• Gene id: 58473

Gene Summary

• Gene Symbol: PLEKHB1   Gene   UCSC   Ensembl
• Aliases: KPL1, PHR1, PHRET1
• Gene name: pleckstrin homology domain containing B1
• Alternate names: pleckstrin homology domain-containing family B member 1, PH domain containing, retinal 1, PH domain-containing family B member 1, PH domain-containing protein in retina 1, evectin-1, pleckstrin homology domain containing, family B (evectins) member 1, pleckstri,
• Gene location: 11q13.4 (73646580: 73662818)     Exons: 9     NC_000011.10
• OMIM: 615320

Protein Summary

• Protein general information: Q9UF11  
  • Name: Pleckstrin homology domain containing family B member 1 (PH domain containing family B member 1) (Evectin 1) (PH domain containing protein in retina 1) (PHRET1) (Pleckstrin homology domain retinal protein 1)
  • Length: 243  
  • Mass: 27186
  • Tissue specificity: Highly expressed in retina and brain. Levels are very low or not detectable in all other tissues tested. {ECO
• Sequence:

  MSPAAPVPPDSALESPFEEMALVRGGWLWRQSSILRRWKRNWFALWLDGTLGYYHDETAQDEEDRVLIHFNVRDI
  KIGPECHDVQPPEGRSRDGLLTVNLREGGRLHLCAETKDDALAWKTALLEANSTPAPAGATVPPRSRRVCSKVRC
  VTRSWSPCKVERRIWVRVYSPYQDYYEVVPPNAHEATYVRSYYGPPYAGPGVTHVIVREDPCYSAGAPLAMGMLA
  GAATGAALGSLMWSPCWF

• Structural information:
  • Protein Domains: (21..12-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  IPR039816  IPR039680  
  • Prosite: PS50003
  • STRING: ENSP00000346127
• Other Databases: GeneCards:  PLEKHB1  Malacards:  PLEKHB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045595	regulation of cell differentiation	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045595	regulation of cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0007602	phototransduction	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881