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POLR1D polymerase (RNA) I polypeptide D, 16kDa [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001206559 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10
NM_015972 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10
NM_152705 Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10
XM_005266412 PREDICTED: Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $299.00 14
XM_005266414 PREDICTED: Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $299.00 14

*Business Day

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Gene Symbol POLR1D
Entrez Gene ID 51082
Full Name polymerase (RNA) I polypeptide D, 16kDa
Synonyms AC19, POLR1C, RPA16, RPA9, RPAC2, RPC16, RPO1-3, TCS2
General protein information
Preferred Names
DNA-directed RNA polymerases I and III subunit RPAC2
Names
DNA-directed RNA polymerases I and III subunit RPAC2
RNA polymerases I and III subunit AC2
DNA-directed RNA polymerase I subunit D
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

13

13q12.2

Summary The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011].
Disorder

MIM: 613715

Treacher Collins syndrome 2, 613717 (3)

mRNA Protein Product Sequence Price Select
NM_001206559, 330864728 NP_001193488, 330864729 DNA-directed RNA polymerases I and III subunit RPAC2 isoform 3 ORF Sequence $99.00
NM_015972, 330864725 NP_057056, 7705740 DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1 ORF Sequence $99.00
NM_152705, 330864727 NP_689918, 22749407 DNA-directed RNA polymerases I and III subunit RPAC2 isoform 2 ORF Sequence $99.00
XM_005266412, 530402410 XP_005266469, 530402411 DNA-directed RNA polymerases I and III subunit RPAC2 isoform X1 ORF Sequence $150.00
XM_005266414, 530402414 XP_005266471, 530402415 DNA-directed RNA polymerases I and III subunit RPAC2 isoform X3 ORF Sequence $150.00
KEGG
hsa00240Pyrimidine metabolism
hsa00230Purine metabolism
hsa03020RNA polymerase
hsa04623Cytosolic DNA-sensing pathway
hsa_M00181RNA polymerase III, eukaryotes
hsa_M00182RNA polymerase I, eukaryotes
hsa05169Epstein-Barr virus infection
WikiPathways
WP405Eukaryotic Transcription Initiation
WP231TNF-alpha/NF-kB Signaling Pathway
Reactome
REACT_71Gene Expression
REACT_6900Immune System
REACT_6802Innate Immune System
REACT_2204RNA Polymerase I Chain Elongation
REACT_1913RNA Polymerase I Promoter Escape
REACT_1074RNA Polymerase I Transcription Termination
REACT_1371RNA Polymerase III Transcription
REACT_1974RNA Polymerase I Promoter Clearance
REACT_281RNA Polymerase III Transcription Initiation
REACT_953RNA Polymerase I Transcription Initiation
REACT_571RNA Polymerase III Transcription Initiation From Type 3 Promoter
REACT_756RNA Polymerase III Chain Elongation
REACT_1309RNA Polymerase I Transcription
REACT_347RNA Polymerase III Transcription Initiation From Type 1 Promoter
REACT_1036RNA Polymerase III Transcription Initiation From Type 2 Promoter
REACT_63RNA Polymerase III Transcription Termination
REACT_22339RNA Polymerase III Abortive And Retractive Initiation
REACT_21352RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription
REACT_118823Cytosolic sensors of pathogen-associated DNA
REACT_200834Negative epigenetic regulation of rRNA expression
REACT_200857Epigenetic regulation of gene expression
REACT_200856NoRC negatively regulates rRNA expression
Homo sapiens (human)POLR1DNP_057056.1
Pan troglodytes (chimpanzee)POLR1DXP_003952423.1
Macaca mulatta (Rhesus monkey)POLR1DXP_001110871.1
Canis lupus familiaris (dog)POLR1DXP_003433343.1
Bos taurus (cattle)POLR1DNP_001069612.1
Mus musculus (house mouse)Polr1dNP_033113.1
Gallus gallus (chicken)POLR1DXP_426271.2
Danio rerio (zebrafish)polr1dNP_001003888.1
Drosophila melanogaster (fruit fly)l(2)37CgNP_001260563.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100495369XP_002937095.1
Process
IDNameEvidence
GO:0006360transcription from RNA polymerase I promoterTAS
GO:0006361transcription initiation from RNA polymerase I promoterTAS
GO:0006362transcription elongation from RNA polymerase I promoterTAS
GO:0006363termination of RNA polymerase I transcriptionTAS
GO:0006383transcription from RNA polymerase III promoterTAS
GO:0006385transcription elongation from RNA polymerase III promoterTAS
GO:0006386termination of RNA polymerase III transcriptionTAS
GO:0010467gene expressionTAS
GO:0032481positive regulation of type I interferon productionTAS
GO:0045087innate immune responseTAS
Component
IDNameEvidence
GO:0005654nucleoplasmTAS
GO:0005666DNA-directed RNA polymerase III complexIBA
GO:0005736DNA-directed RNA polymerase I complexIBA
GO:0005829cytosolTAS
Function
IDNameEvidence
GO:0001054RNA polymerase I activityIBA
GO:0001056RNA polymerase III activityIBA
GO:0003677DNA bindingIEA
GO:0046983protein dimerization activityIEA
GeneCards POLR1D
UniProt Q9Y2S0
Vega OTTHUMG00000016635
MIM 613715
Ensembl ENSG00000186184
HGNC 20422
HPRD 17877

Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the POLR1D gene?

The POLR1D gene provides instructions for making one part (subunit) of two related enzymes called RNA polymerase I and RNA polymerase III. These enzymes are involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. Both enzymes help synthesize a form of RNA known as ribosomal RNA (rRNA). RNA polymerase III also plays a role in the synthesis of several other forms of RNA, including transfer RNA (tRNA). Ribosomal RNA and transfer RNA assemble protein building blocks (amino acids) into functioning proteins, which is essential for the normal functioning and survival of cells.

Based on its involvement in Treacher Collins syndrome (described below), the POLR1D gene appears to play a critical role in the early development of structures that become bones and other tissues of the face.

Interactant

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