• Gene id: 59338

Gene Summary

• Gene Symbol: PLEKHA1   Gene   UCSC   Ensembl
• Aliases: TAPP1
• Gene name: pleckstrin homology domain containing A1
• Alternate names: pleckstrin homology domain-containing family A member 1, pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1, tandem PH domain-containing protein 1,
• Gene location: 10q26.13 (152830966: 152869728)     Exons: 11     NC_000023.11
• Gene summary(Entrez): 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 signalin
• OMIM: 607772

Protein Summary

• Protein general information: Q9HB21  
  • Name: Pleckstrin homology domain containing family A member 1 (PH domain containing family A member 1) (Tandem PH domain containing protein 1) (TAPP 1)
  • Length: 404  
  • Mass: 45553
  • 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. {ECO
• Sequence:

  MPYVDRQNRICGFLDIEENENSGKFLRRYFILDTREDSFVWYMDNPQNLPSGSSRVGAIKLTYISKVSDATKLRP
  KAEFCFVMNAGMRKYFLQANDQQDLVEWVNVLNKAIKITVPKQSDSQPNSDNLSRHGECGKKQVSYRTDIVGGVP
  IITPTQKEEVNECGESIDRNNLKRSQSHLPYFTPKPPQDSAVIKAGYCVKQGAVMKNWKRRYFQLDENTIGYFKS
  ELEKEPLRVIPLKEVHKVQECKQSDIMMRDNLFEIVTTSRTFYVQADSPEEMHSWIKAVSGAIVAQRGPGRSASS
  EHPPGPSESKHAFRPTNAATATSHSTASRSNSLVSTFTMEKRGFYESLAKVKPGNFKVQTVSPREPASKVTEQAL
  LRPQSKNGPQEKDCDLVDLDDASLPVSDV

• Structural information:
  • Protein Domains: (7..11-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (191..28-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  
  • Prosite: PS50003
  • PDB: 1EAZ
  • PDBsum: 1EAZ
  • STRING: ENSP00000357986
• Other Databases: GeneCards:  PLEKHA1  Malacards:  PLEKHA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030165	PDZ domain binding	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060325	face morphogenesis	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0001553	luteinization	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0033327	Leydig cell differentiation	IEA	biological process
GO:0008210	estrogen metabolic process	IEA	biological process
GO:0008209	androgen metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0050853	B cell receptor signaling pathway	IDA	biological process
GO:0032587	ruffle membrane	IDA	cellular component
GO:0014065	phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0070301	cellular response to hydrogen peroxide	IDA	biological process
GO:0045184	establishment of protein localization	IDA	biological process
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0031529	ruffle organization	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051898	negative regulation of protein kinase B signaling	IMP	biological process
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R