POLR3H - RNA polymerase III subunit H Gene

Homo sapiens

Also known as C25; RPC8; RPC22.9

Gene ID: 171568 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

RNA_pol_Rbc25

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10861	POLR3H Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.