• Gene id: 55111

Gene Summary

• Gene Symbol: PLEKHJ1   Gene   UCSC   Ensembl
• Aliases: GNRPX
• Gene name: pleckstrin homology domain containing J1
• Alternate names: pleckstrin homology domain-containing family J member 1, PH domain-containing family J member 1, guanine nucleotide releasing protein x,
• Gene location: 19p13.3 (2236723: 2229951)     Exons: 7     NC_000019.10
• OMIM: 603250

Protein Summary

• Protein general information: Q9NW61  
  • Name: Pleckstrin homology domain containing family J member 1 (PH domain containing family J member 1) (Guanine nucleotide releasing protein x)
  • Length: 149  
  • Mass: 17551
  • Tissue specificity: Expressed in testis and liver. {ECO
• Sequence:

  MRYNEKELQALSRQPAEMAAELGMRGPKKGSVLKRRLVKLVVNFLFYFRTDEAEPVGALLLERCRVVREEPGTFS
  ISFIEDPERKYHFECSSEEQCQEWMEALRRASYEFMRRSLIFYRNEIRKVTGKDPLEQFGISEEARFQLSGLQA

• Structural information:
  • Protein Domains: (15..10-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  
  • Prosite: PS50003
  • STRING: ENSP00000464955
• Other Databases: GeneCards:  PLEKHJ1  Malacards:  PLEKHJ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001881	receptor recycling	IBA	biological process
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0007032	endosome organization	IBA	biological process
GO:0055037	recycling endosome	IBA	cellular component
GO:0005769	early endosome	IBA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IBA	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:0005829	cytosol	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq