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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 2.33
    Marker Score: 6683
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 860
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.25
    Marker Score: 1505
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.05
    Marker Score: 9857
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 786
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.03
    Marker Score: 4185
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71803
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48027
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.99
    Marker Score: 9447
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 501
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.97
    Marker Score: 889
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 454
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.95
    Marker Score: 58731
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.95
    Marker Score: 35216
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.95
    Marker Score: 1470
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 367
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5223
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2735
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 320
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.88
    Marker Score: 7562
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5278
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.85
    Marker Score: 3277
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.84
    Marker Score: 8723
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.84
    Marker Score: 3477
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.83
    Marker Score: 12421.5
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.82
    Marker Score: 31016
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.76
    Marker Score: 15173
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 691
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.76
    Marker Score: 3170.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.72
    Marker Score: 5527
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.64
    Marker Score: 1114
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.64
    Marker Score: 9945.5
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.61
    Marker Score: 486
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.58
    Marker Score: 618
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.57
    Marker Score: 19235
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.55
    Marker Score: 3604
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.53
    Marker Score: 2467
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.49
    Marker Score: 2952
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.49
    Marker Score: 2030
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.48
    Marker Score: 183
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.43
    Marker Score: 208.5
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.43
    Marker Score: 181
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.43
    Marker Score: 114
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.42
    Marker Score: 242
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.41
    Marker Score: 166
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.41
    Marker Score: 130
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.41
    Marker Score: 128
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.4
    Marker Score: 8612
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.4
    Marker Score: 224
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.4
    Marker Score: 344
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.39
    Marker Score: 156
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.38
    Marker Score: 727
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.38
    Marker Score: 3788
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.37
    Marker Score: 459
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.36
    Marker Score: 555
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.36
    Marker Score: 244
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.36
    Marker Score: 725
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.36
    Marker Score: 258.5
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.36
    Marker Score: 124
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.35
    Marker Score: 167
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.34
    Marker Score: 94
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.34
    Marker Score: 1841.5
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.34
    Marker Score: 381.5
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.33
    Marker Score: 4397
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.32
    Marker Score: 102
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.32
    Marker Score: 755
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.32
    Marker Score: 446
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.31
    Marker Score: 92
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.31
    Marker Score: 182
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.31
    Marker Score: 357
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.31
    Marker Score: 152
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.3
    Marker Score: 150
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.3
    Marker Score: 854.5
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.3
    Marker Score: 820
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.29
    Marker Score: 291
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.29
    Marker Score: 972
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.29
    Marker Score: 82
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.29
    Marker Score: 674
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.29
    Marker Score: 354
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.29
    Marker Score: 657
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.28
    Marker Score: 274
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.28
    Marker Score: 146
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.28
    Marker Score: 533
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.28
    Marker Score: 150
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.28
    Marker Score: 80
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.27
    Marker Score: 125
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.27
    Marker Score: 290
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.27
    Marker Score: 2055
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.27
    Marker Score: 235
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.27
    Marker Score: 265.5
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.27
    Marker Score: 85
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.27
    Marker Score: 172
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.27
    Marker Score: 330
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.27
    Marker Score: 311

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * FGD1 is a protein of approximately 150 kDa. * It is expressed in a variety of cell types, including retinal cone cells, granulocyte monocyte progenitors, mesangial cells, and neurons. * FGD1 is a highly conserved protein, with a similar sequence in mammals, birds, and fish. **Pathways and functions:** * FGD1 is involved in a variety of cellular processes, including cell shape, migration, and differentiation. * It is a key regulator of the Cdc42 gtpase cycle, a signaling pathway that is involved in cell cycle regulation. * FGD1 also regulates the nrage, nrif, and nade signaling pathways, which are involved in cell death. * It is also involved in the regulation of the cytoskeleton, the G alpha (12/13) signaling events, and the Gpcr downstream signaling pathway. * FGD1 also regulates the activity of the Guanyl-nucleotide exchange factor. * It is involved in the regulation of cell shape through the Rho gtpase cycle. * FGD1 also regulates the signaling by gpcr, rho gtpases, rho btb3, and other signaling pathways. **Clinical significance:** * Mutations in the FGD1 gene have been linked to a number of human diseases, including retinal dystrophy, cancer, and stroke. * FGD1 is a potential target for the treatment of these diseases.

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 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 17 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 3 PROSITE-ProRule 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 SAM 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. For the full schema, download it here.