DLK1 Gene Summary [Human]
This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | DLK1 |
| Official Name | delta like non-canonical Notch ligand 1 [Source:HGNC Symbol;Acc:HGNC:2907] |
| Ensembl ID | ENSG00000185559 |
| Bio databases IDs | |
| Aliases | delta like non-canonical Notch ligand 1 |
| Synonyms | AC165954.1, delta, Delta1, Delta-like 1 homolog, delta like non-canonical Notch ligand 1, DLK, DlkI, FA1, foetal antigen 1, Ly107, Peg9, pG2, PREF1, SCP1, ZOG, δ, δ-like 1 homolog, δ-like dlk homeotic, δ like non-canonical Notch ligand 1 |
| Species | Human, Homo sapiens |
| Orthologies |
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 DLK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- ectodomain
- intracellular domain
- protein binding
- membrane-proximal domain
- EGF_CA
Pathways
Biological processes and signaling networks where the DLK1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatic steatosis
- hyperlipidemia
- neoplasia
- glioblastoma
- central precocious puberty
- obesity
- growth failure
- bronchiolo-alveolar adenocarcinoma
- broncho-alveolar lung cancer
- hepatic fibrosis
role in cell
- expression in
- activation in
- growth
- formation
- upregulation in
- survival
- phosphorylation in
- production in
- differentiation
- transcription 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.
- Extracellular Space
- Cytoplasm
- cellular membrane
- Plasma Membrane
- cytosol
- plasma membrane extracellular face
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DLK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell differentiation
- negative regulation of Notch signaling pathway
Cellular Component
Where in the cell the gene product is active
- extracellular space
- cytoplasm
- membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding