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    Fgd1 FYVE, RhoGEF and PH domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 14163, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Fgd1provided by MGI
    Official Full Name
    FYVE, RhoGEF and PH domain containing 1provided by MGI
    Primary source
    MGI:MGI:104566
    See related
    Ensembl:ENSMUSG00000025265 AllianceGenome:MGI:104566
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ZFYVE3
    Summary
    This gene encodes a member of family of Rho-specific guanine nucleotide exchange factors. Rho-specific guanine nucleotide exchange factors catalyze the exchange of GDP for GTP and activate small GTPases, which function as molecular switches in signaling. This protein specifically binds cell division cycle 42, a Rho (Ras homology) GTPase. Investigations in mouse suggest that this protein is important for skeletal mineralization and for regulating the actin cytoskeleton. In humans, mutations in this gene are associated with faciogenital dysplasia, also known as Aarskog-Scott syndrome. [provided by RefSeq, Mar 2014]
    Expression
    Broad expression in limb E14.5 (RPKM 14.2), whole brain E14.5 (RPKM 11.1) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fgd1 in Genome Data Viewer
    Location:
    X F3; X 68.46 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (149829141..149872682)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (151046141..151089686)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene guanine nucleotide binding protein nucleolar 3 like Neighboring gene STARR-positive B cell enhancer ABC_E8765 Neighboring gene STARR-seq mESC enhancer starr_48075 Neighboring gene predicted gene, 46690 Neighboring gene TSR2 20S rRNA accumulation Neighboring gene STARR-seq mESC enhancer starr_48077 Neighboring gene STARR-seq mESC enhancer starr_48078 Neighboring gene 40S ribosomal protein S25 pseudogene Neighboring gene ribosomal protein S12, pseudogene 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Activation of G1 progression, JNK mitogen-activated protein kinase, and actin filament assembly by the exchange factor FGD1. Nagata K, et al. J Biol Chem, 1998 Jun 19. PMID 9624130
    2. CDC42 and FGD1 cause distinct signaling and transforming activities. Whitehead IP, et al. Mol Cell Biol, 1998 Aug. PMID 9671479, Free PMC Article
    3. Effect of Fgd1 on cortactin in Arp2/3 complex-mediated actin assembly. Kim K, et al. Biochemistry, 2004 Mar 9. PMID 14992579, Free PMC Article
    4. MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice. Zou W, et al. J Clin Invest, 2011 Nov. PMID 21965325, Free PMC Article
    5. Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases. Olson MF, et al. Curr Biol, 1996 Dec 1. PMID 8994827

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. activation of MLK3 specifically by FGD1/CDC42 is important for skeletal mineralization
      Title: MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.
    2. FGD1 is preferentially associated with the trans-Golgi network (TGN), suggesting its involvement in export of proteins from the Golgi.
      Title: Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation.
    3. this study provides novel in vitro and in vivo evidence that Fgd1 specifically and directly interacts with cortactin and mAbp1, and that these interactions play an important role in regulating the actin cytoskeleton and, subsequently, cell shape.
      Title: Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    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 MGI

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in filopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in filopodium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in filopodium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cell shape IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FYVE, RhoGEF and PH domain-containing protein 1
    Names
    faciogenital dysplasia 1 protein homolog
    rho/Rac GEF
    rho/Rac guanine nucleotide exchange factor FGD1
    zinc finger FYVE domain-containing protein 3

    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_008001.4 → NP_032027.2  FYVE, RhoGEF and PH domain-containing protein 1

      See identical proteins and their annotated locations for NP_032027.2

      Status: REVIEWED

      Source sequence(s)
      AI195396, AK148151, AV367660, CA328503, CN531569, CN702035
      Consensus CDS
      CCDS30467.1
      UniProtKB/Swiss-Prot
      P52734, Q921L2
      UniProtKB/TrEMBL
      Q3UG32
      Related
      ENSMUSP00000026296.8, ENSMUST00000026296.8
      Conserved Domains (5) summary
      cd00160
      Location:375 → 558
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:814 → 919
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd01219
      Location:590 → 697
      PH1_FGD1; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia protein 1, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:724 → 788
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
      pfam00169
      Location:590 → 687
      PH; PH domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      149829141..149872682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528699.5 → XP_006528762.1  FYVE, RhoGEF and PH domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A2ALP5, Q3UG32
      Related
      ENSMUSP00000108305.2, ENSMUST00000112685.8
      Conserved Domains (4) summary
      cd00160
      Location:206 → 389
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:645 → 750
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd01219
      Location:421 → 528
      PH1_FGD1; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia protein 1, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:555 → 619
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    RNA

    1. XR_004940326.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52734.2 GenPept UniProtKB/Swiss-Prot:P52734

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