Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9986
Gene name Gene Name - the full gene name approved by the HGNC.
Ras converting CAAX endopeptidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RCE1
Synonyms (NCBI Gene) Gene synonyms aliases
FACE2, RCE1A, RCE1B
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030395 hsa-miR-24-3p Microarray 19748357
MIRT042110 hsa-miR-484 CLASH 23622248
MIRT038128 hsa-miR-423-5p CLASH 23622248
MIRT459207 hsa-miR-548as-3p PAR-CLIP 23592263
MIRT459206 hsa-miR-4259 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IDA 19188362
GO:0004197 Function Cysteine-type endopeptidase activity IBA 21873635
GO:0004222 Function Metalloendopeptidase activity IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IDA 19188362
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605385 13721 ENSG00000173653
Protein
UniProt ID Q9Y256
Protein name CAAX prenyl protease 2 (EC 3.4.26.1) (Farnesylated proteins-converting enzyme 2) (FACE-2) (Prenyl protein-specific endoprotease 2) (RCE1 homolog) (hRCE1)
Protein function Protease involved in the processing of a variety of prenylated proteins containing the C-terminal CAAX motif, where C is a cysteine modified with an isoprenoid lipid, A is an aliphatic amino acid and X is any C-terminal amino acid. Proteolytical
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02517 CPBP 148 267 CPBP intramembrane metalloprotease Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10085068}.
Sequence
MAALGGDGLRLLSVSRPERPPESAALGGLGPGLCCWVSVFSCLSLACSYVGSLYVWKSEL
PRDHPAVIKRRFTSVLVVSSLSPLCVLLWRELTGIQPGTSLLTLMGFRLEGIFPAALLPL
LLTMILFLGPLMQLSMDCPCDLADGLKVVLAPRSWARCLTDMRWLRNQVIAPLTEELVFR
ACMLPMLAPCMGLGPAVFTCPLFFGVAHFHHIIEQLRFRQSSVGNIFLSAAFQFSYTAVF
GAYTAFLFIRTGHLIGPVLCHSFCNYM
GFPAVCAALEHPQRRPLLAGYALGVGLFLLLLQ
PLTDPKLYGSLPLCVLLERAGDSEAPLCS
Sequence length 329
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Terpenoid backbone biosynthesis   Ub-specific processing proteases
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 28615075
Carcinoma Renal Cell Associate 28159979
Colorectal Neoplasms Inhibit 28615075
Neoplasms Inhibit 28615075