Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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
  • Pleckstrin Homology Domain-Containing, Family A (Phosphoinositide Binding Specific) Member 3 2
  • Pleckstrin Homology Domain-Containing Family A Member 3 3

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 Metabolism and PI Metabolism. GO annotations related to this gene include phospholipid binding and 1-phosphatidylinositol binding. An important paralog of this gene is PLEKHA8.

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

Enhancers for PLEKHA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F178412 1.2 ENCODE 12.1 -66.2 -66167 2.7 HDGF ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 FKBP7 PLEKHA3 DFNB59 PRKRA LOC101927027
GH02F178448 1.1 ENCODE 13.1 -29.6 -29588 3.7 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 FKBP7 PLEKHA3 ENSG00000270574 ENSG00000237477 LOC101927027 DFNB59 PRKRA
GH02F178218 0.5 FANTOM5 13.5 -262.0 -261960 0.1 ZNF585B PPARG RXRB LOC101927027 PLEKHA3 OSBPL6 GC02M178202 GC02M178238
GH02F178438 0.4 ENCODE 11.1 -41.4 -41439 1.2 JUND ZBTB33 FKBP7 PLEKHA3 ENSG00000237477 DFNB59 LOC101927027
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLEKHA3 on UCSC Golden Path with GeneCards custom track

Promoters for PLEKHA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000603184 -1109 5000 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1
ENSR00001830028 1690 201 EGR2

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

Post-translational modifications for PLEKHA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEKHA3 Gene

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).

Gene Ontology (GO) - Molecular Function for PLEKHA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005543 phospholipid binding IDA 11001876
GO:0005545 1-phosphatidylinositol binding IEA --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with PLEKHA3: view

Phenotypes for PLEKHA3 Gene

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

Animal Models for PLEKHA3 Gene

MGI Knock Outs for PLEKHA3:

Animal Model Products

miRNA for PLEKHA3 Gene

miRTarBase miRNAs that target PLEKHA3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 PLEKHA3 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for PLEKHA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005794 Golgi apparatus IDA --
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

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: ENSP00000234453 Q9HB20-PKHA3_HUMAN for PLEKHA3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PLEKHA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with PLEKHA3: view

No data available for SIGNOR curated interactions for PLEKHA3 Gene

Transcripts for PLEKHA3 Gene

Unigene Clusters for PLEKHA3 Gene

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

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PLEKHA3 Gene



Protein tissue co-expression partners for PLEKHA3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLEKHA3 Gene:

PLEKHA3

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia PLEKHA3 34 35
  • 99.89 (n)
dog
(Canis familiaris)
Mammalia PLEKHA3 34 35
  • 94.58 (n)
cow
(Bos Taurus)
Mammalia PLEKHA3 34 35
  • 93.11 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHA3 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekha3 34
  • 88.74 (n)
mouse
(Mus musculus)
Mammalia Plekha3 34 16 35
  • 87.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA3 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHA3 34 35
  • 81.11 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHA3 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekha3 34
  • 75.71 (n)
zebrafish
(Danio rerio)
Actinopterygii plekha3 34 35
  • 65.62 (n)
zgc63749 34
fruit fly
(Drosophila melanogaster)
Insecta cert 35
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F25H2.6 35
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10173 35
  • 22 (a)
ManyToMany
-- 35
  • 8 (a)
ManyToMany
-- 35
  • 4 (a)
ManyToMany
Species where no ortholog for PLEKHA3 was found in the sources mined by GeneCards:
  • 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
rs10173624 -- 178,494,060(+) ATTCC(A/C)TAAGA intron-variant
rs10185107 -- 178,515,179(+) TCTTA(A/G)ATGAT utr-variant-3-prime
rs10185118 -- 178,515,222(+) CTCTA(A/G)AGAAA utr-variant-3-prime
rs10185204 -- 178,515,271(+) TTTCA(A/G)AATTC utr-variant-3-prime
rs1047500 -- 178,505,057(-) GATGT(G/T)TTTGA downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv834468 CNV gain 17160897
nsv834467 CNV loss 17160897
nsv1143965 CNV deletion 24896259
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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  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 4 64
  3. Molecular basis of phosphatidylinositol 4-phosphate and ARF1 GTPase recognition by the FAPP1 pleckstrin homology (PH) domain. (PMID: 21454700) He J. … Kutateladze T.G. (J. Biol. Chem. 2011) 3 4 64
  4. Structural basis of wedging the Golgi membrane by FAPP pleckstrin homology domains. (PMID: 20300118) Lenoir M. … Overduin M. (EMBO Rep. 2010) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for PLEKHA3 Gene

Sources for PLEKHA3 Gene

Content
Loading form....