2. Gene
  3. PTCD1 - pentatricopeptide repeat domain 1 Gene

PTCD1 - pentatricopeptide repeat domain 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：五肽重复结构域 1

种属: Homo sapiens

基因 ID: 26024 | 基因类型: protein coding

关于 PTCD1

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:99,416,739-99,438,798 (from NCBI)

This gene has 5 transcripts (splice variants), 190 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 5.8), bone marrow (RPKM 4.7) and 25 other tissues.

功能概要

该基因编码一种线粒体蛋白，该蛋白结合亮氨酸 tRNA 和其他线粒体 RNA，并在翻译调节中发挥作用。该基因表达增加导致线粒体亮氨酸 tRNA 水平降低。上游 ATP5J2 (ATP 合酶、H+ 转运、线粒体 Fo 复合物、亚基 F2) 和该基因之间存在自然发生的通读转录。[RefSeq 提供，2015 年 8 月]

This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP Synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015]

PTCD1 基因产物(1)

mRNA Protein Name
NM_015545.4 NP_056360.2 pentatricopeptide repeat-containing protein 1, mitochondrial
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
32296183 GOA
enables tRNA binding IDA
IDA: 通过直接分析推断
19651879 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in tRNA 3'-end processing IDA
IDA: 通过直接分析推断
21857155 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
19651879 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

PTCD1 蛋白结构

PPR_2

PPR_2: PPR repeat family (176 - 219)

PPR_3

PPR_3: Pentatricopeptide repeat domain (248 - 277)

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

pentatricopeptide repeat-containing protein 1, mitochondrial

PTCD1 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
Intra PTCD1 O75127 NFKBID Homo sapiens Q8NI38
Y2H Prey Pooling
32296183
Intra PTCD1 O75127 NFKBID Homo sapiens Q8NI38
Y2H Array
32296183
Intra PTCD1 O75127 NFKBID Homo sapiens Q8NI38
Validated Y2H
32296183
Intra PTCD1 O75127 TFIP11 Homo sapiens Q9UBB9
Y2H Prey Pooling
32296183
Intra PTCD1 O75127 TFIP11 Homo sapiens Q9UBB9
Validated Y2H
32296183
Intra PTCD1 O75127 TFIP11 Homo sapiens Q9UBB9
Y2H Array
32296183
Intra PTCD1 O75127 MTUS2 Homo sapiens Q5JR59-3
Y2H Prey Pooling
32296183
Intra PTCD1 O75127 MTUS2 Homo sapiens Q5JR59-3
Validated Y2H
32296183
Intra PTCD1 O75127 MTUS2 Homo sapiens Q5JR59-3
Y2H Array
32296183
Intra PTCD1 O75127 GEMIN4 Homo sapiens P57678
Y2H Prey Pooling
32296183
Intra PTCD1 O75127 GEMIN4 Homo sapiens P57678
Y2H Array
32296183
Intra PTCD1 O75127 GEMIN4 Homo sapiens P57678
Validated Y2H
32296183
Intra PTCD1 O75127 CARD10 Homo sapiens Q9BWT7
Y2H Prey Pooling
32296183
Intra PTCD1 O75127 CARD10 Homo sapiens Q9BWT7
Validated Y2H
32296183
Intra PTCD1 O75127 CARD10 Homo sapiens Q9BWT7
Y2H Array
32296183
Intra PTCD1 O75127 FKBP7 Homo sapiens Q9Y680
Y2H Array
32296183
Intra PTCD1 O75127 FKBP7 Homo sapiens Q9Y680
Y2H Prey Pooling
32296183
Intra PTCD1 O75127 FKBP7 Homo sapiens Q9Y680
Validated Y2H
32296183
Intra PTCD1 O75127 SYP Homo sapiens P08247
Y2H Array
32296183
Intra PTCD1 O75127 SYP Homo sapiens P08247
Validated Y2H
32296183
Intra PTCD1 O75127 SYP Homo sapiens P08247
Y2H Prey Pooling
32296183
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
Raynaud-Claes Syndrome

Mrx49

MRXSRC

Mental Retardation, X-Linked 49

Mrx15

Clcn4-Related X-Linked Intellectual Disability Syndrome

Mental Retardation, X-Linked 15

X-Linked Mental Retardation 15

X-Linked Mental Retardation 49

Mental Retardation, X-Linked-49
Deafness, Aminoglycoside-Induced

Streptomycin Ototoxicity

Deafness, Mitochondrial, Modifier Of

Aminoglycoside-Induced Deafness

Deafness, Streptomycin-Induced

Streptomycin-Induced Deafness

DFNI
Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mngie Syndrome

Thymidine Phosphorylase Deficiency

MTDPS4B

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Mngie

Myoneurogastrointestinal Encephalopathy Syndrome

Ogimd

Oculogastrointestinal Muscular Dystrophy

Polip

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

Mngie, Polg-Related

Mepop

Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

Mngie Disease

Mitochondrial Dna Depletion Syndrome 4b Mngie Type

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

Mngie Polg-Related

Mitochondrial Dna Depletion Syndrome, Type 4b

Visceral Myopathy Familial External Ophthalmoplegia
Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11354 PTCD1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PTCD1 MGD MGI:1919049
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