• Gene id: 9986

Gene Summary

• Gene Symbol: RCE1   Gene   UCSC   Ensembl
• Aliases: FACE2, RCE1A, RCE1B
• Gene name: Ras converting CAAX endopeptidase 1
• Alternate names: CAAX prenyl protease 2, RCE1 homolog, prenyl protein peptidase, farnesylated protein-converting enzyme 2, farnesylated proteins-converting enzyme 2, prenyl protein-specific endoprotease 2,
• Gene location: 11q13.2 (66843440: 66846551)     Exons: 8     NC_000011.10
• Gene summary(Entrez): This gene encodes an integral membrane protein which is classified as a member of the metalloproteinase family. This enzyme is thought to function in the maintenance and processing of CAAX-type prenylated proteins. [provided by RefSeq, Jul 2008]
• OMIM: 605991

Protein Summary

• Protein general information: Q9Y256  
  • Name: CAAX prenyl protease 2 (EC 3.4.22. ) (Farnesylated proteins converting enzyme 2) (FACE 2) (Prenyl protein specific endoprotease 2) (RCE1 homolog) (hRCE1)
  • Length: 329  
  • Mass: 35833
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MAALGGDGLRLLSVSRPERPPESAALGGLGPGLCCWVSVFSCLSLACSYVGSLYVWKSELPRDHPAVIKRRFTSV
  LVVSSLSPLCVLLWRELTGIQPGTSLLTLMGFRLEGIFPAALLPLLLTMILFLGPLMQLSMDCPCDLADGLKVVL
  APRSWARCLTDMRWLRNQVIAPLTEELVFRACMLPMLAPCMGLGPAVFTCPLFFGVAHFHHIIEQLRFRQSSVGN
  IFLSAAFQFSYTAVFGAYTAFLFIRTGHLIGPVLCHSFCNYMGFPAVCAALEHPQRRPLLAGYALGVGLFLLLLQ
  PLTDPKLYGSLPLCVLLERAGDSEAPLCS

• Structural information:
  • Interpro: IPR003675  IPR039731  
  • STRING: ENSP00000309163
• Other Databases: GeneCards:  RCE1  Malacards:  RCE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0004222	metalloendopeptidase activity	IBA	molecular function
GO:0071586	CAAX-box protein processing	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0071586	CAAX-box protein processing	IMP	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0071586	CAAX-box protein processing	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00900	Terpenoid backbone biosynthesis

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