Gene Gene information from NCBI Gene database.
Entrez ID 9244
Gene name Cytokine receptor like factor 1
Gene symbol CRLF1
Synonyms (NCBI Gene)
CISSCISS1CLFCLF-1NR6zcytor5
Chromosome 19
Chromosome location 19p13.11
Summary 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 neuro
SNPs SNP information provided by dbSNP.
22
SNP ID Visualize variation Clinical significance Consequence
rs104894668 A>C Pathogenic Coding sequence variant, missense variant
rs104894670 C>T Benign, pathogenic Coding sequence variant, missense variant
rs137853143 A>C,G Pathogenic Coding sequence variant, missense variant
rs137853144 T>A Pathogenic Coding sequence variant, stop gained
rs137853145 G>A,C,T Pathogenic Synonymous variant, coding sequence variant, missense variant, stop gained
miRNA miRNA information provided by mirtarbase database.
608
miRTarBase ID miRNA Experiments Reference
MIRT019983 hsa-miR-375 Microarray 20215506
MIRT023159 hsa-miR-124-3p Microarray 18668037
MIRT030308 hsa-miR-26b-5p Microarray 19088304
MIRT610083 hsa-miR-8485 HITS-CLIP 23824327
MIRT610082 hsa-miR-329-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PLAG1 Activation 14712223
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001657 Process Ureteric bud development IEA
GO:0004896 Function Cytokine receptor activity IBA
GO:0005125 Function Cytokine activity IDA 10966616
GO:0005127 Function Ciliary neurotrophic factor receptor binding IDA 10966616
GO:0005515 Function Protein binding IPI 10966616, 19933857, 26858303
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604237 2364 ENSG00000006016
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75462
Protein name Cytokine receptor-like factor 1 (Cytokine-like factor 1) (CLF-1) (ZcytoR5)
Protein function In complex with CLCF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). May also play a regulatory role in the immune system.
PDB 8D7H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09067 EpoR_lig-bind 131 228 Erythropoietin receptor, ligand binding Domain
PF00041 fn3 236 317 Fibronectin type III domain Domain
Tissue specificity 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:0000269|PubMed:9686600}.
Sequence
MPAGRRGPAAQSARRPPPLLPLLLLLCVLGAPRAGSGAHTAVISPQDPTLLIGSSLLATC
SVHGDPPGATAEGLYWTLNGRRLPPELSRVLNASTLALALANLNGSRQRSGDNLVCHARD
GSILAGSCLYVGLPPEKPVNISCWSKNMKDLTCRWTPGAHGETFLHTNYSLKYKLRWYGQ
DNTCEEYHTVGPHSCHIPKDLALFTPYEIWVEATNRLGSARSDVLTLD
ILDVVTTDPPPD
VHVSRVGGLEDQLSVRWVSPPALKDFLFQAKYQIRYRVEDSVDWKVVDDVSNQTSCRLAG
LKPGTVYFVQVRCNPFG
IYGSKKAGIWSEWSHPTAASTPRSERPGPGGGACEPRGGEPSS
GPVRRELKQFLGWLKKHAYCSNLSFRLYDQWRAWMQKSHKTRNQDEGILPSGRRGTARGP
AR
Sequence length 422
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    IL-6-type cytokine receptor ligand interactions
Interleukin-27 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cold-induced sweating syndrome Likely pathogenic; Pathogenic rs2145339928, rs2513397402, rs2513397377, rs137853929 RCV002271797
RCV002281810
RCV003988489
RCV003323930
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cold-induced sweating syndrome 1 Pathogenic; Likely pathogenic rs1199919814, rs2513391100, rs768727082, rs1976145478, rs761746361, rs137853143, rs137853144, rs2145329741, rs137853145, rs137853928, rs745392621, rs367543004, rs137853929, rs137853932, rs1555758035
View all (3 more)
RCV002052184
RCV002287528
RCV002285031
RCV002262181
RCV000006061
View all (14 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod dystrophy 12 Likely pathogenic; Pathogenic rs137853932 RCV003236599
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Crisponi/Cold-induced sweating syndrome Pathogenic rs1600651228 RCV000790409
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CRISPONI SYNDROME CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ULCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 28947096, 29561382, 30095338
★☆☆☆☆
Found in Text Mining only
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Anhidrosis Anhidrosis BEFREE 26804344
★☆☆☆☆
Found in Text Mining only
Arthritis Juvenile Juvenile arthritis Pubtator 36167601 Stimulate
★☆☆☆☆
Found in Text Mining only
Bohring syndrome Bohring-Opitz syndrome BEFREE 30300710
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 29773567
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 27378695 Associate
★☆☆☆☆
Found in Text Mining only
Cartilage Diseases Cartilage disease Pubtator 17935617 Associate
★☆☆☆☆
Found in Text Mining only
Cold-induced sweating syndrome Cold-Induced Sweating Syndrome Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)