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    cho-1 High-affinity choline transporter 1 [ Caenorhabditis elegans ]

    Gene ID: 178274, updated on 9-Dec-2024

    Summary

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    Official Symbol
    cho-1
    Official Full Name
    High-affinity choline transporter 1
    Primary source
    WormBase:WBGene00000501
    Locus tag
    CELE_C48D1.3
    See related
    AllianceGenome:WB:WBGene00000501
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Enables choline transmembrane transporter activity. Involved in choline transport. Located in axon; neuronal cell body; and synaptic vesicle. Is expressed in head mesodermal cell; intestine; nerve ring; and neurons. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 7; congenital myasthenic syndrome 20; and depressive disorder. Orthologous to human SLC5A7 (solute carrier family 5 member 7). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See cho-1 in Genome Data Viewer
    Location:
    chromosome: IV
    Exon count:
    9
    Sequence:
    Chromosome: IV; NC_003282.8 (13209730..13214566, complement)

    Chromosome IV - NC_003282.8Genomic Context describing neighboring genes Neighboring gene pseudo Neighboring gene VHS domain-containing protein Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003282.8

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of the high-affinity choline transporter. Okuda T, et al. Nat Neurosci, 2000 Feb. PMID 10649566
    2. Choline transport and de novo choline synthesis support acetylcholine biosynthesis in Caenorhabditis elegans cholinergic neurons. Mullen GP, et al. Genetics, 2007 Sep. PMID 17603106, Free PMC Article
    3. Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Wang H, et al. Brain, 2017 Nov 1. PMID 29088354, Free PMC Article
    4. 1-Methyl-4-propan-2-ylbenzene from Thymus vulgaris Attenuates Cholinergic Dysfunction. Sammi SR, et al. Mol Neurobiol, 2017 Sep. PMID 27599497
    5. Pheromone-sensing neurons regulate peripheral lipid metabolism in Caenorhabditis elegans. Hussey R, et al. PLoS Genet, 2017 May. PMID 28545126, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Studies to determine the impact of gene mutations on the trafficking of the Caenorhabditis elegans choline transporter orthologue revealed deficits in transporter export to axons and nerve terminals.
      Title: Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
    2. Although homozygous cho-1 null mutants are viable, they possess 40% less Acetylcholine than wild-type and display stress-dependent defects in motor activity.
      Title: The Caenorhabditis elegans choline transporter CHO-1 sustains acetylcholine synthesis and motor function in an activity-dependent manner.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables choline transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables choline transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables choline transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables choline:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in acetylcholine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in acetylcholine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in choline transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in choline transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synaptic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    High-affinity choline transporter 1
    NP_502539.1
    • Confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_003282.8 Reference assembly

      Range
      13209730..13214566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_070138.9 → NP_502539.1  High-affinity choline transporter 1 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_502539.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O02228, Q9NL58
      Conserved Domains (1) summary
      cd11474
      Location:7 → 492
      SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O02228.2

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