Aliases for TTLL9 Gene

Aliases for TTLL9 Gene

  • Tubulin Tyrosine Ligase Like 9 2 3 5
  • Tubulin--Tyrosine Ligase-Like Protein 9 3 4
  • Probable Tubulin Polyglutamylase TTLL9 3 4
  • C20orf125 3 4
  • Tubulin Tyrosine Ligase-Like Family, Member 9 3
  • Tubulin Tyrosine Ligase-Like Family Member 9 2
  • Chromosome 20 Open Reading Frame 125 2
  • DJ310O13.1 2
  • EC 6.-.-.- 4
  • TTLL9 5

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 Cone-Rod Dystrophy 16 and Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is TTLL1.

UniProtKB/Swiss-Prot Summary for TTLL9 Gene

  • Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Acts when complexed with other proteins. By mediating tubulin polyglutamylation, plays a role in the establishment of microtubule heterogeneity in sperm flagella.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTLL9 Gene

Genomics for TTLL9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TTLL9 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
GH20J031879 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.4 +9.3 9265 1.8 CHD2 TBP SP1 ZBTB10 MXD4 CEBPA SIX5 NR2C1 CBX2 DEK TTLL9 TM9SF4 ASXL1 MCTS2P BAK1P1 PLAGL2 DUSP15 FOXS1 MYLK2 HSALNG0129525
GH20J031869 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 0.0 -43 1.6 MXD4 NR2C1 ZFP64 ZNF217 NONO ZIC2 THAP11 REST TRIM22 ZNF341 DUSP15 HSALNG0129525 TTLL9 ASXL1 TM9SF4 PLAGL2 BAK1P1 HSALNG0129523 FOXS1
GH20J031868 Promoter/Enhancer 0.7 Ensembl CraniofacialAtlas 250.7 -1.4 -1434 0.8 ZNF792 IKZF5 ZNF335 DUSP15 TTLL9 MYLK2 XKR7 HSALNG0129523 FOXS1
GH20J031871 Promoter 0.6 Ensembl 250.7 +0.9 867 0.2 NR2C1 ZNF664 NR2F1 ZNF548 PRDM10 DUSP15 HSALNG0129525 TTLL9 ASXL1 PDRG1
GH20J031886 Promoter 0.3 EPDnew 250.4 +15.7 15734 0.1 TTLL9 piR-46079-002 HSALNG0129525 DUSP15 PDRG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTLL9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTLL9

Top Transcription factor binding sites by QIAGEN in the TTLL9 gene promoter:
  • AhR
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • GATA-2
  • Nkx2-5
  • POU3F2
  • Spz1

Genomic Locations for TTLL9 Gene

Latest Assembly
chr20:31,870,634-31,945,000
(GRCh38/hg38)
Size:
74,367 bases
Orientation:
Plus strand

Previous Assembly
chr20:30,458,437-30,532,803
(GRCh37/hg19 by Entrez Gene)
Size:
74,367 bases
Orientation:
Plus strand

chr20:30,458,505-30,532,764
(GRCh37/hg19 by Ensembl)
Size:
74,260 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=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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for TTLL9 Gene

InterPro:
Blocks:
  • Tubulin-tyrosine ligase
ProtoNet:

Suggested Antigen Peptide Sequences for TTLL9 Gene

GenScript: Design optimal peptide antigens:
  • Tubulin tyrosine ligase-like family, member 9 (B1ANK8_HUMAN)
  • Tubulin--tyrosine ligase-like protein 9 (TTLL9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3SXZ7

UniProtKB/Swiss-Prot:

TTLL9_HUMAN :
  • Belongs to the tubulin--tyrosine ligase family.
Family:
  • Belongs to the tubulin--tyrosine ligase family.
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. Acts when complexed with other proteins. By mediating tubulin polyglutamylation, plays a role in the establishment of microtubule heterogeneity in sperm flagella.

Enzyme Numbers (IUBMB) for TTLL9 Gene

Phenotypes From GWAS Catalog for TTLL9 Gene

Gene Ontology (GO) - Molecular Function for TTLL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA --
GO:0015631 tubulin binding IBA 21873635
GO:0016874 ligase activity IEA --
GO:0070740 tubulin-glutamic acid ligase activity IBA 21873635
genes like me logo Genes that share ontologies with TTLL9: view
genes like me logo Genes that share phenotypes with TTLL9: view

Animal Models for TTLL9 Gene

MGI Knock Outs for TTLL9:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTLL9

No data available for Human Phenotype Ontology , 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
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 TTLL9 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (1)
  • Nucleoplasm (1)
See all subcellular structures

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 IBA 21873635
GO:0036064 ciliary basal body IEA --
genes like me logo Genes that share ontologies with TTLL9: view

Pathways & Interactions for TTLL9 Gene

PathCards logo

SuperPathways for TTLL9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTLL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0006464 cellular protein modification process IEA --
GO:0018095 protein polyglutamylation IEA,IBA 21873635
GO:0018215 protein phosphopantetheinylation IEA --
GO:0030317 flagellated sperm motility 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

Drugs & Compounds for TTLL9 Gene

No Compound Related Data Available

Transcripts for TTLL9 Gene

mRNA/cDNA for TTLL9 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
13 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 TTLL9

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

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 and MOPED for TTLL9 Gene



Protein tissue co-expression partners for TTLL9 Gene

- Elite partner

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

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TTLL9 30 31
  • 90.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TTLL9 30 31
  • 89.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ttll9 30
  • 86.73 (n)
Mouse
(Mus musculus)
Mammalia Ttll9 30 17 31
  • 85.61 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TTLL9 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TTLL9 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TTLL9 30 31
  • 71.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TTLL9 31
  • 75 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ttll9 30 31
  • 69.93 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10900 30
Worm
(Caenorhabditis elegans)
Secernentea ttll-9 30 31
  • 53.73 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBY1 31
  • 10 (a)
OneToMany
Species where no ortholog for TTLL9 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)
  • 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TTLL9: view image

Paralogs for TTLL9 Gene

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

  • TTLL9_HUMAN
  • B4DZ96_HUMAN
  • H9KV73_HUMAN
genes like me logo Genes that share paralogs with TTLL9: view

Variants for TTLL9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTLL9 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs17093689 - p.Tyr76Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TTLL9 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 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)

Additional Variant Information for TTLL9 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TTLL9 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TTLL9 Gene - From: COP

Disorder Aliases PubMed IDs
cone-rod dystrophy 16
  • cord16
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

Additional Disease Information for 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 … Eddé B (Science (New York, N.Y.) 2005) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4

Products for TTLL9 Gene

Sources for TTLL9 Gene