Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84265
Gene name	RNA polymerase III subunit GL
Gene symbol	POLR3GL
Synonyms (NCBI Gene)	RPC32HOMSOFMflj32422
Chromosome	1
Chromosome location	1q21.1

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs782661984	G>A	Likely-pathogenic	Splice acceptor variant
rs1553763618	G>A	Likely-pathogenic	Splice acceptor variant

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments
MIRT1249363	hsa-miR-1207-5p	CLIP-seq
MIRT1249364	hsa-miR-1909	CLIP-seq
MIRT1249365	hsa-miR-3177-5p	CLIP-seq
MIRT1249366	hsa-miR-4763-3p	CLIP-seq
MIRT2073646	hsa-miR-1324	CLIP-seq
MIRT2073647	hsa-miR-2355-3p	CLIP-seq
MIRT2073648	hsa-miR-4461	CLIP-seq
MIRT2073649	hsa-miR-4646-3p	CLIP-seq
MIRT2073650	hsa-miR-4666-3p	CLIP-seq
MIRT2073651	hsa-miR-485-3p	CLIP-seq
MIRT2073652	hsa-miR-676	CLIP-seq
MIRT2597448	hsa-miR-1231	CLIP-seq
MIRT2597449	hsa-miR-1273e	CLIP-seq
MIRT2597450	hsa-miR-3173-3p	CLIP-seq
MIRT2597451	hsa-miR-3185	CLIP-seq
MIRT2597452	hsa-miR-3190	CLIP-seq
MIRT2597453	hsa-miR-3202	CLIP-seq
MIRT2597454	hsa-miR-3713	CLIP-seq
MIRT2597455	hsa-miR-3925-3p	CLIP-seq
MIRT2597456	hsa-miR-3938	CLIP-seq
MIRT2597457	hsa-miR-4256	CLIP-seq
MIRT2597458	hsa-miR-4271	CLIP-seq
MIRT2597459	hsa-miR-4280	CLIP-seq
MIRT2597460	hsa-miR-4288	CLIP-seq
MIRT2597461	hsa-miR-4491	CLIP-seq
MIRT2597462	hsa-miR-4533	CLIP-seq
MIRT2597463	hsa-miR-4657	CLIP-seq
MIRT2597464	hsa-miR-4680-5p	CLIP-seq
MIRT2597465	hsa-miR-4685-5p	CLIP-seq
MIRT2597466	hsa-miR-4714-5p	CLIP-seq
MIRT2597467	hsa-miR-4725-3p	CLIP-seq
MIRT2597468	hsa-miR-4742-3p	CLIP-seq
MIRT2597469	hsa-miR-4779	CLIP-seq
MIRT2597470	hsa-miR-4793-5p	CLIP-seq
MIRT2597471	hsa-miR-548g	CLIP-seq
MIRT2597472	hsa-miR-582-5p	CLIP-seq
MIRT2597473	hsa-miR-632	CLIP-seq
MIRT2597474	hsa-miR-766	CLIP-seq
MIRT2597475	hsa-miR-935	CLIP-seq
MIRT2597448	hsa-miR-1231	CLIP-seq
MIRT2597449	hsa-miR-1273e	CLIP-seq
MIRT2597451	hsa-miR-3185	CLIP-seq
MIRT2597457	hsa-miR-4256	CLIP-seq
MIRT2597460	hsa-miR-4288	CLIP-seq
MIRT2597464	hsa-miR-4680-5p	CLIP-seq
MIRT2597466	hsa-miR-4714-5p	CLIP-seq
MIRT2597472	hsa-miR-582-5p	CLIP-seq
MIRT2597473	hsa-miR-632	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20154270, 21358628, 25416956, 28514442, 31515488, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	20154270, 24107381
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005666	Component	RNA polymerase III complex	IBA
GO:0005666	Component	RNA polymerase III complex	IDA	24107381
GO:0005829	Component	Cytosol	TAS
GO:0006383	Process	Transcription by RNA polymerase III	IDA	20154270
GO:0006383	Process	Transcription by RNA polymerase III	IEA

MIM	HGNC	e!Ensembl
617457	28466	ENSG00000121851

Q9BT43

Protein name

DNA-directed RNA polymerase III subunit RPC7-like (RNA polymerase III subunit C7-like) (DNA-directed RNA polymerase III subunit G-like) (RNA polymerase III 32 kDa beta subunit) (RPC32-beta)

Protein function

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. {ECO

PDB

5AFQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11705	RNA_pol_3_Rpc31	4 → 204	DNA-directed RNA polymerase III subunit Rpc31	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in CD4-positive T cells. {ECO:0000269|PubMed:20154270, ECO:0000269|PubMed:35637192}.

Sequence

MASRGGGRGRGRGQLTFNVEAVGIGKGDALPPPTLQPSPLFPPLEFRPVPLPSGEEGEYV
LALKQELRGAMRQLPYFIRPAVPKRDVERYSDKYQMSGPIDNAIDWNPDWRRLPRELKIR
VRKLQKERITILLPKRPPKTTEDKEETIQKLETLEKKEEEVTSEEDEEKEEEEEKEEEEE
EEYDEEEHEEETDYIMSYFDNGEDFGGDSDDNMDEAIY

Sequence length

218

Interactions

View interactions

	KEGG		Reactome
	RNA polymerase Cytosolic DNA-sensing pathway		Cytosolic sensors of pathogen-associated DNA RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic; Pathogenic	rs1553763618, rs782661984	RCV000766135 RCV000766136
Hyperostosis	Likely pathogenic; Pathogenic	rs1553763618, rs782661984	RCV000766135 RCV000766136
Oligodontia	Likely pathogenic; Pathogenic	rs1553763618, rs782661984	RCV000766135 RCV000766136
POLR3GL-related disorder	Pathogenic	rs1401599439, rs782661984	RCV003399112 RCV003411691
Short stature	Likely pathogenic; Pathogenic	rs1553763618, rs782661984	RCV000766135 RCV000766136
Short stature, oligodontia, dysmorphic facies, and motor delay	Pathogenic; Likely pathogenic	rs1401599439, rs1553763618, rs782661984	RCV001328381 RCV001328377 RCV001328379

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	37338518
Deafness oligodontia syndrome	Associate	31089205, 31695177
Facial Dysmorphism with Multiple Malformations	Associate	31089205
Growth Disorders	Associate	31089205
Osteochondrodysplasias	Associate	31089205, 31695177
Pancreatic Neoplasms	Associate	36275722
Progeroid syndrome neonatal	Associate	31695177

POLR3GL (RNA polymerase III subunit GL)