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RCE1 Ras converting CAAX endopeptidase 1 [ Homo sapiens (human) ]

Gene ID: 9986, updated on 27-Nov-2024

Summary

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Official Symbol
RCE1provided by HGNC
Official Full Name
Ras converting CAAX endopeptidase 1provided by HGNC
Primary source
HGNC:HGNC:13721
See related
Ensembl:ENSG00000173653 MIM:605385; AllianceGenome:HGNC:13721
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FACE2; RCE1A; RCE1B
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]
Expression
Ubiquitous expression in bone marrow (RPKM 9.2), placenta (RPKM 8.3) and 25 other tissues See more
Orthologs
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Genomic context

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See RCE1 in Genome Data Viewer
Location:
11q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66843441..66846552)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66839715..66842826)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66610912..66614023)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene TOP6B like initiator of meiotic double strand breaks Neighboring gene complement C1q binding protein pseudogene 2 Neighboring gene ferritin light chain pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66580049-66580832 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:66609109-66609235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3603 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66610783-66611489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66617715-66618294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66618295-66618873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66644024-66644524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66644525-66645025 Neighboring gene pyruvate carboxylase Neighboring gene leucine rich repeat and fibronectin type III domain containing 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66645752-66646490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66649447-66650184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66650185-66650922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66672605-66673252 Neighboring gene RNA, U7 small nuclear 23 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Human ras-converting enzyme (hRCE1) endoproteolytic activity on K-ras-derived peptides. Hollander I, et al. Anal Biochem, 2000 Nov 1. PMID 11038283
  2. Human Ras converting enzyme endoproteolytic specificity at the P2' and P3' positions of K-Ras-derived peptides. Hollander IJ, et al. Biochim Biophys Acta, 2003 Jun 26. PMID 12818187
  3. Reduced RCE1 expression predicts poor prognosis of colorectal carcinoma. Shi B, et al. BMC Cancer, 2017 Jun 14. PMID 28615075, Free PMC Article
  4. Overexpressed Rce1 is positively correlated with tumor progression and predicts poor prognosis in prostate cancer. Huang L, et al. Hum Pathol, 2016 Jan. PMID 26546252
  5. Rce1 expression in renal cell carcinoma and its regulatory effect on 786-O cell apoptosis through endoplasmic reticulum stress. Li J, et al. Acta Biochim Biophys Sin (Shanghai), 2017 Mar 1. PMID 28159979

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rce1 suppresses invasion and metastasis of hepatocellular carcinoma via epithelial-mesenchymal transition induced by the TGF-beta1/H-Ras signaling pathway.
    Title: Rce1 suppresses invasion and metastasis of hepatocellular carcinoma via epithelial-mesenchymal transition induced by the TGF-β1/H-Ras signaling pathway.
  2. High expression of Rce1 is associated with renal cell carcinoma.
    Title: Rce1 expression in renal cell carcinoma and its regulatory effect on 786-O cell apoptosis through endoplasmic reticulum stress.
  3. RCE1 acts as a tumor suppressor in CRC, as its reduced expression may increase CRC cell invasion and independently predict an unsatisfactory prognosis in CRC patients.
    Title: Reduced RCE1 expression predicts poor prognosis of colorectal carcinoma.
  4. Suggests that expression of Rce1 can serve as an independent biomarker for the prognosis of prostate carcinoma patients.
    Title: Overexpressed Rce1 is positively correlated with tumor progression and predicts poor prognosis in prostate cancer.
  5. A novel RCE1 isoform is required for H-Ras plasma membrane localization regulated by ubiquitin specific peptidase (USP)17.
    Title: A novel RCE1 isoform is required for H-Ras plasma membrane localization and is regulated by USP17.
  6. We found that an 8-aa K-Ras-derived "CAA" peptide, KSKTKC(farnesyl)VI, was a better substrate for hRCE1 than a KSKTKC(f)VIM "CAAX" peptide, hRCE1 has important interaction with the P2' and P3' substrate positions in addition to the farnesylated cysteine
    Title: Human Ras converting enzyme endoproteolytic specificity at the P2' and P3' positions of K-Ras-derived peptides.
  7. CAAX endoprotease Rce1 is required for lamin B1 endoproteolysis
    Title: A carboxyl-terminal interaction of lamin B1 is dependent on the CAAX endoprotease Rce1 and carboxymethylation.
  8. the ras converting enzyme requires its glutamate and histidine residues
    Title: Mutational analysis of the ras converting enzyme reveals a requirement for glutamate and histidine residues.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase activity TAS
Traceable Author Statement
more info
  
enables endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables exopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in CAAX-box protein processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in CAAX-box protein processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in CAAX-box protein processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in MAPK cascade TAS
Traceable Author Statement
more info
  
involved_in protein prenylation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
CAAX prenyl protease 2
Names
RCE1 homolog, prenyl protein peptidase
farnesylated protein-converting enzyme 2
farnesylated proteins-converting enzyme 2
prenyl protein-specific endoprotease 2
NP_001027450.1
NP_005124.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001032279.2 → NP_001027450.1  CAAX prenyl protease 2 isoform 2

    See identical proteins and their annotated locations for NP_001027450.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant uses an alternate splice site in the 5' coding region, compared to variant 1. This difference results in translation initiation at a downstream ATG and an isoform (2) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF121951, AP000485, BC052622
    UniProtKB/TrEMBL
    E9PKA7
    Related
    ENSP00000435409.1, ENST00000525356.1
    Conserved Domains (1) summary
    pfam02517
    Location:67 → 162
    Abi; CAAX protease self-immunity

  2. NM_005133.3 → NP_005124.1  CAAX prenyl protease 2 isoform 1

    See identical proteins and their annotated locations for NP_005124.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF121951, AP000485, BC052622
    Consensus CDS
    CCDS8151.1
    UniProtKB/Swiss-Prot
    Q52LZ9, Q9Y256
    UniProtKB/TrEMBL
    E9PI08
    Related
    ENSP00000309163.3, ENST00000309657.8
    Conserved Domains (1) summary
    pfam02517
    Location:164 → 267
    Abi; CAAX protease self-immunity

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    66843441..66846552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    66839715..66842826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y256.1 GenPept UniProtKB/Swiss-Prot:Q9Y256

Gene LinkOut

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