Aliases for TTLL12 Gene

Aliases for TTLL12 Gene

  • Tubulin Tyrosine Ligase Like 12 2 3 5
  • Inactive Tubulin--Tyrosine Ligase-Like Protein 12 3 4
  • Tubulin--Tyrosine Ligase-Like Protein 12 3 4
  • Tubulin Tyrosine Ligase-Like Family, Member 12 3
  • Tubulin Tyrosine Ligase-Like Family Member 12 2
  • DJ526I14.2 3
  • KIAA0153 4

External Ids for TTLL12 Gene

Previous GeneCards Identifiers for TTLL12 Gene

  • GC22M041888
  • GC22M043562
  • GC22M026520
  • GC22M043170
  • GC22M043543
  • GC22M043542
  • GC22M043482
  • GC22M043275

Summaries for TTLL12 Gene

GeneCards Summary for TTLL12 Gene

TTLL12 (Tubulin Tyrosine Ligase Like 12) is a Protein Coding gene. Diseases associated with TTLL12 include Acute Closed-Angle Glaucoma and Orofaciodigital Syndrome Viii. An important paralog of this gene is TTLL13P.

UniProtKB/Swiss-Prot Summary for TTLL12 Gene

  • Negatively regulates post-translational modifications of tubulin, including detyrosination of the C-terminus and polyglutamylation of glutamate residues (PubMed:20162578, PubMed:23251473). Also, indirectly promotes histone H4 trimethylation at 'Lys-20' (H4K20me3) (PubMed:23251473). Probably by controlling tubulin and/or histone H4 post-translational modifications, plays a role in mitosis and in maintaining chromosome number stability (PubMed:20162578, PubMed:23251473). During RNA virus-mediated infection, acts as a negative regulator of the DDX58/RIG-I pathway by preventing MAVS binding to TBK1 and IKBKE (PubMed:28011935).

Additional gene information for TTLL12 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTLL12 Gene

Genomics for TTLL12 Gene

GeneHancer (GH) Regulatory Elements for TTLL12 Gene

Promoters and enhancers for TTLL12 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
GH22J043185 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 533.3 +0.1 133 3.2 ZBTB40 ZNF217 EP300 CTCF NRF1 MYC POLR2G USF1 SP1 PHF8 TTLL12 lnc-SCUBE1-4 lnc-SCUBE1-3
GH22J043188 Enhancer 0.2 dbSUPER 500.7 -1.9 -1862 0.5 RF00017-3865 TTLL12 lnc-SCUBE1-4
GH22J043182 Enhancer 1.1 ENCODE dbSUPER 26.9 +3.3 3310 2.5 PHB2 ZBTB11 REST MYC CTBP1 NCOR1 NFRKB KDM5B NEUROD1 ZNF282 TTLL12 ENSG00000236272 MCAT lnc-SCUBE1-4 lnc-SCUBE1-3
GH22J043197 Enhancer 0.8 Ensembl ENCODE 21.9 -10.4 -10370 2.2 FOS CTCF FOXA2 FOSL1 FOSL2 HIC1 ZBTB33 JUND ATF3 THAP1 lnc-SCUBE1-2 TTLL12 ENSG00000236272 RF00017-3865 SCUBE1
GH22J043226 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.5 -40.0 -39967 2.6 CTCF ZIC2 GABPA MYC ZNF654 EGR1 SIN3A RAD21 SMARCA4 FOS TTLL12 ENSG00000203527 SCUBE1 MCAT MPPED1 ENSG00000234892 ENSG00000236272
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTLL12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTLL12

Top Transcription factor binding sites by QIAGEN in the TTLL12 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • E47
  • FOXL1
  • HNF-4alpha1
  • MAZR
  • p53
  • Pax-2
  • Pax-2a

Genomic Locations for TTLL12 Gene

Genomic Locations for TTLL12 Gene
chr22:43,166,622-43,187,134
(GRCh38/hg38)
Size:
20,513 bases
Orientation:
Minus strand
chr22:43,562,628-43,583,139
(GRCh37/hg19)
Size:
20,512 bases
Orientation:
Minus strand

Genomic View for TTLL12 Gene

Genes around TTLL12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTLL12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTLL12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTLL12 Gene

Proteins for TTLL12 Gene

  • Protein details for TTLL12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14166-TTL12_HUMAN
    Recommended name:
    Tubulin--tyrosine ligase-like protein 12
    Protein Accession:
    Q14166
    Secondary Accessions:
    • Q20WK5
    • Q9UGU3

    Protein attributes for TTLL12 Gene

    Size:
    644 amino acids
    Molecular mass:
    74404 Da
    Quaternary structure:
    • Interacts with MAVS; the interaction prevents MAVS binding to TBK1 and IKBKE (PubMed:28011935). Interacts (via N-terminus) with TBK1 (via protein kinase domain) (PubMed:28011935). Interacts (via TTL domain) with IKBKE (via protein kinase domain) (PubMed:28011935). Interacts with tubulin alpha (PubMed:23251473). Interacts with histone H3 and histone H4 (when trimethylated at 'Lys-20' (H4K20me3)) (PubMed:23251473). Interacts with CBX3 (PubMed:23251473).

neXtProt entry for TTLL12 Gene

Post-translational modifications for TTLL12 Gene

  • Ubiquitination at Lys88, Lys342, Lys346, Lys368, Lys419, and Lys433
  • Modification sites at PhosphoSitePlus

Other Protein References for TTLL12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TTLL12 Gene

Domains & Families for TTLL12 Gene

Gene Families for TTLL12 Gene

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

Protein Domains for TTLL12 Gene

Blocks:
  • Tubulin-tyrosine ligase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TTLL12 Gene

GenScript: Design optimal peptide antigens:
  • Tubulin--tyrosine ligase-like protein 12 (TTL12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14166

UniProtKB/Swiss-Prot:

TTL12_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 TTLL12: view

Function for TTLL12 Gene

Molecular function for TTLL12 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates post-translational modifications of tubulin, including detyrosination of the C-terminus and polyglutamylation of glutamate residues (PubMed:20162578, PubMed:23251473). Also, indirectly promotes histone H4 trimethylation at 'Lys-20' (H4K20me3) (PubMed:23251473). Probably by controlling tubulin and/or histone H4 post-translational modifications, plays a role in mitosis and in maintaining chromosome number stability (PubMed:20162578, PubMed:23251473). During RNA virus-mediated infection, acts as a negative regulator of the DDX58/RIG-I pathway by preventing MAVS binding to TBK1 and IKBKE (PubMed:28011935).

Phenotypes From GWAS Catalog for TTLL12 Gene

Gene Ontology (GO) - Molecular Function for TTLL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004835 NOT tubulin-tyrosine ligase activity IDA 23251473
GO:0005515 protein binding IPI 23251473
GO:0005524 ATP binding IEA --
GO:0015631 tubulin binding IDA 23251473
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with TTLL12: view
genes like me logo Genes that share phenotypes with TTLL12: view

Animal Model Products

CRISPR Products

miRNA for TTLL12 Gene

miRTarBase miRNAs that target TTLL12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTLL12

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTLL12 Gene

Localization for TTLL12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTLL12 Gene

Cytoplasm. Midbody. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Nucleus. Note=Predominantly localizes in the cytoplasm (PubMed:28011935). Partially colocalizes with vimentin in prostate cancer cells (PubMed:20162578). {ECO:0000269 PubMed:20162578, ECO:0000269 PubMed:28011935}.

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 TTLL12 gene
Compartment Confidence
nucleus 4
cytoskeleton 3
cytosol 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TTLL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 28011935
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with TTLL12: view

Pathways & Interactions for TTLL12 Gene

PathCards logo

SuperPathways for TTLL12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTLL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006464 cellular protein modification process IEA --
GO:0007346 regulation of mitotic cell cycle IMP 23251473
GO:0034968 histone lysine methylation IEA --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with TTLL12: view

No data available for Pathways by source and SIGNOR curated interactions for TTLL12 Gene

Drugs & Compounds for TTLL12 Gene

No Compound Related Data Available

Transcripts for TTLL12 Gene

mRNA/cDNA for TTLL12 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTLL12

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTLL12 Gene

No ASD Table

Relevant External Links for TTLL12 Gene

GeneLoc Exon Structure for
TTLL12

Expression for TTLL12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTLL12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTLL12 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.9).

Protein differential expression in normal tissues from HIPED for TTLL12 Gene

This gene is overexpressed in Lymph node (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TTLL12 Gene



Protein tissue co-expression partners for TTLL12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTLL12

SOURCE GeneReport for Unigene cluster for TTLL12 Gene:

Hs.517670

mRNA Expression by UniProt/SwissProt for TTLL12 Gene:

Q14166-TTL12_HUMAN
Tissue specificity: Expressed in the basal layer of prostate and endothelial cells. Increased expression in prostatic intraepithelial neoplasia and metastatic lesions.

Evidence on tissue expression from TISSUES for TTLL12 Gene

  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with TTLL12: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TTLL12 Gene

Orthologs for TTLL12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TTLL12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTLL12 31 30
  • 99.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTLL12 31 30
  • 87.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TTLL12 31 30
  • 87.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ttll12 17 31 30
  • 85.6 (n)
rat
(Rattus norvegicus)
Mammalia Ttll12 30
  • 85.13 (n)
oppossum
(Monodelphis domestica)
Mammalia TTLL12 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves TTLL12 31 30
  • 71.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTLL12 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486512 30
  • 71.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4575 30
zebrafish
(Danio rerio)
Actinopterygii ttll12 31 30
  • 64.74 (n)
OneToOne
zgc55343 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004284 30
  • 55.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1550 31 30
  • 53.75 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ttll-12 31 30
  • 46.72 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G77550 30
  • 49.49 (n)
rice
(Oryza sativa)
Liliopsida Os03g0179000 30
  • 50.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 49 (a)
OneToOne
Species where no ortholog for TTLL12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TTLL12 Gene

ENSEMBL:
Gene Tree for TTLL12 (if available)
TreeFam:
Gene Tree for TTLL12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTLL12: view image

Paralogs for TTLL12 Gene

Pseudogenes.org Pseudogenes for TTLL12 Gene

genes like me logo Genes that share paralogs with TTLL12: view

Variants for TTLL12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTLL12 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
717125 Benign: not provided 43,171,855(-) C/T SYNONYMOUS_VARIANT
722868 Likely Benign: not provided 43,168,089(-) G/A SYNONYMOUS_VARIANT
722869 Likely Benign: not provided 43,179,917(-) G/A SYNONYMOUS_VARIANT
727507 Benign: not provided 43,174,295(-) G/A SYNONYMOUS_VARIANT
729653 Likely Benign: not provided 43,173,769(-) G/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TTLL12 Gene

Structural Variations from Database of Genomic Variants (DGV) for TTLL12 Gene

Variant ID Type Subtype PubMed ID
dgv844e214 CNV gain 21293372
esv2762124 CNV gain 21179565
esv33816 CNV gain 17666407
esv3647857 CNV loss 21293372
nsv1072641 CNV deletion 25765185
nsv1144974 CNV deletion 24896259
nsv459890 CNV gain 19166990
nsv471201 CNV loss 18288195
nsv520927 CNV loss 19592680
nsv589087 CNV gain 21841781
nsv834214 CNV gain 17160897
nsv834216 CNV loss 17160897

Variation tolerance for TTLL12 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.79; 93.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTLL12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTLL12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTLL12 Gene

Disorders for TTLL12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TTLL12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
acute closed-angle glaucoma
  • acute angle-closure glaucoma
orofaciodigital syndrome viii
  • cleft lip/palate with abnormal thumbs and microcephaly
prostate cancer
  • prostate cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TTLL12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TTLL12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTLL12 Gene

Publications for TTLL12 Gene

  1. TTLL12 Inhibits the Activation of Cellular Antiviral Signaling through Interaction with VISA/MAVS. (PMID: 28011935) Ju LG … Wu M (Journal of immunology (Baltimore, Md. : 1950) 2017) 3 4 54
  2. Tubulin tyrosine ligase like 12, a TTLL family member with SET- and TTL-like domains and roles in histone and tubulin modifications and mitosis. (PMID: 23251473) Brants J … Wasylyk B (PloS one 2012) 3 4 54
  3. Tubulin tyrosine ligase like 12 links to prostate cancer through tubulin posttranslational modification and chromosome ploidy. (PMID: 20162578) Wasylyk C … Wasylyk B (International journal of cancer 2010) 3 4 54
  4. 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 54
  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) 3 4 54

Products for TTLL12 Gene

Sources for TTLL12 Gene