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    CNTF ciliary neurotrophic factor [ Homo sapiens (human) ]

    Gene ID: 1270, updated on 8-Oct-2019

    Summary

    Official Symbol
    CNTFprovided by HGNC
    Official Full Name
    ciliary neurotrophic factorprovided by HGNC
    Primary source
    HGNC:HGNC:2169
    See related
    Ensembl:ENSG00000242689 MIM:118945
    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
    HCNTF
    Summary
    The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. A read-through transcript variant composed of the upstream ZFP91 gene and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Oct 2010]
    Expression
    Broad expression in bone marrow (RPKM 2.5), testis (RPKM 0.8) and 20 other tissues See more
    Orthologs

    Genomic context

    See CNTF in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (58622665..58625733)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (58390146..58393206)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene leupaxin Neighboring gene ZFP91-CNTF readthrough (NMD candidate) Neighboring gene ZFP91 zinc finger protein Neighboring gene glycine-N-acyltransferase Neighboring gene glycine-N-acyltransferase pseudogene

    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 Functions

    What's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • 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 ...
    • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
      Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
    • 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

    Readthrough ZFP91-CNTF

    Readthrough gene: ZFP91-CNTF, Included gene: ZFP91

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ciliary neurotrophic factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    growth factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interleukin-6 receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    astrocyte activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary neurotrophic factor-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary neurotrophic factor-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    muscle organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of photoreceptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of axon regeneration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of STAT protein IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of STAT protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of retinal cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular space IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    Preferred Names
    ciliary neurotrophic factor

    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_008776.2 RefSeqGene

      Range
      4993..8061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000614.4NP_000605.1  ciliary neurotrophic factor

      See identical proteins and their annotated locations for NP_000605.1

      Status: REVIEWED

      Source sequence(s)
      AP001350, BC068030, DB241497, DB341875
      Consensus CDS
      CCDS31554.1
      UniProtKB/Swiss-Prot
      P26441
      Related
      ENSP00000355370.4, ENST00000361987.6
      Conserved Domains (1) summary
      pfam01110
      Location:1187
      CNTF; Ciliary neurotrophic factor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      58622665..58625733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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