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

Gene ID: 177157, updated on 2-Nov-2024

Summary

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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, Nov 2024]
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Genomic context

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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

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. Regulation of Caenorhabditis elegans HLH-30 subcellular localization dynamics: Evidence for a redox-dependent mechanism. Colino-Lage H, et al. Free Radic Biol Med, 2024 Oct. PMID 39059513
  2. The TFEB orthologue HLH-30 regulates autophagy and modulates longevity in Caenorhabditis elegans. Lapierre LR, et al. Nat Commun, 2013. PMID 23925298, Free PMC Article
  3. Signalling: a new master to rival NF-κB? Bordon Y. Nat Rev Immunol, 2014 Jul. PMID 24948363
  4. A high glucose diet induces autophagy in a HLH-30/TFEB-dependent manner and impairs the normal lifespan of C. elegans. Franco-Juárez B, et al. Aging (Albany NY), 2018 Oct 5. PMID 30299269, Free PMC Article
  5. Age- and stress-associated C. elegans granulins impair lysosomal function and induce a compensatory HLH-30/TFEB transcriptional response. Butler VJ, et al. PLoS Genet, 2019 Aug. PMID 31398187, Free PMC Article

See all (98) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Regulation of Caenorhabditis elegans HLH-30 subcellular localization dynamics: Evidence for a redox-dependent mechanism.
    Title: Regulation of Caenorhabditis elegans HLH-30 subcellular localization dynamics: Evidence for a redox-dependent mechanism.
  2. Neuronal HLH-30/TFEB modulates thermoresistance and longevity in C. elegans.
    Title: Neuronal HLH-30/TFEB modulates thermoresistance and longevity in C. elegans.
  3. HLH-30-dependent rewiring of metabolism during starvation in C. elegans.
    Title: HLH-30-dependent rewiring of metabolism during starvation in C. elegans.
  4. A conserved cysteine-based redox mechanism sustains TFEB/HLH-30 activity under persistent stress.
    Title: A conserved cysteine-based redox mechanism sustains TFEB/HLH-30 activity under persistent stress.
  5. The conserved regulator of autophagy and innate immunity hlh-30/TFEB mediates tolerance of enterohemorrhagic Escherichia coli in Caenorhabditis elegans.
    Title: The conserved regulator of autophagy and innate immunity hlh-30/TFEB mediates tolerance of enterohemorrhagic Escherichia coli in Caenorhabditis elegans.
  6. Mitochondrial translation and dynamics synergistically extend lifespan in C. elegans through HLH-30.
    Title: Mitochondrial translation and dynamics synergistically extend lifespan in C. elegans through HLH-30.
  7. Study shows that C. elegans granulins production increases with age and stress, and granulin expression reduces animal fitness by impairing lysosomal protease expression and activity. This prompts cells to activate a compensatory transcriptional program involving HLH-30/TFEB nuclear translocation and up-regulation of the transcription of HLH-30/TFEB-related genes.
    Title: Age- and stress-associated C. elegans granulins impair lysosomal function and induce a compensatory HLH-30/TFEB transcriptional response.
  8. A high glucose diet induces autophagy in a HLH-30/TFEB-dependent manner and impairs the normal lifespan of C. elegans.
    Title: A high glucose diet induces autophagy in a HLH-30/TFEB-dependent manner and impairs the normal lifespan of C. elegans.
  9. HLH-30 activation is critical for sustaining survival during starvation-refeeding stress via regulating TOR.
    Title: Simple nutrients bypass the requirement for HLH-30 in coupling lysosomal nutrient sensing to survival.
  10. altering the nuclear export of HLH-30/TFEB can regulate autophagy.
    Title: Nuclear Export Inhibition Enhances HLH-30/TFEB Activity, Autophagy, and Lifespan.
Submit: New GeneRIF Correction See all GeneRIFs (18)

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 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

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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_001392289.1 → NP_001379926.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

    Status: REVIEWED

    Conserved Domains (1) summary
    cd11397
    Location:200 → 268
    bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family

  2. NM_001028243.3 → NP_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:209 → 277
    bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family

  3. NM_001028240.6 → NP_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:260 → 328
    bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family

  4. NM_001372787.4 → NP_001360026.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

    Status: REVIEWED

    Conserved Domains (1) summary
    cd11397
    Location:234 → 302
    bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family

  5. NM_068061.7 → NP_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:234 → 302
    bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family

  6. NM_068060.5 → NP_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:235 → 303
    bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family

  7. NM_001028242.6 → NP_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:175 → 243
    bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family

  8. NM_001364041.3 → NP_001350991.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

    Status: REVIEWED

    Conserved Domains (1) summary
    cd11397
    Location:184 → 252
    bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family

  9. NM_001380173.1 → NP_001368701.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

    Status: REVIEWED

    Conserved Domains (1) summary
    cd11397
    Location:209 → 277
    bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family

  10. NM_001392290.1 → NP_001379927.1  Helix-loop-helix protein 30 [Caenorhabditis elegans]

    Status: REVIEWED

    Conserved Domains (1) summary
    cd11397
    Location:97 → 165
    bHLHzip_MITF_like; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in the microphthalmia-associated transcription factor family (MITF) family
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
H2KZZ2.1

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