POLR3H - RNA polymerase III subunit H Gene

Also Known as C25; RPC8; RPC22.9

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 171568

About POLR3H

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,525,799-41,544,606 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in heart (RPKM 36.2), kidney (RPKM 22.6) and 25 other tissues.

Summary

Enables DNA-directed 5'-3' RNA polymerase activity. Involved in transcription by RNA polymerase III. Located in centrosome and nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Apr 2022]

POLR3H Products (5)

mRNA Protein Name
NM_001018050.4 NP_001018060.1 DNA-directed RNA polymerase III subunit RPC8 isoform a
NM_001018052.4 NP_001018062.1 DNA-directed RNA polymerase III subunit RPC8 isoform b
NM_001282884.2 NP_001269813.1 DNA-directed RNA polymerase III subunit RPC8 isoform a
NM_001282885.2 NP_001269814.1 DNA-directed RNA polymerase III subunit RPC8 isoform a
NM_138338.5 NP_612211.1 DNA-directed RNA polymerase III subunit RPC8 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA-directed 5'-3' RNA polymerase activity IDA
IDA: Inferred from direct assay
12391170 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in nucleobase-containing compound metabolic process IDA
IDA: Inferred from direct assay
12391170 GOA
involved in transcription by RNA polymerase III IDA
IDA: Inferred from direct assay
12391170 GOA
Cellular Component GO Annotation Evidence References Source
part of RNA polymerase III complex IDA
IDA: Inferred from direct assay
12391170 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
12391170 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

POLR3H Protein Structure

SHS2_Rpb7-N

SHS2_Rpb7-N: SHS2 domain found in N terminus of Rpb7p/Rpc25p/MJ0397 (9 - 77)

RNA_pol_Rbc25

RNA_pol_Rbc25: RNA polymerase III subunit Rpc25 (79 - 201)

  • 0
  • 100
  • 204 a.a.
Protein Preferred Names Protein Names

DNA-directed RNA polymerase III subunit RPC8

  • DNA-directed RNA polymerase III subunit 22.9 kDa polypeptide

Related Diseases

Diseases Alias
Infantile Cerebellar-Retinal Degeneration

  • ICRD

  • Infantile Cerebellar Retinal Degeneration

  • Degeneration, Cerebellar-Retinal, Infantile
Optic Atrophy 9

  • OPA9

  • Atrophy, Optic, Type 9
46,Xx Sex Reversal 1

  • 46,Xx Testicular Disorder Of Sex Development

  • 46,Xx Gonadal Dysgenesis

  • SRXX1

  • 46,Xx Gonadal Dysgenesis, Complete, Sry-Positive

  • 46,Xx Testicular Dsd

  • Xx Male Syndrome

  • 46,Xx Complete Gonadal Dysgenesis

  • 46,Xx Pure Gonadal Dysgenesis

  • Follicular Stimulating Hormone-Resistant Ovaries

  • Hypergonadotropic Ovarian Dysgenesis

  • Ovotesticular Disorder Of Sex Development

  • 46,Xx Sex Reversal, Sry-Positive

  • Xx Male, Sry-Positive

  • 46xx Sex Reversal 1

  • 46, Xx Gonadal Sex Reversal

  • Xx Sex Reversal

  • 46,Xx Ovarian Dysgenesis

  • Fsh-Ro

  • Xx Female Gonadal Dysgenesis

  • Xx-Gd

  • 46,Xx Ovotesticular Disorder Of Sex Development

  • 46,Xx Ovotesticular Dsd

  • De La Chapelle Syndrome

  • Xx, Male Syndrome

  • 46,Xx Gonadal Dysgenesis Complete Sry-Positive

  • 46,Xx Sex Reversal Sry-Positive

  • 46,Xx True Hermaphroditism Sry-Positive

  • Ovotesticular Dsd

  • Xx Male Sry-Positive

  • Ovotesticular Disorders Of Sex Development

  • 46, Xx Testicular Disorders Of Sex Development

  • Resistant Ovary Syndrome

  • Dysgenetic Ovaries

  • Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]

  • True Hermaphroditism

  • Ovotestis

  • True Hermaphrodite
Cerebrooculofacioskeletal Syndrome 2

  • COFS2

  • Cerebro-Oculo-Facio-Skeletal Syndrome 2

  • Cofs Syndrome
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
Fanconi Anemia, Complementation Group A

  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia
Premature Menopause

  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos
Hypomyelinating Leukodystrophy

  • Hld

  • Leukodystrophy, Hypomyelinating
Tooth Agenesis

  • Oligodontia

  • Hypodontia

  • Selective Tooth Agenesis

  • Tooth Agenesis, Selective

  • Familial Tooth Agenesis

  • Anodontia

  • Congenital Absence Of One Tooth
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10861 POLR3H Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris POLR3H VGNC VGNC:44806
Mus musculus POLR3H MGD MGI:1926179
Felis catus POLR3H VGNC VGNC:64295
Macaca mulatta POLR3H VGNC VGNC:76144
Rattus norvegicus POLR3H RGD RGD:1305889
Bos taurus POLR3H VGNC VGNC:33152
Others POLR3H NCBI