Gene Gene information from NCBI Gene database.
Entrez ID 158135
Gene name Tubulin tyrosine ligase like 11
Gene symbol TTLL11
Synonyms (NCBI Gene)
C9orf148C9orf20TTLL11-IT1bA244O19.1
Chromosome 9
Chromosome location 9q33.2
miRNA miRNA information provided by mirtarbase database.
84
miRTarBase ID miRNA Experiments Reference
MIRT722142 hsa-miR-4704-3p HITS-CLIP 19536157
MIRT722141 hsa-miR-6849-3p HITS-CLIP 19536157
MIRT722140 hsa-miR-6072 HITS-CLIP 19536157
MIRT722139 hsa-miR-6891-3p HITS-CLIP 19536157
MIRT722138 hsa-miR-3183 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620694 18113 ENSG00000175764
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NHH1
Protein name Tubulin polyglutamylase TTLL11 (EC 6.3.2.-) (Tubulin--tyrosine ligase-like protein 11)
Protein function Polyglutamylase which modifies tubulin, generating polyglutamate side chains of variable lengths on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent polyglutamat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03133 TTL 263 572 Tubulin-tyrosine ligase family Family
Sequence
MAAAASVTGRVTWAASPMRSLGLGRRLSLPGPRLDAVTAAVNPSLSDHGNGLGRGTRGSG
CSGGSLVADWGGGAAAAAAVALALAPALSTMRRGSSESELAARWEAEAVAAAKAAAKAEA
EATAETVAEQVRVDAGAAGEPECKAGEEQPKVLAPAPAQPSAAEEGNTQVLQRPPPTLPP
SKPKPVQGLCPHGKPRDKGRSCKRSSGHGSGENGSQRPVTVDSSKARTSLDALKISIRQL
KWKEFPFGRRLPCDIYWHGVSFHDNDIFSGQVNKFPGMTEMVRKITLSRAVRTMQNLFPE
EYNFYPRSWILPDEFQLFVAQVQMVKDDDPSWKPTFIVKPDGGCQGDGIYLIKDPSDIRL
AGTLQSRPAVVQEYICKPLLIDKLKFDIRLYVLLKSLDPLEIYIAKDGLSRFCTEPYQEP
TPKNLHRIFMHLTNYSLNIHSGNFIHSDSASTGSKRTFSSILCRLSSKGVDIKKVWSDII
SVVIKTVIALTPELKVFYQSDIPTGRPGPTCFQILGFDILLMKNLKPILLEVNANPSMRI
EHEHELSPGVFENVPSLVDEEVKVAVIRDTLR
LMDPLKKKRENQSQQLEKPFAGKEDALD
GELTSAPDCNANPEAHLPSICLKQVFPKYAKQFNYLRLVDRMANLFIRFLGIKGTMKLGP
TGFRTFIRSCKLSSSSLSMAAVDILYIDITRRWNSMTLDQRDSGMCLQAFVEAFFFLAQR
KFKMLPLHEQVASLIDLCEYHLSLLDEKRLVCGRGVPSGGRPPHRGPPQEPSPSAQPAGD
NPPPRTSCANKLSHPRHTLS
Sequence length 800
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Carboxyterminal post-translational modifications of tubulin
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIODONTITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 36511133 Associate
★☆☆☆☆
Found in Text Mining only
Glycosuria Renal Renal glycosuria Pubtator 34338422 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Mucocutaneous Lymph Node Syndrome Kawasaki disease Pubtator 38259468 Associate
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASDB_DG 22037555
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizophrenia Schizophrenia GWASCAT_DG 31374203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations