Human Gene PLEKHA1 (ENST00000368990.8_9) from GENCODE V47lift37
  Description: pleckstrin homology domain containing A1, transcript variant 35 (from RefSeq NR_165165.1)
Gencode Transcript: ENST00000368990.8_9
Gencode Gene: ENSG00000107679.15_12
Transcript (Including UTRs)
   Position: hg19 chr10:124,134,224-124,191,861 Size: 57,638 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr10:124,152,717-124,189,454 Size: 36,738 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:124,134,224-124,191,861)mRNA (may differ from genome)Protein (404 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PKHA1_HUMAN
DESCRIPTION: RecName: Full=Pleckstrin homology domain-containing family A member 1; Short=PH domain-containing family A member 1; AltName: Full=Tandem PH domain-containing protein 1; Short=TAPP-1;
FUNCTION: Binds specifically to phosphatidylinositol 3,4- diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.
SUBUNIT: Interacts with MPDZ and PTPN13.
INTERACTION: Q9P0V3:SH3BP4; NbExp=2; IntAct=EBI-2652984, EBI-1049513;
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein. Nucleus. Note=Locates to the plasma membrane after treatments that stimulate the production of PtdIns3,4P2.
TISSUE SPECIFICITY: Highly expressed in skeletal muscle, thymus, pancreas, placenta and lung. Detected at low levels in brain, heart, peripheral blood leukocytes, testis, ovary, spinal cord, thyroid, kidney, liver, small intestine and colon.
DOMAIN: Binds to membranes enriched in PtdIns3,4P2 via the C- terminal PH domain.
SIMILARITY: Contains 2 PH domains.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: PLEKHA1
Diseases sorted by gene-association score: macular degeneration, age-related, 1 (3), eye disease (2), degeneration of macula and posterior pole (2)

-  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: 19.90 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 499.79 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 -61.50119-0.517 Picture PostScript Text
3' UTR -556.602407-0.231 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
1EAZ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9HB21
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0030165 PDZ domain binding
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding

Biological Process:
GO:0001553 luteinization
GO:0006661 phosphatidylinositol biosynthetic process
GO:0007283 spermatogenesis
GO:0008209 androgen metabolic process
GO:0008210 estrogen metabolic process
GO:0008585 female gonad development
GO:0009791 post-embryonic development
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0031529 ruffle organization
GO:0033327 Leydig cell differentiation
GO:0035264 multicellular organism growth
GO:0045184 establishment of protein localization
GO:0048008 platelet-derived growth factor receptor signaling pathway
GO:0048705 skeletal system morphogenesis
GO:0050853 B cell receptor signaling pathway
GO:0051898 negative regulation of protein kinase B signaling
GO:0060021 palate development
GO:0060325 face morphogenesis
GO:0070301 cellular response to hydrogen peroxide

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0032587 ruffle membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK314660 - Homo sapiens cDNA, FLJ95507, highly similar to Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), mRNA.
BC001136 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1, mRNA (cDNA clone MGC:2859 IMAGE:2988158), complete cds.
AK057463 - Homo sapiens cDNA FLJ32901 fis, clone TESTI2005584, highly similar to Pleckstrin homology domain-containing family A member 1.
BC042458 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1, mRNA (cDNA clone MGC:42747 IMAGE:4828008), complete cds.
AF286160 - Homo sapiens Tandem PH Domain Containing Protein-1 mRNA, complete cds.
CU692084 - Synthetic construct Homo sapiens gateway clone IMAGE:100020913 5' read PLEKHA1 mRNA.
AB528495 - Synthetic construct DNA, clone: pF1KE0696, Homo sapiens PLEKHA1 gene for pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1, without stop codon, in Flexi system.
DQ892266 - Synthetic construct clone IMAGE:100004896; FLH184711.01X; RZPDo839B01146D pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1) gene, encodes complete protein.
DQ895467 - Synthetic construct Homo sapiens clone IMAGE:100009927; FLH184707.01L; RZPDo839B01145D pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1) gene, encodes complete protein.
KJ894481 - Synthetic construct Homo sapiens clone ccsbBroadEn_03875 PLEKHA1 gene, encodes complete protein.
AB209407 - Homo sapiens mRNA for pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 variant protein.
BX647627 - Homo sapiens mRNA; cDNA DKFZp686N04110 (from clone DKFZp686N04110).
AK075159 - Homo sapiens cDNA FLJ90678 fis, clone PLACE1005736, highly similar to Pleckstrin homology domain-containing family A member 1.
AK095775 - Homo sapiens cDNA FLJ38456 fis, clone FEBRA2019867.
JD080816 - Sequence 61840 from Patent EP1572962.
JD399781 - Sequence 380805 from Patent EP1572962.
JD221290 - Sequence 202314 from Patent EP1572962.
AL133603 - Homo sapiens mRNA; cDNA DKFZp434E1515 (from clone DKFZp434E1515).
DQ594574 - Homo sapiens piRNA piR-60686, complete sequence.
BC041654 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1, mRNA (cDNA clone IMAGE:4177972).
JD021145 - Sequence 2169 from Patent EP1572962.
JD308190 - Sequence 289214 from Patent EP1572962.
JD254808 - Sequence 235832 from Patent EP1572962.
JD254809 - Sequence 235833 from Patent EP1572962.
JD022499 - Sequence 3523 from Patent EP1572962.

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

Protein Q9HB21 (Reactome details) participates in the following event(s):

R-HSA-8870332 PTPN13:PLEKHA1,2 bind PI(3,4)P2
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: B3KQ55, D3DRE2, ENST00000368990.1, ENST00000368990.2, ENST00000368990.3, ENST00000368990.4, ENST00000368990.5, ENST00000368990.6, ENST00000368990.7, NR_165165, PKHA1_HUMAN, Q9BVK0, Q9HB21, TAPP1, uc318hgc.1, uc318hgc.2
UCSC ID: ENST00000368990.8_9
RefSeq Accession: NM_001001974.4
Protein: Q9HB21 (aka PKHA1_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.