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

Summary

Official Symbol: Cntfrprovided by MGI
Official Full Name: ciliary neurotrophic factor receptorprovided by MGI
Primary source: MGI:MGI:99605
See related: Ensembl:ENSMUSG00000028444 AllianceGenome:MGI:99605
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: human all
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Genomic context

Location:: 4 A5; 4 21.81 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (41657498..41697091, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (41657498..41697091, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The present data add to the evidence suggesting that enhancing muscle CNTFRalpha expression may promote motor neuron regeneration in trauma and disease.
Title: Muscle ciliary neurotrophic factor receptor α contributes to motor neuron STAT3 activation following peripheral nerve lesion.
These studies uncover new physiological roles for GDE3 in gliogenesis and identify GDE3 as a key regulator of CNTF-dependent regulation of oligodendrocyte precursor proliferation through release of CNTFRalpha.
Title: GDE3 regulates oligodendrocyte precursor proliferation via release of soluble CNTFRα.
Study proposes a novel insight that miR-696 down-regulates C2C12 cell myogenesis by inhibiting CNTFRalpha expression.
Title: MiR-696 Regulates C2C12 Cell Proliferation and Differentiation by Targeting CNTFRα.
The data, along with previous work indicating no effect of muscle specific ciliary neurotrophic factor alpha (CNTFRalpha) depletion on motor innervation, suggest that motor neuron and muscle CNTFRalpha function in concert to maintain motor neuron axons.
Title: Muscle and motor neuron ciliary neurotrophic factor receptor α together maintain adult motor neuron axons in vivo.
CNTFR expression was downregulated by androgen in the inguinoscrotal fat pad suggesting that the genitofemoral nerve may be masculinised to control gubernacular migration in the inguinoscrotal phase of testicular descent by a negative regulating mechanism in mouse embryos .
Title: Neurotrophin signaling in a genitofemoral nerve target organ during testicular descent in mice.
The data of this study data suggest that CNTF receptors may promote adult motor neuron survival.
Title: The contribution of ciliary neurotrophic factor receptors to adult motor neuron survival in vivo is specific to insult type and distinct from that for embryonic motor neurons.
CNTF-Ralpha and CNTF are present in the pre-and post-synaptic sites of the neuromuscular junction.
Title: Exogenous ciliary neurotrophic factor (CNTF) reduces synaptic depression during repetitive stimulation.
Data show that CNTF receptor alpha subunit, CNTFRalpha, signaling in leptin-responsive neurons is not required for endogenous maintenance of energy balance.
Title: The anorectic effect of CNTF does not require action in leptin-responsive neurons.
CNTF receptor signaling, likely by the MNs themselves, can play an essential role in MN survival. This role is independent of any developmental contributions CNTF receptor signaling makes to MN survival or function.
Title: Conditional, genetic disruption of ciliary neurotrophic factor receptors reveals a role in adult motor neuron survival.
Co-administration of ciliary neurotrophic factor with its soluble receptor protects against neuronal death and enhances neurite outgrowth.
Title: Co-administration of ciliary neurotrophic factor with its soluble receptor protects against neuronal death and enhances neurite outgrowth.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17Mit264 (e-PCR), detects polymorphism
- UniSTS:128075

AW553376 (e-PCR)
- UniSTS:181136

UniSTS:496823 (e-PCR)
- UniSTS:496823

Cntfr (e-PCR), detects polymorphism
- UniSTS:496823

AW987258 (e-PCR)
- UniSTS:185578

AF004927 (e-PCR)
- UniSTS:159226

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ciliary neurotrophic factor receptor activity	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to ciliary neurotrophic factor receptor activity	ISO Inferred from Sequence Orthology more info
enables ciliary neurotrophic factor receptor activity	ISO Inferred from Sequence Orthology more info
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine binding	IEA Inferred from Electronic Annotation more info
enables cytokine binding	ISO Inferred from Sequence Orthology more info
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within brainstem development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ciliary neurotrophic factor-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ciliary neurotrophic factor-mediated signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ciliary neurotrophic factor-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of motor neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of motor neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within sex differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within suckling behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of CNTFR-CLCF1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of CNTFR-CLCF1 complex	IEA Inferred from Electronic Annotation more info
part_of CNTFR-CLCF1 complex	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
part_of ciliary neurotrophic factor receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ciliary neurotrophic factor receptor complex	IEA Inferred from Electronic Annotation more info
part_of ciliary neurotrophic factor receptor complex	ISO Inferred from Sequence Orthology more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ciliary neurotrophic factor receptor subunit alpha

Names: CNTF receptor subunit alpha

NCBI Reference Sequences (RefSeq)

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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_001136056.4 → NP_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)

AL831723

Consensus CDS

CCDS18067.1

UniProtKB/Swiss-Prot

O88507, Q80T01

UniProtKB/TrEMBL

C9K0Z6, Q3UVR2

Related

ENSMUSP00000100026.4, ENSMUST00000102961.10

Conserved Domains (3) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

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 ...

cd00096
Location:39 → 47

Ig; Ig strand B [structural motif]
NM_001379211.1 → NP_001366140.1 ciliary neurotrophic factor receptor subunit alpha preproprotein

Status: REVIEWED

Source sequence(s)

AL831723

UniProtKB/Swiss-Prot

O88507, Q80T01

UniProtKB/TrEMBL

C9K0Z6, Q3UVR2

Conserved Domains (3) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

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 ...

cd00096
Location:39 → 47

Ig; Ig strand B [structural motif]
NM_001379212.1 → NP_001366141.1 ciliary neurotrophic factor receptor subunit alpha preproprotein

Status: REVIEWED

Source sequence(s)

AL831723

UniProtKB/Swiss-Prot

O88507, Q80T01

UniProtKB/TrEMBL

C9K0Z6, Q3UVR2

Conserved Domains (3) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

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 ...

cd00096
Location:39 → 47

Ig; Ig strand B [structural motif]
NM_001379213.1 → NP_001366142.1 ciliary neurotrophic factor receptor subunit alpha preproprotein

Status: REVIEWED

Source sequence(s)

AL831723

UniProtKB/Swiss-Prot

O88507, Q80T01

UniProtKB/TrEMBL

C9K0Z6, Q3UVR2

Conserved Domains (3) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

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 ...

cd00096
Location:39 → 47

Ig; Ig strand B [structural motif]
NM_001379214.1 → NP_001366143.1 ciliary neurotrophic factor receptor subunit alpha preproprotein

Status: REVIEWED

Source sequence(s)

AL831723

UniProtKB/Swiss-Prot

O88507, Q80T01

UniProtKB/TrEMBL

C9K0Z6, Q3UVR2

Conserved Domains (3) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

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 ...

cd00096
Location:39 → 47

Ig; Ig strand B [structural motif]
NM_001379215.1 → NP_001366144.1 ciliary neurotrophic factor receptor subunit alpha preproprotein

Status: REVIEWED

Source sequence(s)

AL831723

UniProtKB/Swiss-Prot

O88507, Q80T01

UniProtKB/TrEMBL

C9K0Z6, Q3UVR2

Conserved Domains (3) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

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 ...

cd00096
Location:39 → 47

Ig; Ig strand B [structural motif]
NM_001379216.1 → NP_001366145.1 ciliary neurotrophic factor receptor subunit alpha preproprotein

Status: REVIEWED

Source sequence(s)

AL831723

UniProtKB/Swiss-Prot

O88507, Q80T01

UniProtKB/TrEMBL

C9K0Z6, Q3UVR2

Conserved Domains (3) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

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 ...

cd00096
Location:39 → 47

Ig; Ig strand B [structural motif]
NM_001403746.1 → NP_001390675.1 ciliary neurotrophic factor receptor subunit alpha precursor

Status: REVIEWED

Source sequence(s)

AL831723

UniProtKB/Swiss-Prot

O88507, Q80T01
NM_001403747.1 → NP_001390676.1 ciliary neurotrophic factor receptor subunit alpha precursor

Status: REVIEWED

Source sequence(s)

AL831723

UniProtKB/Swiss-Prot

O88507, Q80T01
NM_016673.3 → NP_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

Consensus CDS

CCDS18067.1

UniProtKB/Swiss-Prot

O88507, Q80T01

UniProtKB/TrEMBL

C9K0Z6, Q3UVR2

Related

ENSMUSP00000100027.4, ENSMUST00000102962.10

Conserved Domains (3) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

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 ...

cd00096
Location:39 → 47

Ig; Ig strand B [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

41657498..41697091 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030253151.1 → XP_030109011.1 ciliary neurotrophic factor receptor subunit alpha isoform X2

UniProtKB/Swiss-Prot

O88507, Q80T01

UniProtKB/TrEMBL

C9K0Z6, Q3UVR2

Conserved Domains (3) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

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 ...

cd00096
Location:39 → 47

Ig; Ig strand B [structural motif]

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.