Human Gene PLEKHA4 (ENST00000263265.11_11) from GENCODE V47lift37
  Description: pleckstrin homology domain containing A4, transcript variant 1 (from RefSeq NM_020904.3)
Gencode Transcript: ENST00000263265.11_11
Gencode Gene: ENSG00000105559.13_16
Transcript (Including UTRs)
   Position: hg19 chr19:49,340,354-49,371,874 Size: 31,521 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg19 chr19:49,340,546-49,370,877 Size: 30,332 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:49,340,354-49,371,874)mRNA (may differ from genome)Protein (779 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PKHA4_HUMAN
DESCRIPTION: RecName: Full=Pleckstrin homology domain-containing family A member 4; Short=PH domain-containing family A member 4; AltName: Full=Phosphoinositol 3-phosphate-binding protein 1; Short=PEPP-1;
FUNCTION: Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides.
SUBCELLULAR LOCATION: Cytoplasm (Probable). Membrane; Peripheral membrane protein (Probable).
TISSUE SPECIFICITY: Highly expressed in melanoma. Detected at low levels in heart, skeletal muscle, kidney, liver and small intestine.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=AAH33832.1; 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


-  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: 253.84 RPKM in Nerve - Tibial
Total median expression: 721.71 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 -91.10541-0.168 Picture PostScript Text
3' UTR -63.10192-0.329 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
1UPQ - X-ray MuPIT 1UPR - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9H4M7
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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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008289 lipid binding
GO:0032266 phosphatidylinositol-3-phosphate binding

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

Cellular Component:
GO:0005575 cellular_component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC025259 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4, mRNA (cDNA clone IMAGE:4871204), with apparent retained intron.
BC033832 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4, mRNA (cDNA clone IMAGE:4186284), partial cds.
BC015956 - Homo sapiens cDNA clone IMAGE:4053512, containing frame-shift errors.
BC064601 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4, mRNA (cDNA clone MGC:70704 IMAGE:5785991), complete cds.
BC024157 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4, mRNA (cDNA clone MGC:16469 IMAGE:3953478), complete cds.
AB208908 - Homo sapiens mRNA for Pleckstrin homology domain-containing protein family A member 4 variant protein.
AY007233 - Homo sapiens phosphoinositol 3-phosphate binding protein-1 (PEPP1) mRNA, complete cds.
JD484999 - Sequence 466023 from Patent EP1572962.
JD470334 - Sequence 451358 from Patent EP1572962.
JD160132 - Sequence 141156 from Patent EP1572962.
DQ893434 - Synthetic construct clone IMAGE:100006064; FLH199523.01X; RZPDo839G0782D pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4) gene, encodes complete protein.
EU176759 - Synthetic construct Homo sapiens clone IMAGE:100011567; FLH197281.01L; RZPDo839F01256D pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4) gene, encodes complete protein.
JD196807 - Sequence 177831 from Patent EP1572962.
JD453597 - Sequence 434621 from Patent EP1572962.
JD068814 - Sequence 49838 from Patent EP1572962.
JD050452 - Sequence 31476 from Patent EP1572962.
JD441937 - Sequence 422961 from Patent EP1572962.
JD331179 - Sequence 312203 from Patent EP1572962.
JD302147 - Sequence 283171 from Patent EP1572962.
JD428989 - Sequence 410013 from Patent EP1572962.
JD174903 - Sequence 155927 from Patent EP1572962.
JD442119 - Sequence 423143 from Patent EP1572962.
JD331260 - Sequence 312284 from Patent EP1572962.
JD338973 - Sequence 319997 from Patent EP1572962.
JD232842 - Sequence 213866 from Patent EP1572962.
JD330202 - Sequence 311226 from Patent EP1572962.
JD434008 - Sequence 415032 from Patent EP1572962.
JD328119 - Sequence 309143 from Patent EP1572962.
JD440050 - Sequence 421074 from Patent EP1572962.
JD041726 - Sequence 22750 from Patent EP1572962.
JD037498 - Sequence 18522 from Patent EP1572962.

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

Protein Q9H4M7 (Reactome details) participates in the following event(s):

R-HSA-8870489 PLEKHA4,(5,6) bind PI3P
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: ENST00000263265.1, ENST00000263265.10, ENST00000263265.2, ENST00000263265.3, ENST00000263265.4, ENST00000263265.5, ENST00000263265.6, ENST00000263265.7, ENST00000263265.8, ENST00000263265.9, NM_020904, PEPP1, PKHA4_HUMAN, Q8N4M8, Q8N658, Q9H4M7, uc317hhz.1, uc317hhz.2
UCSC ID: ENST00000263265.11_11
RefSeq Accession: NM_020904.3
Protein: Q9H4M7 (aka PKHA4_HUMAN)

-  Gene Model Information
  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.