InnateDB Protein
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IDBP-60147.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CLCF1
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Protein Name
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cardiotrophin-like cytokine factor 1
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Synonyms
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BSF-3; BSF3; CISS2; CLC; NNT-1; NNT1; NR6;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000309338
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InnateDB Gene
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IDBG-60145 (CLCF1)
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Protein Structure
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Function |
Cytokine with B-cell stimulating capability. Binds to and activates the ILST/gp130 receptor. {ECO:0000269PubMed:10448081, ECO:0000269PubMed:10500198}.
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Subcellular Localization |
Secreted {ECO:0000250}.
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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.
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Tissue Specificity |
Expressed predominantly in lymph nodes, spleen, peripheral blood lymphocytes, bone marrow, and fetal liver. {ECO:0000269PubMed:10448081, ECO:0000269PubMed:10500198}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0002639
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positive regulation of immunoglobulin production
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GO:0007166
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cell surface receptor signaling pathway
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GO:0007259
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JAK-STAT cascade
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GO:0008284
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positive regulation of cell proliferation
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GO:0019221
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cytokine-mediated signaling pathway
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GO:0030183
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B cell differentiation
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GO:0030890
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positive regulation of B cell proliferation
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GO:0040007
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growth
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GO:0042517
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positive regulation of tyrosine phosphorylation of Stat3 protein
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GO:0043524
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negative regulation of neuron apoptotic process
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GO:0048295
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positive regulation of isotype switching to IgE isotypes
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GO:0048711
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positive regulation of astrocyte differentiation
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Cellular Component |
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PDB ID |
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InterPro |
IPR000151
Ciliary neurotrophic factor, CNTF
IPR009079
Four-helical cytokine-like, core
IPR010681
Plethodontid receptivity factor PRF
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PFAM |
PF01110
PF06875
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UBD9
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PhosphoSite |
PhosphoSite-Q9UBD9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
23529
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UniGene |
Hs.502977
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RefSeq |
NP_037378
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HUGO |
HGNC:17412
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OMIM |
607672
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CCDS |
CCDS31617
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HPRD |
09643
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IMGT |
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EMBL |
AF172854
AF176911
AF176912
AK298052
AP003419
AY049779
BC012939
BC066229
BC066230
BC066231
CH471076
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GenPept |
AAD54284
AAF00991
AAF00992
AAH12939
AAH66229
AAH66230
AAH66231
AAL15436
BAG60346
EAW74601
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