CRLF1
entrez
9244
canonical
uniprot
O75462
canonical
ensembl
ENSG00000006016
resolver
ensp
ENSP00000376188
resolver
ensp
ENSP00000641917
resolver
enst
ENST00000392386
resolver
enst
ENST00000971858
resolver
genesymbol
CRLF1
resolver
hgnc
HGNC:2364
resolver
uniprot
Q9UHH5
resolver
uniprot_entry
CRLF1_HUMAN
resolver
uniprot_sec
Q9UHH5
resolver
amino_acid_sequence
MPAGRRGPAAQSARRPPPLLPLLLLLCVLGAPRAGSGAHTAVISPQDPTLLIGSSLLATCSVHGDPPGATAEGLYWTLNGRRLPPELSRVLNASTLALALANLNGSRQRSGDNLVCHARDGSILAGSCLYVGLPPEKPVNISCWSKNMKDLTCRWTPGAHGETFLHTNYSLKYKLRWYGQDNTCEEYHTVGPHSCHIPKDLALFTPYEIWVEATNRLGSARSDVLTLDILDVVTTDPPPDVHVSRVGGLEDQLSVRWVSPPALKDFLFQAKYQIRYRVEDSVDWKVVDDVSNQTSCRLAGLKPGTVYFVQVRCNPFGIYGSKKAGIWSEWSHPTAASTPRSERPGPGGGACEPRGGEPSSGPVRRELKQFLGWLKKHAYCSNLSFRLYDQWRAWMQKSHKTRNQDEGILPSGRRGTARGPAR
uniprot
proteins
disease_involvement
DISEASE: Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]: 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:12509788, ECO:0000269|PubMed:16952376, ECO:0000269|PubMed:17436251, ECO:0000269|PubMed:17436252, ECO:0000269|PubMed:21326283, ECO:0000269|PubMed:23026229, ECO:0000269|PubMed:24488861}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as secretory protein carrier chaperone that promotes cellular release (PubMed:10966616). Also functions as a cytokine subunit within the CRLF1-CLCF1 heterodimer, which engages the CNTF receptor complex (CNTFR, IL6ST/gp130, LIFR) (PubMed:10966616). As part of the CRLF-CLCF1 complex, binds 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). 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:10966616, PubMed:11294841). 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:10966616). May also play a regulatory role in the immune system (PubMed:9686600). {ECO:0000269|PubMed:10966616, ECO:0000269|PubMed:11294841, ECO:0000269|PubMed:9686600}.
uniprot
proteins
mass_dalton
46302
uniprot
proteins
protein_family
Type 3 subfamily
uniprot
proteins
protein_family
Type I cytokine receptor family
uniprot
proteins
pubmed
10966616
uniprot
proteins
pubmed
11294841
uniprot
proteins
pubmed
12509788
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16952376
uniprot
proteins
pubmed
17436251
uniprot
proteins
pubmed
17436252
uniprot
proteins
pubmed
21326283
uniprot
proteins
pubmed
23026229
uniprot
proteins
pubmed
24488861
uniprot
proteins
pubmed
26858303
uniprot
proteins
pubmed
36930708
uniprot
proteins
pubmed
9686600
uniprot
proteins
sequence_length
422
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10966616, ECO:0000269|PubMed:9686600}.
uniprot
proteins