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    clh-1 CBS domain-containing protein [ Caenorhabditis elegans ]

    Gene ID: 174821, updated on 27-Dec-2024

    Summary

    Official Symbol
    clh-1
    Official Full Name
    CBS domain-containing protein
    Primary source
    WormBase:WBGene00000528
    Locus tag
    CELE_T27D12.2
    See related
    AllianceGenome:WB:WBGene00000528
    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
    Predicted to enable voltage-gated chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to be located in membrane. Is expressed in several structures, including amphid sensillum; cephalic sheath cell; head; hypodermis; and vulva. Human ortholog(s) of this gene implicated in Becker disease; Thomsen disease; idiopathic generalized epilepsy 11; myotonia congenita; and primary hyperaldosteronism. Orthologous to human CLCN1 (chloride voltage-gated channel 1) and CLCN2 (chloride voltage-gated channel 2). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

    See clh-1 in Genome Data Viewer
    Location:
    chromosome: II
    Exon count:
    20
    Sequence:
    Chromosome: II; NC_003280.10 (11846507..11856461, complement)

    Chromosome II - NC_003280.10Genomic Context describing neighboring genes Neighboring gene ncRNA Neighboring gene Major facilitator superfamily (MFS) profile domain-containing protein Neighboring gene RNase H domain-containing protein Neighboring gene Uncharacterized protein Neighboring gene ncRNA

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables voltage-gated chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables voltage-gated chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic 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 membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    CBS domain-containing protein
    NP_001022373.1
    • Confirmed by transcript evidence
    NP_001382719.1
    • Partially confirmed by transcript evidence
    NP_001382720.1
    • Partially confirmed by transcript evidence
    NP_001382723.1
    • Confirmed by transcript evidence
    NP_001417598.1
    • Confirmed by transcript evidence
    NP_001417599.1
    • Confirmed by transcript evidence
    NP_001417851.1
    • 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_003280.10 Reference assembly

      Range
      11846507..11856461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001430676.1NP_001417598.1  CBS domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A8D9MJ86, Q9U6W8
    2. NM_001430932.1NP_001417851.1  CBS domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      G5EDQ0, Q9U6W8
    3. NM_001027202.8NP_001022373.1  CBS domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001022373.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q22833, Q9U6W8
      Conserved Domains (3) summary
      cd03683
      Location:124607
      ClC_1_like; ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is ...
      cd04591
      Location:768840
      CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
      pfam00654
      Location:182585
      Voltage_CLC; Voltage gated chloride channel
    4. NM_001395809.1NP_001382720.1  CBS domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A8D9MHU6, Q9U6W8
      Conserved Domains (2) summary
      cd03683
      Location:129612
      ClC_1_like; ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is ...
      cd04591
      Location:625845
      CBS_pair_voltage-gated_CLC_euk_bac; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the voltage gated CLC (chloride channel) in eukaryotes and bacteria
    5. NM_001395810.1NP_001382719.1  CBS domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A8D9MJW7, Q9U6W8
      Conserved Domains (2) summary
      cd03683
      Location:191674
      ClC_1_like; ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is ...
      cd04591
      Location:687907
      CBS_pair_voltage-gated_CLC_euk_bac; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the voltage gated CLC (chloride channel) in eukaryotes and bacteria
    6. NM_001430677.1NP_001417599.1  CBS domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A8D9I637, Q9U6W8
    7. NM_001395813.1NP_001382723.1  CBS domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A8D9I7J7, Q9U6W8
      Conserved Domains (2) summary
      cd03683
      Location:72555
      ClC_1_like; ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is ...
      cd04591
      Location:568795
      CBS_pair_voltage-gated_CLC_euk_bac; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the voltage gated CLC (chloride channel) in eukaryotes and bacteria