TTLL1 Gene Summary [Human]

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization and protein polyglutamylation. Predicted to act upstream of or within several processes, including cerebellar Purkinje cell differentiation; mucociliary clearance; and regulation of blastocyst development. Predicted to be located in cytoplasm; extracellular region; and microtubule cytoskeleton. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Nonsense Mediated Decay
Official Symbol
TTLL1
Official Name
tubulin tyrosine ligase like 1 [Source:HGNC Symbol;Acc:HGNC:1312]
Ensembl ID
ENSG00000100271
Bio databases IDs NCBI: 25809 Ensembl: ENSG00000100271
Aliases tubulin tyrosine ligase like 1, TTL family tubulin polyglutamylase complex subunit L1, polyglutamylase subunit 3
Synonyms 6330444E16Rik, C22orf7, HS323M22B, PGs3, TPGS3, TTL family tubulin polyglutamylase complex subunit L1, tubulin tyrosine ligase-like 1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TTLL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • acid-D-amino acid ligase
  • Carbamoyl-phosphate synthase L chain, ATP binding domain
  • enzyme
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • breast carcinoma
  • colorectal cancer
  • schizophrenia
  • pancreatic ductal adenocarcinoma
  • pancreatic epithelial cancer
  • ductal pancreatic cancer
  • seizures
  • sneeze
  • cough
  • rhinosinusitis
regulated by
regulates
  • alpha tubulin
  • beta tubulin
role in cell
  • cell death
  • assembly
  • movement
  • organization
  • motility
  • abnormal morphology
  • beat
  • curvature

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • basal bodies
  • microtubules
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TTLL1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein polyglutamylation
  • cerebellar Purkinje cell differentiation
  • sperm axoneme assembly
  • immune response in nasopharyngeal-associated lymphoid tissue
  • microtubule cytoskeleton organization

Cellular Component

Where in the cell the gene product is active
  • motile cilium
  • cytoplasm
  • cilium basal body
  • cilium
  • extracellular region
  • microtubule

Molecular Function

What the gene product does at the molecular level
  • ATP binding
  • tubulin binding
  • metal ion binding
  • tubulin-glutamic acid ligase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.