Human Gene PLEKHA8 (ENST00000440706.3) Description and Page Index
  Description: Cargo transport protein that is required for apical transport from the Golgi complex. Transports AQP2 from the trans- Golgi network (TGN) to sites of AQP2 phosphorylation. Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network (TGN) to the plasma membrane and plays a pivotal role in the synthesis of complex glycosphingolipids. Binding of both phosphatidylinositol 4-phosphate (PIP) and ARF1 are essential for the GlcCer transfer ability. Also required for primary cilium formation, possibly by being involved in the transport of raft lipids to the apical membrane, and for membrane tubulation. (from UniProt Q96JA3)
Gencode Transcript: ENST00000440706.3
Gencode Gene: ENSG00000106086.20
Transcript (Including UTRs)
   Position: hg38 chr7:30,028,685-30,084,663 Size: 55,979 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg38 chr7:30,028,763-30,078,787 Size: 50,025 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:30,028,685-30,084,663)mRNA (may differ from genome)Protein (519 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtPubMedReactomeStanford SOURCE
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: PKHA8_HUMAN
DESCRIPTION: RecName: Full=Pleckstrin homology domain-containing family A member 8; Short=PH domain-containing family A member 8; AltName: Full=Phosphatidylinositol-four-phosphate adapter protein 2; Short=FAPP-2; Short=Phosphoinositol 4-phosphate adapter protein 2; Short=hFAPP2; AltName: Full=Serologically defined breast cancer antigen NY-BR-86;
FUNCTION: Cargo transport protein that is required for apical transport from the Golgi complex. Transports AQP2 from the trans- Golgi network (TGN) to sites of AQP2 phosphorylation. Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network (TGN) to the plasma membrane and plays a pivotal role in the synthesis of complex glycosphingolipids. Binding of both phosphatidylinositol 4-phosphate (PIP) and ARF1 are essential for the GlcCer transfer ability. Also required for primary cilium formation, possibly by being involved in the transport of raft lipids to the apical membrane, and for membrane tubulation.
SUBUNIT: Homodimer (By similarity). Interacts with ARF1; the interaction together with phosphatidylinositol 4-phosphate binding is required for FAPP2 GlcCer transfer ability.
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus, trans-Golgi network membrane. Membrane; Peripheral membrane protein. Note=Mainly localized to the trans-Golgi network (TGN) but also found at the rims of Golgi cisternae. Associates with ARF1 at Golgi apparatus membranes.
TISSUE SPECIFICITY: Expressed in kidney cell lines.
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).
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=AAG48267.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAK55424.1; Type=Erroneous termination; Positions=508; Note=Translated as Tyr;

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.63 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 87.08 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.7078-0.547 Picture PostScript Text
3' UTR -1629.105876-0.277 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
IPR014830 - Glycolipid_transfer_prot_dom
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF08718 - Glycolipid transfer protein (GLTP)
PF00169 - PH domain

ModBase Predicted Comparative 3D Structure on Q96JA3
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008289 lipid binding
GO:0017089 glycolipid transporter activity
GO:0051861 glycolipid binding
GO:0070273 phosphatidylinositol-4-phosphate binding
GO:0097001 ceramide binding

Biological Process:
GO:0006661 phosphatidylinositol biosynthetic process
GO:0006869 lipid transport
GO:0015031 protein transport
GO:0035621 ER to Golgi ceramide transport
GO:0046836 glycolipid transport

Cellular Component:
GO:0000139 Golgi membrane
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK294857 - Homo sapiens cDNA FLJ61247 complete cds, highly similar to Mus musculus pleckstrin homology domain containing, family A member 8, mRNA.
BC053990 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8, mRNA (cDNA clone MGC:59711 IMAGE:5922853), complete cds.
AK023180 - Homo sapiens cDNA FLJ13118 fis, clone NT2RP3002663, highly similar to Homo sapiens putative glycolipid transfer protein mRNA.
BC002838 - Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8, mRNA (cDNA clone MGC:3358 IMAGE:3635744), complete cds.
JD210979 - Sequence 192003 from Patent EP1572962.
JD272669 - Sequence 253693 from Patent EP1572962.
AF308300 - Homo sapiens serologically defined breast cancer antigen NY-BR-86 mRNA, partial cds.
JD135133 - Sequence 116157 from Patent EP1572962.
AF380162 - Homo sapiens phosphoinositol 4-phosphate adaptor protein-2 (FAPP2) mRNA, complete cds.
DQ893498 - Synthetic construct clone IMAGE:100006128; FLH194504.01X; RZPDo839C0180D pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8) gene, encodes complete protein.
DQ896458 - Synthetic construct Homo sapiens clone IMAGE:100010918; FLH194500.01L; RZPDo839C0170D pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8) gene, encodes complete protein.
CU678236 - Synthetic construct Homo sapiens gateway clone IMAGE:100019410 5' read PLEKHA8 mRNA.
KJ904920 - Synthetic construct Homo sapiens clone ccsbBroadEn_14314 PLEKHA8 gene, encodes complete protein.
MF465867 - Homo sapiens phosphatidylinositol 4-phosphate adaptor protein-2 (PLEKHA8) mRNA, complete cds.
JD183659 - Sequence 164683 from Patent EP1572962.
JD309081 - Sequence 290105 from Patent EP1572962.
JD475861 - Sequence 456885 from Patent EP1572962.
CU687768 - Synthetic construct Homo sapiens gateway clone IMAGE:100021720 5' read PLEKHA9 mRNA.
JD465575 - Sequence 446599 from Patent EP1572962.
JD272994 - Sequence 254018 from Patent EP1572962.
CR627312 - Homo sapiens mRNA; cDNA DKFZp686J09164 (from clone DKFZp686J09164).
DQ584061 - Homo sapiens piRNA piR-51173, complete sequence.
AL832700 - Homo sapiens mRNA; cDNA DKFZp313M1034 (from clone DKFZp313M1034).
AB073667 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla00798, full insert sequence.

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

Protein Q96JA3 (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: AK294857, B4DH00, FAPP2, PKHA8_HUMAN, Q7Z5V8, Q96JA3, Q9BU78, Q9H274, Q9H8Z7, uc064clz.1, uc064clz.2
UCSC ID: uc064clz.2
RefSeq Accession: NM_001197026
Protein: Q96JA3 (aka PKHA8_HUMAN)
CCDS: CCDS56473.1

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