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POLR1A RNA polymerase I subunit A [ Homo sapiens (human) ]

Gene ID: 25885, updated on 8-Nov-2020

Summary

Official Symbol
POLR1Aprovided by HGNC
Official Full Name
RNA polymerase I subunit Aprovided by HGNC
Primary source
HGNC:HGNC:17264
See related
Ensembl:ENSG00000068654 MIM:616404
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
A190; RPA1; RPO14; AFDCIN; RPA190; RPA194; RPO1-4
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]
Expression
Ubiquitous expression in testis (RPKM 5.9), endometrium (RPKM 5.1) and 25 other tissues See more
Orthologs

Genomic context

See POLR1A in Genome Data Viewer
Location:
2p11.2
Exon count:
34
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (86020216..86105886, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (86253451..86333278, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268420 Neighboring gene uncharacterized LOC105374843 Neighboring gene CRISPRi-validated cis-regulatory element chr2.3134 Neighboring gene conserved acetylation island sequence 34 enhancer Neighboring gene pentatricopeptide repeat domain 3 Neighboring gene small nucleolar RNA, C/D box 94 Neighboring gene inner membrane mitochondrial protein Neighboring gene microRNA 4779

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10750, FLJ21915, MGC87965, DKFZp586M0122

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to DNA-directed 5'-3' RNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase I activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
RNA polymerase I complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
DNA-directed RNA polymerase I subunit RPA1
Names
DNA-directed RNA polymerase I largest subunit
DNA-directed RNA polymerase I subunit A
DNA-directed RNA polymerase I subunit A1
RNA polymerase I 194 kDa subunit
polymerase (RNA) I polypeptide A, 194kDa
polymerase (RNA) I subunit A
NP_056240.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050742.2 RefSeqGene

    Range
    5270..90940
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015425.6NP_056240.2  DNA-directed RNA polymerase I subunit RPA1

    See identical proteins and their annotated locations for NP_056240.2

    Status: REVIEWED

    Source sequence(s)
    AC012511, AK302458, AK307490, BC073824, BP363163
    Consensus CDS
    CCDS42706.1
    UniProtKB/Swiss-Prot
    O95602
    Related
    ENSP00000263857.6, ENST00000263857.11
    Conserved Domains (4) summary
    cd02735
    Location:11991716
    RNAP_I_Rpa1_C; Largest subunit (Rpa1) of Eukaryotic RNA polymerase I (RNAP I), C-terminal domain
    PRK08566
    Location:41025
    PRK08566; DNA-directed RNA polymerase subunit A'; Validated
    cd01435
    Location:161004
    RNAP_I_RPA1_N; Largest subunit (RPA1) of eukaryotic RNA polymerase I (RNAP I), N-terminal domain
    pfam04998
    Location:9581671
    RNA_pol_Rpb1_5; RNA polymerase Rpb1, domain 5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    86020216..86105886 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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