POLR1C - RNA polymerase I and III subunit C Gene

Homo sapiens

Also known as AC40; RPA5; TCS3; HLD11; RPA39; RPA40; RPAC1; RPC40

Gene ID: 9533 | Gene type: protein coding

About POLR1C

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,517,089-44,461,400 (from NCBI)

This gene has 16 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 7.7), skin (RPKM 5.6) and 25 other tissues.

Summary

The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

POLR1C Products(3)

mRNA	Protein	Name
NM_001318876.2	NP_001305805.1	DNA-directed RNA polymerases I and III subunit RPAC1 isoform 2
NM_001363658.2	NP_001350587.1	DNA-directed RNA polymerases I and III subunit RPAC1 isoform 3
NM_203290.4	NP_976035.1	DNA-directed RNA polymerases I and III subunit RPAC1 isoform 1

POLR1C Protein Structure

RNA_pol_L

RNA_pol_A_bac

0
100
200
300
346 a.a.

Protein Preferred Names

Protein Names

DNA-directed RNA polymerases I and III subunit RPAC1

DNA-directed RNA polymerase I subunit C

Related Diseases

Diseases

Alias

Treacher Collins Syndrome 3

TCS3	Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive
Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive

Leukodystrophy, Hypomyelinating, 11

Hypomyelinating Leukodystrophy 11	HLD11
4h Leukodystrophy 3	Leukodystrophy, Hypomyelinating, Type 11

Primary Bone Dysplasia With Multiple Joint Dislocations

Primary Osteodysplasia With Multiple Joint Dislocations

Primary Skeletal Dysplasia With Multiple Joint Dislocations

Fetal Erythroblastosis

Erythroblastosis, Fetal	Ef - Erythroblastosis Foetalis
Erythroblastosis Fetalis	Haemolytic Disease Due To Rhesus Isoimmunisation
Rhesus Isoimmunisation Of The Newborn

Jaberi-Elahi Syndrome

JABELS

Leukoencephalopathy, Progressive, With Ovarian Failure

LKENP

Combined Oxidative Phosphorylation Deficiency 8

COXPD8	Combined Oxidative Phosphorylation Defect Type 8
Cardiomyopathy, Hypertrophic Mitochondrial, Fatal Infantile	Cardiomyopathy Hypertrophic Mitochondrial Fatal Infantile
Combined Oxidative Phosphorylation Deficiency, Type 8

Ciliary Dyskinesia, Primary, 12

CILD12	Primary Ciliary Dyskinesia 12
Primary Ciliary Dyskinesia 12 Without Situs Inversus	Ciliary Dyskinesia, Primary, 12, Without Situs Inversus
Ics12	Immotile Cilia Syndrome 12
Dyskinesia, Ciliary, Primary, Type 12

Carey-Fineman-Ziter Syndrome 2

CFZS2

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

Treacher Collins Syndrome 1

Treacher Collins Syndrome	Mandibulofacial Dysostosis
Treacher Collins-Franceschetti Syndrome	Tcof
Tcs	Mfd1
Franceschetti-Klein Syndrome	TCS1
Franceschetti Syndrome	Franceschetti-Zwahlen-Klein Syndrome
Zygoauromandibular Dysplasia	Treacher-Collins Syndrome
Mandibulofacial Dysostosis Without Limb Anomalies	Bilateral And Symmetric Oto-Mandibular Dysplasia

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Microvascular Complications Of Diabetes 1

Proliferative Diabetic Retinopathy	Microvascular Complications Of Diabetes, Susceptibility To, 1
MVCD1	Diabetic Nephropathy
Non-Proliferative Diabetic Retinopathy	Nonproliferative Diabetic Retinopathy
Proliferative Retinopathy, Diabetic	Proliferative Retinopathy, Diabetic, Susceptibility To
Nonproliferative Retinopathy, Diabetic	Nonproliferative Retinopathy, Diabetic, Susceptibility To
Pdr	Diabetic End-Stage Renal Disease
Diabetic Neuropathy	Diabetic Neuropathies
Complications Of Diabetes Mellitus	Diabetes Mellitus, Independent Of Type With Proliferative Retinopathy

Leukodystrophy

Leukodystrophies

Superior Semicircular Canal Dehiscence

Superior Canal Dehiscence Syndrome	Superior Semicircular Canal Dehiscence Syndrome
Canal Dehiscence Syndrome	Superior Canal Dehiscence
Superior Canal Syndrome	Third Mobile Window Syndrome
Scds	Anemia, Sickle Cell

Cockayne Syndrome

Cockayne'S Syndrome	Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome	Progeria-Like Syndrome
Progeroid Nanism	Cs

Amusia

Receptive Amusia

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Vestibulocochlear Nerve Disease

Vestibulocochlear Nerve Diseases	Acoustic Nerve Disease
Cochlear Nerve Diseases	Disturbance Of Vestibulocochlear Nerve
Auditory Nerve Disorder	Disorder Of Acoustovestibular Nerve
Disorder Of Eighth Nerve	Eighth Cranial Nerve Disorder
Disease Of Eighth Cranial Nerve	Disease Of Acoustic Nerve
Disease Of Auditory Nerve	Disorder Of 8th Cranial Nerve
Auditory Nerve Lesion	Cochlear Nerve Disorder

Vestibular Neuronitis

Vestibular Neuritis

Epidemic Neurolabyrinthitis

Acrofacial Dysostosis, Cincinnati Type

Acrofacial Dysostosis Cincinnati Type	AFDCIN
Dysostosis, Acrofacial, Cincinnati Type

Labyrinthitis

Labyrinthine Disorder	Inner Ear Inflammation
Otitis Interna	Labyrinth Hyperaemia

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 3	EEC3
Eec Syndrome 3	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Type 3

Peripheral Vertigo

Vertigo, Peripheral

Mouth Disease

Mouth Diseases

Mouth Disorders

Meniere Disease

Meniere'S Disease	Otogenic Vertigo
Ménière Disease	Ménière'S Disease
Mnire'S Vertigo	Auditory Vertigo
Aural Vertigo	Meniere'S Syndrome
Ménière'S Vertigo	Primary Endolymphatic Hydrops
Menieres Disease	Vertigo, Aural
Labyrinth Hydrops	Labyrinthine Hydrops
Labyrinthine Vertigo	Ménière Syndrome
Ménière Vertigo	Idiopathic Endolymphatic Hydrops

Otosclerosis

Otospongiosis

Melnick-Needles Syndrome

MNS	Melnick-Needles Osteodysplasty
Osteodysplasty Of Melnick And Needles	Osteochondrodysplasias

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

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-RS10839	POLR1C Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	POLR1C	VGNC	VGNC:44790
Rattus norvegicus	POLR1C	RGD	RGD:1309689
Bos taurus	POLR1C	VGNC	VGNC:33133
Macaca mulatta	POLR1C	VGNC	VGNC:76081
Mus musculus	POLR1C	MGD	MGI:103288
Felis catus	POLR1C	VGNC	VGNC:64287

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