromosome 9 Open Reading Frame 20 2
  • Tubulin Polyglutamylase TTLL11 3
  • Tubulin Tyrosine Ligase Like11 3
  • BA244O19.1 3
  • EC 6.-.-.- 4

External Ids for TTLL11 Gene

Previous HGNC Symbols for TTLL11 Gene

  • C9orf20

Previous GeneCards Identifiers for TTLL11 Gene

  • GC09M121664
  • GC09M123624
  • GC09M123791
  • GC09M124584
  • GC09M094322

Summaries for TTLL11 Gene

GeneCards Summary for TTLL11 Gene

TTLL11 (Tubulin Tyrosine Ligase Like 11) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is TTLL6.

UniProtKB/Swiss-Prot for TTLL11 Gene

  • Polyglutamase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules (PubMed:22493317). Generates long side-chains (By similarity).

Additional gene information for TTLL11 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 TTLL11 Gene

Genomics for TTLL11 Gene

GeneHancer (GH) Regulatory Elements for TTLL11 Gene

Promoters and enhancers for TTLL11 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
GH09I122092 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 562.3 +0.5 516 1.6 PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF207 TTLL11 ENSG00000261534 RABGAP1 TTLL11-IT1
GH09I122095 Enhancer 0.9 Ensembl ENCODE 550.8 -1.7 -1745 0.5 HDAC1 CTCF SAP130 ZFP64 ARID4B SIN3A CEBPG RAD21 ZBTB40 ZNF766 TTLL11 MIR4478
GH09I122346 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.9 -253.6 -253608 1.7 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZBTB40 ZSCAN9 THAP11 HMG20B MXD4 PTGS1 TTLL11 MRRF RBM18 ENSG00000229245 ENSG00000233616 GC09P122331
GH09I122125 Enhancer 1.1 Ensembl ENCODE 11.4 -32.9 -32859 2.8 ELF3 HDGF PKNOX1 ATF1 RB1 ARID4B SIN3A ZNF2 KLF5 DNMT3B TTLL11 RBM18 MRRF PTGS1 OR1K1 MIR4478 NDUFA8
GH09I122213 Enhancer 1.1 Ensembl ENCODE 10.1 -120.3 -120299 1.6 HDGF CLOCK ATF1 KLF7 ATF7 SP3 SP5 MXD4 ZNF592 MBD2 MRRF RBM18 TTLL11 LHX6 GC09P122163
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTLL11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTLL11 gene promoter:

Genomic Locations for TTLL11 Gene

Genomic Locations for TTLL11 Gene
chr9:121,815,674-122,093,606
(GRCh38/hg38)
Size:
277,933 bases
Orientation:
Minus strand
chr9:124,584,204-124,855,885
(GRCh37/hg19)

Genomic View for TTLL11 Gene

Genes around TTLL11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTLL11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTLL11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTLL11 Gene

Proteins for TTLL11 Gene

  • Protein details for TTLL11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHH1-TTL11_HUMAN
    Recommended name:
    Tubulin polyglutamylase TTLL11
    Protein Accession:
    Q8NHH1
    Secondary Accessions:
    • F8W6M1

    Protein attributes for TTLL11 Gene

    Size:
    800 amino acids
    Molecular mass:
    87612 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TTLL11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTLL11 Gene

Post-translational modifications for TTLL11 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TTLL11 Gene

Domains & Families for TTLL11 Gene

Gene Families for TTLL11 Gene

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

Protein Domains for TTLL11 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8NHH1

UniProtKB/Swiss-Prot:

TTL11_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 TTLL11: view

Function for TTLL11 Gene

Molecular function for TTLL11 Gene

UniProtKB/Swiss-Prot Function:
Polyglutamase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules (PubMed:22493317). Generates long side-chains (By similarity).

Enzyme Numbers (IUBMB) for TTLL11 Gene

Phenotypes From GWAS Catalog for TTLL11 Gene

Gene Ontology (GO) - Molecular Function for TTLL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0070740 tubulin-glutamic acid ligase activity TAS --
genes like me logo Genes that share ontologies with TTLL11: view
genes like me logo Genes that share phenotypes with TTLL11: view

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTLL11 Gene

Localization for TTLL11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTLL11 Gene

Cytoplasm, cytoskeleton, cilium basal body.

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 TTLL11 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for TTLL11 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 TTLL11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TTLL11 Gene

Pathways & Interactions for TTLL11 Gene

SuperPathways for TTLL11 Gene

No Data Available

Interacting Proteins for TTLL11 Gene

Selected Interacting proteins: Q8NHH1-TTL11_HUMAN for TTLL11 Gene via IID

Symbol External ID(s) Details
MOV10
SHMT2

Gene Ontology (GO) - Biological Process for TTLL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
GO:0018095 protein polyglutamylation IEA,TAS --
GO:0051013 microtubule severing IEA --
genes like me logo Genes that share ontologies with TTLL11: view

No data available for Pathways by source and SIGNOR curated interactions for TTLL11 Gene

Drugs & Compounds for TTLL11 Gene

No Compound Related Data Available

Transcripts for TTLL11 Gene

Unigene Clusters for TTLL11 Gene

Tubulin tyrosine ligase-like family, member 11:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTLL11 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
SP1: - - - -
SP2:
SP3: -
SP4:

Relevant External Links for TTLL11 Gene

GeneLoc Exon Structure for
TTLL11
ECgene alternative splicing isoforms for
TTLL11

Expression for TTLL11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTLL11 Gene

Protein differential expression in normal tissues from HIPED for TTLL11 Gene

This gene is overexpressed in Heart (29.3), Rectum (12.2), Peripheral blood mononuclear cells (7.8), Ovary (7.6), and Platelet (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TTLL11 Gene



NURSA nuclear receptor signaling pathways regulating expression of TTLL11 Gene:

TTLL11

SOURCE GeneReport for Unigene cluster for TTLL11 Gene:

Hs.640663

Evidence on tissue expression from TISSUES for TTLL11 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with TTLL11: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTLL11 Gene

Orthologs for TTLL11 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTLL11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTLL11 33 34
  • 97.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TTLL11 33 34
  • 86.03 (n)
cow
(Bos Taurus)
Mammalia TTLL11 33 34
  • 85.44 (n)
rat
(Rattus norvegicus)
Mammalia Ttll11 33
  • 82.52 (n)
mouse
(Mus musculus)
Mammalia Ttll11 33 16 34
  • 82.32 (n)
oppossum
(Monodelphis domestica)
Mammalia TTLL11 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTLL11 33 34
  • 77.06 (n)
lizard
(Anolis carolinensis)
Reptilia TTLL11 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttll11 33
  • 71.46 (n)
zebrafish
(Danio rerio)
Actinopterygii ttll11 33 34
  • 67.29 (n)
worm
(Caenorhabditis elegans)
Secernentea ttll-11 34
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
-- 34
  • 33 (a)
OneToMany
Species where no ortholog for TTLL11 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TTLL11 Gene

ENSEMBL:
Gene Tree for TTLL11 (if available)
TreeFam:
Gene Tree for TTLL11 (if available)

Paralogs for TTLL11 Gene

(5) SIMAP similar genes for TTLL11 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TTLL11: view

Variants for TTLL11 Gene

Sequence variations from dbSNP and Humsavar for TTLL11 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000006713 -- 121,856,506(-) T/A genic_downstream_transcript_variant, intron_variant
rs1000009527 -- 122,057,781(-) G/A/C genic_upstream_transcript_variant, intron_variant
rs1000011735 -- 121,843,935(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000015114 -- 122,082,456(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000037547 -- 121,889,579(-) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TTLL11 Gene

Variant ID Type Subtype PubMed ID
esv1064857 CNV deletion 17803354
esv1964984 CNV deletion 18987734
esv2671139 CNV deletion 23128226
esv2675052 CNV deletion 23128226
esv2739007 CNV deletion 23290073
esv2739008 CNV deletion 23290073
esv2739009 CNV deletion 23290073
esv2739010 CNV deletion 23290073
esv2739011 CNV deletion 23290073
esv2739012 CNV deletion 23290073
esv3545416 CNV deletion 23714750
esv3570 CNV loss 18987735
esv3576703 CNV gain 25503493
esv3621675 CNV loss 21293372
esv3621677 CNV loss 21293372
esv3621678 CNV loss 21293372
esv4168 CNV loss 18987735
esv997735 CNV deletion 20482838
nsv1053662 CNV gain 25217958
nsv1075267 CNV deletion 25765185
nsv1076203 CNV deletion 25765185
nsv1110059 CNV deletion 24896259
nsv1115228 CNV deletion 24896259
nsv1120964 CNV deletion 24896259
nsv1135746 CNV deletion 24896259
nsv1152113 CNV deletion 26484159
nsv1154144 CNV duplication 26484159
nsv416108 CNV deletion 16902084
nsv416918 CNV deletion 16902084
nsv474868 CNV novel sequence insertion 20440878
nsv509320 CNV insertion 20534489
nsv521251 CNV gain 19592680
nsv521711 CNV loss 19592680
nsv522145 CNV loss 19592680
nsv525442 CNV gain 19592680
nsv527192 CNV gain 19592680
nsv6701 CNV insertion 18451855
nsv819467 CNV gain 19587683
nsv831713 CNV gain 17160897
nsv831715 CNV gain 17160897
nsv950939 CNV deletion 24416366
nsv956144 CNV deletion 24416366

Variation tolerance for TTLL11 Gene

Gene Damage Index Score: 9.96; 89.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTLL11 Gene

Human Gene Mutation Database (HGMD)
TTLL11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTLL11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTLL11 Gene

Disorders for TTLL11 Gene

Additional Disease Information for TTLL11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for TTLL11 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTLL11 Gene

Publications for TTLL11 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PMID: 20583170) Letra A … Vieira AR (American journal of medical genetics. Part A 2010) 3 44 58
  3. 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 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  5. Multivalent Microtubule Recognition by Tubulin Tyrosine Ligase-like Family Glutamylases. (PMID: 25959773) Garnham CP … Roll-Mecak A (Cell 2015) 4 58

Products for TTLL11 Gene

Sources for TTLL11 Gene

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