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UniProtKB - Q9BT43 (RPC7L_HUMAN)
Protein
DNA-directed RNA polymerase III subunit RPC7-like
Gene
POLR3GL
Organism
Homo sapiens (Human)
Status
Functioni
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs.
1 PublicationGO - Biological processi
- transcription by RNA polymerase III Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9BT43 |
Reactomei | R-HSA-1834949, Cytosolic sensors of pathogen-associated DNA R-HSA-73780, RNA Polymerase III Chain Elongation R-HSA-73980, RNA Polymerase III Transcription Termination R-HSA-749476, RNA Polymerase III Abortive And Retractive Initiation R-HSA-76061, RNA Polymerase III Transcription Initiation From Type 1 Promoter R-HSA-76066, RNA Polymerase III Transcription Initiation From Type 2 Promoter R-HSA-76071, RNA Polymerase III Transcription Initiation From Type 3 Promoter |
SignaLinki | Q9BT43 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA-directed RNA polymerase III subunit RPC7-likeShort name: RNA polymerase III subunit C7-like Alternative name(s): DNA-directed RNA polymerase III subunit G-like RNA polymerase III 32 kDa beta subunit Short name: RPC32-beta1 Publication |
Gene namesi | Name:POLR3GL |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28466, POLR3GL |
MIMi | 617457, gene |
neXtProti | NX_Q9BT43 |
VEuPathDBi | HostDB:ENSG00000121851 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Cytosol
- cytosol Source: Reactome
Nucleus
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
- RNA polymerase III complex Source: MGI
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM)2 Publications
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder with phenotypic variability. The main clinical features include endosteal hyperostosis, short stature, oligodontia, mild facial dysmorphisms, and delayed motor development. Some patients show progeroid features.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085496 | 120 – 218 | Missing in SOFM; unknown pathological significance; decrease in transcript levels, possibly due to nonsense-mediated mRNA decay. 1 PublicationAdd BLAST | 99 |
Keywords - Diseasei
Disease variant, DwarfismOrganism-specific databases
DisGeNETi | 84265 |
MalaCardsi | POLR3GL |
MIMi | 619234, phenotype |
PharmGKBi | PA134921690 |
Miscellaneous databases
Pharosi | Q9BT43, Tdark |
Genetic variation databases
BioMutai | POLR3GL |
DMDMi | 74733087 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000311590 | 1 – 218 | DNA-directed RNA polymerase III subunit RPC7-likeAdd BLAST | 218 |
Proteomic databases
EPDi | Q9BT43 |
jPOSTi | Q9BT43 |
MassIVEi | Q9BT43 |
MaxQBi | Q9BT43 |
PaxDbi | Q9BT43 |
PeptideAtlasi | Q9BT43 |
PRIDEi | Q9BT43 |
ProteomicsDBi | 78950 |
PTM databases
iPTMneti | Q9BT43 |
PhosphoSitePlusi | Q9BT43 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Developmental stagei
Up-regulated in embryonic stem cells upon retinoic acid-induced differentiation into embroid bodies (at protein level) (PubMed:28494942). No significant changes in mRNA levels between dividing and non-dividing cells, although levels tends to be slightly higher in non-dividing cells (PubMed:20154270, PubMed:24107381).3 Publications
Gene expression databases
Bgeei | ENSG00000121851, Expressed in gastrocnemius and 116 other tissues |
ExpressionAtlasi | Q9BT43, baseline and differential |
Genevisiblei | Q9BT43, HS |
Organism-specific databases
HPAi | ENSG00000121851, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Q9BT43
Protein-protein interaction databases
BioGRIDi | 123992, 32 interactors |
DIPi | DIP-59080N |
IntActi | Q9BT43, 28 interactors |
MINTi | Q9BT43 |
STRINGi | 9606.ENSP00000358320 |
Miscellaneous databases
RNActi | Q9BT43, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 133 – 218 | DisorderedSequence analysisAdd BLAST | 86 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 133 – 158 | Basic and acidic residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 159 – 197 | Acidic residuesSequence analysisAdd BLAST | 39 | |
Compositional biasi | 204 – 218 | Acidic residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Belongs to the eukaryotic RPC7 RNA polymerase subunit family.Curated
Phylogenomic databases
eggNOGi | ENOG502QUPX, Eukaryota |
GeneTreei | ENSGT01040000240524 |
InParanoidi | Q9BT43 |
OMAi | DKYNRSE |
PhylomeDBi | Q9BT43 |
TreeFami | TF103052 |
Family and domain databases
InterProi | View protein in InterPro IPR024661, RNA_pol_III_Rpc31 |
PANTHERi | PTHR15367, PTHR15367, 1 hit |
Pfami | View protein in Pfam PF11705, RNA_pol_3_Rpc31, 1 hit |
PIRSFi | PIRSF000777, RNA_polIII_C31, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9BT43-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MASRGGGRGR GRGQLTFNVE AVGIGKGDAL PPPTLQPSPL FPPLEFRPVP
60 70 80 90 100
LPSGEEGEYV LALKQELRGA MRQLPYFIRP AVPKRDVERY SDKYQMSGPI
110 120 130 140 150
DNAIDWNPDW RRLPRELKIR VRKLQKERIT ILLPKRPPKT TEDKEETIQK
160 170 180 190 200
LETLEKKEEE VTSEEDEEKE EEEEKEEEEE EEYDEEEHEE ETDYIMSYFD
210
NGEDFGGDSD DNMDEAIY
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA6NGX6 | A6NGX6_HUMAN | DNA-directed RNA polymerase III sub... | POLR3GL | 195 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085496 | 120 – 218 | Missing in SOFM; unknown pathological significance; decrease in transcript levels, possibly due to nonsense-mediated mRNA decay. 1 PublicationAdd BLAST | 99 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ418461 mRNA Translation: ABD76394.1 AK056984 mRNA Translation: BAB71332.1 BC004355 mRNA Translation: AAH04355.1 |
CCDSi | CCDS72875.1 |
RefSeqi | NP_001317614.1, NM_001330685.1 NP_115681.1, NM_032305.2 XP_005277488.1, XM_005277431.4 |
Genome annotation databases
Ensembli | ENST00000369314.2; ENSP00000358320.1; ENSG00000121851.13 |
GeneIDi | 84265 |
KEGGi | hsa:84265 |
MANE-Selecti | ENST00000369314.2; ENSP00000358320.1; NM_032305.3; NP_115681.1 |
UCSCi | uc001enp.1, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ418461 mRNA Translation: ABD76394.1 AK056984 mRNA Translation: BAB71332.1 BC004355 mRNA Translation: AAH04355.1 |
CCDSi | CCDS72875.1 |
RefSeqi | NP_001317614.1, NM_001330685.1 NP_115681.1, NM_032305.2 XP_005277488.1, XM_005277431.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5AFQ | X-ray | 7.00 | D/E | 50-134 | [»] | |
AlphaFoldDBi | Q9BT43 | |||||
SMRi | Q9BT43 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123992, 32 interactors |
DIPi | DIP-59080N |
IntActi | Q9BT43, 28 interactors |
MINTi | Q9BT43 |
STRINGi | 9606.ENSP00000358320 |
PTM databases
iPTMneti | Q9BT43 |
PhosphoSitePlusi | Q9BT43 |
Genetic variation databases
BioMutai | POLR3GL |
DMDMi | 74733087 |
Proteomic databases
EPDi | Q9BT43 |
jPOSTi | Q9BT43 |
MassIVEi | Q9BT43 |
MaxQBi | Q9BT43 |
PaxDbi | Q9BT43 |
PeptideAtlasi | Q9BT43 |
PRIDEi | Q9BT43 |
ProteomicsDBi | 78950 |
Protocols and materials databases
Antibodypediai | 33956, 149 antibodies from 15 providers |
DNASUi | 84265 |
Genome annotation databases
Ensembli | ENST00000369314.2; ENSP00000358320.1; ENSG00000121851.13 |
GeneIDi | 84265 |
KEGGi | hsa:84265 |
MANE-Selecti | ENST00000369314.2; ENSP00000358320.1; NM_032305.3; NP_115681.1 |
UCSCi | uc001enp.1, human |
Organism-specific databases
CTDi | 84265 |
DisGeNETi | 84265 |
GeneCardsi | POLR3GL |
HGNCi | HGNC:28466, POLR3GL |
HPAi | ENSG00000121851, Low tissue specificity |
MalaCardsi | POLR3GL |
MIMi | 617457, gene 619234, phenotype |
neXtProti | NX_Q9BT43 |
PharmGKBi | PA134921690 |
VEuPathDBi | HostDB:ENSG00000121851 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QUPX, Eukaryota |
GeneTreei | ENSGT01040000240524 |
InParanoidi | Q9BT43 |
OMAi | DKYNRSE |
PhylomeDBi | Q9BT43 |
TreeFami | TF103052 |
Enzyme and pathway databases
PathwayCommonsi | Q9BT43 |
Reactomei | R-HSA-1834949, Cytosolic sensors of pathogen-associated DNA R-HSA-73780, RNA Polymerase III Chain Elongation R-HSA-73980, RNA Polymerase III Transcription Termination R-HSA-749476, RNA Polymerase III Abortive And Retractive Initiation R-HSA-76061, RNA Polymerase III Transcription Initiation From Type 1 Promoter R-HSA-76066, RNA Polymerase III Transcription Initiation From Type 2 Promoter R-HSA-76071, RNA Polymerase III Transcription Initiation From Type 3 Promoter |
SignaLinki | Q9BT43 |
Miscellaneous databases
BioGRID-ORCSi | 84265, 13 hits in 1078 CRISPR screens |
ChiTaRSi | POLR3GL, human |
GenomeRNAii | 84265 |
Pharosi | Q9BT43, Tdark |
PROi | PR:Q9BT43 |
RNActi | Q9BT43, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000121851, Expressed in gastrocnemius and 116 other tissues |
ExpressionAtlasi | Q9BT43, baseline and differential |
Genevisiblei | Q9BT43, HS |
Family and domain databases
InterProi | View protein in InterPro IPR024661, RNA_pol_III_Rpc31 |
PANTHERi | PTHR15367, PTHR15367, 1 hit |
Pfami | View protein in Pfam PF11705, RNA_pol_3_Rpc31, 1 hit |
PIRSFi | PIRSF000777, RNA_polIII_C31, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | RPC7L_HUMAN | |
Accessioni | Q9BT43Primary (citable) accession number: Q9BT43 Secondary accession number(s): B1MVG5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 13, 2007 |
Last sequence update: | June 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 142 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families