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POLR1D RNA polymerase I and III subunit D [ Homo sapiens (human) ]

Gene ID: 51082, updated on 8-Dec-2018

Summary

Official Symbol
POLR1Dprovided by HGNC
Official Full Name
RNA polymerase I and III subunit Dprovided by HGNC
Primary source
HGNC:HGNC:20422
See related
Ensembl:ENSG00000186184 MIM:613715
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]
Expression
Ubiquitous expression in testis (RPKM 19.3), adrenal (RPKM 13.6) and 25 other tissues See more
Orthologs

Genomic context

See POLR1D in Genome Data Viewer
Location:
13q12.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 general transcription factor IIIA Neighboring gene mitochondrial translational initiation factor 3 Neighboring gene RNA, U6 small nuclear 63, pseudogene Neighboring gene ligand of numb-protein X 2 Neighboring gene uncharacterized LOC105370128 Neighboring gene nucleophosmin 1 pseudogene 4

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 FunctionsWhat's a GeneRIF?

Phenotypes

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)

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9850, FLJ20616

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-directed 5'-3' RNA polymerase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
RNA polymerase I complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
DNA-directed RNA polymerases I and III subunit RPAC2; Protein POLR1D
Names
DNA-directed RNA polymerase I subunit D
Protein POLR1D, isoform 2
RNA polymerase I subunit D
RNA polymerases I and III subunit AC2
polymerase (RNA) I polypeptide D, 16kDa
polymerase (RNA) I subunit D

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_028908.1 RefSeqGene

    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

    See identical proteins and their annotated locations for NP_001193488.1

    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
    Consensus CDS
    CCDS73555.1
    UniProtKB/Swiss-Prot
    P0DPB5
    UniProtKB/TrEMBL
    A0A087WTY1
    Related
    ENSP00000478213.1, ENST00000621089.2
  2. NM_015972.3NP_057056.1  DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1

    See identical proteins and their annotated locations for 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
    P0DPB6
    Related
    ENSP00000495898.1, ENST00000647448.1
    Conserved Domains (1) summary
    cd07029
    Location:30114
    RNAP_I_III_AC19; AC19 subunit of Eukaryotic RNA polymerase (RNAP) I and RNAP III
  3. NM_152705.2NP_689918.1  Protein POLR1D isoform 2

    See identical proteins and their annotated locations for 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
    P0DPB5
    Related
    ENSP00000382604.3, ENST00000399697.7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005266412.2XP_005266469.1  DNA-directed RNA polymerases I and III subunit RPAC2 isoform X1

    See identical proteins and their annotated locations for XP_005266469.1

    UniProtKB/Swiss-Prot
    P0DPB6
    Conserved Domains (1) summary
    cd07029
    Location:30114
    RNAP_I_III_AC19; AC19 subunit of Eukaryotic RNA polymerase (RNAP) I and RNAP III
  2. XM_017020622.1XP_016876111.1  Protein POLR1D isoform X2

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