POLR1A - RNA polymerase I subunit A Gene

Homo sapiens

Also known as A190; RPA1; RPO14; AFDCIN; RPA190; RPA194; RPO1-4

Gene ID: 25885 | Gene type: protein coding

About POLR1A

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:86,020,216-86,105,886 (from NCBI)

This gene has 15 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 5.9), endometrium (RPKM 5.1) and 25 other tissues.

Summary

The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]

POLR1A Products(1)

mRNA	Protein	Name
NM_015425.6	NP_056240.2	DNA-directed RNA polymerase I subunit RPA1

POLR1A Protein Structure

RNA_pol_Rpb1_1

RNA_pol_Rpb1_2

RNA_pol_Rpb1_3

RNA_pol_Rpb1_4

RNA_pol_Rpb1_5

0
300
600
900
1200
1500
1720 a.a.

Protein Preferred Names

Protein Names

DNA-directed RNA polymerase I subunit RPA1

DNA-directed RNA polymerase I largest subunit

Related Diseases

Diseases

Alias

Acrofacial Dysostosis, Cincinnati Type

Acrofacial Dysostosis Cincinnati Type	AFDCIN
Dysostosis, Acrofacial, Cincinnati Type

Burn-Mckeown Syndrome

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome	Oculootofacial Dysplasia
BMKS	Oofd
Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance	Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome
Choanal Atresia Deafness Cardiac Defects Dysmorphism	Oculo-Oto-Facial Dysplasia

Acrofacial Dysostosis

Dysostosis

Dysostoses

Warsaw Breakage Syndrome

WABS

WBRS

Sweeney-Cox Syndrome

SWCOS

Cockayne Syndrome

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

Osteogenesis Imperfecta, Type Xii

Osteogenesis Imperfecta Type 12	OI12
Osteogenesis Imperfecta Type Xii	Oi, Type Xii
Osteogenesis Imperfecta 12	Oi Type Xii
Oi-Xii	Osteogenesis Imperfecta Sillence Type Iii

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

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia	Aase Syndrome
Erythrogenesis Imperfecta	Anemia, Diamond-Blackfan
Congenital Hypoplastic Anemia	Aase-Smith Ii Syndrome
Bds	Blackfan-Diamond Anemia
Congenital Prca	Congenital Hypoplastic Anemia, Blackfan-Diamond Type
Dba	Blackfan - Diamond Syndrome
Chronic Constitutional Pure Red Cell Anaemia	Anemia Diamond Blackfan Type
Anemia Congenital Erythroid Hypoplastic	Aregenerative Anemia Chronic Congenital
Blackfan Diamond Syndrome	Red Cell Aplasia, Pure Hereditary
Aase-Smith Syndrome Ii	Bda
Blackfan Diamond Anemia	Blackfan-Diamond Disease
Blackfan-Diamond Syndrome	Chronic Congenital Agenerative Anemia
Congenital Erythroid Hypoplastic Anemia	Congenital Hypoplastic Anemia Of Blackfan And Diamond
Congenital Pure Red Cell Anemia	Hypoplastic Congenital Anemia
Inherited Erythroblastopenia	Pure Hereditary Red Cell Aplasia
Anemia, Hypoplastic, Congenital	Anemia Hypoplastic Congenital
Fanconi Anemia	Constitutional Aplastic Anemia
Diamond-Blackfan Anemia 1	Aase Smith Syndrome 2
Congenital Red Cell Aplasia	Red Cell Aplasia Of Infants
Pure Red Cell Aplasia Of Infants	Congenital Red Cell Aplastic Anaemia
Congenital Pure Red Cell Anaemia	Congenital Erythroid Hypoplasia
Pearson Marrow-Pancreas Syndrome

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-RS10837	POLR1A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	POLR1A	VGNC	VGNC:81152
Macaca mulatta	POLR1A	VGNC	VGNC:76044
Canis familiaris	POLR1A	VGNC	VGNC:44788
Mus musculus	POLR1A	MGD	MGI:1096397
Bos taurus	POLR1A	VGNC	VGNC:33131
Rattus norvegicus	POLR1A	RGD	RGD:620824

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