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] See more...

Aliases for RCE1 Gene

Aliases for RCE1 Gene

  • Ras Converting CAAX Endopeptidase 1 2 3 5
  • Prenyl Protein-Specific Endoprotease 2 2 3 4
  • CAAX Prenyl Protease 2 2 3 4
  • FACE2 2 3 4
  • Farnesylated Proteins-Converting Enzyme 2 3 4
  • Farnesylated Protein-Converting Enzyme 2 2 3
  • FACE-2 2 4
  • RCE1A 3 4
  • RCE1B 3 4
  • HRCE1 2 4
  • RCE1 Homolog, Prenyl Protein Peptidase (S. Cerevisiae) 2
  • RCE1 (S. Cerevisiae) Homolog, Prenyl Protein Protease 2
  • RCE1 Homolog, Prenyl Protein Protease (S. Cerevisiae) 2
  • RCE1 Homolog, Prenyl Protein Peptidase 3
  • RCE1 Homolog, Prenyl Protein Protease 2
  • RCE1 Homolog 4
  • EC 3.4.22.- 4
  • RCE1 5

External Ids for RCE1 Gene

Previous HGNC Symbols for RCE1 Gene

  • RCE1A
  • RCE1B

Previous GeneCards Identifiers for RCE1 Gene

  • GC11P069144
  • GC11P068292
  • GC11P066860
  • GC11P066386
  • GC11P066367
  • GC11P066611
  • GC11P062938

Summaries for RCE1 Gene

Entrez Gene Summary for RCE1 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]

GeneCards Summary for RCE1 Gene

RCE1 (Ras Converting CAAX Endopeptidase 1) is a Protein Coding gene. Diseases associated with RCE1 include Tolosa-Hunt Syndrome and Restrictive Dermopathy, Lethal. Among its related pathways are Metabolism of proteins and Deubiquitination. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity and cysteine-type endopeptidase activity.

UniProtKB/Swiss-Prot Summary for RCE1 Gene

  • Proteolytically removes the C-terminal three residues of farnesylated and geranylated proteins. Seems to be able to process K-Ras, N-Ras, H-Ras, RAP1B and G-gamma-1 (PubMed:10085068).

Gene Wiki entry for RCE1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RCE1 Gene

Genomics for RCE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RCE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RCE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RCE1

Top Transcription factor binding sites by QIAGEN in the RCE1 gene promoter:
  • aMEF-2
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • MEF-2
  • MEF-2A
  • NF-E2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for RCE1 Gene

Genomic Locations for RCE1 Gene
chr11:66,842,835-66,846,552
(GRCh38/hg38)
Size:
3,718 bases
Orientation:
Plus strand
chr11:66,610,306-66,614,017
(GRCh37/hg19)
Size:
3,712 bases
Orientation:
Plus strand

Genomic View for RCE1 Gene

Genes around RCE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCE1 Gene

Proteins for RCE1 Gene

  • Protein details for RCE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y256-FACE2_HUMAN
    Recommended name:
    CAAX prenyl protease 2
    Protein Accession:
    Q9Y256
    Secondary Accessions:
    • Q52LZ9

    Protein attributes for RCE1 Gene

    Size:
    329 amino acids
    Molecular mass:
    35833 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RCE1 Gene

Post-translational modifications for RCE1 Gene

  • Ubiquitinated. Undergoes 'Lys-48'- and 'Lys-63'-linked ubiquitination. 'Lys-48' ubiquitination induces its degradation. Deubiquitinated by USP17L2/USP17 that cleaves 'Lys-63'-linked ubiquitin chains.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RCE1 Gene

No data available for DME Specific Peptides for RCE1 Gene

Domains & Families for RCE1 Gene

Gene Families for RCE1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for RCE1 Gene

InterPro:
Blocks:
  • Abortive infection protein
ProtoNet:

Suggested Antigen Peptide Sequences for RCE1 Gene

GenScript: Design optimal peptide antigens:
  • RCE1 homolog (FACE2_HUMAN)
  • RCE1 protein (Q0P5W4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y256

UniProtKB/Swiss-Prot:

FACE2_HUMAN :
  • Belongs to the peptidase U48 family.
Family:
  • Belongs to the peptidase U48 family.
genes like me logo Genes that share domains with RCE1: view

Function for RCE1 Gene

Molecular function for RCE1 Gene

UniProtKB/Swiss-Prot Function:
Proteolytically removes the C-terminal three residues of farnesylated and geranylated proteins. Seems to be able to process K-Ras, N-Ras, H-Ras, RAP1B and G-gamma-1 (PubMed:10085068).
UniProtKB/Swiss-Prot EnzymeRegulation:
Deubiquitination by USP17L2/USP17 negatively regulates the proteolytic activity toward Ras GTPases.
GENATLAS Biochemistry:
CAAX-prenyl protein protease S cerevisiae Rce1p homolog,,ubiquitously expressed,catalyzing the the first step of the proteolytic processing of farnesylated proteins,including Ras

Enzyme Numbers (IUBMB) for RCE1 Gene

Phenotypes From GWAS Catalog for RCE1 Gene

Gene Ontology (GO) - Molecular Function for RCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 19188362
GO:0004197 cysteine-type endopeptidase activity IEA,IBA 21873635
GO:0004222 metalloendopeptidase activity IEA,IBA 21873635
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RCE1: view
genes like me logo Genes that share phenotypes with RCE1: view

Animal Models for RCE1 Gene

MGI Knock Outs for RCE1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCE1

Clone Products

  • Addgene plasmids for RCE1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RCE1 Gene

Localization for RCE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RCE1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RCE1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 4
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 19188362
GO:0005829 cytosol TAS --
GO:0005887 integral component of plasma membrane TAS 10085068
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with RCE1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RCE1 Gene

Pathways & Interactions for RCE1 Gene

genes like me logo Genes that share pathways with RCE1: view

Pathways by source for RCE1 Gene

1 GeneGo (Thomson Reuters) pathway for RCE1 Gene
  • G-protein signaling_Rap1B regulation pathway

Gene Ontology (GO) - Biological Process for RCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS 10085068
GO:0016579 protein deubiquitination TAS --
GO:0071586 CAAX-box protein processing IEA,IMP 19188362
genes like me logo Genes that share ontologies with RCE1: view

No data available for SIGNOR curated interactions for RCE1 Gene

Drugs & Compounds for RCE1 Gene

(1) Drugs for RCE1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for RCE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RCE1: view

Transcripts for RCE1 Gene

mRNA/cDNA for RCE1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCE1

Clone Products

  • Addgene plasmids for RCE1

Alternative Splicing Database (ASD) splice patterns (SP) for RCE1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c
SP1: - - -
SP2: - - -
SP3: - -
SP4: -
SP5: - -
SP6: - -

Relevant External Links for RCE1 Gene

GeneLoc Exon Structure for
RCE1

Expression for RCE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RCE1 Gene

Protein differential expression in normal tissues from HIPED for RCE1 Gene

This gene is overexpressed in Breast (37.5), Retina (9.2), and Testis (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RCE1 Gene



Protein tissue co-expression partners for RCE1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RCE1

SOURCE GeneReport for Unigene cluster for RCE1 Gene:

Hs.654972

mRNA Expression by UniProt/SwissProt for RCE1 Gene:

Q9Y256-FACE2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RCE1 Gene

  • Nervous system(4.4)
  • Skin(2.6)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with RCE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RCE1 Gene

Orthologs for RCE1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RCE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RCE1 30 31
  • 99.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RCE1 30 31
  • 93.07 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RCE1 30 31
  • 93.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rce1 30 17 31
  • 89.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rce1 30
  • 88.65 (n)
Oppossum
(Monodelphis domestica)
Mammalia RCE1 31
  • 73 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RCE1 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rce1 30
  • 65.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii rce1a 30 31
  • 66.89 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004086 30
  • 51.75 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Sras 30 31 32
  • 50.34 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea fce-2 30 31
  • 41.78 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RCE1 31 33
  • 26 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU11314 30
  • 47.26 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1687.02 30
  • 44.72 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for RCE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RCE1 Gene

ENSEMBL:
Gene Tree for RCE1 (if available)
TreeFam:
Gene Tree for RCE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RCE1: view image

Paralogs for RCE1 Gene

No data available for Paralogs for RCE1 Gene

Variants for RCE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RCE1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
VAR_036407 A breast cancer sample p.Pro326Ala

Additional dbSNP identifiers (rs#s) for RCE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RCE1 Gene

Variant ID Type Subtype PubMed ID
nsv364 CNV insertion 18451855
nsv468602 CNV loss 19166990
nsv508638 CNV deletion 20534489
nsv555225 CNV loss 21841781
nsv555226 CNV gain 21841781
nsv951020 CNV deletion 24416366

Variation tolerance for RCE1 Gene

Residual Variation Intolerance Score: 9.15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RCE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCE1 Gene

Disorders for RCE1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for RCE1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tolosa-hunt syndrome
  • tolosa hunt syndrome
restrictive dermopathy, lethal
  • rd
cavernous sinus thrombosis
  • thrombosis of cavernous venous sinus
prosopagnosia
cardiomyopathy, dilated, 1a
  • cmd1a
- elite association - COSMIC cancer census association via MalaCards
Search RCE1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with RCE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCE1 Gene

Publications for RCE1 Gene

  1. Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins. (PMID: 10373325) Freije JM … López-Otín C (Genomics 1999) 2 3 4 23
  2. Cloning and characterization of a mammalian prenyl protein-specific protease. (PMID: 10085068) Otto JC … Casey PJ (The Journal of biological chemistry 1999) 2 3 4 23
  3. USP17 regulates Ras activation and cell proliferation by blocking RCE1 activity. (PMID: 19188362) Burrows JF … Johnston JA (The Journal of biological chemistry 2009) 3 4 23
  4. Human ras-converting enzyme (hRCE1) endoproteolytic activity on K-ras-derived peptides. (PMID: 11038283) Hollander I … Mallon R (Analytical biochemistry 2000) 3 4 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for RCE1 Gene

Sources for RCE1 Gene