POLR3K - RNA polymerase III subunit K Gene

Also Known as C11; HLD21; My010; RPC10; RPC11; RPC12.5; C11-RNP3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51728

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_016310.5 NP_057394.3 DNA-directed RNA polymerase III subunit RPC10
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
34675218 GOA
Cellular Component GO Annotation Evidence References Source
part of RNA polymerase III complex IDA
IDA: Inferred from direct assay
33335104 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLR3K Protein Structure

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.
Protein Preferred Names Protein Names

DNA-directed RNA polymerase III subunit RPC10

  • DNA-directed RNA polymerase III subunit K

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others POLR3K NCBI