1. Gene
  2. FGD1 - FYVE, RhoGEF and PH domain containing 1 Gene

FGD1 - FYVE, RhoGEF and PH domain containing 1 Gene

中文名称:含 FYVE、RhoGEF 和 PH 域 1

种属: Homo sapiens

同用名: AAS; FGDY; MRXS16; ZFYVE3

基因 ID: 2245 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质包含 Dbl (DH) 和 pleckstrin (PH) 同源结构域,类似于小 GTP 结合蛋白的 Rho 家族。编码的蛋白质特异性结合 Rho 家族 GTPase Cdc42Hs,可以刺激异戊二烯化形式的 Cdc42Hs 的 GDP-GTP 交换。它还刺激丝裂原活化蛋白激酶级联,导致 c-Jun 激酶 SAPK/JNK1 激活。该基因的缺陷是 Aarskog-Scott 综合征面部生殖器发育不良和 X 连锁认知障碍的综合征形式的原因。[RefSeq 提供,2017 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_004463.3 NP_004454.2 FYVE, RhoGEF and PH domain-containing protein 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
8969170 GOA
enables small GTPase binding IDA
IDA: 通过直接分析推断
8969170 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin cytoskeleton organization IDA
IDA: 通过直接分析推断
8969170 GOA
involved in filopodium assembly IDA
IDA: 通过直接分析推断
8969170 GOA
involved in regulation of GTPase activity IDA
IDA: 通过直接分析推断
8969170 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FGD1 蛋白结构

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
  • 400
  • 600
  • 800
  • 961 a.a.
蛋白主名 其他名称

FYVE, RhoGEF and PH domain-containing protein 1

faciogenital dysplasia 1 protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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