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Aliases for PLEKHA3 Gene

Aliases for PLEKHA3 Gene

  • Pleckstrin Homology Domain Containing A3 2 3 5
  • Pleckstrin Homology Domain-Containing, Family A (Phosphoinositide Binding Specific) Member 3 2 3
  • Pleckstrin Homology Domain Containing, Family A (Phosphoinositide Binding Specific) Member 3 2 3
  • Phosphatidylinositol-Four-Phosphate Adapter Protein 1 3 4
  • Phosphoinositol 4-Phosphate Adapter Protein 1 3 4
  • PH Domain-Containing Family A Member 3 3 4
  • Four-Phosphate-Adaptor Protein 1 2 3
  • FAPP-1 3 4
  • FAPP1 3 4

External Ids for PLEKHA3 Gene

Previous GeneCards Identifiers for PLEKHA3 Gene

  • GC02P177407
  • GC02P178016
  • GC02P179308
  • GC02P179547
  • GC02P179170
  • GC02P179053
  • GC02P179345
  • GC02P171215

Summaries for PLEKHA3 Gene

GeneCards Summary for PLEKHA3 Gene

PLEKHA3 (Pleckstrin Homology Domain Containing A3) is a Protein Coding gene. Diseases associated with PLEKHA3 include legionaire disease. Among its related pathways are Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF). GO annotations related to this gene include phospholipid binding and 1-phosphatidylinositol binding. An important paralog of this gene is COL4A3BP.

UniProtKB/Swiss-Prot for PLEKHA3 Gene

  • Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4-phosphate (PtdIns4P).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHA3 Gene

Genomics for PLEKHA3 Gene

Regulatory Elements for PLEKHA3 Gene

Promoters for PLEKHA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PLEKHA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLEKHA3 Gene

Chromosome:
2
Start:
178,480,410 bp from pter
End:
178,516,462 bp from pter
Size:
36,053 bases
Orientation:
Plus strand

Genomic View for PLEKHA3 Gene

Genes around PLEKHA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHA3 Gene

Proteins for PLEKHA3 Gene

  • Protein details for PLEKHA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB20-PKHA3_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family A member 3
    Protein Accession:
    Q9HB20
    Secondary Accessions:
    • Q4ZG69
    • Q86TQ1
    • Q9NXT3

    Protein attributes for PLEKHA3 Gene

    Size:
    300 amino acids
    Molecular mass:
    33861 Da
    Quaternary structure:
    • Interacts with GTP-bound ARF1.
    SequenceCaution:
    • Sequence=BAA90927.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLEKHA3 Gene

neXtProt entry for PLEKHA3 Gene

Proteomics data for PLEKHA3 Gene at MOPED

Post-translational modifications for PLEKHA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEKHA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLEKHA3 Gene

Domains & Families for PLEKHA3 Gene

Gene Families for PLEKHA3 Gene

Protein Domains for PLEKHA3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HB20

UniProtKB/Swiss-Prot:

PKHA3_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 PLEKHA3: view

Function for PLEKHA3 Gene

Molecular function for PLEKHA3 Gene

UniProtKB/Swiss-Prot Function:
Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4-phosphate (PtdIns4P).

Phenotypes for PLEKHA3 Gene

genes like me logo Genes that share phenotypes with PLEKHA3: view

Animal Model Products

CRISPR Products

miRNA for PLEKHA3 Gene

miRTarBase miRNAs that target PLEKHA3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHA3 Gene

Localization for PLEKHA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHA3 Gene

Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLEKHA3 Gene COMPARTMENTS Subcellular localization image for PLEKHA3 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
nucleus 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PLEKHA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PLEKHA3: view

Pathways & Interactions for PLEKHA3 Gene

genes like me logo Genes that share pathways with PLEKHA3: view

Pathways by source for PLEKHA3 Gene

Interacting Proteins for PLEKHA3 Gene

STRING Interaction Network Preview (showing 1 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.ENSP00000234453%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q9HB20-PKHA3_HUMAN ENSP00000234453 for PLEKHA3 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for PLEKHA3 Gene

None

No data available for SIGNOR curated interactions for PLEKHA3 Gene

Drugs & Compounds for PLEKHA3 Gene

No Compound Related Data Available

Transcripts for PLEKHA3 Gene

Unigene Clusters for PLEKHA3 Gene

Pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHA3 Gene

No ASD Table

Relevant External Links for PLEKHA3 Gene

GeneLoc Exon Structure for
PLEKHA3
ECgene alternative splicing isoforms for
PLEKHA3

Expression for PLEKHA3 Gene

mRNA expression in normal human tissues for PLEKHA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEKHA3 Gene

This gene is overexpressed in Testis (27.3), Pancreas (25.0), and Prostate (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for PLEKHA3 Gene



SOURCE GeneReport for Unigene cluster for PLEKHA3 Gene Hs.41086

mRNA Expression by UniProt/SwissProt for PLEKHA3 Gene

Q9HB20-PKHA3_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with PLEKHA3: view

Protein tissue co-expression partners for PLEKHA3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PLEKHA3 Gene

Orthologs for PLEKHA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHA3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PLEKHA3 35
  • 93.11 (n)
  • 95 (a)
PLEKHA3 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHA3 35
  • 94.58 (n)
  • 96.19 (a)
PLEKHA3 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekha3 35
  • 87.68 (n)
  • 92.88 (a)
Plekha3 16
Plekha3 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PLEKHA3 35
  • 99.89 (n)
  • 100 (a)
PLEKHA3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekha3 35
  • 88.74 (n)
  • 91.97 (a)
oppossum
(Monodelphis domestica)
Mammalia PLEKHA3 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA3 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHA3 35
  • 81.11 (n)
  • 85.33 (a)
PLEKHA3 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHA3 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekha3 35
  • 75.71 (n)
  • 78.64 (a)
zebrafish
(Danio rerio)
Actinopterygii plekha3 35
  • 65.62 (n)
  • 68.4 (a)
zgc63749 35
plekha3 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cert 36
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F25H2.6 36
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 4 (a)
ManyToMany
-- 36
  • 8 (a)
ManyToMany
CSA.10173 36
  • 22 (a)
ManyToMany
Species with no ortholog for PLEKHA3:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • bread mold (Neurospora crassa)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLEKHA3 Gene

ENSEMBL:
Gene Tree for PLEKHA3 (if available)
TreeFam:
Gene Tree for PLEKHA3 (if available)

Paralogs for PLEKHA3 Gene

Paralogs for PLEKHA3 Gene

(2) SIMAP similar genes for PLEKHA3 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for PLEKHA3 Gene

genes like me logo Genes that share paralogs with PLEKHA3: view

Variants for PLEKHA3 Gene

Sequence variations from dbSNP and Humsavar for PLEKHA3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs735713 -- 178,490,837(+) CCTTG(G/T)GGTGA intron-variant
rs1047500 -- 178,505,057(-) GATGT(G/T)TTTGA downstream-variant-500B, utr-variant-3-prime
rs1047503 -- 178,505,238(-) TGAAA(A/T)AAAAT downstream-variant-500B, utr-variant-3-prime
rs1063160 -- 178,504,693(-) AAATT(C/T)TCTTC utr-variant-3-prime
rs967507 -- 178,502,359(+) AGGAA(A/G)GAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHA3 Gene

Variant ID Type Subtype PubMed ID
nsv834467 CNV Loss 17160897
nsv834468 CNV Gain 17160897
esv1002693 CNV Deletion 20482838

Variation tolerance for PLEKHA3 Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEKHA3 Gene

HapMap Linkage Disequilibrium report
PLEKHA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHA3 Gene

Disorders for PLEKHA3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLEKHA3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
legionaire disease
  • legionnaires' disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PLEKHA3

Genetic Association Database (GAD)
PLEKHA3
Human Genome Epidemiology (HuGE) Navigator
PLEKHA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHA3
genes like me logo Genes that share disorders with PLEKHA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHA3 Gene

Publications for PLEKHA3 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 23 67
  2. FAPPs control Golgi-to-cell-surface membrane traffic by binding to ARF and PtdIns(4)P. (PMID: 15107860) Godi A. … De Matteis M.A. (Nat. Cell Biol. 2004) 2 3
  3. Recruitment of PLANT U-BOX13 and the PI4KI^1/I^2 phosphatidylinositol-4 kinases by the small GTPase RabA4B plays important roles during salicylic acid-mediated plant defense signaling in Arabidopsis. (PMID: 25634989) Antignani V. … Nielsen E. (Plant Cell 2015) 3
  4. Interaction of Fapp1 with Arf1 and PI4P at a membrane surface: an example of coincidence detection. (PMID: 24462251) Liu Y. … Prestegard J.H. (Structure 2014) 3
  5. Secondary structure and 1H, 13C, 15N resonance assignments of the Golgi-specific PH domain of FAPP1. (PMID: 21298564) Lenoir M. … Overduin M. (Biomol NMR Assign 2011) 3

Products for PLEKHA3 Gene

Sources for PLEKHA3 Gene

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