Human polymerase (RNA) I polypeptide D, 16kDa ELISA Kit | POLR1D elisa kit

Human DNA-directed RNA polymerases I and III subunit RPAC2, POLR1D ELISA Kit

Cat. Num. AAA9319774

• Gene Names: POLR1D; AC19; RPA9; TCS2; RPA16; RPAC2; RPC16; POLR1C; RPO1-3
• Reactivity: Human
• Synonyms: polymerase (RNA) I polypeptide D; 16kDa; Human DNA-directed RNA polymerases I and III subunit RPAC2; POLR1D ELISA Kit; Human DNA-directed RNA polymerases I and III subunit RPAC2 (POLR1D) ELISA kit; FLJ20616; MGC9850; POLR1C; RPA16; RPA9; RPAC2; RPO1-3; OTTHUMP00000018171; RNA polymerase I 16 kDa subunit; POLR1D elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 330864729
• NCBI GeneID: 51082
• NCBI Accession #: NP_001193488.1
• NCBI GenBank Nucleotide #: NM_001206559.1
• UniProt Accession #: Q9Y2S0; Q5TBX2; Q96BR3
• Molecular Weight: 15,237 Da
• NCBI Official Full Name: DNA-directed RNA polymerases I and III subunit RPAC2 isoform 3
• NCBI Official Synonym Full Names: polymerase (RNA) I polypeptide D, 16kDa
• NCBI Official Symbol: POLR1D
• NCBI Official Synonym Symbols: AC19; RPA9; TCS2; RPA16; RPAC2; RPC16; POLR1C; RPO1-3
• NCBI Protein Information: DNA-directed RNA polymerases I and III subunit RPAC2; RNA polymerases I and III subunit AC2; DNA-directed RNA polymerase I subunit D
• UniProt Protein Name: DNA-directed RNA polymerases I and III subunit RPAC2
• Protein Family: DNA-directed RNA polymerases
• UniProt Gene Name: POLR1D
• UniProt Synonym Gene Names: RNA polymerases I and III subunit AC2; RPA16
• UniProt Entry Name: RPAC2_HUMAN

NCBI Description

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]

Uniprot Description

POLR1D: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. Defects in POLR1D are the cause of Treacher Collins syndrome type 2 (TCS2). A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine

Chromosomal Location of Human Ortholog: 13q12.2

Cellular Component: nucleoplasm; DNA-directed RNA polymerase III complex; cytosol; DNA-directed RNA polymerase I complex

Molecular Function: protein dimerization activity; DNA binding

Biological Process: transcription from RNA polymerase III promoter; termination of RNA polymerase III transcription; negative regulation of gene expression, epigenetic; positive regulation of interferon type I production; transcription from RNA polymerase I promoter; innate immune response; RNA elongation from RNA polymerase I promoter; gene expression; termination of RNA polymerase I transcription; transcription initiation from RNA polymerase I promoter; regulation of gene expression, epigenetic; RNA elongation from RNA polymerase III promoter