CLCF1 - cardiotrophin like cytokine factor 1 Gene
Also Known as CLC; NR6; BSF3; NNT1; BSF-3; CISS2; NNT-1
Species: Homo sapiens
About CLCF1
This gene has 2 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in gall bladder (RPKM 9.3), endometrium (RPKM 7.5) and 21 other tissues.
Summary
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]
CLCF1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001166212.2 | NP_001159684.1 | cardiotrophin-like cytokine factor 1 isoform 2 precursor |
| NM_013246.3 | NP_037378.1 | cardiotrophin-like cytokine factor 1 isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| contributes to ciliary neurotrophic factor receptor binding |
IDA
IDA: Inferred from direct assay
|
10966616 | GOA |
| enables ciliary neurotrophic factor receptor binding |
IDA
IDA: Inferred from direct assay
|
11285233 | GOA |
| contributes to cytokine activity |
IDA
IDA: Inferred from direct assay
|
10966616 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10966616 | GOA |
| enables signaling receptor binding |
IPI
IPI: Inferred from physical interaction
|
15272019 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cell surface receptor signaling pathway via STAT |
IDA
IDA: Inferred from direct assay
|
10966616 | GOA |
| involved in negative regulation of neuron apoptotic process |
IDA
IDA: Inferred from direct assay
|
10966616 | GOA |
| involved in positive regulation of cell population proliferation |
IDA
IDA: Inferred from direct assay
|
10966616 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of CNTFR-CLCF1 complex |
IDA
IDA: Inferred from direct assay
|
11285233 | GOA |
| part of CRLF-CLCF1 complex |
IDA
IDA: Inferred from direct assay
|
10966616 | GOA |
| located in extracellular region |
IDA
IDA: Inferred from direct assay
|
10966616 | GOA |
CLCF1 Protein Structure
PRF: Plethodontid receptivity factor PRF (54 - 211)
- 0
- 100
- 200
- 225 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cardiotrophin-like cytokine factor 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
|
| Cold-Induced Sweating Syndrome |
|
|
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
|
| Developmental And Epileptic Encephalopathy 11 |
|
|
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
|
| Arthrogryposis, Distal, Type 1a |
|
|
| Osteoporosis |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | CLCF1 | MGD | MGI:1930088 |
| Rattus norvegicus | CLCF1 | RGD | RGD:1303171 |
| Bos taurus | CLCF1 | VGNC | VGNC:56260 |
| Felis catus | CLCF1 | VGNC | VGNC:60922 |
| Macaca mulatta | CLCF1 | VGNC | VGNC:71195 |
| Canis familiaris | CLCF1 | VGNC | VGNC:39300 |
| Others | CLCF1 | NCBI |