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    hlh-30 Helix-loop-helix protein 30 [ Caenorhabditis elegans ]

    Gene ID: 177157, updated on 9-Dec-2024

    Summary

    Official Symbol
    hlh-30
    Official Full Name
    Helix-loop-helix protein 30
    Primary source
    WormBase:WBGene00020930
    Locus tag
    CELE_W02C12.3
    See related
    AllianceGenome:WB:WBGene00020930
    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 DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including defense response to bacterium; determination of adult lifespan; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within positive regulation of plasma membrane repair and positive regulation of xenophagy. Located in cytoplasm and nucleus. Is expressed in several structures, including anal depressor muscle; nervous system; rectal valve cell; reproductive system; and somatic cell. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg syndrome (multiple); familial melanoma; and renal cell carcinoma. Orthologous to several human genes including TFEC (transcription factor EC) and TFE3 (transcription factor binding to IGHM enhancer 3). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

    See hlh-30 in Genome Data Viewer
    Location:
    chromosome: IV
    Exon count:
    13
    Sequence:
    Chromosome: IV; NC_003282.8 (4014795..4034784, complement)

    Chromosome IV - NC_003282.8Genomic Context describing neighboring genes Neighboring gene C-type LECtin Neighboring gene SET domain-containing protein Neighboring gene CX3C2 protein;Proteolipid protein 2 Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene pseudo Neighboring gene DUF4200 domain-containing protein

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to toxic substance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in defense response to Gram-negative bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in defense response to Gram-positive bacterium IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in defense response to Gram-positive bacterium IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in defense response to Gram-positive bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in determination of adult lifespan IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in determination of adult lifespan IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of plasma membrane repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of xenophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    Helix-loop-helix protein 30
    NP_001023411.1
    • Confirmed by transcript evidence
    NP_001023413.1
    • Confirmed by transcript evidence
    NP_001023414.1
    • Confirmed by transcript evidence
    NP_001350991.1
    • Confirmed by transcript evidence
    NP_001360026.1
    • Confirmed by transcript evidence
    NP_001368701.1
    • Confirmed by transcript evidence
    NP_001379926.1
    • Confirmed by transcript evidence
    NP_001379927.1
    • Confirmed by transcript evidence
    NP_500461.1
    • Confirmed by transcript evidence
    NP_500462.1
    • 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
      4014795..4034784 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001392289.1NP_001379926.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

      Status: REVIEWED

      Conserved Domains (1) summary
      cd11397
      Location:200268
      bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family
    2. NM_001028243.3NP_001023414.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001023414.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      H2KZZ3
      Conserved Domains (1) summary
      cd11397
      Location:209277
      bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family
    3. NM_001028240.6NP_001023411.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001023411.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      A0A2X0RWL7, A0A2X0T4B7, H2KZZ0, H2KZZ1, H2KZZ2, H2KZZ3, H2KZZ4, Q5TYL0, Q86MJ3, Q86MJ4
      Conserved Domains (1) summary
      cd11397
      Location:260328
      bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family
    4. NM_001372787.4NP_001360026.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

      Status: REVIEWED

      Conserved Domains (1) summary
      cd11397
      Location:234302
      bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family
    5. NM_068061.7NP_500462.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_500462.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      H2KZZ0
      Conserved Domains (1) summary
      cd11397
      Location:234302
      bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family
    6. NM_068060.5NP_500461.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_500461.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      H2KZZ1
      Conserved Domains (1) summary
      cd11397
      Location:235303
      bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family
    7. NM_001028242.6NP_001023413.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001023413.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q86MJ3
      Conserved Domains (1) summary
      cd11397
      Location:175243
      bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family
    8. NM_001364041.3NP_001350991.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

      Status: REVIEWED

      Conserved Domains (1) summary
      cd11397
      Location:184252
      bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family
    9. NM_001380173.1NP_001368701.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

      Status: REVIEWED

      Conserved Domains (1) summary
      cd11397
      Location:209277
      bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family
    10. NM_001392290.1NP_001379927.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

      Status: REVIEWED

      Conserved Domains (1) summary
      cd11397
      Location:97165
      bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family