1. Gene
  2. RPP40 - ribonuclease P/MRP subunit p40 Gene

RPP40 - ribonuclease P/MRP subunit p40 Gene

中文名称:核糖核酸酶 P/MRP 亚基 p40

种属: Homo sapiens

同用名: RNASEP1; bA428J1.3

基因 ID: 10799 | 基因类型: protein coding

关于 RPP40

Cytogenetic location: 6p25.1 Genomic coordinates (GRCh38): 6:4,988,426-5,004,037 (from NCBI)

This gene has 7 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in adrenal (RPKM 3.2), testis (RPKM 2.4) and 25 other tissues.

功能概要

启用核糖核酸酶 P RNA 结合活性。有助于核糖核酸酶 P 活性。参与 tRNA 5'-前导去除。多聚核糖核酸酶 P 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Part of multimeric ribonuclease P complex. [provided by Alliance of Genome Resources, Apr 2022]

RPP40 基因产物(3)

mRNA Protein Name
NM_001286132.2 NP_001273061.1 ribonuclease P protein subunit p40 isoform b
NM_001286133.2 NP_001273062.1 ribonuclease P protein subunit p40 isoform c
NM_006638.4 NP_006629.2 ribonuclease P protein subunit p40 isoform a
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 protein binding IPI
IPI: 通过物理相互作用推断
15096576 GOA
enables ribonuclease P RNA binding IDA
IDA: 通过直接分析推断
30454648 GOA
contributes to ribonuclease P activity IDA
IDA: 通过直接分析推断
30454648 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in tRNA 5'-leader removal IDA
IDA: 通过直接分析推断
30454648 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of multimeric ribonuclease P complex IDA
IDA: 通过直接分析推断
30454648 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

RPP40 蛋白结构

Ribonuc_P_40

Ribonuc_P_40: Ribonuclease P 40kDa (Rpp40) subunit (74 - 347)

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

ribonuclease P protein subunit p40

RNase P subunit 1

RPP40 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RPP40 O75818 RPP14 Homo sapiens O95059 15096576
种属内
RPP40 O75818 RPP21 Homo sapiens Q9H633 15096576
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Chromosome 6pter-P24 Deletion Syndrome

6p Subtelomeric Deletion Syndrome

6p25 Microdeletion Syndrome

Distal Monosomy 6p

Distal Deletion 6p

Monosomy 6p25

Anauxetic Dysplasia 1

Anauxetic Dysplasia

Spondylometaepiphyseal Dysplasia, Menger Type

Spondylometaepiphyseal Dysplasia, Anauxetic Type

Spondyloepimetaphyseal Dysplasia, Anauxetic Type

ANXD1

Anxd

Spondylometaepiphyseal Dysplasia Anauxetic Type

Spondylometaepiphyseal Dysplasia Menger Type

Ad

Spondyloepimetaphyseal Dysplasia, Menger Type

Dysplasia, Anauxetic, Type 1

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

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
Rattus norvegicus RPP40 RGD RGD:1310228
Felis catus RPP40 VGNC VGNC:64747
Mus musculus RPP40 MGD MGI:1346084
Bos taurus RPP40 VGNC VGNC:34125
Canis familiaris RPP40 VGNC VGNC:45725
Macaca mulatta RPP40 VGNC VGNC:77069