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  2. RCE1 - Ras converting CAAX endopeptidase 1 Gene

RCE1 - Ras converting CAAX endopeptidase 1 Gene

中文名称:Ras 转化 CAAX 内肽酶 1

种属: Homo sapiens

同用名: FACE2; RCE1A; RCE1B

基因 ID: 9986 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种完整的膜蛋白,该蛋白被归类为金属蛋白酶家族的一员。这种酶被认为在 CAAX 型异戊二烯化蛋白质的维持和加工中起作用。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables endopeptidase activity IDA
IDA: 通过直接分析推断
19188362 GOA
enables exopeptidase activity IDA
IDA: 通过直接分析推断
10085068 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in CAAX-box protein processing IDA
IDA: 通过直接分析推断
10085068 GOA
involved in CAAX-box protein processing IMP
IMP: 通过突变表型推断
19188362 GOA
involved in protein prenylation IDA
IDA: 通过直接分析推断
10085068 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
19188362 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RCE1 蛋白结构

Abi

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

  • 0
  • 100
  • 200
  • 300
  • 329 a.a.
蛋白主名 其他名称

CAAX prenyl protease 2

RCE1 homolog, prenyl protein peptidase

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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