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1: CNTFR ciliary neurotrophic factor receptor [ Homo sapiens ]

GeneID: 1271 updated 25-Nov-2009

[Top][Help]Summary

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]

[Top][Help]Genomic regions, transcripts, and products

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. These results indicate that humanin protects neurons by binding to a complex or complexes involving CNTFR/WSX-1/gp130.
PubMed 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.
PubMed 3. Observational study of gene-disease association. (HuGE Navigator)
PubMed 4. interactions of CNTFR with LIFR and gp130 in vitro
PubMed 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.
PubMed 6. Structural and docking interaction studies showed that the R197L substitution destabilized the contact site between CLC and CNTFRalpha.

[Top][Help]Interactions

Description ..........
  Product Interactant Other Gene Complex Source Pubs          
 
  NP_001833.1   NP_037378.1   CLCF1      HPRD    PubMed
 
  NP_001833.1   NP_000605.1   CNTF      HPRD    PubMed
 
  NP_001833.1   NP_004741.1   CRLF1      HPRD    PubMed
 
  NP_001833.1   NP_002175.1   IL6ST      HPRD    PubMed
 
  NP_001833.1   NP_002301.1   LIFR      HPRD    PubMed
 
  NP_001833.1   CLC        HPRD    PubMed
 
  NP_001833.1   CLF        HPRD    PubMed
Two-hybrid
  BioGRID:107671   BioGRID:115769   APPBP2      BioGRID    PubMed
Affinity Capture-Western; Co-purification
  BioGRID:107671   BioGRID:117075   CLCF1      BioGRID    PubMed
Reconstituted Complex
  BioGRID:107671   BioGRID:107670   CNTF      BioGRID    PubMed
Affinity Capture-Western; Reconstituted Complex
  BioGRID:107671   BioGRID:109786   IL6ST      BioGRID    PubMed
Two-hybrid
  BioGRID:107671   BioGRID:123756   KRTAP4-12      BioGRID    PubMed
Affinity Capture-Western; Reconstituted Complex
  BioGRID:107671   BioGRID:110165   LIFR      BioGRID    PubMed
Two-hybrid
  BioGRID:107671   BioGRID:111373   PLSCR1      BioGRID    PubMed

[Top][Help]General gene information

Markers

SHGC-149348(e-PCR)
Links: UniSTS:176950
RH102255(e-PCR)
Links: UniSTS:96589
RH80199(e-PCR)
Links: UniSTS:88448
CNTFR(e-PCR), detects polymorphism
Links: UniSTS:506038
D9S985E(e-PCR)
Links: UniSTS:151232
G59221(e-PCR)
Links: UniSTS:136394

Homology

Homologs of the CNTFR gene The CNTFR gene is conserved in dog, cow, mouse, rat, chicken, and zebrafish.


Map Viewer (Mouse, Rat)

Pathways

KEGG pathway: Cytokine-cytokine receptor interaction
04060
KEGG pathway: Jak-STAT signaling pathway
04630

[Top][Help]General protein information

Preferred Names
ciliary neurotrophic factor receptor
Names
ciliary neurotrophic factor receptor
CNTFR alpha
ciliary neurotrophic factor receptor alpha

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

  1. NM_001842.3NP_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:204300
    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:3996
    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...
  2. NM_147164.1NP_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:204300
    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:3996
    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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000009.11

    Range
    34551430..34589721, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NT_008413.18 

    Range
    34541430..34579721, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000052.1

    Range
    34482939..34521224, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_924062.1 

    Range
    34367458..34405743, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000141.1

    Range
    34505792..34540343
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_001839149.2 

    Range
    1327877..1362428
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AL160270.19   CAI13159.1
       CAI13160.1
  genomic   CH471071.2   EAW58445.1
       EAW58446.1
       EAW58447.1
       EAW58448.1
  genomic   L38020.1   None
  genomic   L38021.1   None
  genomic   L38022.1   AAA91337.1
  genomic   L38023.1   AAA91337.1
  genomic   L38024.1   AAA91337.1
  genomic   L38025.1   AAA91337.1
  mRNA   AK127444.1   BAG54504.1
  mRNA   BC001492.2   AAH01492.1
  mRNA   BI545014.1   None
  mRNA   BT019824.1   AAV38627.1
  mRNA   CR610538.1   None
  mRNA   CR615036.1   None
  mRNA   CR615362.1   None
  mRNA   CR621924.1   None
  mRNA   CR624688.1   None
  mRNA   M73238.1   AAA35707.1
  other-genetic   DQ895455.2   ABM86381.1
  other-genetic   EU176339.1   ABW03790.1
Protein Accession   Links
P26992.2   GenPept   UniProtKB/Swiss-Prot:P26992
Q5T8H6   GenPept   UniProtKB/TrEMBL:Q5T8H6
Q5U050   GenPept   UniProtKB/TrEMBL:Q5U050

[Top][Help]Additional Links

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