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Aliases for PLEKHA1 Gene

Aliases for PLEKHA1 Gene

  • Pleckstrin Homology Domain Containing A1 2 3 5
  • Pleckstrin Homology Domain Containing, Family A (Phosphoinositide Binding Specific) Member 1 2 3
  • Tandem PH Domain-Containing Protein 1 3 4
  • TAPP1 3 4
  • Pleckstrin Homology Domain-Containing, Family A (Phosphoinositide Binding Specific) Member 1 2
  • Pleckstrin Homology Domain-Containing Family A Member 1 3
  • PH Domain-Containing Family A Member 1 4
  • Tandem PH Domain Containing Protein-1 2
  • TAPP-1 4

External Ids for PLEKHA1 Gene

Previous GeneCards Identifiers for PLEKHA1 Gene

  • GC10P123153
  • GC10P123377
  • GC10P124276
  • GC10P123810
  • GC10P124124
  • GC10P117765

Summaries for PLEKHA1 Gene

Entrez Gene Summary for PLEKHA1 Gene

  • This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]

GeneCards Summary for PLEKHA1 Gene

PLEKHA1 (Pleckstrin Homology Domain Containing A1) is a Protein Coding gene. Diseases associated with PLEKHA1 include Macular Degeneration, Age-Related, 1 and Eye Disease. Among its related pathways are Class I PI3K signaling events and ICos-ICosL Pathway in T-Helper Cell. GO annotations related to this gene include PDZ domain binding and phosphatidylinositol-3,4-bisphosphate binding. An important paralog of this gene is PLEKHA2.

UniProtKB/Swiss-Prot for PLEKHA1 Gene

  • Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.

Gene Wiki entry for PLEKHA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHA1 Gene

Genomics for PLEKHA1 Gene

Regulatory Elements for PLEKHA1 Gene

Enhancers for PLEKHA1 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
GH10G122372 1.3 Ensembl ENCODE 13 +0.3 267 4.5 PKNOX1 ATF1 CREB3L1 ARID4B SIN3A ZNF2 YY1 ETS1 ZNF766 GLIS2 ARMS2 PLEKHA1 MIR3941
GH10G122419 0.8 Ensembl ENCODE 16.2 +46.8 46793 4.0 ZFHX2 JUND SMARCA4 HLF CEBPB NFE2 EGR2 BTBD16 PLEKHA1 HTRA1 ARMS2 LOC105378524 PIR55685
GH10G122415 0.8 Ensembl ENCODE 15.6 +42.2 42211 2.7 SCRT1 HLF CEBPB ZIC2 ATF2 PLEKHA1 ARMS2 MIR3941
GH10G122368 0.7 ENCODE 13.6 -5.7 -5681 1.2 JUN ZNF223 ZIC2 ATF2 RARA JUND ZFHX2 ATF3 ZBTB48 GLIS1 PLEKHA1 ARMS2 RNU6-728P
GH10G121578 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.9 -794.3 -794332 3.0 SCRT1 TEAD4 RBBP5 ZIC2 E2F1 JUND HDAC2 POLR2A SMARCA4 SCRT2 PLEKHA1 FGFR2 RN7SKP167
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLEKHA1 on UCSC Golden Path with GeneCards custom track

Promoters for PLEKHA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000034566 422 2401 PKNOX1 ATF1 CREB3L1 ARID4B SIN3A ZNF2 YY1 ETS1 ZNF766 CBX5

Genomic Location for PLEKHA1 Gene

Chromosome:
10
Start:
122,374,578 bp from pter
End:
122,442,602 bp from pter
Size:
68,025 bases
Orientation:
Plus strand

Genomic View for PLEKHA1 Gene

Genes around PLEKHA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHA1 Gene

Proteins for PLEKHA1 Gene

  • Protein details for PLEKHA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB21-PKHA1_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family A member 1
    Protein Accession:
    Q9HB21
    Secondary Accessions:
    • B3KQ55
    • D3DRE2
    • Q9BVK0

    Protein attributes for PLEKHA1 Gene

    Size:
    404 amino acids
    Molecular mass:
    45553 Da
    Quaternary structure:
    • Interacts with MPDZ and PTPN13.

    Three dimensional structures from OCA and Proteopedia for PLEKHA1 Gene

    Alternative splice isoforms for PLEKHA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHA1 Gene

Post-translational modifications for PLEKHA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PLEKHA1
  • Cloud-Clone Corp. Antibodies for PLEKHA1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PLEKHA1

No data available for DME Specific Peptides for PLEKHA1 Gene

Domains & Families for PLEKHA1 Gene

Gene Families for PLEKHA1 Gene

Protein Domains for PLEKHA1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9HB21

UniProtKB/Swiss-Prot:

PKHA1_HUMAN :
  • Binds to membranes enriched in PtdIns3,4P2 via the C-terminal PH domain.
Domain:
  • Binds to membranes enriched in PtdIns3,4P2 via the C-terminal PH domain.
genes like me logo Genes that share domains with PLEKHA1: view

Function for PLEKHA1 Gene

Molecular function for PLEKHA1 Gene

UniProtKB/Swiss-Prot Function:
Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.

Gene Ontology (GO) - Molecular Function for PLEKHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11802782
GO:0008289 lipid binding IEA --
GO:0030165 PDZ domain binding IPI 11802782
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding IDA 11001876
genes like me logo Genes that share ontologies with PLEKHA1: view
genes like me logo Genes that share phenotypes with PLEKHA1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PLEKHA1

CRISPR Products

miRNA for PLEKHA1 Gene

miRTarBase miRNAs that target PLEKHA1

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 PLEKHA1 Gene

Localization for PLEKHA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHA1 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Nucleus. Note=Locates to the plasma membrane after treatments that stimulate the production of PtdIns3,4P2. {ECO:0000269 PubMed:11802782}.

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 PLEKHA1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
endosome 1

Gene Ontology (GO) - Cellular Components for PLEKHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 12101241
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PLEKHA1: view

Pathways & Interactions for PLEKHA1 Gene

genes like me logo Genes that share pathways with PLEKHA1: view

Pathways by source for PLEKHA1 Gene

Gene Ontology (GO) - Biological Process for PLEKHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001553 luteinization IEA --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007283 spermatogenesis IEA --
GO:0008209 androgen metabolic process IEA --
GO:0008210 estrogen metabolic process IEA --
genes like me logo Genes that share ontologies with PLEKHA1: view

No data available for SIGNOR curated interactions for PLEKHA1 Gene

Drugs & Compounds for PLEKHA1 Gene

(1) Drugs for PLEKHA1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citric Acid Vet_approved Nutra Agonist, Activator, Target 1160

(3) Additional Compounds for PLEKHA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PLEKHA1: view

Transcripts for PLEKHA1 Gene

Unigene Clusters for PLEKHA1 Gene

Pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHA1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a ·
SP1: - -
SP2: -
SP3: - - - - - - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - - -
SP10:
SP11: - -
SP12: - - -
SP13: - - - - - - - - - - - - - - - -
SP14: - - - - -
SP15:
SP16:
SP17: - - - - - -
SP18:
SP19:

ExUns: 15b ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b · 20c ^ 21a · 21b · 21c
SP1: - - -
SP2: - - - - - -
SP3: - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16: - - - - -
SP17:
SP18: - - - -
SP19: -

Relevant External Links for PLEKHA1 Gene

GeneLoc Exon Structure for
PLEKHA1
ECgene alternative splicing isoforms for
PLEKHA1

Expression for PLEKHA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHA1 Gene

Protein differential expression in normal tissues from HIPED for PLEKHA1 Gene

This gene is overexpressed in Frontal cortex (21.3), Adrenal (12.6), and Pancreas (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLEKHA1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PLEKHA1 Gene:

PLEKHA1

SOURCE GeneReport for Unigene cluster for PLEKHA1 Gene:

Hs.643512

mRNA Expression by UniProt/SwissProt for PLEKHA1 Gene:

Q9HB21-PKHA1_HUMAN
Tissue specificity: Highly expressed in skeletal muscle, thymus, pancreas, placenta and lung. Detected at low levels in brain, heart, peripheral blood leukocytes, testis, ovary, spinal cord, thyroid, kidney, liver, small intestine and colon.

Evidence on tissue expression from TISSUES for PLEKHA1 Gene

  • Intestine(4.2)
  • Nervous system(3.8)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with PLEKHA1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHA1 Gene

Orthologs for PLEKHA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEKHA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHA1 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia PLEKHA1 34 35
  • 92.74 (n)
rat
(Rattus norvegicus)
Mammalia Plekha1 34
  • 90.56 (n)
mouse
(Mus musculus)
Mammalia Plekha1 34 16 35
  • 87.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHA1 35
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHA1 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLEKHA1 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHA1 34 35
  • 82.01 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHA1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekha1 34
  • 67.69 (n)
Str.3942 34
zebrafish
(Danio rerio)
Actinopterygii PLEKHA1 (2 of 2) 35
  • 65 (a)
OneToMany
plekha1 34 35
  • 64.04 (n)
Dr.8510 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToMany
Species where no ortholog for PLEKHA1 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PLEKHA1 Gene

ENSEMBL:
Gene Tree for PLEKHA1 (if available)
TreeFam:
Gene Tree for PLEKHA1 (if available)

Paralogs for PLEKHA1 Gene

Paralogs for PLEKHA1 Gene

(1) SIMAP similar genes for PLEKHA1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for PLEKHA1 Gene

genes like me logo Genes that share paralogs with PLEKHA1: view

Variants for PLEKHA1 Gene

Sequence variations from dbSNP and Humsavar for PLEKHA1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000121943 -- 122,396,113(+) CCCAT(A/G)GTGTA intron-variant
rs1000177195 -- 122,388,606(+) AAACT(A/G)TGTTT intron-variant
rs1000257091 -- 122,413,560(+) AAAAT(A/C)TATTT intron-variant
rs1000381532 -- 122,427,447(+) CAGTT(A/C)AGGTT intron-variant
rs1000387031 -- 122,382,657(+) CATAT(C/T)TTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHA1 Gene

Variant ID Type Subtype PubMed ID
dgv987n100 CNV loss 25217958
nsv1042640 CNV loss 25217958
nsv1069520 CNV deletion 25765185
nsv1118188 CNV deletion 24896259
nsv552250 CNV loss 21841781
nsv7578 CNV deletion 18451855

Variation tolerance for PLEKHA1 Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEKHA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHA1 Gene

Disorders for PLEKHA1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PLEKHA1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macular degeneration, age-related, 1
  • macular degeneration, age-related, reduced risk of
eye disease
  • eye diseases
degeneration of macula and posterior pole
  • degeneration of macula and posterior pole of retina
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PLEKHA1

Genetic Association Database (GAD)
PLEKHA1
Human Genome Epidemiology (HuGE) Navigator
PLEKHA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHA1
genes like me logo Genes that share disorders with PLEKHA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHA1 Gene

Publications for PLEKHA1 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. Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. (PMID: 18164066) Deangelis M.M. … Kim I.K. (Ophthalmology 2008) 3 22 46 64
  3. PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population. (PMID: 18079691) Leveziel N. … Benlian P. (Mol. Vis. 2007) 3 22 46 64
  4. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. (PMID: 17884985) Kanda A. … Swaroop A. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 22 46 64
  5. Hypothetical LOC387715 is a second major susceptibility gene for age- related macular degeneration, contributing independently of complement factor H to disease risk. (PMID: 16174643) Rivera A. … Weber B.H.F. (Hum. Mol. Genet. 2005) 3 22 46 64

Products for PLEKHA1 Gene

Sources for PLEKHA1 Gene

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