Aliases for TTLL4 Gene

Aliases for TTLL4 Gene

  • Tubulin Tyrosine Ligase Like 4 2 3 5
  • Tubulin--Tyrosine Ligase-Like Protein 4 3 4
  • Tubulin Polyglutamylase TTLL4 3 4
  • KIAA0173 2 4
  • Tubulin Tyrosine Ligase-Like Family, Member 4 3
  • Tubulin Tyrosine Ligase-Like Family Member 4 2
  • EC 6.-.-.- 4
  • TTLL4 5

External Ids for TTLL4 Gene

Previous GeneCards Identifiers for TTLL4 Gene

  • GC02P219779
  • GC02P219401
  • GC02P219283
  • GC02P219575
  • GC02P211428

Summaries for TTLL4 Gene

GeneCards Summary for TTLL4 Gene

TTLL4 (Tubulin Tyrosine Ligase Like 4) is a Protein Coding gene. Diseases associated with TTLL4 include Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease and Fundus Dystrophy. Gene Ontology (GO) annotations related to this gene include ligase activity and tubulin binding. An important paralog of this gene is TTLL6.

UniProtKB/Swiss-Prot Summary for TTLL4 Gene

  • Glutamylase which preferentially modifies beta-tubulin and non-tubulin proteins, such as NAP1L1, NAP1L4 and CGAS. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step. Involved in formation of short side-chains. Mediates initiation of polyglutamylation of nucleosome assembly proteins NAP1L1 and NAP1L4. Also acts as a monoglutamylase: generates monoglutamylation of CGAS, leading to impair the nucleotidyltransferase activity of CGAS.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTLL4 Gene

Genomics for TTLL4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TTLL4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTLL4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTLL4

Top Transcription factor binding sites by QIAGEN in the TTLL4 gene promoter:
  • AML1a
  • CREB
  • Evi-1
  • Gfi-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Pax-4a
  • Pax-5

Genomic Locations for TTLL4 Gene

Latest Assembly
chr2:218,710,835-218,757,484
(GRCh38/hg38)
Size:
46,650 bases
Orientation:
Plus strand

Previous Assembly
chr2:219,575,558-219,620,139
(GRCh37/hg19 by Entrez Gene)
Size:
44,582 bases
Orientation:
Plus strand

chr2:219,575,568-219,620,139
(GRCh37/hg19 by Ensembl)
Size:
44,572 bases
Orientation:
Plus strand

Genomic View for TTLL4 Gene

Genes around TTLL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTLL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTLL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTLL4 Gene

Proteins for TTLL4 Gene

  • Protein details for TTLL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14679-TTLL4_HUMAN
    Recommended name:
    Tubulin polyglutamylase TTLL4
    Protein Accession:
    Q14679
    Secondary Accessions:
    • A8K6V5
    • Q8WW29

    Protein attributes for TTLL4 Gene

    Size:
    1199 amino acids
    Molecular mass:
    133378 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA11490.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TTLL4 Gene

neXtProt entry for TTLL4 Gene

Post-translational modifications for TTLL4 Gene

  • Ubiquitination at Lys688
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTLL4 Gene

Domains & Families for TTLL4 Gene

Gene Families for TTLL4 Gene

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

Protein Domains for TTLL4 Gene

InterPro:
Blocks:
  • Tubulin-tyrosine ligase

Suggested Antigen Peptide Sequences for TTLL4 Gene

GenScript: Design optimal peptide antigens:
  • Tubulin--tyrosine ligase-like protein 4 (TTLL4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14679

UniProtKB/Swiss-Prot:

TTLL4_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 TTLL4: view

Function for TTLL4 Gene

Molecular function for TTLL4 Gene

UniProtKB/Swiss-Prot Function:
Glutamylase which preferentially modifies beta-tubulin and non-tubulin proteins, such as NAP1L1, NAP1L4 and CGAS. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step. Involved in formation of short side-chains. Mediates initiation of polyglutamylation of nucleosome assembly proteins NAP1L1 and NAP1L4. Also acts as a monoglutamylase: generates monoglutamylation of CGAS, leading to impair the nucleotidyltransferase activity of CGAS.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-glutamate + L-glutamyl-[protein] = ADP + H(+) + L-gamma-glutamyl-L-glutamyl-[protein] + phosphate; Xref=Rhea:RHEA:60144, Rhea:RHEA-COMP:10208, Rhea:RHEA-COMP:15517, ChEBI:CHEBI:15378, ChEBI:CHEBI:29973, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:143622, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:Q80UG8};.

Enzyme Numbers (IUBMB) for TTLL4 Gene

Phenotypes From GWAS Catalog for TTLL4 Gene

Gene Ontology (GO) - Molecular Function for TTLL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA --
GO:0015631 tubulin binding ISS 21074048
GO:0016874 ligase activity IEA --
GO:0070739 protein-glutamic acid ligase activity ISS --
genes like me logo Genes that share ontologies with TTLL4: view
genes like me logo Genes that share phenotypes with TTLL4: view

Animal Models for TTLL4 Gene

MGI Knock Outs for TTLL4:
  • Ttll4 Ttll4<tm1a(EUCOMM)Wtsi>

miRNA for TTLL4 Gene

miRTarBase miRNAs that target TTLL4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTLL4

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TTLL4 Gene

Localization for TTLL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTLL4 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Located in cilia. In some cells, also found in basal bodies. {ECO:0000250 UniProtKB:Q80UG8}.

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 TTLL4 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 3
mitochondrion 2
plasma membrane 1
extracellular 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TTLL4 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 IBA 21873635
genes like me logo Genes that share ontologies with TTLL4: view

Pathways & Interactions for TTLL4 Gene

PathCards logo

SuperPathways for TTLL4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTLL4 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,TAS --
GO:0018200 peptidyl-glutamic acid modification ISS --
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with TTLL4: view

No data available for Pathways by source and SIGNOR curated interactions for TTLL4 Gene

Drugs & Compounds for TTLL4 Gene

No Compound Related Data Available

Transcripts for TTLL4 Gene

mRNA/cDNA for TTLL4 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
21 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 TTLL4

Alternative Splicing Database (ASD) splice patterns (SP) for TTLL4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - - - -
SP6:
SP7: - -
SP8: -
SP9: - - - -
SP10:

ExUns: 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:

Relevant External Links for TTLL4 Gene

GeneLoc Exon Structure for
TTLL4

Expression for TTLL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTLL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for TTLL4 Gene

This gene is overexpressed in Amniocyte (36.2), Cervix (26.2), and Blymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TTLL4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTLL4

SOURCE GeneReport for Unigene cluster for TTLL4 Gene:

Hs.471405

Evidence on tissue expression from TISSUES for TTLL4 Gene

  • Bone marrow(4.2)
  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with TTLL4: view

No data available for 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 TTLL4 Gene

Orthologs for TTLL4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTLL4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TTLL4 29 30
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TTLL4 29 30
  • 86.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TTLL4 29 30
  • 86.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ttll4 29 16 30
  • 84.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ttll4 29
  • 84.21 (n)
Oppossum
(Monodelphis domestica)
Mammalia TTLL4 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TTLL4 29 30
  • 62.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TTLL4 30
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ttll4 29
  • 57.01 (n)
Str.16925 29
Zebrafish
(Danio rerio)
Actinopterygii ttll4 30
  • 45 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG3964 30
  • 34 (a)
OneToMany
CG16833 30
  • 31 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ttll-4 29 30
  • 47.32 (n)
OneToOne
Species where no ortholog for TTLL4 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for TTLL4 Gene

ENSEMBL:
Gene Tree for TTLL4 (if available)
TreeFam:
Gene Tree for TTLL4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTLL4: view image
Alliance of Genome Resources:
Additional Orthologs for TTLL4

Paralogs for TTLL4 Gene

(4) SIMAP similar genes for TTLL4 Gene using alignment to 11 proteins:

  • TTLL4_HUMAN
  • C9J3I1_HUMAN
  • C9J982_HUMAN
  • C9JB60_HUMAN
  • E7EX20_HUMAN
  • E9PH58_HUMAN
  • H7BZY4_HUMAN
  • H7C1F7_HUMAN
  • H7C2S3_HUMAN
  • H7C421_HUMAN
  • H7C470_HUMAN
genes like me logo Genes that share paralogs with TTLL4: view

Variants for TTLL4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTLL4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs114062474 Benign: not provided 218,748,884(+) C/T
NM_014640.5(TTLL4):c.2550C>T (p.Ser850=)
SYNONYMOUS
rs115517150 Benign: not provided 218,754,293(+) G/A
NM_014640.5(TTLL4):c.3504G>A (p.Thr1168=)
SYNONYMOUS
rs140587312 Likely Benign: not provided 218,738,089(+) C/T
NM_014640.5(TTLL4):c.413C>T (p.Ser138Leu)
MISSENSE
rs61733652 Benign: not provided 218,737,817(+) G/T
NM_014640.5(TTLL4):c.141G>T (p.Gln47His)
MISSENSE
rs79987978 Benign: not provided 218,737,787(+) G/A
NM_014640.5(TTLL4):c.111G>A (p.Ser37=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TTLL4 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 TTLL4 Gene

Variant ID Type Subtype PubMed ID
esv3389959 CNV insertion 20981092
nsv518750 CNV loss 19592680

Variation tolerance for TTLL4 Gene

Residual Variation Intolerance Score: 87.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.24; 96.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTLL4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTLL4
Leiden Open Variation Database (LOVD)
TTLL4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTLL4 Gene

Disorders for TTLL4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TTLL4 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search TTLL4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TTLL4

genes like me logo Genes that share disorders with TTLL4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTLL4 Gene

Publications for TTLL4 Gene

  1. Involvement of the tubulin tyrosine ligase-like family member 4 polyglutamylase in PELP1 polyglutamylation and chromatin remodeling in pancreatic cancer cells. (PMID: 20442285) Kashiwaya K … Nakamura Y (Cancer research 2010) 2 3 22
  2. Author Correction: Structural basis for polyglutamate chain initiation and elongation by TTLL family enzymes. (PMID: 32792670) Mahalingan KK … Roll-Mecak A (Nature structural & molecular biology 2020) 2 3
  3. Polyglutamylation is a post-translational modification with a broad range of substrates. (PMID: 18045879) van Dijk J … Janke C (The Journal of biological chemistry 2008) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for TTLL4 Gene

Sources for TTLL4 Gene