InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLCF1

Summary

InnateDB Protein

IDBP-591904.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLCF1

Protein Name

cardiotrophin-like cytokine factor 1

Synonyms

BSF-3; BSF3; CISS2; CLC; NNT-1; NNT1; NR6;

Species

Homo sapiens

Ensembl Protein

ENSP00000434122

InnateDB Gene

IDBG-60145 (CLCF1)

Protein Structure

UniProt Annotation

Function

Cytokine with B-cell stimulating capability. Binds to and activates the ILST/gp130 receptor. {ECO:0000269PubMed:10448081, ECO:0000269PubMed:10500198}.

Subcellular Localization

Secreted {ECO:0000250}.

Disease Associations

Cold-induced sweating syndrome 2 (CISS2) [MIM:610313]: An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. {ECO:0000269PubMed:16782820}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed predominantly in lymph nodes, spleen, peripheral blood lymphocytes, bone marrow, and fetal liver. {ECO:0000269PubMed:10448081, ECO:0000269PubMed:10500198}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005125	cytokine activity
GO:0005127	ciliary neurotrophic factor receptor binding
GO:0005515	protein binding
GO:0008083	growth factor activity
GO:0046982	protein heterodimerization activity

Biological Process

GO:0002639	positive regulation of immunoglobulin production
GO:0007166	cell surface receptor signaling pathway
GO:0007259	JAK-STAT cascade
GO:0008284	positive regulation of cell proliferation
GO:0019221	cytokine-mediated signaling pathway
GO:0030183	B cell differentiation
GO:0030890	positive regulation of B cell proliferation
GO:0040007	growth
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein
GO:0043524	negative regulation of neuron apoptotic process
GO:0048295	positive regulation of isotype switching to IgE isotypes
GO:0048711	positive regulation of astrocyte differentiation