CLCF1 Gene Summary [Human]
This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | CLCF1 |
| Official Name | cardiotrophin like cytokine factor 1 [Source:HGNC Symbol;Acc:HGNC:17412] |
| Ensembl ID | ENSG00000175505 |
| Bio databases IDs | |
| Aliases | cardiotrophin like cytokine factor 1, B-cell stimulating factor 3, cold-induced sweating syndrome 2, novel neurotrophin-1 |
| Synonyms | BSF-3, cardiotrophin-like cytokine factor 1, CISS2, CLC, NNT-1, NNT-1/BSF-3, NR6 |
| 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 CLCF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ciliary neurotrophic factor receptor binding
- protein binding
- receptor binding
- cytokine
- growth factor
Pathways
Biological processes and signaling networks where the CLCF1 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
- cold-induced sweating syndrome 2
- insulin resistance
- chronic periodontal disease
- obesity
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- hypothermia
- hyperplasia
role in cell
- expression in
- apoptosis
- differentiation
- proliferation
- survival
- production in
- accumulation in
- phosphorylation in
- quantity
- number
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLCF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of isotype switching to IgE isotypes
- B cell differentiation
- cytokine-mediated signaling pathway
- positive regulation of cell proliferation
- positive regulation of immunoglobulin production
- positive regulation of B cell proliferation
- positive regulation of astrocyte differentiation
- cell surface receptor signaling pathway
- positive regulation of tyrosine phosphorylation of STAT protein
- negative regulation of neuron apoptotic process
- JAK-STAT cascade
Cellular Component
Where in the cell the gene product is active
- extracellular space
- CRLF-CLCF1 complex
- CNTFR-CLCF1 complex
- extracellular region
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- protein binding
- cytokine activity
- receptor binding
- ciliary neurotrophic factor receptor binding