1. Gene
  2. PRORP - protein only RNase P catalytic subunit Gene

PRORP - protein only RNase P catalytic subunit Gene

中文名称:仅蛋白质 RNase P 催化亚基

种属: Homo sapiens

同用名: MRPP3; COXPD54; KIAA0391

基因 ID: 9692 | 基因类型: protein coding

关于 PRORP

Cytogenetic location: 14q13.2 Genomic coordinates (GRCh38): 14:35,121,839-35,277,622 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 10.2), kidney (RPKM 8.4) and 25 other tissues.

功能概要

启用核糖核酸酶 P 活性。参与线粒体 tRNA 5'-末端加工。位于线粒体和核质中。线粒体核糖核酸酶 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 activity. Involved in mitochondrial tRNA 5'-end processing. Located in mitochondrion and nucleoplasm. Part of mitochondrial ribonuclease P complex. [provided by Alliance of Genome Resources, Apr 2022]

PRORP 基因产物(6)

mRNA Protein Name
NM_001256678.2 NP_001243607.1 mitochondrial ribonuclease P catalytic subunit isoform 2
NM_001256679.2 NP_001243608.1 mitochondrial ribonuclease P catalytic subunit isoform 3
NM_001256680.2 NP_001243609.1 mitochondrial ribonuclease P catalytic subunit isoform 4
NM_001256681.2 NP_001243610.1 mitochondrial ribonuclease P catalytic subunit isoform 4
NM_001414503.1 NP_001401432.1 mitochondrial ribonuclease P catalytic subunit isoform 1 precursor
NM_014672.4 NP_055487.2 mitochondrial ribonuclease P catalytic subunit isoform 1 precursor
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 ribonuclease P activity IDA
IDA: 通过直接分析推断
25953853 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial tRNA 5'-end processing IDA
IDA: 通过直接分析推断
25953853 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of mitochondrial ribonuclease P complex IDA
IDA: 通过直接分析推断
25953853 GOA
part of mitochondrial ribonuclease P complex IPI
IPI: 通过物理相互作用推断
29880640 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
29880640 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
蛋白主名 其他名称

mitochondrial ribonuclease P catalytic subunit

mitochondrial RNase P protein 3

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 54

COXPD54

Perrault Syndrome 1

PRLTS1

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis Xx Type Deafness

Gonadal Dysgenesis, Xx Type, With Deafness

Gonadal Dysgenesis Xx Type With Deafness

Hypertonia
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type

Hsd10 Disease, Atypical Type

X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome

Mrxs10

Mental Retardation, X-Linked, Syndromic 10

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Anterior Spinal Artery Syndrome

Anterior Spinal Artery Occlusion Syndrome

Codas Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome

Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome

Cerebrooculodentoauriculoskeletal Syndrome

CODASS

Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

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
Macaca mulatta PRORP VGNC VGNC:84425
Rattus norvegicus PRORP RGD RGD:1305089
Felis catus PRORP VGNC VGNC:80885
Bos taurus PRORP VGNC VGNC:55893
Mus musculus PRORP MGD MGI:1913382