FGD1 - FYVE, RhoGEF and PH domain containing 1 Gene

Also Known as AAS; FGDY; MRXS16; ZFYVE3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2245

About FGD1

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:54,445,454-54,496,234 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in endometrium (RPKM 4.2), brain (RPKM 3.6) and 25 other tissues.

Summary

This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]

FGD1 Products (1)

mRNA Protein Name
NM_004463.3 NP_004454.2 FYVE, RhoGEF and PH domain-containing protein 1
Molecular Function GO Annotation Evidence References Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
8969170 GOA
enables small GTPase binding IDA
IDA: Inferred from direct assay
8969170 GOA
Biological Process GO Annotation Evidence References Source
involved in actin cytoskeleton organization IDA
IDA: Inferred from direct assay
8969170 GOA
involved in filopodium assembly IDA
IDA: Inferred from direct assay
8969170 GOA
involved in regulation of GTPase activity IDA
IDA: Inferred from direct assay
8969170 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FGD1 Protein Structure

RhoGEF

RhoGEF: RhoGEF domain (377 - 559)

PH

PH: PH domain (591 - 686)

FYVE

FYVE: FYVE zinc finger (729 - 789)

PH

PH: PH domain (824 - 916)

  • 0
  • 200
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  • 800
  • 961 a.a.
Protein Preferred Names Protein Names

FYVE, RhoGEF and PH domain-containing protein 1

  • faciogenital dysplasia 1 protein

Related Diseases

Diseases Alias
Aarskog-Scott Syndrome
  • Aarskog Syndrome

  • Faciogenital Dysplasia

  • Faciodigitogenital Syndrome

  • AAS

  • Fgdy

  • X-Linked Aarskog Syndrome

  • Intellectual Developmental Disorder, X-Linked, Syndromic 16

  • Aarskog Syndrome, X-Linked

  • Intellectual Developmental Disorder, X-Linked Syndromic 16

  • Greig'S Syndrome

  • Aarskog Scott Syndrome

  • Aarskog Disease

  • Scott Aarskog Syndrome

  • Facio-Digito-Genital Dysplasia

  • Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

  • Aarskog-Scott Syndrome ) Syndrome

Scott Syndrome
  • SCTS

  • Bdplt7

  • Prothrombin Consumption Deficiency

  • Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X

  • Bleeding Disorder, Platelet-Type, 7

  • Prothrombin Conversion Defect, Familial

  • Prothrombin Consumption Inhibitor, Familial

  • Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X

  • Familial Prothrombin Consumption Inhibitor

  • Familial Prothrombin Conversion Defect

  • Platelet-Type Bleeding Disorder 7

  • Platelet Factor X Receptor Deficiency

  • Bleeding Disorder Platelet-Type 7

  • Prothrombin Consumption Inhibitor Familial

  • Prothrombin Conversion Defect Familial

Crane-Heise Syndrome
  • Cleft Lip/Palate, Agenesis Of Clavicles And Cervical Vertebrae, And Talipes Equinovarus

Unilateral Focal Polymicrogyria
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
  • GDACCF

  • Developmental Disabilities

Brachydactyly
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
  • NSLH2

Intellectual Developmental Disorder, Autosomal Dominant 56
  • Mental Retardation, Autosomal Dominant 56

  • MRD56

  • Autosomal Dominant Mental Retardation 56

  • Autosomal Dominant Intellectual Developmental Disorder 56

  • Autosomal Dominant Intellectual Developmental Disorder-56

Diamond-Blackfan Anemia 3
  • DBA3

  • Anemia, Diamond-Blackfan, 3

  • Rps24-Related Diamond-Blackfan Anemia

  • Anemia Diamond-Blackfan 3

  • Anemia, Diamond-Blackfan, Type 3

Familial Glucocorticoid Deficiency
  • Glucocorticoid Deficiency

  • Acth Resistance

  • Adrenal Unresponsiveness To Acth

  • Hereditary Unresponsiveness To Adrenocorticotropic Hormone

  • Isolated Glucocorticoid Deficiency

  • Glucocorticoid Deficiency, Familial

  • Glucocorticoid Deficiency 1

Syphilitic Meningitis
  • Syphilitic Aseptic Meningitis

  • Meningeal Syphilis

  • Meningitis, Syphilitic

Noonan Syndrome-Like Disorder With Loose Anagen Hair
  • Noonan-Like Syndrome With Loose Anagen Hair

  • Mazzanti Syndrome

  • Ns/Lah

Robinow Syndrome
  • Acral Dysostosis With Facial And Genital Abnormalities

  • Fetal Face Syndrome

  • Robinow Dwarfism

  • Mesomelic Dwarfism-Small Genitalia Syndrome

  • Robinow-Silverman-Smith Syndrome

  • Costovertebral Segmentation Defect With Mesomelia

  • Covesdem Syndrome

  • Robinow'S Syndrome

  • Robinow-Silverman Syndrome

Tetanus Neonatorum
  • Neonatal Tetanus

  • NNT

  • Trismus Neonatorum

  • Newborn Trismus

Noonan Syndrome 1
  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus FGD1 VGNC VGNC:28964
Canis familiaris FGD1 VGNC VGNC:40833
Mus musculus FGD1 MGD MGI:104566
Felis catus FGD1 VGNC VGNC:62239
Rattus norvegicus FGD1 RGD RGD:1565188
Macaca mulatta FGD1 VGNC VGNC:72642
Others FGD1 NCBI