• Gene id: 162494

Gene Summary

• Gene Symbol: RHBDL3   Gene   UCSC   Ensembl
• Aliases: RHBDL4, VRHO
• Gene name: rhomboid like 3
• Alternate names: rhomboid-related protein 3, rhomboid, veinlet-like 3, rhomboid, veinlet-like 4, ventrhoid transmembrane protein,
• Gene location: 17q11.2 (32265831: 32324660)     Exons: 12     NC_000017.11

Protein Summary

• Protein general information: P58872  
  • Name: Rhomboid related protein 3 (EC 3.4.21.105) (Ventrhoid transmembrane protein)
  • Length: 404  
  • Mass: 45245
• Sequence:

  MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDHWKVLFDQFDPGNTGYISTGKFRSLLESHSSKLDPHKR
  EVLLALADSHADGQIGYQDFVSLMSNKRSNSFRQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDR
  KWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIE
  HLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMK
  CQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWIFV
  AMYTVFVLFAVFWNIFAYTLLDLKLPPPP

• Structural information:
  • Protein Domains: (34..6-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (70..10-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR002048  IPR022764  IPR017213  IPR035952  
  • Prosite: PS50222
  • STRING: ENSP00000269051
• Other Databases: GeneCards:  RHBDL3  Malacards:  RHBDL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016020	membrane	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