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

Gene ID: 14163, updated on 28-Oct-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 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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