• Gene id: 79156

Gene Summary

• Gene Symbol: PLEKHF1   Gene   UCSC   Ensembl
• Aliases: APPD, LAPF, PHAFIN1, ZFYVE15
• Gene name: pleckstrin homology and FYVE domain containing 1
• Alternate names: pleckstrin homology domain-containing family F member 1, PH and FYVE domain-containing protein 1, PH domain-containing family F member 1, apoptosis-inducing protein D, lysosome-associated apoptosis-inducing protein containing PH and FYVE domains, phafin 1, plec,
• Gene location: 19q12 (29665421: 29675476)     Exons: 2     NC_000019.10
• OMIM: 613232

Protein Summary

• Protein general information: Q96S99  
  • Name: Pleckstrin homology domain containing family F member 1 (PH domain containing family F member 1) (Lysosome associated apoptosis inducing protein containing PH and FYVE domains) (Apoptosis inducing protein) (PH and FYVE domain containing protein 1) (Phafin
  • Length: 279  
  • Mass: 31195
  • Tissue specificity: Highly expressed in heart and skeletal muscle. Weakly expressed in brain, thymus, spleen, kidney, liver, small intestine, placenta and lung. {ECO
• Sequence:

  MVDHLANTEINSQRIAAVESCFGASGQPLALPGRVLLGEGVLTKECRKKAKPRIFFLFNDILVYGSIVLNKRKYR
  SQHIIPLEEVTLELLPETLQAKNRWMIKTAKKSFVVSAASATERQEWISHIEECVRRQLRATGRPPSTEHAAPWI
  PDKATDICMRCTQTRFSALTRRHHCRKCGFVVCAECSRQRFLLPRLSPKPVRVCSLCYRELAAQQRQEEAEEQGA
  GSPGQPAHLARPICGASSGDDDDSDEDKEGSRDGDWPSSVEFYASGVAWSAFHS

• Structural information:
  • Protein Domains: (35..13-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  IPR037871  IPR042762  IPR000306   IPR017455  IPR011011  IPR013083  
  • Prosite: PS50003 PS50178
  • CDD: cd15754 cd01218
  • STRING: ENSP00000389787
• Other Databases: GeneCards:  PLEKHF1  Malacards:  PLEKHF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
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:0005764	lysosome	IEA	cellular component
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IEA	biological process
GO:0010314	phosphatidylinositol-5-phosphate binding	IDA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0005765	lysosomal membrane	IC	cellular component
GO:0005768	endosome	IDA	colocalizes with
GO:0010008	endosome membrane	IC	cellular component
GO:0010508	positive regulation of autophagy	IDA	biological process
GO:0007032	endosome organization	IMP	biological process
GO:0016050	vesicle organization	IMP	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq