Details for: FGD1

Gene ID: 2245

Symbol: FGD1

Ensembl ID: ENSG00000102302

Description: FYVE, RhoGEF and PH domain containing 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 39.3254
    Cell Significance Index: -16.2000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.6244
    Cell Significance Index: 160.9000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8039
    Cell Significance Index: 79.5200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7724
    Cell Significance Index: 154.9500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.6761
    Cell Significance Index: 14.8100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4642
    Cell Significance Index: 419.1500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4099
    Cell Significance Index: 66.6600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3804
    Cell Significance Index: 136.4500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3518
    Cell Significance Index: 38.2700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3134
    Cell Significance Index: 62.2000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3127
    Cell Significance Index: 8.7400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2552
    Cell Significance Index: 29.7500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2366
    Cell Significance Index: 14.5400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2348
    Cell Significance Index: 15.7900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2332
    Cell Significance Index: 14.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2263
    Cell Significance Index: 6.5200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2238
    Cell Significance Index: 9.9000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2163
    Cell Significance Index: 149.5700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2149
    Cell Significance Index: 12.0600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1959
    Cell Significance Index: 5.5900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1788
    Cell Significance Index: 2.4400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1756
    Cell Significance Index: 6.6500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1348
    Cell Significance Index: 3.3700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1315
    Cell Significance Index: 25.0200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1091
    Cell Significance Index: 7.5500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1066
    Cell Significance Index: 4.8300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0722
    Cell Significance Index: 9.9100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0680
    Cell Significance Index: 5.2200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0481
    Cell Significance Index: 21.2800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0467
    Cell Significance Index: 25.5000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0425
    Cell Significance Index: 2.6800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0250
    Cell Significance Index: 0.6000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0239
    Cell Significance Index: 0.5100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0239
    Cell Significance Index: 45.0800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0216
    Cell Significance Index: 0.7600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0076
    Cell Significance Index: 0.1300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0073
    Cell Significance Index: 4.6200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0058
    Cell Significance Index: 8.8600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0045
    Cell Significance Index: 8.2500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0032
    Cell Significance Index: -0.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0057
    Cell Significance Index: -7.6900
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0103
    Cell Significance Index: -0.1500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0129
    Cell Significance Index: -0.2700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0140
    Cell Significance Index: -6.3400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0145
    Cell Significance Index: -1.8600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0179
    Cell Significance Index: -13.2400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0196
    Cell Significance Index: -14.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0197
    Cell Significance Index: -3.5500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0216
    Cell Significance Index: -16.3900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0232
    Cell Significance Index: -3.3700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0260
    Cell Significance Index: -14.6600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0357
    Cell Significance Index: -0.7400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0442
    Cell Significance Index: -12.7200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0467
    Cell Significance Index: -7.9700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0484
    Cell Significance Index: -5.9500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0668
    Cell Significance Index: -0.8500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0770
    Cell Significance Index: -3.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0788
    Cell Significance Index: -16.5900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0814
    Cell Significance Index: -9.3200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0983
    Cell Significance Index: -12.7100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1051
    Cell Significance Index: -7.4300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1057
    Cell Significance Index: -1.7000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1082
    Cell Significance Index: -2.9000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1190
    Cell Significance Index: -12.3900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1365
    Cell Significance Index: -13.9400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1525
    Cell Significance Index: -4.0100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1611
    Cell Significance Index: -8.3700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1665
    Cell Significance Index: -3.2500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1823
    Cell Significance Index: -3.8700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1875
    Cell Significance Index: -13.9800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1951
    Cell Significance Index: -15.4500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2128
    Cell Significance Index: -5.4700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2162
    Cell Significance Index: -6.8900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2242
    Cell Significance Index: -11.7700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2308
    Cell Significance Index: -3.3100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2370
    Cell Significance Index: -7.7600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2390
    Cell Significance Index: -6.8500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2476
    Cell Significance Index: -7.9300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2484
    Cell Significance Index: -12.9400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2536
    Cell Significance Index: -11.9200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2538
    Cell Significance Index: -8.8200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2645
    Cell Significance Index: -5.3100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2713
    Cell Significance Index: -4.5400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2832
    Cell Significance Index: -5.6000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2851
    Cell Significance Index: -6.1600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2920
    Cell Significance Index: -10.2300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3067
    Cell Significance Index: -9.0300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3071
    Cell Significance Index: -7.6600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3516
    Cell Significance Index: -9.5700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3568
    Cell Significance Index: -4.4300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3623
    Cell Significance Index: -5.4600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.3637
    Cell Significance Index: -5.7700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3666
    Cell Significance Index: -5.2700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3739
    Cell Significance Index: -13.7300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3761
    Cell Significance Index: -7.8500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3817
    Cell Significance Index: -5.6400
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.3828
    Cell Significance Index: -4.1700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3891
    Cell Significance Index: -10.3900
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.3906
    Cell Significance Index: -2.3600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.4059
    Cell Significance Index: -2.7500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** FGD1 is a protein with a FYVE, RhoGEF, and PH domain structure, which confers its unique properties and functions. The FYVE domain is involved in binding to phosphoinositides, while the RhoGEF domain facilitates the activation of small GTPases. The PH domain, on the other hand, enables the protein to bind to phosphatidylinositol 4,5-bisphosphate (PIP2). These domains work together to regulate various cellular processes, including actin cytoskeleton organization, cell shape regulation, and signal transduction. **Pathways and Functions:** FGD1 is involved in several key cellular pathways, including: 1. **Actin Cytoskeleton Organization**: FGD1 regulates the organization of the actin cytoskeleton, which is essential for cell shape, movement, and division. 2. **Rho GTPase Cycle**: FGD1 activates small GTPases, such as RhoA and Rac1, which play crucial roles in cell signaling and cytoskeleton organization. 3. **Cell Death Signaling**: FGD1 interacts with death receptors, such as Nrage, to regulate cell death signaling pathways. 4. **Golgi Apparatus Function**: FGD1 is involved in regulating the function of the Golgi apparatus, which is essential for protein modification and secretion. 5. **Signaling by GPCRs**: FGD1 interacts with G protein-coupled receptors (GPCRs), which are key players in cell signaling pathways. **Clinical Significance:** The dysregulation of FGD1 has been implicated in various diseases, including: 1. **Neurological Disorders**: FGD1 mutations have been associated with neurological disorders, such as autism and schizophrenia. 2. **Cancer**: FGD1 is overexpressed in certain types of cancer, including breast and lung cancer. 3. **Immunological Disorders**: FGD1 is involved in regulating immune cell function and has been implicated in autoimmune diseases, such as multiple sclerosis. In conclusion, FGD1 is a multifaceted gene that plays a crucial role in various cellular processes. Its dysregulation has significant implications for human disease, and further research is needed to fully understand its functions and potential therapeutic targets.

Genular Protein ID: 1817240730

Symbol: FGD1_HUMAN

Name: FYVE, RhoGEF and PH domain-containing protein 1

UniProtKB Accession Codes:

P98174 Q5H999 Q8N4D9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 4 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 4 Ensembl 1 ExpressionAtlas 1 GO 17 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7954831

Title: Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor.

PubMed ID: 7954831

DOI: 10.1016/0092-8674(94)90552-5

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8969170

Title: The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.

PubMed ID: 8969170

DOI: 10.1074/jbc.271.52.33169

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 11093277

Title: Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.

PubMed ID: 11093277

DOI: 10.1038/sj.ejhg.5200553

PubMed ID: 10930571

Title: A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).

PubMed ID: 10930571

DOI: 10.1016/s0014-5793(00)01857-3

PubMed ID: 11940089

Title: Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.

PubMed ID: 11940089

DOI: 10.1034/j.1399-0004.2002.610209.x

PubMed ID: 14560308

Title: Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

PubMed ID: 14560308

DOI: 10.1038/sj.ejhg.5201081

Sequence Information:

  • Length: 961
  • Mass: 106561
  • Checksum: 30963F7B9931E45C
  • Sequence:
    • MHGHRAPGGA GPSEPEHPAT NPPGAAPPAC ADSDPGASEP GLLARRGSGS ALGGPLDPQF 
VGPSDTSLGA APGHRVLPCG PSPQHHRALR FSYHLEGSQP RPGLHQGNRI LVKSLSLDPG 
QSLEPHPEGP QRLRSDPGPP TETPSQRPSP LKRAPGPKPQ VPPKPSYLQM PRMPPPLEPI 
PPPPSRPLPA DPRVAKGLAP RAEASPSSAA VSSLIEKFER EPVIVASDRP VPGPSPGPPE 
PVMLPQPTSQ PPVPQLPEGE ASRCLFLLAP GPRDGEKVPN RDSGIDSISS PSNSEETCFV 
SDDGPPSHSL CPGPPALASV PVALADPHRP GSQEVDSDLE EEDDEEEEEE KDREIPVPLM 
ERQESVELTV QQKVFHIANE LLQTEKAYVS RLHLLDQVFC ARLLEEARNR SSFPADVVHG 
IFSNICSIYC FHQQFLLPEL EKRMEEWDRY PRIGDILQKL APFLKMYGEY VKNFDRAVEL 
VNTWTERSTQ FKVIIHEVQK EEACGNLTLQ HHMLEPVQRI PRYELLLKDY LLKLPHGSPD 
SKDAQKSLEL IATAAEHSNA AIRKMERMHK LLKVYELLGG EEDIVSPTKE LIKEGHILKL 
SAKNGTTQDR YLILFNDRLL YCVPRLRLLG QKFSVRARID VDGMELKESS NLNLPRTFLV 
SGKQRSLELQ ARTEEEKKDW VQAINSTLLK HEQTLETFKL LNSTNREDED TPPNSPNVDL 
GKRAPTPIRE KEVTMCMRCQ EPFNSITKRR HHCKACGHVV CGKCSEFRAR LVYDNNRSNR 
VCTDCYVALH GVPGSSPACS QHTPQRRRSI LEKQASVAAE NSVICSFLHY MEKGGKGWHK 
AWFVVPENEP LVLYIYGAPQ DVKAQRSLPL IGFEVGPPEA GERPDRRHVF KITQSHLSWY 
FSPETEELQR RWMAVLGRAG RGDTFCPGPT LSEDREMEEA PVAALGATAE PPESPQTRDK 
T

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.