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

Gene ID: 9986, updated on 17-Nov-2020

Summary

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
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

Genomic context

See RCE1 in Genome Data Viewer
Location:
11q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66843441..66846552)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66610883..66614003)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene chromosome 11 open reading frame 80 Neighboring gene complement C1q binding protein pseudogene 2 Neighboring gene ferritin light chain pseudogene 6 Neighboring gene pyruvate carboxylase Neighboring gene leucine rich repeat and fibronectin type III domain containing 4 Neighboring gene RNA, U7 small nuclear 23 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001032279.2NP_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/Swiss-Prot
    Q9Y256
    UniProtKB/TrEMBL
    A0A024R5B6, Q0P5W4
    Related
    ENSP00000435409.1, ENST00000525356.1
    Conserved Domains (1) summary
    pfam02517
    Location:67162
    Abi; CAAX protease self-immunity
  2. NM_005133.3NP_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
    Q9Y256
    UniProtKB/TrEMBL
    Q0P5W4
    Related
    ENSP00000309163.3, ENST00000309657.8
    Conserved Domains (1) summary
    pfam02517
    Location:164267
    Abi; CAAX protease self-immunity

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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