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- Official
Symbol
- CNTFRprovided by HGNC
- Official
Full Name
- ciliary neurotrophic factor receptorprovided by HGNC
- Primary Source
-
HGNC:2170
- See related
-
Ensembl:ENSG00000122756;
HPRD:00348;
MIM:118946
- Gene type
- protein coding
- RefSeq status
- REVIEWED
- Organism
-
Homo sapiens
- Lineage
- Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
- Also known as
- MGC1774; CNTFR
- Summary
- This gene encodes a hematopoeitin/interferon-class receptor belonging to the cytokine superfamily of receptors. The encoded gene product represents the CNTF-specific alpha subunit of a heterotrimer forming the CNTF receptor complex, which also includes LIFR and gp130. The receptor is attached to the membrane by a glycosyl-phosphatidylinositol linkage and contains an immunoglobulin-like C2-type domain and a fibronectin type-III domain. Signal transduction requires that CNTF bind first to this alpha component, which permits the recruitment of gp130 and LIFR beta to form the tripartite receptor complex. Signal transduction stimulates gene expression, cell survival or differentiation in a variety of neuronal cell types. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq]
Related Articles in PubMed
GeneRIFs: Gene References Into Function
What's a GeneRIF?
|
1. |
These results indicate that humanin protects neurons by binding to a complex or complexes involving CNTFR/WSX-1/gp130. |
|
2. |
In liver CNTFRalpha serves as a key modulator in regulating PI3K and AMP-activated protein kinase dynamically under CNTF stimulation, resulting in the increase of glucose uptake and translocation of glucose transporter 4. |
|
3. |
Observational study of gene-disease association. (HuGE Navigator) |
|
4. |
interactions of CNTFR with LIFR and gp130 in vitro |
|
5. |
C174T polymorphism in exon 9 of CNTFR is significantly associated with fat-free mass in men and women, with concomitant differences in muscular strength. |
|
6. |
Structural and docking interaction studies showed that the R197L substitution destabilized the contact site between CLC and CNTFRalpha. |
Pathways
- KEGG pathway: Cytokine-cytokine receptor interaction
- 04060
- KEGG pathway: Jak-STAT signaling pathway
- 04630
Gene Ontology Provided by GOA
- Preferred Names
- ciliary neurotrophic factor receptor
- Names
- ciliary neurotrophic factor receptor
- CNTFR alpha
- ciliary neurotrophic factor receptor alpha
RefSeqs maintained independently of Annotated Genomes
These reference sequences exist independently of genome builds. Explain
These reference sequences are curated
independently of the genome annotation cycle, so their versions may not match the RefSeq
versions in the current genome build. Identify version mismatches by comparing the
version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products
above.
mRNA and Protein(s)
-
NM_001842.3 → NP_001833.1 ciliary neurotrophic factor receptor preproprotein
- Description
- Transcript Variant: This variant (2) lacks a 5' non-coding exon compared to variant 1. Variants 1 and 2 encode the same protein.
- Source sequence(s)
-
BC001492,BI545014
- Consensus CDS
-
CCDS6558.1
- UniProtKB/Swiss-Prot
-
P26992
- UniProtKB/TrEMBL
-
Q5U050
- Conserved Domains (2) summary
-
- cd00063
Location:204 – 300
Blast Score: 118
- FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...
- cl00093
Location:39 – 96
Blast Score: 126
- IG; Immunoglobulin domain family; members are components of immunoglobulins, neuroglia, cell surface glycoproteins, such as, T-cell receptors, CD2, CD4, CD8, and membrane glycoproteins, such as, butyrophilin and chondroitin sulfate proteoglycan core...
-
NM_147164.1 → NP_671693.1 ciliary neurotrophic factor receptor preproprotein
- Description
- Transcript Variant: This variant (1) is the full-length transcript and encodes the same protein as variant 2.
- Source sequence(s)
-
BC001492,BI545014,M73238
- Consensus CDS
-
CCDS6558.1
- UniProtKB/Swiss-Prot
-
P26992
- UniProtKB/TrEMBL
-
Q5U050
- Conserved Domains (2) summary
-
- cd00063
Location:204 – 300
Blast Score: 118
- FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...
- cl00093
Location:39 – 96
Blast Score: 126
- IG; Immunoglobulin domain family; members are components of immunoglobulins, neuroglia, cell surface glycoproteins, such as, T-cell receptors, CD2, CD4, CD8, and membrane glycoproteins, such as, butyrophilin and chondroitin sulfate proteoglycan core...
RefSeqs of Annotated Genomes: Build 37.1
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs
for chromosomes and scaffolds (contigs) from both reference and alternate assemblies.
Model RNAs and proteins are also reported here.
Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly
Genomic
-
NC_000009.11
- Range
- 34551430..34589721, complement
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
-
NT_008413.18
- Range
- 34541430..34579721, complement
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
Alternate assembly (Celera)
Genomic
-
AC_000052.1
- Range
- 34482939..34521224, complement
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
-
NW_924062.1
- Range
- 34367458..34405743, complement
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
Alternate assembly (HuRef)
Genomic
-
AC_000141.1
- Range
- 34505792..34540343
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
-
NW_001839149.2
- Range
- 1327877..1362428
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
Gene LinkOut
The following LinkOut resources are supplied by external providers. These providers are
responsible for maintaining the links.
- Molecular Biology Databases
- Research Materials
NITE Biological Resource Center
- ExactAntigen
Harvard Institute of Proteomics