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FGD1

GENERAL INFORMATION

Gene name

 FGD1

Gene description

 FYVE, RhoGEF and PH domain containing 1

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Estimation of protein expression could not be performed. View primary data.

DATA RELIABILITY

Data reliability
description

 RNA-based expert annotation gave inconclusive results. Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA000911
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 FGD1 (HGNC Symbol)

Synonyms

 FGDY, ZFYVE3

Description

 FYVE, RhoGEF and PH domain containing 1 (HGNC Symbol)

Entrez gene 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 faciogenital dysplasia and X-linked mental retardation, syndromatic 16.[provided by RefSeq, Mar 2011]

Chromosome

 X

Cytoband

 p11.22

Chromosome location (bp)

 54445454 - 54496166

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000102302 (version 83.38)

Entrez gene

 2245

UniProt

 P98174 (UniProt - Evidence at protein level)

neXtProt

 NX_P98174

Antibodypedia

 FGD1 antibodies

PROTEIN BROWSER
FGD1-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
FGD1-001
ENSP00000364277
ENST00000375135
P98174 [Direct mapping]
FYVE, RhoGEF and PH domain-containing protein 1
A0A024R9Y5 [Target identity:100%; Query identity:100%]
FYVE, RhoGEF and PH domain containing 1 (Faciogenital dysplasia), isoform CRA_a
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Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0007010 [cytoskeleton organization]
GO:0007165 [signal transduction]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007275 [multicellular organismal development]
GO:0008360 [regulation of cell shape]
GO:0009887 [organ morphogenesis]
GO:0030027 [lamellipodium]
GO:0030036 [actin cytoskeleton organization]
GO:0031267 [small GTPase binding]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043065 [positive regulation of apoptotic process]
GO:0043087 [regulation of GTPase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0046847 [filopodium assembly]
GO:0046872 [metal ion binding]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0097190 [apoptotic signaling pathway]
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 961 aa
106.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.