Cytokine Receptor-Like Factor 1

Alternative Names

  • CRLF1
  • CLF1
  • NR6
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OMIM Number

604237

NCBI Gene ID

9244

Uniprot ID

O75462

Length

35,522 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Cytokine Receptor-Like Factor 1

Molecular Mass

46302 Da

Amino Acid Count

422

Genomic Location

chr19:18,593,236-18,606,798

Gene Map Locus
19p13.11

Description

The CRLF1 gene encodes a member of the cytokine type I receptor family. The CRLF1 protein heterodimerizes with cardiotrophin-like cytokine factor 1 (CLCF1) to bind ciliary neurotrophic factor receptors (CNFTR), in doing so it competes with ciliary neurotrophic factor (CNTF) for binding to CNTFR. This binding activates the JAK/STAT signaling pathway and promotes survival of signal-receiving neuronal cells.

The human CRLF1 protein consists of 422 amino acids. CRLF1 is a secreted protein that comprises one immunoglobulin (Ig)-like domain and two fibronectin type III (FNIII) domains. CRLF1 expression was detected in lymph nodes, spleen, thymus, appendix, placenta, stomach, and fetal lung.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004750.5:c.527+5G>AUnited Arab EmiratesNC_000019.10:g.18598767C>TPathogenicPathogenicCold-Induced Sweating Syndrome 1NG_013370.1:g.13084G>A; NM_004750.5:c.527+5G>A; NP_004741.1:p.?7488474345709
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