1. Gene
  2. CRLF1 - cytokine receptor like factor 1 Gene

CRLF1 - cytokine receptor like factor 1 Gene

Homo sapiens

Also known as CLF; NR6; CISS; CISS1; CLF-1; zcytor5

Gene ID: 9244 | Gene type: protein coding

About CRLF1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,593,237-18,606,799 (from NCBI)

This gene has 6 transcripts (splice variants), 173 orthologues, 23 paralogues and is associated with 5 phenotypes. Broad expression in placenta (RPKM 4.8), brain (RPKM 3.2) and 15 other tissues.

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 neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]

CRLF1 Products(1)

mRNA Protein Name
NM_004750.5 NP_004741.1 cytokine receptor-like factor 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to ciliary neurotrophic factor receptor binding IDA
IDA: Inferred from direct assay
10966616 GOA
contributes to cytokine activity IDA
IDA: Inferred from direct assay
10966616 GOA
enables cytokine binding IPI
IPI: Inferred from physical interaction
15034937 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10966616 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell surface receptor signaling pathway via STAT IDA
IDA: Inferred from direct assay
10966616 GOA
involved in negative regulation of neuron apoptotic process IDA
IDA: Inferred from direct assay
10966616 GOA
involved in positive regulation of cell population proliferation IDA
IDA: Inferred from direct assay
10966616 GOA
Cellular Component GO Annotation Evidence Reference Source
part of CRLF-CLCF1 complex IDA
IDA: Inferred from direct assay
10966616 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRLF1 Protein Structure

EpoR_lig-bind

EpoR_lig-bind: Erythropoietin receptor, ligand binding (133 - 227)

fn3

fn3: Fibronectin type III domain (236 - 312)

  • 0
  • 100
  • 200
  • 300
  • 422 a.a.
Protein Preferred Names Protein Names

cytokine receptor-like factor 1

class I cytokine receptor

CRLF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CRLF1 O75462 SORL1 Homo sapiens Q92673
SPR
26858303
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Crisponi/Cold-Induced Sweating Syndrome 1

Crisponi Syndrome

Cold-Induced Sweating Syndrome 1

CISS1

Sohar-Crisponi Syndrome

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Muscle Contractions Tetanoform With Characteristic Face Camptodactyly Hyperthermia And Sudden Death

Cold-Induced Sweating Syndrome

Crisponi Syndrome

Sohar-Crisponi Syndrome

Ciss

Cntf Receptor-Related Disorders

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Sweating Syndrome, Cold-Induced

Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Crisponi/Cold-Induced Sweating Syndrome

Achalasia

Cardiospasm

Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

Crisponi/Cold-Induced Sweating Syndrome 2

Cold-Induced Sweating Syndrome 2

CISS2

Sweating Syndrome, Cold-Induced, Type 2

Retinitis Pigmentosa 42

RP42

Retinitis Pigmentosa-42

Retinitis Pigmentosa, Type 42

Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11

DEE11

Eiee11

Developmental And Epileptic Encephalopathy, 11

Early Infantile Epileptic Encephalopathy 11

Encephalopathy, Developmental And Epileptic, Type 11

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay

CLIFAHDD

Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome

Clifahdd Syndrome

Doid:0081048

Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay

Tetanus Neonatorum

Neonatal Tetanus

NNT

Trismus Neonatorum

Newborn Trismus

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta CRLF1 VGNC VGNC:109610
Canis familiaris CRLF1 VGNC VGNC:39620
Felis catus CRLF1 VGNC VGNC:61183
Rattus norvegicus CRLF1 RGD RGD:1311371
Bos taurus CRLF1 VGNC VGNC:27717
Mus musculus CRLF1 MGD MGI:1340030
Others CRLF1 NCBI