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    exc-5 DH domain-containing protein [ Caenorhabditis elegans ]

    Gene ID: 177692, updated on 9-Dec-2024

    Summary

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    Official Symbol
    exc-5
    Official Full Name
    DH domain-containing protein
    Primary source
    WormBase:WBGene00001366
    Locus tag
    CELE_C33D9.1
    See related
    AllianceGenome:WB:WBGene00001366
    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. Involved in cell morphogenesis; epithelial cell development; and regulation of tube size. Located in several cellular components, including actin cytoskeleton; apical cortex; and cell body. Is expressed in excretory cell; hermaphrodite gonad; neurons; pharyngeal muscle cell; and rectal epithelium. Used to study Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 4H; and X-linked Aarskog syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4H; X-linked Aarskog syndrome; and non-syndromic X-linked intellectual disability. Orthologous to several human genes including FGD1 (FYVE, RhoGEF and PH domain containing 1); FGD2 (FYVE, RhoGEF and PH domain containing 2); and FGD3 (FYVE, RhoGEF and PH domain containing 3). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See exc-5 in Genome Data Viewer
    Location:
    chromosome: IV
    Exon count:
    16
    Sequence:
    Chromosome: IV; NC_003282.8 (8799081..8813670, complement)

    Chromosome IV - NC_003282.8Genomic Context describing neighboring genes Neighboring gene C-type lectin domain-containing protein Neighboring gene ncRNA Neighboring gene Glycine Rich Secreted Protein;Glycine-rich cell wall structural protein 1.8-like Neighboring gene Transposase Neighboring gene Uncharacterized 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. The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis. Gao J, et al. Hum Mol Genet, 2001 Dec 15. PMID 11751687
    2. The disease-associated formin INF2/EXC-6 organizes lumen and cell outgrowth during tubulogenesis by regulating F-actin and microtubule cytoskeletons. Shaye DD, et al. Dev Cell, 2015 Mar 23. PMID 25771894
    3. A putative GDP-GTP exchange factor is required for development of the excretory cell in Caenorhabditis elegans. Suzuki N, et al. EMBO Rep, 2001 Jun. PMID 11415987, Free PMC Article
    4. The FGD homologue EXC-5 regulates apical trafficking in C. elegans tubules. Mattingly BC, et al. Dev Biol, 2011 Nov 1. PMID 21889936, Free PMC Article
    5. A network of conserved formins, regulated by the guanine exchange factor EXC-5 and the GTPase CDC-42, modulates tubulogenesis in vivo. Shaye DD, et al. Development, 2016 Nov 15. PMID 27697907, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanyl-nucleotide exchange factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epithelial cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in filopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of actin filament binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of tube size IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in apical cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    DH domain-containing protein
    NP_001023039.1
    • Confirmed by transcript evidence
    NP_001294028.1
    • Confirmed by transcript evidence
    NP_001294029.1
    • 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
      8799081..8813670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001307100.4 → NP_001294029.1  DH domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001294029.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      G5ED03, X5LV34
      Conserved Domains (4) summary
      smart00064
      Location:676 → 727
      FYVE; Protein present in Fab1, YOTB, Vac1, and EEA1
      smart00325
      Location:336 → 514
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13388
      Location:545 → 643
      PH1_FGD1-4_like; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 1-4 and similar proteins, N-terminal Pleckstrin homology (PH) domain
      cl17171
      Location:773 → 845
      PH-like; Pleckstrin homology-like domain

    2. NM_001027868.5 → NP_001023039.1  DH domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001023039.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      G5ECM5, G5ED03
      Conserved Domains (5) summary
      smart00064
      Location:641 → 692
      FYVE; Protein present in Fab1, YOTB, Vac1, and EEA1
      cd13388
      Location:510 → 608
      PH1_FGD1-4_like; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 1-4 and similar proteins, N-terminal Pleckstrin homology (PH) domain
      pfam00169
      Location:510 → 612
      PH; PH domain
      pfam00621
      Location:301 → 479
      RhoGEF; RhoGEF domain
      cl17171
      Location:738 → 810
      PH-like; Pleckstrin homology-like domain

    3. NM_001307099.3 → NP_001294028.1  DH domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001294028.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      G5ED03, X5M8S5
      Conserved Domains (4) summary
      smart00064
      Location:574 → 625
      FYVE; Protein present in Fab1, YOTB, Vac1, and EEA1
      smart00325
      Location:234 → 412
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13388
      Location:443 → 541
      PH1_FGD1-4_like; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 1-4 and similar proteins, N-terminal Pleckstrin homology (PH) domain
      cl17171
      Location:671 → 743
      PH-like; Pleckstrin homology-like domain
    Nucleotide Protein
    Heading Accession and Version

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