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Aliases for TTLL1 Gene

Aliases for TTLL1 Gene

  • Tubulin Tyrosine Ligase Like 1 2 3 5
  • Tubulin Polyglutamylase Complex Subunit 3 3 4
  • Tubulin--Tyrosine Ligase-Like Protein 1 3 4
  • C22orf7 3 4
  • PGs3 3 4
  • Catalytic Subunit Of Neural Tubulin Polyglutamylase 3
  • Tubulin Tyrosine Ligase-Like Family, Member 1 3
  • Tubulin Tyrosine Ligase-Like Family Member 1 2
  • Probable Tubulin Polyglutamylase TTLL1 3
  • Tubulin Tyrosine Ligase-Like 1 2
  • Tubulin-Tyrosine Ligase 3
  • EC 6.-.-.- 4
  • HS323M22B 3

External Ids for TTLL1 Gene

Previous HGNC Symbols for TTLL1 Gene

  • C22orf7

Previous GeneCards Identifiers for TTLL1 Gene

  • GC22M040037
  • GC22M041666
  • GC22M041760
  • GC22M041765
  • GC22M043414
  • GC22M026394

Summaries for TTLL1 Gene

GeneCards Summary for TTLL1 Gene

TTLL1 (Tubulin Tyrosine Ligase Like 1) is a Protein Coding gene. GO annotations related to this gene include tubulin-glutamic acid ligase activity. An important paralog of this gene is TTLL9.

UniProtKB/Swiss-Prot for TTLL1 Gene

  • Catalytic subunit of the neuronal tubulin polyglutamylase complex. Modifies alpha- and beta-tubulin, generating side chains of glutamate on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin (By similarity).

Gene Wiki entry for TTLL1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTLL1 Gene

Genomics for TTLL1 Gene

Regulatory Elements for TTLL1 Gene

Enhancers for TTLL1 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
GH22F043066 1.2 Ensembl ENCODE 13 +21.9 21926 1.4 PKNOX1 KLF17 ZNF2 ZEB1 GTF3C2 ZNF121 GLIS2 ZNF366 FOS CREM TTLL1 RPS25P10 RN7SKP80 BIK ENSG00000273366 A4GALT MCAT RPL5P34 ENSG00000233903 OGFRP1
GH22F043024 1.1 FANTOM5 Ensembl 7.6 +64.2 64228 1.2 KLF1 MXI1 ZMYM3 ZNF223 KLF17 MAX ZNF384 ZIC2 ZNF23 ZFHX2 PACSIN2 TTLL1 LOC100506679
GH22F043035 1 Ensembl ENCODE 7.7 +53.0 53015 1.2 KLF1 PKNOX1 JUN KLF17 YBX1 ZIC2 ZNF121 ZNF366 PATZ1 ZNF639 PACSIN2 TTLL1 ARFGAP3 LOC100506679
GH22F043033 1.1 Ensembl ENCODE 6.8 +55.6 55555 1.1 CTCF MXI1 SAP130 WRNIP1 ARID4B DMAP1 ZNF2 RAD21 ZNF121 ZBTB48 TTLL1 LOC100506679 PACSIN2
GH22F043088 1.1 ENCODE 6.5 -0.2 -213 2.1 ARID4B SIN3A DMAP1 ZNF2 ZNF207 ZNF143 KLF13 ZNF263 SP3 SP5 RN7SKP80 RPL5P34 ENSG00000273366 ENSG00000233903 OGFRP1 TTLL1 GC22P043090
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTLL1 on UCSC Golden Path with GeneCards custom track

Promoters for TTLL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000619140 227 1600 ATF1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 GLIS2 ZNF207 ZNF143 KLF7

Genomic Location for TTLL1 Gene

Chromosome:
22
Start:
43,039,516 bp from pter
End:
43,089,428 bp from pter
Size:
49,913 bases
Orientation:
Minus strand

Genomic View for TTLL1 Gene

Genes around TTLL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTLL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTLL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTLL1 Gene

Proteins for TTLL1 Gene

  • Protein details for TTLL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95922-TTLL1_HUMAN
    Recommended name:
    Probable tubulin polyglutamylase TTLL1
    Protein Accession:
    O95922
    Secondary Accessions:
    • B2RDS7
    • Q9BR27
    • Q9NRS9
    • Q9UMU0

    Protein attributes for TTLL1 Gene

    Size:
    423 amino acids
    Molecular mass:
    48988 Da
    Quaternary structure:
    • Part of the neuronal tubulin polyglutamylase complex which contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1.
    SequenceCaution:
    • Sequence=CAB51423.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTLL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTLL1 Gene

Post-translational modifications for TTLL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TTLL1 Gene

Domains & Families for TTLL1 Gene

Gene Families for TTLL1 Gene

Protein Domains for TTLL1 Gene

Suggested Antigen Peptide Sequences for TTLL1 Gene

Graphical View of Domain Structure for InterPro Entry

O95922

UniProtKB/Swiss-Prot:

TTLL1_HUMAN :
  • Contains 1 TTL domain.
  • Belongs to the tubulin polyglutamylase family.
Domain:
  • Contains 1 TTL domain.
Family:
  • Belongs to the tubulin polyglutamylase family.
genes like me logo Genes that share domains with TTLL1: view

Function for TTLL1 Gene

Molecular function for TTLL1 Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of the neuronal tubulin polyglutamylase complex. Modifies alpha- and beta-tubulin, generating side chains of glutamate on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin (By similarity).

Enzyme Numbers (IUBMB) for TTLL1 Gene

Gene Ontology (GO) - Molecular Function for TTLL1 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 15890843
genes like me logo Genes that share ontologies with TTLL1: view
genes like me logo Genes that share phenotypes with TTLL1: view

Animal Models for TTLL1 Gene

MGI Knock Outs for TTLL1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TTLL1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TTLL1 Gene

Localization for TTLL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTLL1 Gene

Cytoplasm, cytoskeleton.

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 TTLL1 gene
Compartment Confidence
cytoskeleton 4
mitochondrion 3
cytosol 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TTLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with TTLL1: view

Pathways & Interactions for TTLL1 Gene

SuperPathways for TTLL1 Gene

No Data Available

Interacting Proteins for TTLL1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000266254%0d%0a9606.ENSP00000280665%0d%0a9606.ENSP00000472469%0d%0a9606.ENSP00000313171%0d%0a9606.ENSP00000452549%0d%0a9606.ENSP00000357218%0d%0a
Selected Interacting proteins: ENSP00000266254 O95922-TTLL1_HUMAN for TTLL1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TTLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003351 epithelial cilium movement IEA --
GO:0006464 cellular protein modification process IEA --
GO:0007288 sperm axoneme assembly IEA --
GO:0018095 protein polyglutamylation IEA,TAS 15890843
GO:0035082 axoneme assembly IEA --
genes like me logo Genes that share ontologies with TTLL1: view

No data available for Pathways by source and SIGNOR curated interactions for TTLL1 Gene

Transcripts for TTLL1 Gene

Unigene Clusters for TTLL1 Gene

Tubulin tyrosine ligase-like family, member 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTLL1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c
SP1: -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: - -
SP6: - - - - - - - - -
SP7: -
SP8: - -

Relevant External Links for TTLL1 Gene

GeneLoc Exon Structure for
TTLL1
ECgene alternative splicing isoforms for
TTLL1

Expression for TTLL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTLL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of TTLL1 Gene:

TTLL1

SOURCE GeneReport for Unigene cluster for TTLL1 Gene:

Hs.660298

mRNA Expression by UniProt/SwissProt for TTLL1 Gene:

O95922-TTLL1_HUMAN
Tissue specificity: Expressed in a wide range of tissues. Has a stronger expression in heart, brain and testis.
genes like me logo Genes that share expression patterns with TTLL1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for TTLL1 Gene

Orthologs for TTLL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TTLL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTLL1 34 35
  • 99.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TTLL1 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTLL1 34 35
  • 90.46 (n)
cow
(Bos Taurus)
Mammalia TTLL1 34 35
  • 89.28 (n)
mouse
(Mus musculus)
Mammalia Ttll1 34 16 35
  • 86.68 (n)
rat
(Rattus norvegicus)
Mammalia Ttll1 34
  • 86.52 (n)
oppossum
(Monodelphis domestica)
Mammalia TTLL1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTLL1 34 35
  • 78.96 (n)
lizard
(Anolis carolinensis)
Reptilia TTLL1 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttll1 34
  • 77.83 (n)
zebrafish
(Danio rerio)
Actinopterygii ttll1 34 35
  • 77.41 (n)
zgc63993 34
fruit fly
(Drosophila melanogaster)
Insecta CG7474 36
  • 67 (a)
CG32238 34 35
  • 63.9 (n)
CG8918 36 35
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010336 34
  • 63.66 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBY1 35
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4984 35
  • 77 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11289 34
Species where no ortholog for TTLL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TTLL1 Gene

ENSEMBL:
Gene Tree for TTLL1 (if available)
TreeFam:
Gene Tree for TTLL1 (if available)

Paralogs for TTLL1 Gene

(6) SIMAP similar genes for TTLL1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for TTLL1 Gene

genes like me logo Genes that share paralogs with TTLL1: view

Variants for TTLL1 Gene

Sequence variations from dbSNP and Humsavar for TTLL1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs10222297 -- 43,072,148(+) ATTTT(C/G)TTTTT intron-variant
rs1040431 -- 43,060,677(+) TGCCA(C/G)TTCTG intron-variant
rs10427606 -- 43,061,856(+) TACTC(A/G)TGCTT intron-variant
rs10427660 -- 43,079,502(+) CCACA(A/G)CTGTG intron-variant
rs1052160 -- 43,063,840(-) CATCT(C/T)ACCAA nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for TTLL1 Gene

Variant ID Type Subtype PubMed ID
dgv836e199 CNV deletion 23128226
esv1431679 CNV deletion 17803354
esv1508177 CNV deletion 17803354
esv2663131 CNV deletion 23128226
esv2724296 CNV deletion 23290073
esv2724297 CNV deletion 23290073
esv2724298 CNV deletion 23290073
esv2762124 CNV gain 21179565
esv28713 CNV loss 19812545
esv3647851 CNV loss 21293372
esv3647852 CNV loss 21293372
esv3893488 CNV loss 25118596
nsv1061240 CNV gain 25217958
nsv1065671 CNV gain 25217958
nsv1114326 CNV deletion 24896259
nsv3645 CNV insertion 18451855
nsv459889 CNV gain 19166990
nsv589085 CNV gain 21841781
nsv829259 CNV loss 20364138
nsv834213 CNV loss 17160897
nsv834214 CNV gain 17160897

Variation tolerance for TTLL1 Gene

Residual Variation Intolerance Score: 22.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTLL1 Gene

Human Gene Mutation Database (HGMD)
TTLL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTLL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTLL1 Gene

Disorders for TTLL1 Gene

Relevant External Links for TTLL1

Genetic Association Database (GAD)
TTLL1
Human Genome Epidemiology (HuGE) Navigator
TTLL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTLL1

No disorders were found for TTLL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTLL1 Gene

Publications for TTLL1 Gene

  1. Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1. (PMID: 11054573) Trichet V. … De Sario A. (Gene 2000) 2 3 4 22 64
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation. (PMID: 20564319) Kim S.T. … Sun J. (Prostate 2010) 3 46 64
  5. Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. (PMID: 19767753) Eeles R.A. … Easton D.F. (Nat. Genet. 2009) 3 46 64

Products for TTLL1 Gene

Sources for TTLL1 Gene

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