2. Gene
  3. POLR3K - RNA polymerase III subunit K Gene

POLR3K - RNA polymerase III subunit K Gene

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

中文名称：RNA 聚合酶 III 亚基 K

种属: Homo sapiens

同用名: C11; HLD21; My010; RPC10; RPC11; RPC12.5; C11-RNP3

基因 ID: 51728 | 基因类型: protein coding

关于 POLR3K

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:46,407-53,608 (from NCBI)

This gene has 2 transcripts (splice variants), 197 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 13.5), appendix (RPKM 11.4) and 25 other tissues.

功能概要

该基因编码 RNA 聚合酶 III 的一个小的必需亚基，该聚合酶负责合成真核生物中的转移和小核糖体 RNA。该亚基的羧基末端结构域与 RNA 聚合酶 II 延伸因子的羧基末端结构域具有高度序列相似性。这种序列相似性得到功能研究的支持，表明该亚基是转录过程中正确暂停和终止所必需的。该基因的假基因位于 13 号和 17 号染色体上。[RefSeq 提供，2010 年 7 月]

This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]

POLR3K 基因产物(1)

mRNA Protein Name
NM_016310.5 NP_057394.3 DNA-directed RNA polymerase III subunit RPC10
基因本体论
  • 分子功能
  • 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 zinc ion binding IDA
IDA: 通过直接分析推断
34675218 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of RNA polymerase III complex IDA
IDA: 通过直接分析推断
33335104 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

POLR3K 蛋白结构

RNA_POL_M_15KD

RNA_POL_M_15KD: RNA polymerases M/15 Kd subunit (4 - 34)

TFIIS_C

TFIIS_C: Transcription factor S-II (TFIIS) (68 - 107)

  • 0
  • 100
  • 108 a.a.
蛋白主名 其他名称

DNA-directed RNA polymerase III subunit RPC10

DNA-directed RNA polymerase III subunit K

关联疾病

疾病名称 别名
Leukodystrophy, Hypomyelinating, 21

HLD21
Leukodystrophy

Leukodystrophies
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

HLD7

Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome

Addh

Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism

4h Syndrome

4h Leukodystrophy 1

Hypomyelinating Leukodystrophy 7 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism

Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome

Leukodystrophy With Oligodontia

Tach Syndrome

Tremor-Ataxia-Central Hypomyelination Syndrome

Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition

Ataxia, Delayed Dentition, And Hypomyelination

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Odontoleukodystrophy

Dentoleukoencephalopathy

Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Ataxia Delayed Dentition And Hypomyelination

Leukodystrophy Hypomyelinating With Hypodontia And Hypogonadotropic Hypogonadism 4h Syndrome

Leukoencephalopathy Hypomyelinating With Ataxia And Delayed Dentition

Tach

Tremor-Ataxia With Central Hypomyelination

Attention Deficit Hyperactivity Disorder

Leukodystrophy, Dysmyelinating, With Oligodontia
Cerebellofaciodental Syndrome

Cerebellar-Facial-Dental Syndrome

CFDS
Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type

Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16

Atr Syndrome Linked To Chromosome 16

Atr Syndrome, Deletion Type

Atr-16 Syndrome

Alpha Thalassemia-Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type

Alpha-Thalassemia/Mental Retardation Syndrome, Type 1

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating
Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy

Vanishing White Matter Disease

Ovarioleukodystrophy

Vanishing White Matter Leukodystrophy

Childhood Ataxia With Central Nervous System Hypomyelinization

Cach

Cach Syndrome

Myelinosis Centralis Diffusa

VWM

Cle

Childhood Ataxia With Central Nervous System Hypomyelination

Childhood Ataxia With Diffuse Central Nervous System Hypomyelination

Cach/Vwm

Cach/Vwm Syndrome

Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter

Cree Leukoencehalopathy

Late Infantile Cach Syndrome

Juvenile Or Adult Cach Syndrome

Congenital Or Early Infantile Cach Syndrome

Leukodystrophy With Vanishing White Matter
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Spastic Ataxia

Spax

Ataxia, Spastic
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-RS10862 POLR3K Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus POLR3K RGD RGD:1587294
Macaca mulatta POLR3K VGNC VGNC:76024
Canis familiaris POLR3K VGNC VGNC:44807
Bos taurus POLR3K VGNC VGNC:33153
Mus musculus POLR3K MGD MGI:1914255
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