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Aliases for PLEKHA5 Gene

Aliases for PLEKHA5 Gene

  • Pleckstrin Homology Domain Containing A5 2 3 5
  • Pleckstrin Homology Domain Containing, Family A Member 5 2 3
  • PH Domain-Containing Family A Member 5 3 4
  • PEPP-2 3 4
  • PEPP2 3 4
  • Pleckstrin Homology Domain-Containing Family A Member 5 3
  • Phosphoinositol 3-Phosphate-Binding Protein-2 3
  • Phosphoinositol 3-Phosphate-Binding Protein 2 4
  • KIAA1686 4

External Ids for PLEKHA5 Gene

Previous GeneCards Identifiers for PLEKHA5 Gene

  • GC12P019174
  • GC12P019282
  • GC12P019052

Summaries for PLEKHA5 Gene

GeneCards Summary for PLEKHA5 Gene

PLEKHA5 (Pleckstrin Homology Domain Containing A5) is a Protein Coding gene. Among its related pathways are Metabolism and PI Metabolism. GO annotations related to this gene include phosphatidylinositol-3-phosphate binding and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is PLEKHA7.

Gene Wiki entry for PLEKHA5 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHA5 Gene

Genomics for PLEKHA5 Gene

Regulatory Elements for PLEKHA5 Gene

Enhancers for PLEKHA5 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
GH12F019189 1 FANTOM5 Ensembl ENCODE 11.7 +60.9 60851 3.1 IKZF1 FEZF1 PLEKHA5 RN7SL459P GC12M019265
GH12F019128 1.3 FANTOM5 ENCODE 4.9 +1.1 1100 3.9 SIN3A ARID4B ZNF48 ETS1 YY1 GLIS2 ZNF263 SP3 MAFF SMARCA4 PLEKHA5 ENSG00000253284
GH12F019138 0.9 FANTOM5 ENCODE 5.4 +10.0 9987 2.2 PKNOX1 HMBOX1 FOS WT1 YY1 PLEKHA5 AEBP2 ENSG00000253284
GH12F019165 0.4 ENCODE 11.3 +36.2 36184 0.7 FEZF1 ATF2 PLEKHA5 RN7SL459P ENSG00000253284
GH12F019184 0.4 ENCODE 11 +55.5 55536 1.7 HLF KDM1A PLEKHA5 RN7SL459P GC12M019265
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLEKHA5 on UCSC Golden Path with GeneCards custom track

Promoters for PLEKHA5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000427205 1009 3399 SIN3A ARID4B FEZF1 ZNF48 ETS1 YY1 ZNF121 GLIS2 ZNF263 SP3

Genomic Location for PLEKHA5 Gene

Chromosome:
12
Start:
19,129,692 bp from pter
End:
19,376,400 bp from pter
Size:
246,709 bases
Orientation:
Plus strand

Genomic View for PLEKHA5 Gene

Genes around PLEKHA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHA5 Gene

Proteins for PLEKHA5 Gene

  • Protein details for PLEKHA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAU0-PKHA5_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family A member 5
    Protein Accession:
    Q9HAU0
    Secondary Accessions:
    • A0JP03
    • B4DGS1
    • E9PHQ3
    • F5H0I0
    • Q6NSF8
    • Q86ST7
    • Q8N3K6
    • Q96DY9
    • Q9BVR4
    • Q9C0H7
    • Q9H924
    • Q9NVK8

    Protein attributes for PLEKHA5 Gene

    Size:
    1116 amino acids
    Molecular mass:
    127464 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH70174.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91742.1; Type=Frameshift; Positions=759; Evidence={ECO:0000305}; Sequence=BAB14419.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB21777.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLEKHA5 Gene

    Alternative splice isoforms for PLEKHA5 Gene

neXtProt entry for PLEKHA5 Gene

Post-translational modifications for PLEKHA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHA5 Gene

Domains & Families for PLEKHA5 Gene

Gene Families for PLEKHA5 Gene

Protein Domains for PLEKHA5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HAU0

UniProtKB/Swiss-Prot:

PKHA5_HUMAN :
  • Specifically interacts with PI3P, PI4P, PI5P, and PI(3,5)P2.
Domain:
  • Specifically interacts with PI3P, PI4P, PI5P, and PI(3,5)P2.
  • Contains 1 PH domain.
  • Contains 2 WW domains.
genes like me logo Genes that share domains with PLEKHA5: view

Function for PLEKHA5 Gene

Gene Ontology (GO) - Molecular Function for PLEKHA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16713569
GO:0005545 1-phosphatidylinositol binding NAS 11001876
GO:0010314 phosphatidylinositol-5-phosphate binding IEA --
GO:0032266 phosphatidylinositol-3-phosphate binding IEA --
GO:0070273 phosphatidylinositol-4-phosphate binding IEA --
genes like me logo Genes that share ontologies with PLEKHA5: view
genes like me logo Genes that share phenotypes with PLEKHA5: view

Animal Model Products

miRNA for PLEKHA5 Gene

miRTarBase miRNAs that target PLEKHA5

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHA5 Gene

Localization for PLEKHA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHA5 Gene

Cytoplasm.

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 PLEKHA5 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PLEKHA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PLEKHA5: view

Pathways & Interactions for PLEKHA5 Gene

genes like me logo Genes that share pathways with PLEKHA5: view

Gene Ontology (GO) - Biological Process for PLEKHA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0061458 reproductive system development IEA --
genes like me logo Genes that share ontologies with PLEKHA5: view

No data available for SIGNOR curated interactions for PLEKHA5 Gene

Transcripts for PLEKHA5 Gene

Unigene Clusters for PLEKHA5 Gene

Pleckstrin homology domain containing, family A member 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHA5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: -
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -

ExUns: 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b · 29c ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b · 32c
SP1: -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PLEKHA5 Gene

GeneLoc Exon Structure for
PLEKHA5
ECgene alternative splicing isoforms for
PLEKHA5

Expression for PLEKHA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHA5 Gene

Protein differential expression in normal tissues from HIPED for PLEKHA5 Gene

This gene is overexpressed in Brain (24.6) and Cervix (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLEKHA5 Gene



Protein tissue co-expression partners for PLEKHA5 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLEKHA5 Gene:

PLEKHA5

SOURCE GeneReport for Unigene cluster for PLEKHA5 Gene:

Hs.188614

mRNA Expression by UniProt/SwissProt for PLEKHA5 Gene:

Q9HAU0-PKHA5_HUMAN
Tissue specificity: Highly expressed in heart and kidney.
genes like me logo Genes that share expression patterns with PLEKHA5: view

Primer Products

No data available for mRNA differential expression in normal tissues for PLEKHA5 Gene

Orthologs for PLEKHA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHA5 34
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia PLEKHA5 34 35
  • 93.42 (n)
cow
(Bos Taurus)
Mammalia PLEKHA5 34 35
  • 90.02 (n)
mouse
(Mus musculus)
Mammalia Plekha5 34 16 35
  • 85.65 (n)
rat
(Rattus norvegicus)
Mammalia Plekha5 34
  • 85.49 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHA5 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA5 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHA5 34 35
  • 77.81 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHA5 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7383 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11613 34
zebrafish
(Danio rerio)
Actinopterygii plekha5 34 35
  • 61.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG34383 35
  • 9 (a)
OneToMany
Species where no ortholog for PLEKHA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLEKHA5 Gene

ENSEMBL:
Gene Tree for PLEKHA5 (if available)
TreeFam:
Gene Tree for PLEKHA5 (if available)

Paralogs for PLEKHA5 Gene

Paralogs for PLEKHA5 Gene

(3) SIMAP similar genes for PLEKHA5 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with PLEKHA5: view

Variants for PLEKHA5 Gene

Sequence variations from dbSNP and Humsavar for PLEKHA5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1002772 -- 19,156,787(+) CGCCT(A/G)TAGTC intron-variant
rs10082906 -- 19,356,971(+) TTTCA(A/T)ATATG intron-variant
rs10083000 -- 19,176,338(+) ttcgc(A/G)ggcac intron-variant
rs10161135 -- 19,319,722(+) AGGCT(A/G)TGATG intron-variant
rs10161507 -- 19,286,971(+) AAAAA(A/C)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHA5 Gene

Variant ID Type Subtype PubMed ID
nsv951336 CNV duplication 24416366
nsv832346 CNV loss 17160897
nsv557696 CNV gain 21841781
nsv557675 CNV loss 21841781
nsv516362 CNV gain+loss 19592680
nsv470273 CNV gain 18288195
nsv469131 CNV gain 19166990
nsv428274 CNV loss 18775914
nsv1145585 CNV deletion 24896259
nsv1134205 CNV deletion 24896259
nsv1127252 CNV deletion 24896259
nsv1125341 OTHER inversion 24896259
nsv1122703 CNV deletion 24896259
nsv1070097 CNV deletion 25765185
nsv1041486 CNV gain 25217958
esv3892157 CNV gain 25118596
esv3628759 CNV gain 21293372
esv3628758 CNV gain 21293372
esv3628756 CNV gain 21293372
esv3628755 CNV gain 21293372
esv3628753 CNV gain 21293372
esv3628751 CNV loss 21293372
esv3628750 CNV loss 21293372
esv3580171 CNV loss 25503493
esv33101 CNV gain 17666407
esv2761021 CNV gain 21179565
esv2745617 CNV deletion 23290073
esv2663408 CNV deletion 23128226
esv2422498 CNV duplication 17116639
esv2422261 CNV duplication 17116639
esv2422206 CNV duplication 17116639
esv1027404 CNV insertion 17803354
esv1008021 CNV insertion 20482838
dgv464e212 CNV gain 25503493
dgv257e214 CNV loss 21293372
dgv2398n54 CNV gain 21841781
dgv2397n54 CNV gain 21841781
dgv2396n54 CNV gain 21841781
dgv188n27 CNV gain 19166990
dgv1399n100 CNV gain 25217958
dgv1398n100 CNV gain 25217958

Variation tolerance for PLEKHA5 Gene

Residual Variation Intolerance Score: 5.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.49; 64.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEKHA5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHA5 Gene

Disorders for PLEKHA5 Gene

Relevant External Links for PLEKHA5

Genetic Association Database (GAD)
PLEKHA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHA5

No disorders were found for PLEKHA5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHA5 Gene

Publications for PLEKHA5 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 64
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  3. Identification and characterization of splicing variants of PLEKHA5 (Plekha5) during brain development. (PMID: 22037487) Yamada K. … Wakamatsu N. (Gene 2012) 3 4 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 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 PLEKHA5 Gene

Sources for PLEKHA5 Gene

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