POLR1H RNA polymerase I subunit H [Homo sapiens (human)] - Gene

Summary

Official Symbol: POLR1Hprovided by HGNC
Official Full Name: RNA polymerase I subunit Hprovided by HGNC
Primary source: HGNC:HGNC:13182
See related: Ensembl:ENSG00000066379 MIM:607525; AllianceGenome:HGNC:13182
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: TEX6; ZR14; A12.2; HTEX6; Rpa12; ZNRD1; hZR14; HTEX-6; TCTEX6; tctex-6
Summary: This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in lymph node (RPKM 12.3), appendix (RPKM 10.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (30060062..30064907)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (29925545..29929181)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (30029042..30032684)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of RNA polymerase I catalytic core is influenced by RPA12.
Title: Expression of RNA polymerase I catalytic core is influenced by RPA12.
RNA polymerase I subunit 12 plays opposite roles in cell proliferation and migration.
Title: RNA polymerase I subunit 12 plays opposite roles in cell proliferation and migration.
ZNRD1 and Its Antisense Long Noncoding RNA ZNRD1-AS1 Are Oppositely Regulated by Cold Atmospheric Plasma in Breast Cancer Cells.
Title: ZNRD1 and Its Antisense Long Noncoding RNA ZNRD1-AS1 Are Oppositely Regulated by Cold Atmospheric Plasma in Breast Cancer Cells.
ZNRD1-AS and RP11-819C21.1 long non-coding RNA changes following painful laser stimulation correlate with laser-evoked potential amplitude and habituation in healthy subjects: A pilot study.
Title: ZNRD1-AS and RP11-819C21.1 long non-coding RNA changes following painful laser stimulation correlate with laser-evoked potential amplitude and habituation in healthy subjects: A pilot study.
MiR-26b suppresses hepatocellular carcinoma development by negatively regulating ZNRD1 and Wnt/beta-catenin signaling.
Title: MiR-26b suppresses hepatocellular carcinoma development by negatively regulating ZNRD1 and Wnt/β-catenin signaling.
Findings suggest a tumor suppressor function for ZNRD1 gene and a tumor contributor function for long noncoding RNAs (IncRNAs) ZNRD1-AS1 in the process of carcinogenesis of lung cancer.
Title: Strong evidence for LncRNA ZNRD1-AS1, and its functional Cis- eQTL locus contributing more to the susceptibility of lung cancer.
The minor alleles of rs2395029, rs9264942, and rs3689068 in the HCP5 and HLA-C, and ZNRD1 genes associate with lower viral loads (VL) among antiretroviral-naive individuals and with shorter time to first VL less 51 copies/ml during anti-HIV therapy.
Title: Impact of polymorphisms in the HCP5 and HLA-C, and ZNRD1 genes on HIV viral load.
ZNRD1 regulatory SNPs may be susceptibility makers for risk of both chronic HBV infection and HCC.
Title: Expression quantitative trait loci in long non-coding RNA ZNRD1-AS1 influence both HBV infection and hepatocellular carcinoma development.
This study provides novel evidence that ZNRD1 polymorphism may confer host resistance to HIV-1 acquisition.
Title: Regulatory variation in HIV-1 dependency factor ZNRD1 associates with host resistance to HIV-1 acquisition.
A miR-508-5p/ZNRD1/ABCB1 regulatory loop has a critical role in MDR in gastric cancer.
Title: miR-508-5p regulates multidrug resistance of gastric cancer by targeting ABCB1 and ZNRD1.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variation and the control of HIV-1 in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of proneness to anger. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of zinc ribbon domain containing 1 (ZNRD1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to RNA polymerase I activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in nucleobase-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in termination of RNA polymerase I transcription	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of RNA polymerase I complex	IBA Inferred from Biological aspect of Ancestor more info
part_of RNA polymerase I complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: DNA-directed RNA polymerase I subunit RPA12

Names: DNA-directed RNA polymerase I subunit H; RNA polymerase I small specific subunit Rpa12; transcription-associated zinc ribbon protein; zinc ribbon domain containing 1

NP_001265714.1

EC 2.7.7.6

NP_001265715.1

EC 2.7.7.6

NP_055411.1

EC 2.7.7.6

NP_740753.1

EC 2.7.7.6

XP_047274651.1

EC 2.7.7.6

XP_054185774.1

EC 2.7.7.6

XP_054186262.1

EC 2.7.7.6

XP_054186553.1

EC 2.7.7.6

XP_054187294.1

EC 2.7.7.6

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001278785.2 → NP_001265714.1 DNA-directed RNA polymerase I subunit RPA12

See identical proteins and their annotated locations for NP_001265714.1

Status: REVIEWED

Description

Transcript Variant: This variant (c) differs in the 5' UTR, compared to variant a. Variants a, b, c, and d encode the same protein.

Source sequence(s)

AF238321, DN996443, HY071776

Consensus CDS

CCDS4670.1

UniProtKB/Swiss-Prot

Q9P1U0

UniProtKB/TrEMBL

A0A1U9X8Y8, Q2L6J2

Related

ENSP00000365978.2, ENST00000376782.6

Conserved Domains (2) summary

cd10507
Location:79 → 125

Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I

cl28246
Location:20 → 102

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_001278786.2 → NP_001265715.1 DNA-directed RNA polymerase I subunit RPA12

See identical proteins and their annotated locations for NP_001265715.1

Status: REVIEWED

Description

Transcript Variant: This variant (d) differs in the 5' UTR, compared to variant 1. Variants a, b, c, and d encode the same protein.

Source sequence(s)

AF238321, BG503963

Consensus CDS

CCDS4670.1

UniProtKB/Swiss-Prot

Q9P1U0

UniProtKB/TrEMBL

A0A1U9X8Y8, Q2L6J2

Related

ENSP00000365981.2, ENST00000376785.2

Conserved Domains (2) summary

cd10507
Location:79 → 125

Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I

cl28246
Location:20 → 102

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_014596.6 → NP_055411.1 DNA-directed RNA polymerase I subunit RPA12

See identical proteins and their annotated locations for NP_055411.1

Status: REVIEWED

Description

Transcript Variant: This variant (b) differs in the 5' UTR, compared to variant a. Variants a, b, c, and d encode the same protein.

Source sequence(s)

AF238321, HY071776

Consensus CDS

CCDS4670.1

UniProtKB/Swiss-Prot

Q9P1U0

UniProtKB/TrEMBL

A0A1U9X8Y8, Q2L6J2

Related

ENSP00000352333.4, ENST00000359374.8

Conserved Domains (2) summary

cd10507
Location:79 → 125

Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I

cl28246
Location:20 → 102

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_170783.4 → NP_740753.1 DNA-directed RNA polymerase I subunit RPA12

See identical proteins and their annotated locations for NP_740753.1

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the longest transcript. Variants a, b, c, and d encode the same protein.

Source sequence(s)

AF238321, BQ690150, HY071776

Consensus CDS

CCDS4670.1

UniProtKB/Swiss-Prot

Q9P1U0

UniProtKB/TrEMBL

A0A1U9X8Y8, Q2L6J2

Related

ENSP00000331111.5, ENST00000332435.10

Conserved Domains (2) summary

cd10507
Location:79 → 125

Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I

cl28246
Location:20 → 102

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

RNA

NR_103864.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (e) uses an alternate 5' exon structure, and lacks an internal exon, compared to variant a. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF238321, BM798114, HY071776

Related

ENST00000463141.1