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CRLF1
Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal development. May be involved in nervous system development. Defects in CRLF1 are the cause of cold-induced sweating syndrome type 1 (CISS1). Cold-induced sweating syndrome (CISS) is an autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Additional abnormalities include a high- arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. Defects in CRLF1 are the cause of Crisponi syndrome (CRISPS). Crisponi syndrome is a rare autosomal recessive disorder characterized by congenital muscular contractions of facial muscles, with trismus in response to stimuli, dysmorphic features, bilateral camptodactyly, major feeding and respiratory difficulties, and access of hyperthermia leading to death in the first months of life. Belongs to the type I cytokine receptor family. Type 3 subfamily. Note: This description may include information from UniProtKB.
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| Protein type: Secreted, signal peptide; Secreted |
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Cellular Component: extracellular space; cytoplasm; plasma membrane
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Molecular Function: protein binding; protein heterodimerization activity; cytokine binding; cytokine activity; receptor activity; ciliary neurotrophic factor receptor binding
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Biological Process: ureteric bud development; positive regulation of cell proliferation; negative regulation of neuron apoptosis; positive regulation of tyrosine phosphorylation of Stat3 protein
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Reference #:
O75462 (UniProtKB)
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| Alt. Names/Synonyms: CISS; CISS1; class I cytokine receptor; CLF; CLF-1; CRLF1; Cytokine receptor-like factor 1; cytokine type 1 receptor CRLP-1; Cytokine-like factor 1; NR6; ZcytoR5 |
| Gene Symbols: CRLF1 |
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Molecular weight: 46,302 Da
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Basal Isoelectric point: 9.3
Predict pI for various phosphorylation states
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CST Pathways:
PI3K/Akt Signaling
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