• Gene id: 84069

Gene Summary

• Gene Symbol: PLEKHN1   Gene   UCSC   Ensembl
• Aliases: CLPABP
• Gene name: pleckstrin homology domain containing N1
• Alternate names: pleckstrin homology domain-containing family N member 1, PH domain-containing family N member 1, cardiolipin and phosphatidic acid-binding protein,
• Gene location: 1p36.33 (965819: 975864)     Exons: 15     NC_000001.11
• OMIM: 603212

Protein Summary

• Protein general information: Q494U1  
  • Name: Pleckstrin homology domain containing family N member 1 (PH domain containing family N member 1) (Cardiolipin and phosphatidic acid binding protein)
  • Length: 611  
  • Mass: 66409
  • Tissue specificity: Ubiquitous (PubMed
• Sequence:

  MGNSHCVPQAPRRLRASFSRKPSLKGNREDSARMSAGLPGPEAARSGDAAANKLFHYIPGTDILDLENQRENLEQ
  PFLSVFKKGRRRVPVRNLGKVVHYAKVQLRFQHSQDVSDCYLELFPAHLYFQAHGSEGLTFQGLLPLTELSVCPL
  EGSREHAFQITGPLPAPLLVLCPSRAELDRWLYHLEKQTALLGGPRRCHSAPPQRRLTRLRTASGHEPGGSAVCA
  SRVKLQHLPAQEQWDRLLVLYPTSLAIFSEELDGLCFKGELPLRAVHINLEEKEKQIRSFLIEGPLINTIRVVCA
  SYEDYGHWLLCLRAVTHREGAPPLPGAESFPGSQVMGSGRGSLSSGGQTSWDSGCLAPPSTRTSHSLPESSVPST
  VGCSSQHTPDQANSDRASIGRRRTELRRSGSSRSPGSKARAEGRGPVTPLHLDLTQLHRLSLESSPDAPDHTSET
  SHSPLYADPYTPPATSHRRVTDVRGLEEFLSAMQSARGPTPSSPLPSVPVSVPASDPRSCSSGPAGPYLLSKKGA
  LQSRAAQRHRGSAKDGGPQPPDAPQLVSSAREGSPEPWLPLTDGRSPRRSRDPGYDHLWDETLSSSHQKCPQLGG
  PEASGGLVQWI

• Structural information:
  • Protein Domains: (96..19-)
    (/note="PH-1)
    (222..31-)
    (/note="PH-2")
  • Interpro: IPR011993  IPR001849  IPR042835  IPR037839  
  • CDD: cd13323
  • STRING: ENSP00000368720
• Other Databases: GeneCards:  PLEKHN1  Malacards:  PLEKHN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005856	cytoskeleton	IBA	cellular component
GO:0031966	mitochondrial membrane	IBA	cellular component
GO:0043065	positive regulation of apoptotic process	IBA	biological process
GO:0061158	3'-UTR-mediated mRNA destabilization	IBA	biological process
GO:0070300	phosphatidic acid binding	IBA	molecular function
GO:0001666	response to hypoxia	IBA	biological process
GO:0001786	phosphatidylserine binding	IBA	molecular function
GO:1901612	cardiolipin binding	IBA	molecular function
GO:1901981	phosphatidylinositol phosphate binding	IBA	molecular function
GO:0001666	response to hypoxia	IDA	biological process
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:1901612	cardiolipin binding	IDA	molecular function
GO:1901981	phosphatidylinositol phosphate binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0061158	3'-UTR-mediated mRNA destabilization	IDA	biological process
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0070300	phosphatidic acid binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901612	cardiolipin binding	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
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: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:0005739	mitochondrion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray