STIL Gene Summary [Human]

This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
STIL
Official Name
STIL centriolar assembly protein [Source:HGNC Symbol;Acc:HGNC:10879]
Ensembl ID
ENSG00000123473
Bio databases IDs NCBI: 6491 Ensembl: ENSG00000123473
Aliases STIL centriolar assembly protein
Synonyms MCPH7, Scl/Tal1 interrupting locus, SIL, STIL centriolar assembly protein, STIL, centriolar assembly protein
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 STIL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • SCL-interrupting locus protein N-terminus
  • protein binding
  • identical 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
  • neoplasia
  • autosomal recessive primary microcephaly type 7
  • growth failure
  • organismal death
  • nonsyndromic cleft lip and palate
  • behavioral deficit
  • holoprosencephaly
  • lung adenocarcinoma
  • lung adenocarcinoma formation
  • autosomal recessive primary microcephaly
regulated by
role in cell
  • apoptosis
  • expression in
  • proliferation
  • migration
  • accumulation in
  • organization
  • replication
  • formation
  • stabilization in
  • formation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • daughter centriole
  • Cytoplasm
  • basal bodies
  • centrosome
  • centriole
  • cytosol
  • nucleoplasm
  • spindle pole

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • multicellular organism growth
  • neural tube development
  • positive regulation of G1/S transition of mitotic cell cycle
  • mitotic spindle organization
  • positive regulation of centriole replication
  • smoothened signaling pathway
  • regulation of centriole replication
  • embryonic axis specification
  • regulation of mitotic spindle organization
  • determination of left/right symmetry
  • forebrain development
  • neural tube closure
  • notochord development
  • centrosome duplication
  • in utero embryonic development
  • negative regulation of apoptotic process
  • heart looping
  • floor plate development
  • protein localization to centrosome

Cellular Component

Where in the cell the gene product is active
  • centrosome
  • cytoplasm
  • centriole
  • cell cortex
  • cytosol
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding

Gene-Specific Assays for Results You Can Trust

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