CRLF1

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
Gene location (Human) Chr. Chromosome 19 (human) Band 19p13.11 Start 18,572,220 bp End 18,607,741 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8 B3.3|8 34.15 cM Start 70,945,808 bp End 70,956,731 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right coronary artery popliteal artery left coronary artery thoracic aorta ascending aorta right lobe of thyroid gland left lobe of thyroid gland nucleus accumbens tibial nerve Brodmann area 9 Top expressed in seminiferous tubule corneal stroma maxillary prominence lower lip submandibular gland upper lip hand calvaria spermatid molar 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
Wikidata
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Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene.

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.

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)
• 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.

It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions. 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.

Further reading

• Elson GC, Lelièvre E, Guillet C, et al. (2000). "CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex". Nat. Neurosci. 3 (9): 867–72. doi:10.1038/78765. PMID 10966616. S2CID 25766998.
• Lelièvre E, Plun-Favreau H, Chevalier S, et al. (2001). "Signaling pathways recruited by the cardiotrophin-like cytokine/cytokine-like factor-1 composite cytokine: specific requirement of the membrane-bound form of ciliary neurotrophic factor receptor alpha component". J. Biol. Chem. 276 (25): 22476–84. doi:10.1074/jbc.M101681200. PMID 11294841.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Knappskog PM, Majewski J, Livneh A, et al. (2003). "Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene". Am. J. Hum. Genet. 72 (2): 375–83. doi:10.1086/346120. PMC 379230. PMID 12509788.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
• Heese K, Yamada T, Akatsu H, et al. (2005). "Characterizing the new transcription regulator protein p60TRP". J. Cell. Biochem. 91 (5): 1030–42. doi:10.1002/jcb.20010. PMID 15034937. S2CID 28107229.
• Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Sci. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Dagoneau N, Bellais S, Blanchet P, et al. (2007). "Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes". Am. J. Hum. Genet. 80 (5): 966–70. doi:10.1086/513608. PMC 1852726. PMID 17436251.
• Crisponi L, Crisponi G, Meloni A, et al. (2007). "Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1". Am. J. Hum. Genet. 80 (5): 971–81. doi:10.1086/516843. PMC 1852730. PMID 17436252.

External links

• Hahn, Angelika F. Knappskog, Per Morten (March 3, 2011 [Updated August 12, 2021]). "Cold-Induced Sweating Syndrome Including Crisponi Syndrome". GeneReviews.
• "Search: '601559 193700 601680 272430 601378 604237 607672 610313 272430 601378 604237 607672 610313 (Search in: MIM number)'". Online Mendelian Inheritance in Man entries about cold-induced sweating syndrome including Crisponi syndrome.
• Human CRLF1 genome location and CRLF1 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.