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Aliases for TTLL9 Gene

Aliases for TTLL9 Gene

  • Tubulin Tyrosine Ligase Like 9 2 3 5
  • Tubulin--Tyrosine Ligase-Like Protein 9 3 4
  • C20orf125 3 4
  • Tubulin Tyrosine Ligase-Like Family, Member 9 3
  • Tubulin Tyrosine Ligase-Like Family Member 9 2
  • Probable Tubulin Polyglutamylase TTLL9 3
  • Chromosome 20 Open Reading Frame 125 2
  • EC 6.-.-.- 4

External Ids for TTLL9 Gene

Previous HGNC Symbols for TTLL9 Gene

  • C20orf125

Previous GeneCards Identifiers for TTLL9 Gene

  • GC20P029925
  • GC20P030458
  • GC20P027247

Summaries for TTLL9 Gene

GeneCards Summary for TTLL9 Gene

TTLL9 (Tubulin Tyrosine Ligase Like 9) is a Protein Coding gene. Diseases associated with TTLL9 include Primary Ciliary Dyskinesia. GO annotations related to this gene include ligase activity. An important paralog of this gene is TTLL1.

UniProtKB/Swiss-Prot for TTLL9 Gene

  • Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTLL9 Gene

Genomics for TTLL9 Gene

Regulatory Elements for TTLL9 Gene

Enhancers for TTLL9 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
GH20F031917 0.6 Ensembl ENCODE 17.1 +47.6 47594 0.6 HDAC1 ATF1 PKNOX1 TBL1XR1 ARNT ZBTB40 GATA2 ZBTB11 NCOA1 CEBPB DUSP15 TTLL9 XKR7 MYLK2 CCM2L RNA5SP481 PIR40015 PIR41147
GH20F031840 0.8 Ensembl ENCODE 11.9 -26.7 -26668 6.6 HDGF YBX3 CBX3 PKNOX1 YBX1 PLRG1 ZNF48 ZBTB40 RAD21 ZNF155 MYLK2 BAK1P1 REM1 TTLL9 DUSP15 XKR7 POFUT1 PLAGL2 HM13 COX4I2
GH20F031835 1 Ensembl ENCODE 11.6 -33.1 -33051 4.7 ARID4B DMAP1 GLIS2 CBX5 GATA2 FOS JUNB REST TSHZ1 SMARCB1 DUSP15 TTLL9 XKR7 TM9SF4 HM13 GC20M031845 MYLK2
GH20F031841 0.4 ENCODE 11.6 -30.3 -30327 0.1 BCOR SMARCA5 CBX3 ESRRA ZMYM3 CBX1 HDAC2 ADNP KDM1A DUSP15 TTLL9 XKR7 GC20M031845 MYLK2
GH20F031809 0.8 Ensembl ENCODE 11.2 -59.2 -59156 3.6 HDAC1 ESRRA ATF1 JUN KLF17 ZIC2 HIC1 GATA2 ZSCAN29 NR2F6 DUSP15 TTLL9 XKR7 TPX2 TM9SF4 COX4I2 ENSG00000230801 MYLK2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TTLL9 on UCSC Golden Path with GeneCards custom track

Promoters for TTLL9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001836662 -202 1001 HDGF PKNOX1 ZFP64 INSM2 KLF17 ARID4B ZNF48 ZBTB40 RARA ZNF121

Genomic Location for TTLL9 Gene

Chromosome:
20
Start:
31,870,702 bp from pter
End:
31,944,963 bp from pter
Size:
74,262 bases
Orientation:
Plus strand

Genomic View for TTLL9 Gene

Genes around TTLL9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTLL9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTLL9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTLL9 Gene

Proteins for TTLL9 Gene

  • Protein details for TTLL9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SXZ7-TTLL9_HUMAN
    Recommended name:
    Probable tubulin polyglutamylase TTLL9
    Protein Accession:
    Q3SXZ7
    Secondary Accessions:
    • A6NH06
    • A6NIS5
    • B3KSG8
    • Q3SXZ8
    • Q5JYS3
    • Q5JYS4

    Protein attributes for TTLL9 Gene

    Size:
    439 amino acids
    Molecular mass:
    51472 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI42576.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI42577.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW76401.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TTLL9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTLL9 Gene

Post-translational modifications for TTLL9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TTLL9 Gene

Domains & Families for TTLL9 Gene

Gene Families for TTLL9 Gene

Protein Domains for TTLL9 Gene

Suggested Antigen Peptide Sequences for TTLL9 Gene

Graphical View of Domain Structure for InterPro Entry

Q3SXZ7

UniProtKB/Swiss-Prot:

TTLL9_HUMAN :
  • Contains 1 TTL domain.
Domain:
  • Contains 1 TTL domain.
genes like me logo Genes that share domains with TTLL9: view

Function for TTLL9 Gene

Molecular function for TTLL9 Gene

UniProtKB/Swiss-Prot Function:
Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity).

Enzyme Numbers (IUBMB) for TTLL9 Gene

Gene Ontology (GO) - Molecular Function for TTLL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with TTLL9: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTLL9 Gene

Localization for TTLL9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTLL9 Gene

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTLL9 Gene COMPARTMENTS Subcellular localization image for TTLL9 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TTLL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with TTLL9: view

Pathways & Interactions for TTLL9 Gene

SuperPathways for TTLL9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTLL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
genes like me logo Genes that share ontologies with TTLL9: view

No data available for Pathways by source and SIGNOR curated interactions for TTLL9 Gene

Transcripts for TTLL9 Gene

Unigene Clusters for TTLL9 Gene

Tubulin tyrosine ligase-like family, member 9:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTLL9 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6:

Relevant External Links for TTLL9 Gene

GeneLoc Exon Structure for
TTLL9
ECgene alternative splicing isoforms for
TTLL9

Expression for TTLL9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTLL9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTLL9 Gene

This gene is overexpressed in Testis (x9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TTLL9 Gene



Protein tissue co-expression partners for TTLL9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTLL9 Gene:

TTLL9

SOURCE GeneReport for Unigene cluster for TTLL9 Gene:

Hs.712915
genes like me logo Genes that share expression patterns with TTLL9: view

Primer Products

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TTLL9 Gene

Orthologs for TTLL9 Gene

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

Orthologs for TTLL9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTLL9 34 35
  • 99.16 (n)
cow
(Bos Taurus)
Mammalia TTLL9 34 35
  • 90.49 (n)
dog
(Canis familiaris)
Mammalia TTLL9 34 35
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Ttll9 34
  • 86.73 (n)
mouse
(Mus musculus)
Mammalia Ttll9 34 16 35
  • 85.61 (n)
oppossum
(Monodelphis domestica)
Mammalia TTLL9 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTLL9 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTLL9 34 35
  • 71.89 (n)
lizard
(Anolis carolinensis)
Reptilia TTLL9 35
  • 75 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ttll9 34 35
  • 69.93 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10900 34
worm
(Caenorhabditis elegans)
Secernentea ttll-9 34 35
  • 53.73 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBY1 35
  • 10 (a)
OneToMany
Species where no ortholog for TTLL9 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for TTLL9 Gene

ENSEMBL:
Gene Tree for TTLL9 (if available)
TreeFam:
Gene Tree for TTLL9 (if available)

Paralogs for TTLL9 Gene

(3) SIMAP similar genes for TTLL9 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TTLL9: view

Variants for TTLL9 Gene

Sequence variations from dbSNP and Humsavar for TTLL9 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs10485497 -- 31,882,167(+) TACCG(C/T)GTGTT intron-variant
rs10582768 -- 31,894,742(+) ACACA(-/CACA)TACGT intron-variant
rs10582769 -- 31,894,755(+) TACAC(-/ACAC)TTTAT intron-variant
rs10612186 -- 31,889,056(+) ACACA(-/AC)CACAC intron-variant
rs10664855 -- 31,889,038(+) ACACA(-/CA)TATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTLL9 Gene

Variant ID Type Subtype PubMed ID
dgv4300n100 CNV gain 25217958
esv21897 CNV gain 19812545
esv3645658 CNV gain 21293372
nsv3347 CNV insertion 18451855
nsv517635 CNV gain 19592680
nsv585912 CNV loss 21841781
nsv817890 CNV gain 17921354
nsv833952 CNV gain 17160897

Variation tolerance for TTLL9 Gene

Residual Variation Intolerance Score: 93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.24; 52.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTLL9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTLL9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTLL9 Gene

Disorders for TTLL9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TTLL9 Gene - From: DISEASES

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards
Search TTLL9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TTLL9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTLL9
genes like me logo Genes that share disorders with TTLL9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTLL9 Gene

Publications for TTLL9 Gene

  1. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. (PMID: 15890843) Janke C. … Edde B. (Science 2005) 2 3 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 4 64

Products for TTLL9 Gene

Sources for TTLL9 Gene

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