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CNTFR ciliary neurotrophic factor receptor [ Homo sapiens (human) ]

Gene ID: 1271, updated on 17-Jun-2019

Summary

Official Symbol
CNTFRprovided by HGNC
Official Full Name
ciliary neurotrophic factor receptorprovided by HGNC
Primary source
HGNC:HGNC:2170
See related
Ensembl:ENSG00000122756 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
Summary
This gene encodes a member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical role in neuronal cell survival, differentiation and gene expression. Binding of ciliary neurotrophic factor to the encoded protein recruits the transmembrane components of the receptor, gp130 and leukemia inhibitory factor receptor, facilitating signal transduction. Single nucleotide polymorphisms in this gene may be associated with variations in muscle strength, as well as early onset of eating disorders. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]
Expression
Biased expression in fat (RPKM 23.5), brain (RPKM 9.3) and 10 other tissues See more
Orthologs

Genomic context

See CNTFR in Genome Data Viewer
Location:
9p13.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (34551432..34590386, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34551425..34590713, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene dynein axonemal intermediate chain 1 Neighboring gene Sharpr-MPRA regulatory regions 5304 and 15183 Neighboring gene energy homeostasis associated Neighboring gene uncharacterized LOC105376023 Neighboring gene CNTFR antisense RNA 1 Neighboring gene ribonuclease P/MRP subunit p25 like Neighboring gene dynactin subunit 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • IL-6-type cytokine receptor ligand interactions, organism-specific biosystem (from REACTOME)
    IL-6-type cytokine receptor ligand interactions, organism-specific biosystemThe members involved in (interleukin)-6-type cytokine signalling are the IL-6, IL-11, LIF (leukaemia inhibitory factor), OSM (oncostatin M), ciliary neurotrophic factor (CNTF), cardiotrophin-1 (CTF1)...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Interleukin-6 family signaling, organism-specific biosystem (from REACTOME)
    Interleukin-6 family signaling, organism-specific biosystemThe interleukin (IL)-6 family of cytokines is defined by the shared use of the common signal transducing receptor gp130 beta-subunit. This family includes structurally and functionally related IL-6, ...
  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1774

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ciliary neurotrophic factor receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to ciliary neurotrophic factor receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
brainstem development IEA
Inferred from Electronic Annotation
more info
 
ciliary neurotrophic factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
sex differentiation IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
skeletal muscle organ development IEA
Inferred from Electronic Annotation
more info
 
suckling behavior IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
CNTFR-CLCF1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CNTFR-CLCF1 complex IDA
Inferred from Direct Assay
more info
PubMed 
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
ciliary neurotrophic factor receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary neurotrophic factor receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic component of membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
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
CNTFR-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.

Genomic

  1. NG_047044.1 RefSeqGene

    Range
    5001..43709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001207011.1NP_001193940.1  ciliary neurotrophic factor receptor subunit alpha preproprotein

    See identical proteins and their annotated locations for NP_001193940.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL160270, AL537375, BM714356, BT019824, BX364434
    Consensus CDS
    CCDS6558.1
    UniProtKB/Swiss-Prot
    P26992
    Related
    ENSP00000480451.1, ENST00000610543.4
    Conserved Domains (2) summary
    smart00408
    Location:3996
    IGc2; Immunoglobulin C-2 Type
    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_001842.5NP_001833.1  ciliary neurotrophic factor receptor subunit alpha preproprotein

    See identical proteins and their annotated locations for NP_001833.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BC001492, BI829871
    Consensus CDS
    CCDS6558.1
    UniProtKB/Swiss-Prot
    P26992
    Related
    ENSP00000242338.4, ENST00000351266.8
    Conserved Domains (2) summary
    smart00408
    Location:3996
    IGc2; Immunoglobulin C-2 Type
    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. NM_147164.3NP_671693.1  ciliary neurotrophic factor receptor subunit alpha preproprotein

    See identical proteins and their annotated locations for NP_671693.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BI829871, BM714356, DB311865, M73238
    Consensus CDS
    CCDS6558.1
    UniProtKB/Swiss-Prot
    P26992
    Related
    ENSP00000368265.3, ENST00000378980.8
    Conserved Domains (2) summary
    smart00408
    Location:3996
    IGc2; Immunoglobulin C-2 Type
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    34551432..34590386 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014263.1XP_016869752.1  ciliary neurotrophic factor receptor subunit alpha isoform X2

    UniProtKB/Swiss-Prot
    P26992
    Conserved Domains (2) summary
    smart00408
    Location:3996
    IGc2; Immunoglobulin C-2 Type
    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_017014265.1XP_016869754.1  ciliary neurotrophic factor receptor subunit alpha isoform X2

    UniProtKB/Swiss-Prot
    P26992
    Conserved Domains (2) summary
    smart00408
    Location:3996
    IGc2; Immunoglobulin C-2 Type
    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_017014261.1XP_016869750.1  ciliary neurotrophic factor receptor subunit alpha isoform X1

  4. XM_017014262.1XP_016869751.1  ciliary neurotrophic factor receptor subunit alpha isoform X1

  5. XM_017014260.1XP_016869749.1  ciliary neurotrophic factor receptor subunit alpha isoform X1

  6. XM_017014264.1XP_016869753.1  ciliary neurotrophic factor receptor subunit alpha isoform X2

    UniProtKB/Swiss-Prot
    P26992
    Conserved Domains (2) summary
    smart00408
    Location:3996
    IGc2; Immunoglobulin C-2 Type
    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 ...
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