• Gene id: 57664

Gene Summary

• Gene Symbol: PLEKHA4   Gene   UCSC   Ensembl
• Aliases: PEPP1
• Gene name: pleckstrin homology domain containing A4
• Alternate names: pleckstrin homology domain-containing family A member 4, PH domain-containing family A member 4, phosphoinositol 3-phosphate-binding PH domain protein 1, pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,
• Gene location: 19q13.33 (48868621: 48837091)     Exons: 21     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 607769

Protein Summary

• Protein general information: Q9H4M7  
  • Name: Pleckstrin homology domain containing family A member 4 (PH domain containing family A member 4) (Phosphoinositol 3 phosphate binding protein 1) (PEPP 1)
  • Length: 779  
  • Mass: 85401
  • Tissue specificity: Highly expressed in melanoma. Detected at low levels in heart, skeletal muscle, kidney, liver and small intestine. {ECO
• Sequence:

  MEGSRPRSSLSLASSASTISSLSSLSPKKPTRAVNKIHAFGKRGNALRRDPNLPVHIRGWLHKQDSSGLRLWKRR
  WFVLSGHCLFYYKDSREESVLGSVLLPSYNIRPDGPGAPRGRRFTFTAEHPGMRTYVLAADTLEDLRGWLRALGR
  ASRAEGDDYGQPRSPARPQPGEGPGGPGGPPEVSRGEEGRISESPEVTRLSRGRGRPRLLTPSPTTDLHSGLQMR
  RARSPDLFTPLSRPPSPLSLPRPRSAPARRPPAPSGDTAPPARPHTPLSRIDVRPPLDWGPQRQTLSRPPTPRRG
  PPSEAGGGKPPRSPQHWSQEPRTQAHSGSPTYLQLPPRPPGTRASMVLLPGPPLESTFHQSLETDTLLTKLCGQD
  RLLRRLQEEIDQKQEEKEQLEAALELTRQQLGQATREAGAPGRAWGRQRLLQDRLVSVRATLCHLTQERERVWDT
  YSGLEQELGTLRETLEYLLHLGSPQDRVSAQQQLWMVEDTLAGLGGPQKPPPHTEPDSPSPVLQGEESSERESLP
  ESLELSSPRSPETDWGRPPGGDKDLASPHLGLGSPRVSRASSPEGRHLPSPQLGTKAPVARPRMSAQEQLERMRR
  NQECGRPFPRPTSPRLLTLGRTLSPARRQPDVEQRPVVGHSGAQKWLRSSGSWSSPRNTTPYLPTSEGHRERVLS
  LSQALATEASQWHRMMTGGNLDSQGDPLPGVPLPPSDPTRQETPPPRSPPVANSGSTGFSRRGSGRGGGPTPWGP
  AWDAGIAPPVLPQDEGAWPLRVTLLQSSF

• Structural information:
  • Protein Domains: (54..15-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  IPR040392  
  • Prosite: PS50003
  • CDD: cd13248
  • PDB: 1UPQ 1UPR
  • PDBsum: 1UPQ 1UPR
  • STRING: ENSP00000263265
• Other Databases: GeneCards:  PLEKHA4  Malacards:  PLEKHA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IBA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IBA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IBA	molecular function
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IBA	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	IBA	biological process
GO:2000096	positive regulation of Wnt signaling pathway, planar cell polarity pathway	IBA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IDA	cellular component
GO:2000096	positive regulation of Wnt signaling pathway, planar cell polarity pathway	IMP	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R