1. Gene
  2. PTCD3 - pentatricopeptide repeat domain 3 Gene

PTCD3 - pentatricopeptide repeat domain 3 Gene

中文名称:三肽重复结构域 3

种属: Homo sapiens

同用名: COXPD51; MRP-S39

基因 ID: 55037 | 基因类型: protein coding

关于 PTCD3

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:86,106,235-86,142,157 (from NCBI)

This gene has 20 transcripts (splice variants), 204 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 14.7), heart (RPKM 11.3) and 25 other tissues.

功能概要

启用 rRNA 结合活性和核糖体小亚基结合活性。参与线粒体翻译。位于几种细胞成分中,包括细胞质;线粒体;和核质。涉及联合氧化磷酸化缺陷 51。[由基因组资源联盟提供,2022 年 4 月]

Enables rRNA binding activity and ribosomal small subunit binding activity. Involved in mitochondrial translation. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. Implicated in combined Oxidative Phosphorylation deficiency 51. [provided by Alliance of Genome Resources, Apr 2022]

PTCD3 基因产物(1)

mRNA Protein Name
NM_017952.6 NP_060422.4 pentatricopeptide repeat domain-containing protein 3, mitochondrial 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 protein binding IPI
IPI: 通过物理相互作用推断
19427859 GOA
enables rRNA binding IDA
IDA: 通过直接分析推断
19427859 GOA
enables ribosomal small subunit binding IDA
IDA: 通过直接分析推断
19427859 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial translation IMP
IMP: 通过突变表型推断
19427859 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
19427859 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

PTCD3 蛋白结构

PPR_2

PPR_2: PPR repeat family (254 - 300)

PPR_3

PPR_3: Pentatricopeptide repeat domain (333 - 367)

  • 0
  • 200
  • 400
  • 600
  • 689 a.a.
蛋白主名 其他名称

pentatricopeptide repeat domain-containing protein 3, mitochondrial

28S ribosomal protein S39, mitochondrial

PTCD3 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
PTCD3 Q96EY7 LNX2 Homo sapiens Q8N448
Y2H Array
29892012
种属内
PTCD3 Q96EY7 LNX2 Homo sapiens Q8N448
Y2H Array
31515488
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
Combined Oxidative Phosphorylation Deficiency 51

COXPD51

Combined Oxidative Phosphorylation Deficiency
Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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 PTCD3 RGD RGD:1565582
Macaca mulatta PTCD3 VGNC VGNC:76309
Felis catus PTCD3 VGNC VGNC:64423
Canis familiaris PTCD3 VGNC VGNC:45132
Mus musculus PTCD3 MGD MGI:1917206
Bos taurus PTCD3 VGNC VGNC:33491