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    heh-1 Putative protein heh-1 [ Caenorhabditis elegans ]

    Gene ID: 175426, updated on 9-Dec-2024

    Summary

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    Official Symbol
    heh-1
    Official Full Name
    Putative protein heh-1
    Primary source
    WormBase:WBGene00006452
    Locus tag
    CELE_R148.6
    See related
    AllianceGenome:WB:WBGene00006452
    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 sterol binding activity. Predicted to be involved in sterol transport. Predicted to be located in extracellular region. Is expressed in body wall musculature. Human ortholog(s) of this gene implicated in Niemann-Pick disease and Niemann-Pick disease type C2. Orthologous to human NPC2 (NPC intracellular cholesterol transporter 2). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See heh-1 in Genome Data Viewer
    Location:
    chromosome: III
    Exon count:
    2
    Sequence:
    Chromosome: III; NC_003281.10 (3198477..3199516, complement)

    Chromosome III - NC_003281.10Genomic Context describing neighboring genes Neighboring gene tRNA-Tyr Neighboring gene Uncharacterized protein Neighboring gene FERM and PDZ domain-containing protein 4 Neighboring gene ncRNA

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003281.10

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Subcellular Nanorheology Reveals Lysosomal Viscosity as a Reporter for Lysosomal Storage Diseases. Devany J, et al. Nano Lett, 2018 Feb 14. PMID 29313356
    2. Comparative genomics and functional study of lipid metabolic genes in Caenorhabditis elegans. Zhang Y, et al. BMC Genomics, 2013 Mar 12. PMID 23496871, Free PMC Article
    3. Empirically controlled mapping of the Caenorhabditis elegans protein-protein interactome network. Simonis N, et al. Nat Methods, 2009 Jan. PMID 19123269, Free PMC Article
    4. EPIC: software toolkit for elution profile-based inference of protein complexes. Hu LZ, et al. Nat Methods, 2019 Aug. PMID 31308550, Free PMC Article
    5. OrthoList: a compendium of C. elegans genes with human orthologs. Shaye DD, et al. PLoS One, 2011. PMID 21647448, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables sterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sterol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Putative protein heh-1
    NP_001379800.1
    • 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_003281.10 Reference assembly

      Range
      3198477..3199516 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001393302.1 → NP_001379800.1  Putative protein heh-1 [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O17271
      Conserved Domains (1) summary
      cd00916
      Location:22 → 150
      Npc2_like; Niemann-Pick type C2 (Npc2) is a lysosomal protein in which a mutation in the gene causes a rare form of Niemann-Pick type C disease, an autosomal recessive lipid storage disorder characterized by accumulation of low-density lipoprotein-derived ...
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O17271.2

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