Gene Gene information from NCBI Gene database.
Entrez ID 150465
Gene name Tubulin tyrosine ligase
Gene symbol TTL
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q14.1
Summary TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine
miRNA miRNA information provided by mirtarbase database.
816
miRTarBase ID miRNA Experiments Reference
MIRT049681 hsa-miR-92a-3p CLASH 23622248
MIRT045574 hsa-miR-149-5p CLASH 23622248
MIRT038458 hsa-miR-296-3p CLASH 23622248
MIRT036928 hsa-miR-877-3p CLASH 23622248
MIRT036172 hsa-miR-320c CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0004835 Function Tubulin-tyrosine ligase activity IBA
GO:0004835 Function Tubulin-tyrosine ligase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608291 21586 ENSG00000114999
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NG68
Protein name Tubulin--tyrosine ligase (TTL) (EC 6.3.2.25)
Protein function Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin.
PDB 8ASN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03133 TTL 53 367 Tubulin-tyrosine ligase family Family
Sequence
Sequence length 377
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Neoplasms Associate 20924103
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Associate 36218090
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Associate 30642841
★☆☆☆☆
Found in Text Mining only