Human Gene FGD5 (uc003bzc.3)
  Description: Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr3:14,860,469-14,976,072 Size: 115,604 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr3:14,860,579-14,974,674 Size: 114,096 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:14,860,469-14,976,072)mRNA (may differ from genome)Protein (1462 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FGD5_HUMAN
DESCRIPTION: RecName: Full=FYVE, RhoGEF and PH domain-containing protein 5; AltName: Full=Zinc finger FYVE domain-containing protein 23;
FUNCTION: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation. May play a role in regulating the actin cytoskeleton and cell shape.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell projection, ruffle membrane. Endoplasmic reticulum. Golgi apparatus. Early endosome. Note=In peripheral membrane ruffles, colocolizes with F- actin. In confluent HUVECs, detected at cell-cell-contact sites where it colocalizes with vascular endothelial cadherin/CDH5.
TISSUE SPECIFICITY: Expressed in endothelial cells (at protein level).
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 FYVE-type zinc finger.
SIMILARITY: Contains 2 PH domains.
SEQUENCE CAUTION: Sequence=BAC04878.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04989.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC85128.1; Type=Frameshift; Positions=79; Sequence=CAD98090.1; Type=Erroneous termination; Positions=1279; Note=Translated as Lys;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FGD5
CDC HuGE Published Literature: FGD5
Positive Disease Associations: Albumins
Related Studies:
  1. Albumins
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.87 RPKM in Adipose - Subcutaneous
Total median expression: 232.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.75110-0.170 Picture PostScript Text
3' UTR -424.011398-0.303 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000219 - DH-domain
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000306 - Znf_FYVE
IPR017455 - Znf_FYVE-rel
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00169 - PH domain
PF00621 - RhoGEF domain
PF01363 - FYVE zinc finger

SCOP Domains:
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3MPX - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q6ZNL6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
      
      
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0031267 small GTPase binding
GO:0046872 metal ion binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0008360 regulation of cell shape
GO:0030036 actin cytoskeleton organization
GO:0035023 regulation of Rho protein signal transduction
GO:0043087 regulation of GTPase activity
GO:0046847 filopodium assembly

Cellular Component:
GO:0001726 ruffle
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030027 lamellipodium
GO:0032587 ruffle membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK131078 - Homo sapiens mRNA for FLJ00274 protein.
BC132814 - Homo sapiens FYVE, RhoGEF and PH domain containing 5, mRNA (cDNA clone MGC:164445 IMAGE:40146836), complete cds.
BC132816 - Homo sapiens FYVE, RhoGEF and PH domain containing 5, mRNA (cDNA clone MGC:164447 IMAGE:40146838), complete cds.
BC144300 - Homo sapiens FYVE, RhoGEF and PH domain containing 5, mRNA (cDNA clone MGC:177837 IMAGE:9052820), complete cds.
BX640820 - Homo sapiens mRNA; cDNA DKFZp686L24189 (from clone DKFZp686L24189).
AK097276 - Homo sapiens cDNA FLJ39957 fis, clone SPLEN2025017.
BX538312 - Homo sapiens mRNA; cDNA DKFZp686G03130 (from clone DKFZp686G03130); complete cds.
AK123054 - Homo sapiens cDNA FLJ41059 fis, clone TESTI2026505, highly similar to FYVE, RhoGEF and PH domain-containing protein 5.
BC035364 - Homo sapiens FYVE, RhoGEF and PH domain containing 5, mRNA (cDNA clone IMAGE:5171976), complete cds.
JF432210 - Synthetic construct Homo sapiens clone IMAGE:100073374 FYVE, RhoGEF and PH domain containing 5 (FGD5) gene, encodes complete protein.
KJ903892 - Synthetic construct Homo sapiens clone ccsbBroadEn_13286 FGD5 gene, encodes complete protein.
CU690080 - Synthetic construct Homo sapiens gateway clone IMAGE:100019821 5' read FGD5 mRNA.
JD120944 - Sequence 101968 from Patent EP1572962.
JD204980 - Sequence 186004 from Patent EP1572962.
JD231778 - Sequence 212802 from Patent EP1572962.
DQ588128 - Homo sapiens piRNA piR-55240, complete sequence.
JD462209 - Sequence 443233 from Patent EP1572962.
JD469249 - Sequence 450273 from Patent EP1572962.
JD547093 - Sequence 528117 from Patent EP1572962.
JD222069 - Sequence 203093 from Patent EP1572962.
JD370672 - Sequence 351696 from Patent EP1572962.
JD478944 - Sequence 459968 from Patent EP1572962.
AK096856 - Homo sapiens cDNA FLJ39537 fis, clone PUAEN2007898, weakly similar to Faciogenital dysplasia homolog.
BC040614 - Homo sapiens FYVE, RhoGEF and PH domain containing 5, mRNA (cDNA clone IMAGE:5562052), partial cds.
JD123334 - Sequence 104358 from Patent EP1572962.
AK057128 - Homo sapiens cDNA FLJ32566 fis, clone SPLEN2000047.
JD506980 - Sequence 488004 from Patent EP1572962.
JD253658 - Sequence 234682 from Patent EP1572962.
JD093440 - Sequence 74464 from Patent EP1572962.
JD445958 - Sequence 426982 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KVQ3, FGD5_HUMAN, NM_152536, NP_689749, Q6MZY1, Q6ZNL6, Q7Z303, Q8IYP3, Q8N861, Q8N8G4, ZFYVE23
UCSC ID: uc003bzc.3
RefSeq Accession: NM_152536
Protein: Q6ZNL6 (aka FGD5_HUMAN)
CCDS: CCDS46767.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_152536.3
exon count: 20CDS single in 3' UTR: no RNA size: 5897
ORF size: 4389CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6403.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.