InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRLF1

Summary

InnateDB Protein

IDBP-245762.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CRLF1

Protein Name

cytokine receptor-like factor 1

Synonyms

CISS; CISS1; CLF; CLF-1; NR6; zcytor5;

Species

Homo sapiens

Ensembl Protein

ENSP00000376188

InnateDB Gene

IDBG-38591 (CRLF1)

Protein Structure

UniProt Annotation

Function

Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal development. May be involved in nervous system development.

Subcellular Localization

Secreted {ECO:0000269PubMed:9686600}.

Disease Associations

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:0000269PubMed:12509788, ECO:0000269PubMed:16952376, ECO:0000269PubMed:17436251, ECO:0000269PubMed:17436252, ECO:0000269PubMed:21326283, ECO:0000269PubMed:23026229, ECO:0000269PubMed:24488861}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest levels of expression observed in spleen, thymus, lymph node, appendix, bone marrow, stomach, placenta, heart, thyroid and ovary. Strongly expressed also in fetal lung. {ECO:0000269PubMed:9686600}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005125	cytokine activity
GO:0005127	ciliary neurotrophic factor receptor binding
GO:0005515	protein binding
GO:0019955	cytokine binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0001657	ureteric bud development
GO:0008284	positive regulation of cell proliferation
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein
GO:0043524	negative regulation of neuron apoptotic process
GO:2000672	negative regulation of motor neuron apoptotic process