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Aliases for PLEKHA8 Gene

Aliases for PLEKHA8 Gene

  • Pleckstrin Homology Domain Containing A8 2 3 5
  • Pleckstrin Homology Domain Containing, Family A (Phosphoinositide Binding Specific) Member 8 2 3
  • Phosphatidylinositol-Four-Phosphate Adapter Protein 2 3 4
  • Serologically Defined Breast Cancer Antigen NY-BR-86 3 4
  • Phosphoinositol 4-Phosphate Adapter Protein 2 3 4
  • PH Domain-Containing Family A Member 8 3 4
  • FAPP2 3 4
  • Pleckstrin Homology Domain-Containing Family A Member 8 3
  • FAPP-2 4
  • HFAPP2 4

External Ids for PLEKHA8 Gene

Previous GeneCards Identifiers for PLEKHA8 Gene

  • GC07P029841
  • GC07P030034
  • GC07P029951

Summaries for PLEKHA8 Gene

GeneCards Summary for PLEKHA8 Gene

PLEKHA8 (Pleckstrin Homology Domain Containing A8) is a Protein Coding gene. Among its related pathways are Metabolism and Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF). Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4-phosphate binding and glycolipid transporter activity. An important paralog of this gene is PLEKHA3.

UniProtKB/Swiss-Prot for PLEKHA8 Gene

  • 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.

Additional gene information for PLEKHA8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHA8 Gene

Genomics for PLEKHA8 Gene

GeneHancer (GH) Regulatory Elements for PLEKHA8 Gene

Promoters and enhancers for PLEKHA8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I030025 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 567.8 +0.6 596 5.3 PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B PLEKHA8 FKBP14 SCRN1 ENSG00000226874 ENSG00000263683 LOC105375215 DKFZP586I1420 ENSG00000231519
GH07I030593 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.3 +568.8 568750 5.6 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 ENSG00000196295 GARS GC07M030589 ZNRF2P2 ENSG00000244480 FKBP14 ENSG00000264520 PLEKHA8 CRHR2 PIR57163
GH07I029193 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -832.3 -832295 3.3 ELF3 ZSCAN4 ARID4B KLF17 ZNF76 SIN3A ZNF2 RAD21 ZNF48 RFX5 CHN2 CPVL GC07M029191 FKBP14 PLEKHA8
GH07I030726 Enhancer 1 Ensembl ENCODE 21.8 +699.9 699893 1.8 PKNOX1 ZBTB40 TCF12 ZNF766 SCRT2 ZNF143 CAVIN1 CEBPB HDAC8 SP1 LOC105375219 CRHR2 ENSG00000264520 PLEKHA8 FKBP14 ENSG00000226874 ENSG00000223419 LOC105375220 INMT
GH07I030133 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.1 +108.0 107965 2.9 ATF1 ARID4B SIN3A DMAP1 BRCA1 ZNF48 GLIS2 E2F8 FOS ATF7 MTURN LOC105375216 ENSG00000226874 DKFZP586I1420 ENSG00000263683 PLEKHA8 ENSG00000230751
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLEKHA8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHA8 gene promoter:

Genomic Locations for PLEKHA8 Gene

Genomic Locations for PLEKHA8 Gene
chr7:30,027,404-30,130,483
(GRCh38/hg38)
Size:
103,080 bases
Orientation:
Plus strand
chr7:30,067,020-30,170,096
(GRCh37/hg19)

Genomic View for PLEKHA8 Gene

Genes around PLEKHA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHA8 Gene

Proteins for PLEKHA8 Gene

  • Protein details for PLEKHA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JA3-PKHA8_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family A member 8
    Protein Accession:
    Q96JA3
    Secondary Accessions:
    • B4DH00
    • Q7Z5V8
    • Q9BU78
    • Q9H274
    • Q9H8Z7

    Protein attributes for PLEKHA8 Gene

    Size:
    519 amino acids
    Molecular mass:
    58261 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with ARF1; the interaction together with phosphatidylinositol 4-phosphate binding is required for FAPP2 GlcCer transfer ability.
    SequenceCaution:
    • Sequence=AAG48267.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAK55424.1; Type=Erroneous termination; Positions=508; Note=Translated as Tyr.; Evidence={ECO:0000305};

    Alternative splice isoforms for PLEKHA8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHA8 Gene

Post-translational modifications for PLEKHA8 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PLEKHA8 Gene

Domains & Families for PLEKHA8 Gene

Gene Families for PLEKHA8 Gene

Protein Domains for PLEKHA8 Gene

Graphical View of Domain Structure for InterPro Entry

Q96JA3

UniProtKB/Swiss-Prot:

PKHA8_HUMAN :
  • 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).
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).
genes like me logo Genes that share domains with PLEKHA8: view

Function for PLEKHA8 Gene

Molecular function for PLEKHA8 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for PLEKHA8 Gene

Gene Ontology (GO) - Molecular Function for PLEKHA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
GO:0017089 glycolipid transporter activity IDA 17687330
GO:0051861 glycolipid binding IDA 17687330
GO:0070273 phosphatidylinositol-4-phosphate binding IDA 15107860
GO:0097001 ceramide binding IDA 17687330
genes like me logo Genes that share ontologies with PLEKHA8: view
genes like me logo Genes that share phenotypes with PLEKHA8: view

Animal Models for PLEKHA8 Gene

MGI Knock Outs for PLEKHA8:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLEKHA8 Gene

Localization for PLEKHA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHA8 Gene

Golgi apparatus, trans-Golgi network membrane. Membrane; Peripheral membrane protein. Note=Binds through its PH domain to PtdIns(4)P and ARF1, and subsequently localizes to TGN exit sites. {ECO:0000269 PubMed:15107860}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEKHA8 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 4
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLEKHA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005802 trans-Golgi network IDA 15107860
genes like me logo Genes that share ontologies with PLEKHA8: view

Pathways & Interactions for PLEKHA8 Gene

genes like me logo Genes that share pathways with PLEKHA8: view

Gene Ontology (GO) - Biological Process for PLEKHA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0006869 lipid transport IDA,IEA 17687330
GO:0015031 protein transport IEA --
GO:0035621 ER to Golgi ceramide transport IDA 17687330
genes like me logo Genes that share ontologies with PLEKHA8: view

No data available for SIGNOR curated interactions for PLEKHA8 Gene

Drugs & Compounds for PLEKHA8 Gene

(3) Drugs for PLEKHA8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
sphingosine 1-phosphate Pharma Full agonist, Agonist 0

(841) Additional Compounds for PLEKHA8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with PLEKHA8: view

Transcripts for PLEKHA8 Gene

Unigene Clusters for PLEKHA8 Gene

Pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHA8 Gene

No ASD Table

Relevant External Links for PLEKHA8 Gene

GeneLoc Exon Structure for
PLEKHA8
ECgene alternative splicing isoforms for
PLEKHA8

Expression for PLEKHA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHA8 Gene

Protein differential expression in normal tissues from HIPED for PLEKHA8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (62.4) and Placenta (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLEKHA8 Gene



Protein tissue co-expression partners for PLEKHA8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLEKHA8 Gene:

PLEKHA8

SOURCE GeneReport for Unigene cluster for PLEKHA8 Gene:

Hs.233495

mRNA Expression by UniProt/SwissProt for PLEKHA8 Gene:

Q96JA3-PKHA8_HUMAN
Tissue specificity: Expressed in kidney cell lines.

Evidence on tissue expression from TISSUES for PLEKHA8 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PLEKHA8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHA8 Gene

Orthologs for PLEKHA8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLEKHA8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHA8 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia PLEKHA8 33 34
  • 92.6 (n)
cow
(Bos Taurus)
Mammalia PLEKHA8 33 34
  • 92.42 (n)
rat
(Rattus norvegicus)
Mammalia Plekha8 33
  • 88.31 (n)
mouse
(Mus musculus)
Mammalia Plekha8 33 16 34
  • 87.8 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHA8 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA8 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHA8 33 34
  • 72.36 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHA8 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekha8 33
  • 67.96 (n)
zebrafish
(Danio rerio)
Actinopterygii plekha8 33 34
  • 62.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta cert 34
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F25H2.6 34
  • 13 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL064W 33
  • 50 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14476g 33
  • 48.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GLTP1 33
  • 47.48 (n)
rice
(Oryza sativa)
Liliopsida Os02g0622400 33
  • 48.05 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07947 33
  • 48.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
ManyToMany
CSA.10173 34
  • 28 (a)
ManyToMany
-- 34
  • 21 (a)
ManyToMany
Species where no ortholog for PLEKHA8 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLEKHA8 Gene

ENSEMBL:
Gene Tree for PLEKHA8 (if available)
TreeFam:
Gene Tree for PLEKHA8 (if available)

Paralogs for PLEKHA8 Gene

Paralogs for PLEKHA8 Gene

(2) SIMAP similar genes for PLEKHA8 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for PLEKHA8 Gene

genes like me logo Genes that share paralogs with PLEKHA8: view

Variants for PLEKHA8 Gene

Sequence variations from dbSNP and Humsavar for PLEKHA8 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs112905680 benign, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 30,026,475(+) G/C upstream_transcript_variant
rs564626031 uncertain-significance, benign, not provided, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 30,026,459(+) AAA/ upstream_transcript_variant
VAR_035444 A breast cancer sample p.Val368Glu
rs1000018590 -- 30,111,604(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000028306 -- 30,111,432(+) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHA8 Gene

Variant ID Type Subtype PubMed ID
nsv365765 CNV deletion 16902084
nsv1148830 OTHER inversion 26484159
nsv1068321 OTHER inversion 25765185
nsv1019527 CNV gain 25217958
esv3612706 CNV gain 21293372
esv3541404 CNV deletion 23714750
esv2734194 CNV deletion 23290073
esv2666428 CNV deletion 23128226

Variation tolerance for PLEKHA8 Gene

Residual Variation Intolerance Score: 56.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHA8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHA8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHA8 Gene

Disorders for PLEKHA8 Gene

Additional Disease Information for PLEKHA8

No disorders were found for PLEKHA8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHA8 Gene

Publications for PLEKHA8 Gene

  1. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. (PMID: 11001876) Dowler S … Alessi DR (The Biochemical journal 2000) 2 3 4 58
  2. Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide. (PMID: 17687330) D'Angelo G … De Matteis MA (Nature 2007) 3 4 58
  3. FAPP2 is involved in the transport of apical cargo in polarized MDCK cells. (PMID: 16103222) Vieira OV … Simons K (The Journal of cell biology 2005) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. FAPPs control Golgi-to-cell-surface membrane traffic by binding to ARF and PtdIns(4)P. (PMID: 15107860) Godi A … De Matteis MA (Nature cell biology 2004) 3 4 58

Products for PLEKHA8 Gene

Sources for PLEKHA8 Gene

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