Gene Gene information from NCBI Gene database.
Entrez ID 9986
Gene name Ras converting CAAX endopeptidase 1
Gene symbol RCE1
Synonyms (NCBI Gene)
FACE2RCE1ARCE1B
Chromosome 11
Chromosome location 11q13.2
Summary 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.
75
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0004175 Function Endopeptidase activity IDA 19188362
GO:0004175 Function Endopeptidase activity IEA
GO:0004197 Function Cysteine-type endopeptidase activity TAS
GO:0004222 Function Metalloendopeptidase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605385 13721 ENSG00000173653
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 31655058
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31655058
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 26546252
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28615075 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 28159979 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28615075
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28615075 Inhibit
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 28159979
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 31655058
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 31506952
★☆☆☆☆
Found in Text Mining only