DLEC1 Gene Summary [Human]

The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016]

Details

Type
Retained Intron
Official Symbol
DLEC1
Official Name
DLEC1 cilia and flagella associated protein [Source:HGNC Symbol;Acc:HGNC:2899]
Ensembl ID
ENSG00000008226
Bio databases IDs NCBI: 9940 Ensembl: ENSG00000008226
Aliases DLEC1 cilia and flagella associated protein, cilia and flagella associated protein 81
Synonyms CFAP81, D630005C06RIK, deleted in lung and esophageal cancer 1, deleted in lung and oesophageal cancer 1, DLC-1, DLEC1 cilia and flagella associated protein, F56, FAP81
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 DLEC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • beta-tubulin binding
  • alpha-tubulin binding
  • Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  • 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
  • uterine leiomyoma
  • leiomyomatosis
regulated by
role in cell
  • growth

Subcellular Expression

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DLEC1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • defense response to tumor cell
  • negative regulation of cell proliferation
  • spermatogenesis
  • cell differentiation

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • cilium
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • tubulin binding
  • protein binding
  • beta-tubulin binding
  • alpha-tubulin binding

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.