• Gene id: 79990

Gene Summary

• Gene Symbol: PLEKHH3   Gene   UCSC   Ensembl
• Gene name: pleckstrin homology, MyTH4 and FERM domain containing H3
• Alternate names: pleckstrin homology domain-containing family H member 3, PH domain-containing family H member 3, pleckstrin homology domain containing, family H (with MyTH4 domain) member 3,
• Gene location: 17q21.2 (42677044: 42667913)     Exons: 14     NC_000017.11
• OMIM: 606573

Protein Summary

• Protein general information: Q7Z736  
  • Name: Pleckstrin homology domain containing family H member 3 (PH domain containing family H member 3)
  • Length: 793  
  • Mass: 85317
• Sequence:

  MPLPGGLWWLLCCRRGFTLLHRDYGDGELSGDGDEDEDEETFELRTPSPAGGGRGPLEVTLTQPVRSGPVSNRLQ
  SWEETWSLIPEKGLPEDDPDIVVKGWLYREPRGGGARPWLPPRRAWFVLTRDSLDQFSSSGKGARRLGSLVLTSL
  CSVTGPERRRKETGLWSVTVSGRKHSVRLCSPRQAEAERWGVALREVIASKAPLETPTQLLLRDIQESCGDPEAV
  ALIYLRNPILRHTSGALYAPLLPLPYGVSAPGPGYAPLREEAVRLFLALQALEGARRPGPLMQGVLQTCRDLPAL
  RDELFLQLAKQTSGPAGPPGLPATQDPAALRYWQLLTCMSCTFRPGGAVRGHLLGHLERTEQALPDSELAEYARF
  IRKALGRTRGRELVPSLAEISALSQRQELLCTVHCPGAGACAVAIDSHTTAGEVARELVGRLGLARSRNAFALYE
  QRGAQERALAGGTLVADVLTRFENLAAEEAGLEDSPDSGWRLCLRLHGPLHPEGLSPDGHELPFLFEQAHALLLR
  GRPPPPDDTLRALAALRLQSLQRDFSPRVPLPRLDRLLPPPAPPREDPPRPTPRPPPSAALLAGALWSPGLAKRR
  AERARRGGAGRTAGSIAREGGGGAGTAAAVLGGWKRLRGMGRAEAMAAYLALAAQCPGFGAARYDVLELSTEPGR
  GAPQKLCLGLGAKAMSLSRPGETEPIHSVSYGHVAACQLMGPHTLALRVGESQLLLQSPQVEEIMQLVNAYLANP
  SPERPCSSSSPPCQDLPDTSPPSQRPGLDEPQGQSGCLGQLQD

• Structural information:
  • Protein Domains: (95..19-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (237..39-)
    (/note="MyTH4-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00359-)
    (404..75-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR019749  IPR014352  IPR035963  IPR019748  IPR000299   IPR000857  IPR038185  IPR011993  IPR001849  IPR000159  
  • Prosite: PS50057 PS51016 PS50003
  • STRING: ENSP00000468678
• Other Databases: GeneCards:  PLEKHH3  Malacards:  PLEKHH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq