CLCF1
entrez
23529
canonical
uniprot
Q9UBD9
canonical
ensembl
ENSG00000175505
resolver
ensp
ENSP00000309338
resolver
ensp
ENSP00000434122
resolver
genesymbol
CLCF1
resolver
genesymbol_syn
BSF3
resolver
genesymbol_syn
CLC
resolver
genesymbol_syn
NNT1
resolver
hgnc
HGNC:17412
resolver
uniprot
B4DNT4
resolver
uniprot
Q6NZA4
resolver
uniprot_entry
CLCF1_HUMAN
resolver
uniprot_sec
B4DNT4
resolver
uniprot_sec
Q6NZA4
resolver
amino_acid_sequence
MDLRAGDSWGMLACLCTVLWHLPAVPALNRTGDPGPGPSIQKTYDLTRYLEHQLRSLAGTYLNYLGPPFNEPDFNPPRLGAETLPRATVDLEVWRSLNDKLRLTQNYEAYSHLLCYLRGLNRQAATAELRRSLAHFCTSLQGLLGSIAGVMAALGYPLPQPLPGTEPTWTPGPAHSDFLQKMDDFWLLKELQTWLWRSAKDFNRLKKKMQPPAAAVTLHLGAHGF
uniprot
proteins
disease_involvement
DISEASE: Crisponi/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:0000269|PubMed:16782820}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as a cytokine, either alone or by forming a stable complex with soluble CRLF1 or CNTFR (PubMed:10448081, PubMed:10500198, PubMed:10966616, PubMed:11285233, PubMed:11294841). Binds to CNTFR complex (CNTFR, IL6ST/gp130, LIFR) or can signal via trans-signaling using soluble CNTFR subunits (PubMed:10966616, PubMed:11285233, PubMed:11294841). Mechanistically, ligand binding to CNTFR, induces dimerization of the IL6ST/gp130 and LIFR, which activates JAK tyrosine kinases (JAK1 or JAK2 and to lesser extent TYK2) bound to their intracellular domains (PubMed:11294841, PubMed:16782820). These kinases subsequently phosphorylate IL6ST/gp130 and LIFR (PubMed:11294841). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activators of transcription (STAT3 and to lesser extent STAT1) (PubMed:10448081, PubMed:10500198, PubMed:10966616, PubMed:11285233, PubMed:11294841, PubMed:16782820). Moreover, CLCF1/CLF heterodimer induces tyrosine phosphorylation of PTPN11, that associates with IL6ST/gp130-LIFR, which in turn recruits PIK3 protein kinase followed by AKT protein phosphorylation (PubMed:11294841). Participates in the survival of embryonic motor neurons (PubMed:10500198, PubMed:10966616). Also stimulates B-cells (By similarity). {ECO:0000250|UniProtKB:Q9QZM3, ECO:0000269|PubMed:10448081, ECO:0000269|PubMed:10500198, ECO:0000269|PubMed:10966616, ECO:0000269|PubMed:11285233, ECO:0000269|PubMed:11294841, ECO:0000269|PubMed:16782820}.
uniprot
proteins
mass_dalton
25176
uniprot
proteins
protein_family
IL-6 superfamily
uniprot
proteins
pubmed
10448081
uniprot
proteins
pubmed
10500198
uniprot
proteins
pubmed
10966616
uniprot
proteins
pubmed
11285233
uniprot
proteins
pubmed
11294841
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16782820
uniprot
proteins
pubmed
26858303
uniprot
proteins
pubmed
36930708
uniprot
proteins
sequence_length
225
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10966616, ECO:0000269|PubMed:11285233, ECO:0000269|PubMed:16782820}. Note=Secreted as a stable complex with CLCF1 or soluble form of CNTFR (PubMed:10966616, PubMed:11285233). Secretion is CRLF1- or CNTFR (soluble form)-dependent (PubMed:10966616, PubMed:11285233). {ECO:0000269|PubMed:10966616, ECO:0000269|PubMed:11285233}.
uniprot
proteins