ID:TTLL1_HUMAN DESCRIPTION: RecName: Full=Probable tubulin polyglutamylase TTLL1; EC=6.-.-.-; AltName: Full=Tubulin polyglutamylase complex subunit 3; Short=PGs3; AltName: Full=Tubulin--tyrosine ligase-like protein 1; FUNCTION: Catalytic subunit of the neuronal tubulin polyglutamylase complex. Modifies alpha- and beta-tubulin, generating side chains of glutamate on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin (By similarity). SUBUNIT: Part of the neuronal tubulin polyglutamylase complex which contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1 (By similarity). SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (Probable). TISSUE SPECIFICITY: Expressed in a wide range of tissues. Has a stronger expression in heart, brain and testis. SIMILARITY: Belongs to the tubulin polyglutamylase family. SIMILARITY: Contains 1 TTL domain. SEQUENCE CAUTION: Sequence=CAB51423.1; Type=Erroneous translation; Note=Wrong choice of CDS;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TTLL1 CDC HuGE Published Literature: TTLL1 Positive Disease Associations: Hand Strength Related Studies:
Hand Strength Kathryn L Lunetta et al. BMC medical genetics 2007, Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study., BMC medical genetics.
[PubMed 17903295]
Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are proposed as contributing to longevity and healthy aging.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95922
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0003351 epithelial cilium movement GO:0006464 cellular protein modification process GO:0007288 sperm axoneme assembly GO:0018095 protein polyglutamylation GO:0035082 axoneme assembly GO:1905419 sperm flagellum movement involved in flagellated sperm motility