CRLF1

Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene.^[5][6]

CRLF1
Identifiers
Aliases	CRLF1, CISS, CISS1, CLF, CLF-1, NR6, zcytor5, cytokine receptor like factor 1
External IDs	OMIM: 604237; MGI: 1340030; HomoloGene: 3489; GeneCards: CRLF1; OMA:CRLF1 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.11 Start 18,572,220 bp[1] End 18,607,741 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 B3.3|8 34.15 cM Start 70,945,808 bp[2] End 70,956,731 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right coronary artery popliteal artery tibial arteries left coronary artery thoracic aorta ascending aorta right lobe of thyroid gland decidua left lobe of thyroid gland Descending thoracic aorta Top expressed in stroma of bone marrow seminiferous tubule corneal stroma maxillary prominence lower lip submandibular gland upper lip hand endothelial cell of lymphatic vessel calvaria More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein heterodimerization activity ciliary neurotrophic factor receptor binding cytokine activity protein binding cytokine binding cytokine receptor activity Cellular component extracellular region CRLF-CLCF1 complex extracellular space cytosol external side of plasma membrane receptor complex Biological process negative regulation of neuron apoptotic process ureteric bud development positive regulation of cell population proliferation negative regulation of motor neuron apoptotic process positive regulation of tyrosine phosphorylation of STAT protein regulation of signaling receptor activity cytokine-mediated signaling pathway interleukin-27-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9244 12931 Ensembl ENSG00000006016 ENSMUSG00000007888 UniProt O75462 Q9JM58 RefSeq (mRNA) NM_004750 NM_018827 NM_001378799 NM_001378800 NM_001378801 NM_001378802 NM_001378803 RefSeq (protein) NP_004741 NP_061297 NP_001365728 NP_001365729 NP_001365730 NP_001365731 NP_001365732 Location (UCSC) Chr 19: 18.57 – 18.61 Mb Chr 8: 70.95 – 70.96 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells.^[6]

Clinical significance

Mutations in this gene are associated with two conditions, both rare:

• Cold-induced sweating syndrome, characterized by profuse hyperhidrosis in cold environmental temperature and characteristic craniofacial and skeletal features)^[7][8]
• Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions, abnormal function of the autonomic nervous system and craniofacial and skeletal manifestations such as thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip and a small mouth.^[7]

It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.^[7] Other characteristic features in CRLF1 mutation include marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with poor expression, a nose with hypoplastic nares, malar hypoplasia and prognathism.^[7]