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  2. MTPAP - mitochondrial poly(A) polymerase Gene

MTPAP - mitochondrial poly(A) polymerase Gene

中文名称:线粒体聚 (A) 聚合酶

种属: Homo sapiens

同用名: PAPD1; SPAX4; TENT6

基因 ID: 55149 | 基因类型: protein coding

关于 MTPAP

Cytogenetic location: 10p11.23 Genomic coordinates (GRCh38): 10:30,309,801-30,349,278 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 4.8), testis (RPKM 4.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是类 DNA 聚合酶 B 型家族的成员。这种酶合成线粒体转录物的 3' poly (A) 尾巴,并在复制依赖性组蛋白 mRNA 降解中发挥作用。[RefSeq 提供,2011 年 1 月]

The protein encoded by this gene is a member of the DNA Polymerase type-B-like family. This Enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]

MTPAP 基因产物(1)

mRNA Protein Name
NM_018109.4 NP_060579.3 poly(A) RNA polymerase, mitochondrial precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP binding IDA
IDA: 通过直接分析推断
21292163 GOA
enables UTP binding IDA
IDA: 通过直接分析推断
21292163 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
21292163 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
21292163 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
21292163 GOA
enables poly(A) RNA polymerase activity IDA
IDA: 通过直接分析推断
21292163 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21903422 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
21292163 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in histone mRNA catabolic process IMP
IMP: 通过突变表型推断
18172165 GOA
involved in mitochondrial RNA 3'-end processing IDA
IDA: 通过直接分析推断
21292163 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

MTPAP 蛋白结构

PAP_assoc

PAP_assoc: Cid1 family poly A polymerase (437 - 483)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 582 a.a.
蛋白主名 其他名称

poly(A) RNA polymerase, mitochondrial

PAP-associated domain-containing protein 1

MTPAP 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 MTPAP Q9NVV4 TBK1 Homo sapiens Q9UHD2
Anti Tag CoIP
21903422
Intra MTPAP Q9NVV4 CALCOCO2 Homo sapiens Q13137
Anti Tag CoIP
21903422
Intra MTPAP Q9NVV4 GTF2IRD1 Homo sapiens Q9UHL9
Anti Tag CoIP
33961781
Cross MTPAP Q9NVV4 Azi2 Mus musculus Q9QYP6
Anti Tag CoIP
21903422
Intra MTPAP Q9NVV4 MTPAP Homo sapiens Q9NVV4
X-Ray Diffraction
21292163
Intra MTPAP Q9NVV4 EPS15 Homo sapiens P42566
Phage Display
39009827
Intra MTPAP Q9NVV4 MTPAP Homo sapiens Q9NVV4
Light Scattering
21292163
Intra MTPAP Q9NVV4 MTPAP Homo sapiens Q9NVV4
GMS
21292163
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
Spastic Ataxia 4, Autosomal Recessive

SPAX4

Autosomal Recessive Spastic Ataxia Type 4

Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome

Autosomal Recessive Spastic Ataxia 4

Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria

Ataxia, Spastic, 4, Autosomal Recessive

Spastic Ataxia 4
Spastic Ataxia

Spax

Ataxia, Spastic

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Spinal Muscular Atrophy, Jerash Type

DSMA2

Neuropathy, Distal Hereditary Motor, Jerash Type

Hmnj

Autosomal Recessive Distal Spinal Muscular Atrophy 2

Neuronopathy, Distal Hereditary Motor, Jerash Type

Distal Spinal Muscular Atrophy 2

Dhmnj

Hereditary Motor Neuropathy, Jerash Type

Motor Neuropathy, Distal, Jerash Type

Distal Hereditary Motor Neuropathy, Jerash Type

Distal Hereditary Motor Neuropathy Jerash Type

Spinal Muscular Atrophy Jerash Type

Mndj

Autosomal Recessive Distal Spinal Muscular Atrophy Type 2

Distal Spinal Muscular Atrophy, Autosomal Recessive, 2

Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2

Mitochondrial Dna Depletion Syndrome 13

MTDPS13

Fbxl4 Deficiency

Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome

Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies

Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies

Fbxl4-Related Early-Onset Mitochondrial Encephalopathy

Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type

Bxl4-Related Early-Onset Mitochondrial Encephalopathy

Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13

Fbxl4-Related Early Onset Mitochondrial Encephalopathy

Mitochondrial Dna Depletion Syndrome, Type 13

Mitochondrial Dna Depletion Syndrome 3

Deoxyguanosine Kinase Deficiency

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

MTDPS3

Dguok Deficiency

Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Dguok-Related Mitochondrial Dna Depletion Syndrome

Hepatocerebral Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome, Hepatocerebral Form

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency

Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive

Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type

Mitochondrial Dna Depletion Syndrome , Type 3

Spastic Paraparesis
Perlman Syndrome

Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor

PRLMNS

Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism

Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor

Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor

Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor

Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism

Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome

Renal Hamartomas Nephroblastomatosis And Fetal Gigantism

Nephroblastoma

Fetal Macrosomia

Developmental And Epileptic Encephalopathy 2

Epileptic Encephalopathy, Early Infantile, 2

DEE2

Eiee2

Issx2

Developmental And Epileptic Encephalopathy, 2

Infantile Spasm Syndrome, X-Linked 2

Early Infantile Epileptic Encephalopathy 2

X-Linked Infantile Spasm Syndrome 2

Atypical Rett Syndrome Cdkl5-Related

Atypical Rett Syndrome Hanefeld Variant

Infantile Spasm Syndrome X-Linked 2

Rett Syndrome Early-Onset Seizure Variant

Rett Syndrome Variant With Infantile Spasms

Encephalopathy, Epileptic, Early Infantile, Type 2

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 MTPAP RGD RGD:1310900
Bos taurus MTPAP VGNC VGNC:57009
Macaca mulatta MTPAP VGNC VGNC:106077
Mus musculus MTPAP MGD MGI:1914690
Canis familiaris MTPAP VGNC VGNC:52146