RCE1 - Ras converting CAAX endopeptidase 1 Gene

Also Known as FACE2; RCE1A; RCE1B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9986

About RCE1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:66,843,441-66,846,552 (from NCBI)

This gene has 9 transcripts (splice variants) and 196 orthologues. Ubiquitous expression in bone marrow (RPKM 9.2), placenta (RPKM 8.3) and 25 other tissues.

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]

RCE1 Products (2)

mRNA Protein Name
NM_001032279.2 NP_001027450.1 CAAX prenyl protease 2 isoform 2
NM_005133.3 NP_005124.1 CAAX prenyl protease 2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables endopeptidase activity IDA
IDA: Inferred from direct assay
19188362 GOA
enables exopeptidase activity IDA
IDA: Inferred from direct assay
10085068 GOA
Biological Process GO Annotation Evidence References Source
involved in CAAX-box protein processing IDA
IDA: Inferred from direct assay
10085068 GOA
involved in CAAX-box protein processing IMP
IMP: Inferred from mutant phenotype
19188362 GOA
involved in protein prenylation IDA
IDA: Inferred from direct assay
10085068 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
19188362 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RCE1 Protein Structure

Abi

Abi: CAAX protease self-immunity (164 - 267)

  • 0
  • 100
  • 200
  • 300
  • 329 a.a.
Protein Preferred Names Protein Names

CAAX prenyl protease 2

  • RCE1 homolog, prenyl protein peptidase

Related Diseases

Diseases Alias
Atrial Septal Defect 1
  • ASD1

  • Atrial Heart Septal Defect 1

  • Asd

Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
  • ADLD

  • Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy

  • Leukodystrophy, Adult-Onset, Autosomal Dominant

  • Adult-Onset Autosomal Dominant Leukodystrophy

  • Autosomal Dominant Leukodystrophy With Autonomic Disease

  • Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy

  • Multiple Sclerosis-Like Disorder

  • Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type, Formerly

  • Autosomal-Dominant Or Late-Onset Type Pelizaeus-Merzbacher Disease

  • Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type

  • Adult-Onset Autosomal Dominant Leukodystrophy With Autonomic Symptoms

  • Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy

  • Leukodystrophy, Demyelinating, Autosomal Dominant, Adult-Onset

  • Pelizaeus-Merzbacher Disease Autosomal Dominant

  • Pelizaeus-Merzbacher Disease Late-Onset Type

  • Adult Onset Autosomal Dominant Leukodystrophy

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
  • EDMD2

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

  • Emd2

  • Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

  • Scapuloilioperoneal Atrophy With Cardiopathy

  • Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

  • Hauptmann-Thannhauser Muscular Dystrophy

  • Cardiomyopathy, Dilated, With Quadriceps Myopathy

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

  • Muscular Dystrophy, Limb-Girdle, Type 1b

  • Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

  • Lgmd1b, Formerly

  • Muscular Dystrophy, Proximal, Type 1b, Formerly

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

  • Lgmd1b

  • Limb-Girdle Muscular Dystrophy 1b

  • Muscular Dystrophy, Proximal, Type 1b

  • Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Cardiomyopathy, Dilated, 1a
  • Dilated Cardiomyopathy 1a

  • Cdcd1

  • CMD1A

  • Cardiomyopathy, Familial Idiopathic

  • Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

  • Cardiomyopathy, Dilated, With Conduction Defect 1

  • Cardiomyopathy, Idiopathic Dilated

  • Cardiomyopathy, Congestive

  • Dilated Cardiomyopathy With Conduction Defect 1

  • Cardiomyopathy Dilated With Conduction Defect Type 1

  • Cardiomyopathy, Dilated 1a

  • Cardiomyopathy Dilated With Conduction Defect 1

  • Cardiomyopathy, Dilated, Type 1a

Hutchinson-Gilford Progeria Syndrome
  • Progeria

  • HGPS

  • Hutchinson-Gilford Syndrome

  • Hutchinson-Gilford Progeria

  • Hutchinson Gilford Syndrome

  • Hutchinson Gilford Progeria Syndrome

  • Hutchinson-Gilford Disease

  • Progeria Of Childhood

  • Hutchinson-Gilford-Progeria Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus RCE1 VGNC VGNC:33828
Macaca mulatta RCE1 VGNC VGNC:76727
Mus musculus RCE1 MGD MGI:1336895
Rattus norvegicus RCE1 RGD RGD:1309261
Felis catus RCE1 VGNC VGNC:64548
Canis familiaris RCE1 VGNC VGNC:56093
Others RCE1 NCBI