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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
  • 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 Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF) and Normal wtCFTR traffic / ER-to-Golgi. GO annotations related to this gene include phosphatidylinositol-4-phosphate binding and glycolipid transporter activity. An important paralog of this gene is COL4A3BP.

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.

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

Genomics for PLEKHA8 Gene

Regulatory Elements for PLEKHA8 Gene

Promoters for PLEKHA8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PLEKHA8 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLEKHA8 Gene

Chromosome:
7
Start:
30,027,404 bp from pter
End:
30,130,483 bp from pter
Size:
103,080 bases
Orientation:
Plus strand

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

Proteomics data for PLEKHA8 Gene at MOPED

Post-translational modifications for PLEKHA8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEKHA8 Gene

Antibody Products

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).
  • Contains 1 PH domain.
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.

Gene Ontology (GO) - Molecular Function for PLEKHA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017089 glycolipid transporter activity IEA,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

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for PLEKHA8 Gene COMPARTMENTS Subcellular localization image for PLEKHA8 gene
Compartment Confidence
golgi apparatus 5
cytosol 4
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for PLEKHA8 Gene

Pathways & Interactions for PLEKHA8 Gene

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

Interacting Proteins for PLEKHA8 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000397947%0d%0a9606.ENSP00000272102%0d%0a9606.ENSP00000394932%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q96JA3-PKHA8_HUMAN ENSP00000397947 for PLEKHA8 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for PLEKHA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IDA 17687330
GO:0015031 protein transport IEA --
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 Endogenous agonist at S1P1-5 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:

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 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



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.
genes like me logo Genes that share expression patterns with PLEKHA8: view

Protein tissue co-expression partners for PLEKHA8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia PLEKHA8 35
  • 92.42 (n)
  • 93.45 (a)
PLEKHA8 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHA8 35
  • 92.6 (n)
  • 94.98 (a)
PLEKHA8 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekha8 35
  • 87.8 (n)
  • 93.06 (a)
Plekha8 16
Plekha8 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PLEKHA8 35
  • 99.68 (n)
  • 99.81 (a)
PLEKHA8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekha8 35
  • 88.31 (n)
  • 91.71 (a)
oppossum
(Monodelphis domestica)
Mammalia PLEKHA8 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA8 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHA8 35
  • 72.36 (n)
  • 75.53 (a)
PLEKHA8 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHA8 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekha8 35
  • 67.96 (n)
  • 67.64 (a)
zebrafish
(Danio rerio)
Actinopterygii plekha8 35
  • 62.23 (n)
  • 62.93 (a)
plekha8 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cert 36
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F25H2.6 36
  • 13 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL064W 35
  • 50 (n)
  • 40.22 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14476g 35
  • 48.19 (n)
  • 36.41 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GLTP1 35
  • 47.48 (n)
  • 33.81 (a)
rice
(Oryza sativa)
Liliopsida Os02g0622400 35
  • 48.05 (n)
  • 35.17 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07947 35
  • 48.09 (n)
  • 36.98 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
CSA.10173 36
  • 28 (a)
ManyToMany
Species with no ortholog for PLEKHA8:
  • 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 Sequence Context AA Info Type
VAR_035444 A breast cancer sample
rs995019 -- 30,075,174(+) GGAGG(C/G)CGGTA intron-variant, utr-variant-3-prime
rs995043 -- 30,071,946(+) TGTAC(A/G)CTTTG intron-variant
rs974511 -- 30,056,868(+) aaatt(C/T)atatg intron-variant
rs876050 -- 30,079,794(-) GTTTA(C/T)TGAAA intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv365765 CNV Loss 16902084
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)

Relevant External Links for PLEKHA8 Gene

HapMap Linkage Disequilibrium report
PLEKHA8

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

Disorders for PLEKHA8 Gene

Relevant External Links for PLEKHA8

Genetic Association Database (GAD)
PLEKHA8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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.J. … Alessi D.R. (Biochem. J. 2000) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Modulation of hepatitis C virus genome replication by glycosphingolipids and four-phosphate adaptor protein 2. (PMID: 25122779) Khan I. … Konan K.V. (J. Virol. 2014) 3
  4. Connecting vesicular transport with lipid synthesis: FAPP2. (PMID: 22266015) D'Angelo G. … De Matteis M.A. (Biochim. Biophys. Acta 2012) 3
  5. Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. (PMID: 22675492) Prescott J. … De Vivo I. (PLoS ONE 2012) 3

Products for PLEKHA8 Gene

Sources for PLEKHA8 Gene

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