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    Cntfr ciliary neurotrophic factor receptor [ Mus musculus (house mouse) ]

    Gene ID: 12804, updated on 31-Jan-2019

    Summary

    Official Symbol
    Cntfrprovided by MGI
    Official Full Name
    ciliary neurotrophic factor receptorprovided by MGI
    Primary source
    MGI:MGI:99605
    See related
    Ensembl:ENSMUSG00000028444
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cntfralpha
    Summary
    This gene encodes the alpha subunit of the ciliary neurotrophic factor (CNTF) receptor that triggers the assembly of a trimolecular complex upon binding to CNTF, and initiate a downstream signaling process. The encoded preproprotein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-linked cell surface protein. Mice lacking the encoded protein die shortly after birth and exhibit a reduction of motoneuron number at birth. The transgenic disruption of this gene specifically in the skeletal muscle followed by a peripheral nerve lesion impairs motor neuron axonal regeneration across the lesion site. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
    Expression
    Broad expression in adrenal adult (RPKM 8.1), cerebellum adult (RPKM 6.8) and 17 other tissues See more
    Orthologs

    Genomic context

    See Cntfr in Genome Data Viewer
    Location:
    4 A5; 4 21.81 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 4 NC_000070.6 (41657498..41697091, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (41604529..41644123, complement)

    Chromosome 4 - NC_000070.6Genomic Context describing neighboring genes Neighboring gene dynein, axonemal, intermediate chain 1 Neighboring gene predicted gene 12405 Neighboring gene energy homeostasis associated Neighboring gene ribonuclease P/MRP 25 subunit-like Neighboring gene dynactin 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to ciliary neurotrophic factor receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary neurotrophic factor receptor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    ciliary neurotrophic factor receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to ciliary neurotrophic factor receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    cytokine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytokine binding ISO
    Inferred from Sequence Orthology
    more info
     
    cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    interleukin-27 receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signaling receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    brainstem development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ciliary neurotrophic factor-mediated signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    ciliary neurotrophic factor-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    sex differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    suckling behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    CNTFR-CLCF1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    CNTFR-CLCF1 complex ISO
    Inferred from Sequence Orthology
    more info
     
    anchored component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    ciliary neurotrophic factor receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary neurotrophic factor receptor complex ISO
    Inferred from Sequence Orthology
    more info
     
    external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ciliary neurotrophic factor receptor subunit alpha
    Names
    CNTF receptor subunit alpha

    NCBI Reference Sequences (RefSeq)

    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)

    1. NM_001136056.3NP_001129528.1  ciliary neurotrophic factor receptor subunit alpha preproprotein

      See identical proteins and their annotated locations for NP_001129528.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC046974, CX202454
      Consensus CDS
      CCDS18067.1
      UniProtKB/Swiss-Prot
      O88507
      Related
      ENSMUSP00000100026.3, ENSMUST00000102961.9
      Conserved Domains (3) summary
      smart00408
      Location:3996
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31105
      IG_like; Immunoglobulin like
      cd00063
      Location:204300
      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 ...
    2. NM_016673.2NP_057882.2  ciliary neurotrophic factor receptor subunit alpha preproprotein

      See identical proteins and their annotated locations for NP_057882.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL831723, BC046974, BY715214
      Consensus CDS
      CCDS18067.1
      UniProtKB/Swiss-Prot
      O88507
      Related
      ENSMUSP00000100027.3, ENSMUST00000102962.9
      Conserved Domains (3) summary
      smart00408
      Location:3996
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31105
      IG_like; Immunoglobulin like
      cd00063
      Location:204300
      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 ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000070.6 Reference GRCm38.p4 C57BL/6J

      Range
      41657498..41697091 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006537598.2XP_006537661.1  ciliary neurotrophic factor receptor subunit alpha isoform X2

      See identical proteins and their annotated locations for XP_006537661.1

      UniProtKB/Swiss-Prot
      O88507
      Conserved Domains (3) summary
      smart00408
      Location:3996
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31105
      IG_like; Immunoglobulin like
      cd00063
      Location:204300
      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 ...
    2. XM_006537599.3XP_006537662.1  ciliary neurotrophic factor receptor subunit alpha isoform X2

      See identical proteins and their annotated locations for XP_006537662.1

      UniProtKB/Swiss-Prot
      O88507
      Conserved Domains (3) summary
      smart00408
      Location:3996
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31105
      IG_like; Immunoglobulin like
      cd00063
      Location:204300
      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 ...
    3. XM_006537597.3XP_006537660.1  ciliary neurotrophic factor receptor subunit alpha isoform X2

      See identical proteins and their annotated locations for XP_006537660.1

      UniProtKB/Swiss-Prot
      O88507
      Conserved Domains (3) summary
      smart00408
      Location:3996
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31105
      IG_like; Immunoglobulin like
      cd00063
      Location:204300
      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 ...
    4. XM_011249916.2XP_011248218.1  ciliary neurotrophic factor receptor subunit alpha isoform X2

      See identical proteins and their annotated locations for XP_011248218.1

      UniProtKB/Swiss-Prot
      O88507
      Conserved Domains (3) summary
      smart00408
      Location:3996
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31105
      IG_like; Immunoglobulin like
      cd00063
      Location:204300
      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 ...
    5. XM_011249917.2XP_011248219.1  ciliary neurotrophic factor receptor subunit alpha isoform X2

      See identical proteins and their annotated locations for XP_011248219.1

      UniProtKB/Swiss-Prot
      O88507
      Conserved Domains (3) summary
      smart00408
      Location:3996
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31105
      IG_like; Immunoglobulin like
      cd00063
      Location:204300
      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 ...
    6. XM_017319941.1XP_017175430.1  ciliary neurotrophic factor receptor subunit alpha isoform X2

      UniProtKB/Swiss-Prot
      O88507
      Conserved Domains (3) summary
      smart00408
      Location:3996
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31105
      IG_like; Immunoglobulin like
      cd00063
      Location:204300
      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 ...
    7. XM_006537596.3XP_006537659.1  ciliary neurotrophic factor receptor subunit alpha isoform X1

      Conserved Domains (3) summary
      smart00408
      Location:125182
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:117191
      IG_like; Immunoglobulin like
      cd00063
      Location:290386
      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 ...
    8. XM_017319942.1XP_017175431.1  ciliary neurotrophic factor receptor subunit alpha isoform X2

      UniProtKB/Swiss-Prot
      O88507
      Conserved Domains (3) summary
      smart00408
      Location:3996
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31105
      IG_like; Immunoglobulin like
      cd00063
      Location:204300
      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 ...

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001146080.1: Suppressed sequence

      Description
      NM_001146080.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Support Center