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

Gene ID: 30834, updated on 2-Nov-2024

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
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Genomic context

See POLR1H in Genome Data Viewer
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_000006.12Genomic Context describing neighboring genes Neighboring gene POLR1H antisense, pseudogene Neighboring gene major histocompatibility complex, class I, J (pseudogene) Neighboring gene eukaryotic translation termination factor 1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30028069-30028935 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30028936-30029801 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30041647-30042322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30042323-30042996 Neighboring gene ring finger protein 39 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30068196-30068705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30070193-30070692 Neighboring gene TRIM31 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:30080310-30081509 Neighboring gene tripartite motif containing 31

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • MGC13376

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

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
NP_001265715.1
NP_055411.1
NP_740753.1
XP_047274651.1
XP_054185774.1
XP_054186262.1
XP_054186553.1
XP_054187294.1

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)

  1. NM_001278785.2NP_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:79125
    Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I
    cl28246
    Location:20102
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  2. NM_001278786.2NP_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:79125
    Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I
    cl28246
    Location:20102
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  3. NM_014596.6NP_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:79125
    Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I
    cl28246
    Location:20102
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  4. NM_170783.4NP_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:79125
    Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I
    cl28246
    Location:20102
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

RNA

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    30060062..30064907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418695.1XP_047274651.1  DNA-directed RNA polymerase I subunit RPA12 isoform X1

    UniProtKB/Swiss-Prot
    Q9P1U0
    UniProtKB/TrEMBL
    Q2L6J2

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    1319363..1322999
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    1539839..1544678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329799.1XP_054185774.1  DNA-directed RNA polymerase I subunit RPA12 isoform X1

    UniProtKB/Swiss-Prot
    Q9P1U0
    UniProtKB/TrEMBL
    Q2L6J2

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    1315984..1320823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330287.1XP_054186262.1  DNA-directed RNA polymerase I subunit RPA12 isoform X1

    UniProtKB/Swiss-Prot
    Q9P1U0
    UniProtKB/TrEMBL
    Q2L6J2

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    1320816..1325656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330578.1XP_054186553.1  DNA-directed RNA polymerase I subunit RPA12 isoform X1

    UniProtKB/Swiss-Prot
    Q9P1U0
    UniProtKB/TrEMBL
    Q2L6J2

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    1405358..1408997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    1316447..1320068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    1358984..1363826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331319.1XP_054187294.1  DNA-directed RNA polymerase I subunit RPA12 isoform X1

    UniProtKB/Swiss-Prot
    Q9P1U0
    UniProtKB/TrEMBL
    Q2L6J2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    29925545..29929181
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)