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    alfa-1 ALS/FTD Associated gene homolog [ Caenorhabditis elegans ]

    Gene ID: 174236, updated on 2-Nov-2024

    Summary

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    Official Symbol
    alfa-1
    Official Full Name
    ALS/FTD Associated gene homolog
    Primary source
    WormBase:WBGene00017547
    Locus tag
    CELE_F18A1.6
    See related
    AllianceGenome:WB:WBGene00017547
    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 guanyl-nucleotide exchange factor activity. Predicted to be involved in autophagy and endocytosis. Predicted to be active in autophagosome and endosome. Is expressed in several structures, including intestine. Used to study amyotrophic lateral sclerosis. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis 1. Orthologous to human C9orf72 (C9orf72-SMCR8 complex subunit). [provided by Alliance of Genome Resources, Nov 2024]
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    Genomic context

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    See alfa-1 in Genome Data Viewer
    Location:
    chromosome: II
    Exon count:
    9
    Sequence:
    Chromosome: II; NC_003280.10 (7658325..7662288, complement)

    Chromosome II - NC_003280.10Genomic Context describing neighboring genes Neighboring gene Phosphodiesterase;putative 3',5'-cyclic-AMP phosphodiesterase pde-4 Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene Chondroitin proteoglycan 4 domain-containing protein Neighboring gene putative replication factor A 73 kDa subunit

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003280.10

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases. Ji YJ, et al. PLoS Genet, 2020 Apr. PMID 32282804, Free PMC Article
    2. Deciphering genetic interactions between ALS genes using C. elegans. Therrien M, et al. Worm, 2014. PMID 25254150, Free PMC Article
    3. Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans. Therrien M, et al. PLoS One, 2013. PMID 24349511, Free PMC Article
    4. A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation. Sonobe Y, et al. Nat Commun, 2021 Oct 15. PMID 34654821, Free PMC Article
    5. A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis. Corrionero A, et al. Curr Biol, 2018 May 21. PMID 29731301

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation.
      Title: A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation.
    2. Loss of alfa-1 causes the nuclear translocation of HLH-30, leading to activation of lipolysis and premature lethality. Alfa-1 regulates HLH-30 through Rag GTPases.
      Title: C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases.
    3. Loss-of-function mutations in alfa-1, the Caenorhabditis elegans ortholog of C9orf72, cause a novel phenotypic defect: endocytosed yolk is abnormally released into the extra-embryonic space, resulting in refractile "blobs."
      Title: A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis.
    4. a loss of alfa-1/C9ORF72 expression may contribute to motor neuron degeneration in a pathway associated with other known ALS genes.
      Title: Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans.
    Submit: New GeneRIF Correction

    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 guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in autophagosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ALS/FTD Associated gene homolog
    NP_495603.1
    • Product from WormBase gene class alfa;
      Confirmed by transcript evidence
    NP_495604.1
    • Product from WormBase gene class alfa;
      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
      7658325..7662288 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_063203.6 → NP_495604.1  ALS/FTD Associated gene homolog [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_495604.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      H2KYA3
      Conserved Domains (1) summary
      pfam15019
      Location:349 → 592
      C9orf72-like; C9orf72-like protein family

    2. NM_063202.9 → NP_495603.1  ALS/FTD Associated gene homolog [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_495603.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q95QK5
      Conserved Domains (1) summary
      pfam15019
      Location:352 → 595
      C9orf72-like; C9orf72-like protein family
    Nucleotide Protein
    Heading Accession and Version

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