POLR3A - RNA polymerase III subunit A Gene

Also Known as ADDH; C160; HLD7; RPC1; WDRTS; RPC155; hRPC155

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11128

About POLR3A

Cytogenetic location: 10q22.3 Genomic coordinates (GRCh38): 10:77,975,149-78,029,515 (from NCBI)

This gene has 20 transcripts (splice variants), 235 orthologues, 2 paralogues and is associated with 9 phenotypes. Ubiquitous expression in brain (RPKM 7.2), testis (RPKM 4.7) and 25 other tissues.

Summary

The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]

POLR3A Products (1)

mRNA Protein Name
NM_007055.4 NP_008986.2 DNA-directed RNA polymerase III subunit RPC1

POLR3A Protein Structure

RNA_pol_Rpb1_1

RNA_pol_Rpb1_1: RNA polymerase Rpb1, domain 1 (13 - 356)

RNA_pol_Rpb1_2

RNA_pol_Rpb1_2: RNA polymerase Rpb1, domain 2 (358 - 524)

RNA_pol_Rpb1_3

RNA_pol_Rpb1_3: RNA polymerase Rpb1, domain 3 (528 - 703)

RNA_pol_Rpb1_4

RNA_pol_Rpb1_4: RNA polymerase Rpb1, domain 4 (732 - 834)

RNA_pol_Rpb1_5

RNA_pol_Rpb1_5: RNA polymerase Rpb1, domain 5 (841 - 1317)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1390 a.a.
Protein Preferred Names Protein Names

DNA-directed RNA polymerase III subunit RPC1

  • DNA-directed RNA polymerase III largest subunit

POLR3A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
POLR3A O14802 PFDN2 Homo sapiens Q9UHV9 25036637
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Wiedemann-Rautenstrauch Syndrome
  • Neonatal Progeroid Syndrome

  • Neonatal Pseudo-Hydrocephalic Progeroid Syndrome

  • WDRTS

  • Progeroid Syndrome, Neonatal

  • Progeroid Syndrome Neonatal

  • Wiedemann Rautenstrauch Syndrome

  • Congenital Pseudohydrocephalic Progeroid Syndrome

  • Neonatal Pseudohydrocephalic Progeroid Syndrome

Polr3-Related Leukodystrophy
  • Pol Iii-Related Leukodystrophy

  • 4h Syndrome

  • 4h Leukodystrophy

  • Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome

  • Pol Iii Disorder

  • Pol Iii-Related Hypomyelinating Leukodystrophies

  • Ribonucleic Acid Polymerase Iii-Related Leukodystrophy

  • Dentoleukoencephalopathy

  • Leukodystrophy With Oligodontia

  • Odontoleukodystrophy

  • Hypomyelinating Leukodystrophy With Or Without Oligondontia And/Or Hypogonadism

  • Addh

  • Ataxia, Delayed Dentition, And Hypomyelination

  • Hcahc

  • Hld7

  • Hld8

  • Hypomyelination With Cerebellar Atrophy And Hypoplasia Of The Corpus Callosum

  • Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism

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

  • Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

  • Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination

  • Lo

  • Tach

  • Tremor-Ataxia With Central Hypomyelination

  • Polr-Related Leukodystrophy

Leukodystrophy, Hypomyelinating, 4
  • Mitochondrial Hsp60 Chaperonopathy

  • Hypomyelinating Leukodystrophy 4

  • HLD4

  • Mitchap60 Disease

  • Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation

  • Mitchap-60 Disease

  • Leukodystrophy, Hypomyelinating, Type 4

Entropion
Leukodystrophy, Hypomyelinating, 11
  • Hypomyelinating Leukodystrophy 11

  • HLD11

  • 4h Leukodystrophy 3

  • Leukodystrophy, Hypomyelinating, Type 11

Hypogonadotropic Hypogonadism
  • Klinefelter Syndrome

  • Klinefelter'S Syndrome

  • Xxy Syndrome

  • Xxy Trisomy

  • Hypogonadotropism

  • 47, Xxy

  • Congenital Idiopathic Hypogonadotropic Hypogonadism

  • Isolated Congenital Gonadotropin Deficiency

  • 47,Xxy Syndrome

  • 47, Xxy Syndrome

  • Klinefelters Syndrome

  • Hypogonadism

  • Klinefelter Syndrome In Males

  • Klinefelter Syndrome, Unspecified

  • Klinefelter Syndrome Karyotype 47, Xxy

Leukodystrophy
  • Leukodystrophies

Hypogonadism
Leukodystrophy, Hypomyelinating, 3
  • Hypomyelinating Leukodystrophy 3

  • HLD3

  • Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation

  • Leukodystrophy, Hypomyelinating 3

  • Perinatal Sudanophilic Leukodystrophy

  • Leukodystrophy, Hypomyelinating, Type 3

  • Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2

Leukodystrophy, Hypomyelinating, 9
  • Hypomyelinating Leukodystrophy 9

  • HLD9

  • Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy

  • Leukodystrophy, Hypomyelinating, Type 9

Cerebellofaciodental Syndrome
  • Cerebellar-Facial-Dental Syndrome

  • CFDS

Leukodystrophy, Hypomyelinating, 6
  • Habc

  • Hypomyelinating Leukodystrophy 6

  • HLD6

  • H-Abc

  • Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum

  • Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

  • Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum

  • HLD

  • Leukodystrophy, Hypomyelinating, Type 6

Spastic Paraplegia 25, Autosomal Recessive
  • SPG25

  • Hereditary Spastic Paraplegia 25

  • Autosomal Recessive Spastic Paraplegia Type 25

  • Spastic Paraplegia 25

  • Disc Herniation With Spastic Paraplegia, Autosomal Recessive

  • Autosomal Recessive Spastic Paraplegia 25

  • Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia

  • Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome

Gordon Holmes Syndrome
  • Cerebellar Ataxia And Hypogonadotropic Hypogonadism

  • Lhrh Deficiency And Ataxia

  • Cerebellar Ataxia-Hypogonadism Syndrome

  • GDHS

  • Cahh

  • Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia

  • Gordon-Holmes Syndrome

  • Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia

  • Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia

  • Cerebellar Ataxia - Hypogonadism

  • Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia

  • Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Hypomyelinating Leukoencephalopathy
Leukodystrophy, Hypomyelinating, 10
  • Hypomyelinating Leukodystrophy 10

  • HLD10

  • Pycr2-Related Microcephaly-Progressive Leukoencephalopathy

  • Leukodystrophy, Hypomyelinating, Type 10

Cerebrooculofacioskeletal Syndrome 2
  • COFS2

  • Cerebro-Oculo-Facio-Skeletal Syndrome 2

  • Cofs Syndrome

Cerebral Degeneration
  • Brain Degeneration

  • Degenerative Brain Disorder

Leukodystrophy, Hypomyelinating, 5
  • Hypomyelination And Congenital Cataract

  • HLD5

  • Hypomyelination-Congenital Cataract Syndrome

  • Hypomyelinating Leukodystrophy 5

  • Hcc

  • Hypomyelination And Congenital Cataract: Hcc

  • Hypomyelination - Congenital Cataract

  • Hypomyelination With Congenital Cataract

Boucher-Neuhauser Syndrome
  • Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome

  • BNHS

  • Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy

  • Boucher-Neuhäuser Syndrome

  • Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism

  • Ataxia - Hypogonadism - Choroidal Dystrophy

  • Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism

  • Bns

  • Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome

  • Boucher Neuhauser Syndrome

Hypomyelinating Leukodystrophy
  • Hld

  • Leukodystrophy, Hypomyelinating

Tooth Agenesis
  • Oligodontia

  • Hypodontia

  • Selective Tooth Agenesis

  • Tooth Agenesis, Selective

  • Familial Tooth Agenesis

  • Anodontia

  • Congenital Absence Of One Tooth

Diffuse Scleroderma
  • Diffuse Systemic Sclerosis

  • Systemic Sclerosis, Diffuse

  • Scleroderma, Diffuse

  • Systemic Scleroderma

  • Progressive System Sclerosis

Pelizaeus-Merzbacher Disease
  • PMD

  • HLD1

  • Pelizaeus-Merzbacher Brain Sclerosis

  • Leukodystrophy, Hypomyelinating, 1

  • Diffuse Familial Brain Sclerosis

  • Pelizaeus Merzbacher Brain Sclerosis

  • Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

  • Cockayne-Pelizaeus-Merzbacher Disease

  • Hypomyelinating Leukodystrophy 1

  • Leukodystrophy, Sudanophilic

  • Pelizaeus Merzbacher Disease

  • Hypomyelinating Leukodystrophy, 1

  • Sudanophilic Leukodystrophy

  • Pelizaeus-Merzbacher Disease, Connatal Form

  • Connatal Pmd

  • Pelizaeus-Merzbacher Disease Type Ii

  • Severe Pmd

  • Null Syndrome

  • Plp1 Null Syndrome

  • Pelizaeus-Merzbacher Disease, Null Syndrome

  • Brain Sclerosis Diffuse Familial

  • Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

  • Leukodystrophy Hypomyelinating 1

  • Diffuse Cerebral Sclerosis Of Schilder

Lagophthalmos
  • Defective Lid Closure

  • Poor Closure Eyelids

Spasticity
Spastic Ataxia
  • Spax

  • Ataxia, Spastic

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

Dystonia 11, Myoclonic
  • Myoclonic Dystonia

  • Myoclonus-Dystonia Syndrome

  • DYT11

  • Myoclonic Dystonia 11

  • Alcohol-Responsive Dystonia

  • Myoclonus, Hereditary Essential

  • Dystonia-11, Myoclonic

  • Myoclonus-Dystonia

  • Dystonia 11

  • Hereditary Essential Myoclonus

  • Dystonia, Alcohol-Responsive

  • Dyt-Sgce

  • Dystonia, Alcohol Responsive

  • Dystonia-11

  • Dystonia, Myoclonic

  • Dystonia, Myoclonic, Type 11

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

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 POLR3A RGD RGD:1305574
Felis catus POLR3A VGNC VGNC:64289
Canis familiaris POLR3A VGNC VGNC:44800
Bos taurus POLR3A VGNC VGNC:33145
Macaca mulatta POLR3A VGNC VGNC:76138
Mus musculus POLR3A MGD MGI:2681836
Others POLR3A NCBI