Human Gene PLEKHA3 (uc002umn.3)
  Description: Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 (PLEKHA3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:179,345,199-179,369,782 Size: 24,584 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr2:179,345,597-179,368,614 Size: 23,018 Coding Exon Count: 8 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:179,345,199-179,369,782)mRNA (may differ from genome)Protein (300 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PKHA3_HUMAN
DESCRIPTION: RecName: Full=Pleckstrin homology domain-containing family A member 3; Short=PH domain-containing family A member 3; AltName: Full=Phosphatidylinositol-four-phosphate adapter protein 1; Short=FAPP-1; Short=Phosphoinositol 4-phosphate adapter protein 1;
FUNCTION: Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4-phosphate (PtdIns4P).
SUBUNIT: Interacts with GTP-bound ARF1.
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein.
TISSUE SPECIFICITY: Widely expressed.
DOMAIN: The PH domain of FAPPS binds the small GTPase ARF1 and phosphatidylinositol-4-phosphate (PtdIns4P) with high selectivity, and is required for recruitment of FAPPs to the trans-Golgi network (TGN) (By similarity).
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=BAA90927.1; Type=Erroneous initiation;

-  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): PLEKHA3
CDC HuGE Published Literature: PLEKHA3

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 3.75 RPKM in Testis
Total median expression: 97.80 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 -217.20398-0.546 Picture PostScript Text
3' UTR -276.211168-0.236 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
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain

SCOP Domains:
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KCJ - NMR MuPIT 3RCP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9HB20
FrontTopSide
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008289 lipid binding
GO:0070273 phosphatidylinositol-4-phosphate binding

Biological Process:
GO:0006661 phosphatidylinositol biosynthetic process
GO:0008150 biological_process

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK314459 - Homo sapiens cDNA, FLJ95261, highly similar to Homo sapiens pleckstrin homology domain containing, family A(phosphoinositide binding specific) member 3 (PLEKHA3), mRNA.
AK074209 - Homo sapiens cDNA FLJ23629 fis, clone CAS01412, highly similar to Homo sapiens Phosphoinositol 4-phosphate Adaptor Protein-1 mRNA.
AF286162 - Homo sapiens Phosphoinositol 4-phosphate Adaptor Protein-1 mRNA, complete cds.
BC044567 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3, mRNA (cDNA clone MGC:57118 IMAGE:5262097), complete cds.
JD216907 - Sequence 197931 from Patent EP1572962.
EU832406 - Synthetic construct Homo sapiens clone HAIB:100067435; DKFZo004E0428 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 protein (PLEKHA3) gene, encodes complete protein.
EU832321 - Synthetic construct Homo sapiens clone HAIB:100067350; DKFZo008E0427 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 protein (PLEKHA3) gene, encodes complete protein.
BC039812 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3, mRNA (cDNA clone IMAGE:3850745), with apparent retained intron.
AK000074 - Homo sapiens cDNA FLJ20067 fis, clone COL01727.
DQ786259 - Homo sapiens clone HLS_IMAGE_287618 mRNA sequence.
DQ786318 - Homo sapiens clone HLS_IMAGE_815167 mRNA sequence.
JD166517 - Sequence 147541 from Patent EP1572962.
JD039880 - Sequence 20904 from Patent EP1572962.
JD303288 - Sequence 284312 from Patent EP1572962.
JD303289 - Sequence 284313 from Patent EP1572962.
JD260422 - Sequence 241446 from Patent EP1572962.
JD553298 - Sequence 534322 from Patent EP1572962.
JD131233 - Sequence 112257 from Patent EP1572962.
JD299347 - Sequence 280371 from Patent EP1572962.
JD046493 - Sequence 27517 from Patent EP1572962.
JD509373 - Sequence 490397 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9HB20 (Reactome details) participates in the following event(s):

R-HSA-8870499 PLEKHA3,8 bind PI4P, ARF1
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1483255 PI Metabolism
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: FAPP1, NM_019091, NP_061964, PKHA3_HUMAN, Q4ZG69, Q86TQ1, Q9HB20, Q9NXT3
UCSC ID: uc002umn.3
RefSeq Accession: NM_019091
Protein: Q9HB20 (aka PKHA3_HUMAN)
CCDS: CCDS33336.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_019091.3
exon count: 8CDS single in 3' UTR: no RNA size: 2516
ORF size: 903CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1841.00frame shift in genome: no % Coverage: 98.13
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.