Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

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

Gene ID: 51082, updated on 19-Jul-2014
Official Symbol
POLR1Dprovided by HGNC
Official Full Name
polymerase (RNA) I polypeptide D, 16kDaprovided by HGNC
Primary source
HGNC:20422
See related
Ensembl:ENSG00000186184; HPRD:14717; HPRD:17877; MIM:613715; Vega:OTTHUMG00000016635
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
AC19; RPA9; TCS2; RPA16; RPAC2; RPC16; POLR1C; RPO1-3
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]
See POLR1D in Epigenomics, MapViewer
Location:
13q12.2
Exon count :
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 13 NC_000013.11 (27620743..27667422)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28194880..28241559)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 63, pseudogene Neighboring gene ligand of numb-protein X 2 Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 4 Neighboring gene GS homeobox 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Treacher collins syndrome 2
MedGen: C3150983 OMIM: 613717 GeneReviews: Treacher Collins Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-08-01)

ISCA Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2013-08-01)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to RNA polymerase I activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to RNA polymerase III activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
DNA-directed RNA polymerase I complex IBA
Inferred from Biological aspect of Ancestor
more info
 
DNA-directed RNA polymerase III complex IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
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

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_028908.1 

    Range
    5001..51680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206559.1NP_001193488.1  DNA-directed RNA polymerases I and III subunit RPAC2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in both UTRs and in the coding region, compared to variant 1. The encoded isoform (3) shares identity with isoform 2 but is distinct and shorter, compared to isoform 1.
    Source sequence(s)
    AK307356, BC015319, BQ004736, DB123903, DB518623, DR156229
    UniProtKB/Swiss-Prot
    Q9Y2S0
  2. NM_015972.3NP_057056.1  DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1

    See proteins identical to NP_057056.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript but encodes the longest isoform (1).
    Source sequence(s)
    BC000889, BI253733, DB455307, DB459107
    Consensus CDS
    CCDS9325.1
    UniProtKB/Swiss-Prot
    Q9Y2S0
    Related
    ENSP00000382603, ENST00000399696
    Conserved Domains (2) summary
    cd07029
    Location:30114
    Blast Score: 399
    RNAP_I_III_AC19; AC19 subunit of Eukaryotic RNA polymerase (RNAP) I and RNAP III
    pfam01193
    Location:4070
    Blast Score: 82
    RNA_pol_L; RNA polymerase Rpb3/Rpb11 dimerization domain
  3. NM_152705.2NP_689918.1  DNA-directed RNA polymerases I and III subunit RPAC2 isoform 2

    See proteins identical to NP_689918.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    BC015319, BQ004736, DB455307, DB459107, DB518623
    Consensus CDS
    CCDS9324.1
    UniProtKB/Swiss-Prot
    Q9Y2S0
    Related
    ENSP00000382604, OTTHUMP00000018172, ENST00000399697, OTTHUMT00000044306

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

    Range
    27620743..27667422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266414.1XP_005266471.1  

    See proteins identical to XP_005266471.1

    UniProtKB/Swiss-Prot
    Q9Y2S0
  2. XM_005266412.1XP_005266469.1  

    See proteins identical to XP_005266469.1

    UniProtKB/Swiss-Prot
    Q9Y2S0
    Related
    ENSP00000302478, OTTHUMP00000018171, ENST00000302979, OTTHUMT00000044305
    Conserved Domains (2) summary
    cd07029
    Location:30114
    Blast Score: 399
    RNAP_I_III_AC19; AC19 subunit of Eukaryotic RNA polymerase (RNAP) I and RNAP III
    pfam01193
    Location:4070
    Blast Score: 82
    RNA_pol_L; RNA polymerase Rpb3/Rpb11 dimerization domain

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    9016135..9062816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

    Range
    28163132..28209817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...