• Gene id: 65977

Gene Summary

• Gene Symbol: PLEKHA3   Gene   UCSC   Ensembl
• Aliases: FAPP1
• Gene name: pleckstrin homology domain containing A3
• Alternate names: pleckstrin homology domain-containing family A member 3, FAPP-1, PH domain-containing family A member 3, four-phosphate-adaptor protein 1, phosphatidylinositol-four-phosphate adapter protein 1, phosphoinositol 4-phosphate adapter protein 1, pleckstrin homology ,
• Gene location: 2q31.2 (23180508: 23318036)     Exons: 23     NC_000022.11
• OMIM: 607774

Protein Summary

• Protein general information: Q9HB20  
  • Name: Pleckstrin homology domain containing family A member 3 (PH domain containing family A member 3) (Phosphatidylinositol four phosphate adapter protein 1) (FAPP 1) (Phosphoinositol 4 phosphate adapter protein 1)
  • Length: 300  
  • Mass: 33861
  • Tissue specificity: Widely expressed.
• Sequence:

  MEGVLYKWTNYLTGWQPRWFVLDNGILSYYDSQDDVCKGSKGSIKMAVCEIKVHSADNTRMELIIPGEQHFYMKA
  VNAAERQRWLVALGSSKACLTDTRTKKEKEISETSESLKTKMSELRLYCDLLMQQVHTIQEFVHHDENHSSPSAE
  NMNEASSLLSATCNTFITTLEECVKIANAKFKPEMFQLHHPDPLVSPVSPSPVQMMKRSVSHPGSCSSERSSHSI
  KEPVSTLHRLSQRRRRTYSDTDSCSDIPLEDPDRPVHCSKNTLNGDLASATIPEESRLMAKKQSESEDTLPSFSS

• Structural information:
  • Protein Domains: (1..9-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  
  • Prosite: PS50003
  • PDB: 2KCJ 2MDX 3RCP
  • PDBsum: 2KCJ 2MDX 3RCP
  • STRING: ENSP00000234453
• Other Databases: GeneCards:  PLEKHA3  Malacards:  PLEKHA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902387	ceramide 1-phosphate binding	IBA	molecular function
GO:0120009	intermembrane lipid transfer	IBA	biological process
GO:0035621	ER to Golgi ceramide transport	IBA	biological process
GO:0008289	lipid binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:1902388	ceramide 1-phosphate transfer activity	IBA	molecular function
GO:0035627	ceramide transport	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:1902389	ceramide 1-phosphate transport	IEA	biological process
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)