PLEKHA4 (pleckstrin homology domain containing A4)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 57664
• Gene name: Pleckstrin homology domain containing A4
• Gene symbol: PLEKHA4
• Synonyms (NCBI Gene): PEPP1
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed i

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018635	hsa-miR-335-5p	Microarray	18185580
MIRT023016	hsa-miR-124-3p	Microarray	18668037
MIRT2070840	hsa-miR-3144-5p	CLIP-seq
MIRT2070841	hsa-miR-3191	CLIP-seq
MIRT2070842	hsa-miR-4652-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	29433439, 32296183
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	31091453
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IBA
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IDA	31091453
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IBA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	11001876
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IBA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IDA	31091453
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IBA
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	31091453
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IBA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	31091453
GO:2000096	Process	Positive regulation of Wnt signaling pathway, planar cell polarity pathway	IBA
GO:2000096	Process	Positive regulation of Wnt signaling pathway, planar cell polarity pathway	IMP	31091453

Other IDs

• MIM: 607769
• HGNC: 14339
• e!Ensembl: ENSG00000105559

Protein

• UniProt ID: Q9H4M7
• Protein name: Pleckstrin homology domain-containing family A member 4 (PH domain-containing family A member 4) (Phosphoinositol 3-phosphate-binding protein 1) (PEPP-1)
• Protein function: Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides.
• PDB: 1UPQ , 1UPR , 8OIO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	55 → 153	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in melanoma. Detected at low levels in heart, skeletal muscle, kidney, liver and small intestine. {ECO:0000269|PubMed:11001876}.
• Sequence:

  MEGSRPRSSLSLASSASTISSLSSLSPKKPTRAVNKIHAFGKRGNALRRDPNLPVHIRGW
  LHKQDSSGLRLWKRRWFVLSGHCLFYYKDSREESVLGSVLLPSYNIRPDGPGAPRGRRFT
  FTAEHPGMRTYVLAADTLEDLRGWLRALGRASRAEGDDYGQPRSPARPQPGEGPGGPGGP
  PEVSRGEEGRISESPEVTRLSRGRGRPRLLTPSPTTDLHSGLQMRRARSPDLFTPLSRPP
  SPLSLPRPRSAPARRPPAPSGDTAPPARPHTPLSRIDVRPPLDWGPQRQTLSRPPTPRRG
  PPSEAGGGKPPRSPQHWSQEPRTQAHSGSPTYLQLPPRPPGTRASMVLLPGPPLESTFHQ
  SLETDTLLTKLCGQDRLLRRLQEEIDQKQEEKEQLEAALELTRQQLGQATREAGAPGRAW
  GRQRLLQDRLVSVRATLCHLTQERERVWDTYSGLEQELGTLRETLEYLLHLGSPQDRVSA
  QQQLWMVEDTLAGLGGPQKPPPHTEPDSPSPVLQGEESSERESLPESLELSSPRSPETDW
  GRPPGGDKDLASPHLGLGSPRVSRASSPEGRHLPSPQLGTKAPVARPRMSAQEQLERMRR
  NQECGRPFPRPTSPRLLTLGRTLSPARRQPDVEQRPVVGHSGAQKWLRSSGSWSSPRNTT
  PYLPTSEGHRERVLSLSQALATEASQWHRMMTGGNLDSQGDPLPGVPLPPSDPTRQETPP
  PRSPPVANSGSTGFSRRGSGRGGGPTPWGPAWDAGIAPPVLPQDEGAWPLRVTLLQSSF

• Sequence length: 779

Pathways

Reactome Pathway:

Synthesis of PIPs at the plasma membrane

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Prostate cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Glioma	Glioma	Pubtator	36408463, 37818357	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36714030, 37735118	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36714030	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	31091453		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34621500	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for PLEKHA4.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to PLEKHA4.