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

    Gene ID: 9986, updated on 28-Oct-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
    mouse all
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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 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 (27) 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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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