CLCF1

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]

Description

Cardiotrophin like cytokine factor 1

Tissue specificity

Low tissue specificity

Subcell location

Nuclear bodies, Vesicles

Predicted location

Secreted to blood

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted secreted proteins

Chromosome

11 (67364168 - 67374177)

Ensembl ID

ENSG00000175505  (ver. 103.38)

Orthologs

Mouse Clcf1: ENSMUSG00000040663

UniProt

Q9UBD9

neXtProt

NX_Q9UBD9

Human splice variants
Mouse splice variants

Protein structure