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

Aliases for PLEKHA4 Gene

Aliases for PLEKHA4 Gene

  • Pleckstrin Homology Domain Containing A4 2 3 5
  • PH Domain-Containing Family A Member 4 3 4
  • PEPP-1 3 4
  • PEPP1 3 4
  • Pleckstrin Homology Domain-Containing, Family A (Phosphoinositide Binding Specific) Member 4 2
  • Pleckstrin Homology Domain Containing, Family A (Phosphoinositide Binding Specific) Member 4 3
  • Phosphoinositol 3-Phosphate-Binding PH Domain Protein 1 3
  • Pleckstrin Homology Domain-Containing Family A Member 4 3
  • Phosphoinositol 3-Phosphate Binding Protein-1 3
  • Phosphoinositol 3-Phosphate-Binding Protein 1 4

External Ids for PLEKHA4 Gene

Previous GeneCards Identifiers for PLEKHA4 Gene

  • GC19M049998
  • GC19M049708
  • GC19M054016
  • GC19M054032
  • GC19M049340
  • GC19M045716

Summaries for PLEKHA4 Gene

GeneCards Summary for PLEKHA4 Gene

PLEKHA4 (Pleckstrin Homology Domain Containing A4) is a Protein Coding gene. Among its related pathways are Metabolism and PI Metabolism. GO annotations related to this gene include 1-phosphatidylinositol binding. An important paralog of this gene is PLEKHA7.

UniProtKB/Swiss-Prot for PLEKHA4 Gene

  • Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHA4 Gene

Genomics for PLEKHA4 Gene

Regulatory Elements for PLEKHA4 Gene

Enhancers for PLEKHA4 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
GH19F048898 1.1 ENCODE 26.9 -31.6 -31610 3.8 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 PLEKHA4 TEAD2 NUCB1 TULP2 PRR12 KDELR1 ENSG00000268157 PIH1D1 ENSG00000197813 RRAS
GH19F048988 1.8 FANTOM5 Ensembl ENCODE 14.8 -123.4 -123422 7.2 MLX CREB3L1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 GRWD1 TEAD2 NUP62 AKT1S1 KDELR1 ENSG00000268157 SNORD35A LOC101059948 PLEKHA4 PRR12
GH19F048395 1.8 FANTOM5 Ensembl ENCODE 14.7 +469.9 469913 6.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 ENSG00000269321 GLTSCR1 TEAD2 GRWD1 EHD2 LOC105372430 ELSPBP1 TPRX2P NTF6B NTF6A
GH19F049494 1.8 FANTOM5 Ensembl ENCODE 14.7 -630.4 -630412 9.7 CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 RPS11 SNORD35A ALDH16A1 CD37 TEAD2 PIH1D1 SNORD35B RPL18 NUP62 FLT3LG
GH19F048958 1.7 FANTOM5 ENCODE 14.8 -95.4 -95398 10.2 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ENSG00000269321 NUP62 PRR12 TEAD2 PPP1R15A RUVBL2 KDELR1 PIH1D1 GRWD1 ENSG00000268157
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLEKHA4 on UCSC Golden Path with GeneCards custom track

Promoters for PLEKHA4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000348089 532 1001 HDGF PKNOX1 ARNT YBX1 FEZF1 ZNF48 ZNF2 YY1 KLF7 SP3

Genomic Location for PLEKHA4 Gene

Chromosome:
19
Start:
48,837,092 bp from pter
End:
48,868,632 bp from pter
Size:
31,541 bases
Orientation:
Minus strand

Genomic View for PLEKHA4 Gene

Genes around PLEKHA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHA4 Gene

Proteins for PLEKHA4 Gene

  • Protein details for PLEKHA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4M7-PKHA4_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family A member 4
    Protein Accession:
    Q9H4M7
    Secondary Accessions:
    • Q8N4M8
    • Q8N658

    Protein attributes for PLEKHA4 Gene

    Size:
    779 amino acids
    Molecular mass:
    85401 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH33832.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLEKHA4 Gene

    Alternative splice isoforms for PLEKHA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHA4 Gene

Post-translational modifications for PLEKHA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PLEKHA4
  • Santa Cruz Biotechnology (SCBT) Antibodies for PLEKHA4

No data available for DME Specific Peptides for PLEKHA4 Gene

Domains & Families for PLEKHA4 Gene

Gene Families for PLEKHA4 Gene

Protein Domains for PLEKHA4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHA4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H4M7

UniProtKB/Swiss-Prot:

PKHA4_HUMAN :
  • Contains 1 PH domain.
Domain:
  • Contains 1 PH domain.
genes like me logo Genes that share domains with PLEKHA4: view

Function for PLEKHA4 Gene

Molecular function for PLEKHA4 Gene

UniProtKB/Swiss-Prot Function:
Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides.

Gene Ontology (GO) - Molecular Function for PLEKHA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005545 1-phosphatidylinositol binding NAS 11001876
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with PLEKHA4: view
genes like me logo Genes that share phenotypes with PLEKHA4: view

Animal Model Products

miRNA for PLEKHA4 Gene

miRTarBase miRNAs that target PLEKHA4

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHA4 Gene

Localization for PLEKHA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHA4 Gene

Cytoplasm. 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 PLEKHA4 gene
Compartment Confidence
plasma membrane 5
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for PLEKHA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PLEKHA4: view

Pathways & Interactions for PLEKHA4 Gene

genes like me logo Genes that share pathways with PLEKHA4: view

Interacting Proteins for PLEKHA4 Gene

Gene Ontology (GO) - Biological Process for PLEKHA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with PLEKHA4: view

No data available for SIGNOR curated interactions for PLEKHA4 Gene

Drugs & Compounds for PLEKHA4 Gene

(1) Drugs for PLEKHA4 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
inositol 1,3,4,5-tetrakisphosphate Experimental Pharma Target 0
genes like me logo Genes that share compounds with PLEKHA4: view

Transcripts for PLEKHA4 Gene

Unigene Clusters for PLEKHA4 Gene

Pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHA4 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19 ^ 20
SP1: -
SP2: - -
SP3: - - -
SP4: -
SP5: - -
SP6:
SP7:

Relevant External Links for PLEKHA4 Gene

GeneLoc Exon Structure for
PLEKHA4
ECgene alternative splicing isoforms for
PLEKHA4

Expression for PLEKHA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLEKHA4 Gene

This gene is overexpressed in Nerve - Tibial (x14.7).

Protein differential expression in normal tissues from HIPED for PLEKHA4 Gene

This gene is overexpressed in Platelet (24.9), CD4 Tcells (22.1), and Liver, secretome (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLEKHA4 Gene



NURSA nuclear receptor signaling pathways regulating expression of PLEKHA4 Gene:

PLEKHA4

SOURCE GeneReport for Unigene cluster for PLEKHA4 Gene:

Hs.9469

mRNA Expression by UniProt/SwissProt for PLEKHA4 Gene:

Q9H4M7-PKHA4_HUMAN
Tissue specificity: Highly expressed in melanoma. Detected at low levels in heart, skeletal muscle, kidney, liver and small intestine.
genes like me logo Genes that share expression patterns with PLEKHA4: view

Primer Products

No data available for Protein tissue co-expression partners for PLEKHA4 Gene

Orthologs for PLEKHA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHA4 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHA4 34 35
  • 85.82 (n)
cow
(Bos Taurus)
Mammalia PLEKHA4 34 35
  • 85.71 (n)
mouse
(Mus musculus)
Mammalia Plekha4 34 16 35
  • 79.13 (n)
rat
(Rattus norvegicus)
Mammalia Plekha4 34
  • 78.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 9 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia PLEKHA4 35
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PLEKHA4 35
  • 17 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34383 35
  • 5 (a)
OneToMany
Species where no ortholog for PLEKHA4 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLEKHA4 Gene

ENSEMBL:
Gene Tree for PLEKHA4 (if available)
TreeFam:
Gene Tree for PLEKHA4 (if available)

Paralogs for PLEKHA4 Gene

Paralogs for PLEKHA4 Gene

(2) SIMAP similar genes for PLEKHA4 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PLEKHA4: view

Variants for PLEKHA4 Gene

Sequence variations from dbSNP and Humsavar for PLEKHA4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs193920946 Uncertain significance 48,867,593(-) ACCTC(-/GCAGCAGCC)TGAGC cds-indel
rs10402012 -- 48,846,225(+) gaggc(A/C)ggcgg intron-variant
rs10402542 -- 48,846,220(+) aggcc(A/G)aggca intron-variant
rs10404196 -- 48,846,367(+) aatgg(C/T)gtgaa intron-variant
rs10407029 -- 48,837,601(+) AGGAC(C/T)CCGGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PLEKHA4 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV gain+loss 18304495
nsv833856 CNV loss 17160897
nsv833855 CNV loss 17160897
nsv470148 CNV gain 18288195
dgv1794n106 CNV deletion 24896259

Variation tolerance for PLEKHA4 Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.39; 94.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEKHA4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHA4 Gene

Disorders for PLEKHA4 Gene

Relevant External Links for PLEKHA4

Genetic Association Database (GAD)
PLEKHA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHA4

No disorders were found for PLEKHA4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHA4 Gene

Publications for PLEKHA4 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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3 64

Products for PLEKHA4 Gene

Sources for PLEKHA4 Gene

Content
Loading form....