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    Fgd1 FYVE, RhoGEF and PH domain containing 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 363460, updated on 4-Jan-2025

    Summary

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    Symbol
    Fgd1provided by RGD
    Full Name
    FYVE, RhoGEF and PH domain containing 1provided by RGD
    Primary source
    RGD:1565188
    See related
    EnsemblRapid:ENSRNOG00000038970 AllianceGenome:RGD:1565188
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in actin cytoskeleton organization; filopodium assembly; and regulation of cell shape. Predicted to be located in Golgi apparatus; lamellipodium; and ruffle. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in X-linked Aarskog syndrome and non-syndromic X-linked intellectual disability. Orthologous to human FGD1 (FYVE, RhoGEF and PH domain containing 1). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Biased expression in Brain (RPKM 82.4), Heart (RPKM 68.6) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Fgd1 in Genome Data Viewer
    Location:
    Xq12
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (23466791..23509773)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (20023746..20066734)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (20100942..20143871)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene large ribosomal subunit protein eL21-like Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1, pseudogene 13 Neighboring gene serine and arginine rich splicing factor 5, pseudogene 1 Neighboring gene TSR2, ribosome maturation factor Neighboring gene ribosomal protein S12, pseudogene Neighboring gene WNK lysine deficient protein kinase 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. Al-Semari A, et al. Clin Dysmorphol, 2013 Jan. PMID 23211637
    2. Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. Orrico A, et al. Am J Med Genet A, 2010 Feb. PMID 20082460
    3. Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer. Ayala I, et al. Cancer Res, 2009 Feb 1. PMID 19141649
    4. Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. Shalev SA, et al. Am J Med Genet A, 2006 Jan 15. PMID 16353258
    5. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Lebel RR, et al. Clin Genet, 2002 Feb. PMID 11940089

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in filopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in filopodium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cell shape ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lamellipodium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ruffle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    FYVE, RhoGEF and PH domain-containing protein 1
    Names
    FYVE, RhoGEF and PH domain-containing protein 1-like

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001037546.1 → NP_001032635.1  FYVE, RhoGEF and PH domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001032635.1

      Status: PROVISIONAL

      Source sequence(s)
      BC110051
      UniProtKB/TrEMBL
      A0A8I6AC87, A6KL97, Q2YDU5
      Conserved Domains (6) summary
      cd13236
      Location:647 → 752
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd01219
      Location:423 → 530
      PH1_FGD1; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia protein 1, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:557 → 621
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
      pfam00169
      Location:423 → 520
      PH; PH domain
      pfam00621
      Location:209 → 392
      RhoGEF; RhoGEF domain
      pfam02354
      Location:75 → 163
      Latrophilin; Latrophilin Cytoplasmic C-terminal region

    2. NM_001414732.1 → NP_001401661.1  FYVE, RhoGEF and PH domain-containing protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000021
      UniProtKB/TrEMBL
      A0A8I5ZMG2
      Related
      ENSRNOP00000079256.1, ENSRNOT00000093576.3

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086039.1 Reference GRCr8

      Range
      23466791..23509773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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