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	51082
Gene name	RNA polymerase I and III subunit D
Gene symbol	POLR1D
Synonyms (NCBI Gene)	AC19POLR1CRPA16RPA9RPAC2RPC16RPO1-3TCS2
Chromosome	13
Chromosome location	13q12.2
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 synd

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1593275599	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, intron variant
rs1593275616	->GG	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, intron variant

187

Show/Hide all (187)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027718	hsa-miR-98-5p	Microarray	19088304
MIRT038262	hsa-miR-374a-3p	CLASH	23622248
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT645720	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT521830	hsa-miR-302f	PAR-CLIP	23446348
MIRT521829	hsa-miR-4459	PAR-CLIP	23446348
MIRT521828	hsa-miR-665	PAR-CLIP	23446348
MIRT521827	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT368709	hsa-miR-4324	PAR-CLIP	23446348
MIRT368708	hsa-miR-544b	PAR-CLIP	23446348
MIRT521826	hsa-miR-3653-5p	PAR-CLIP	23446348
MIRT521825	hsa-miR-4251	PAR-CLIP	23446348
MIRT521824	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT521823	hsa-miR-219b-3p	PAR-CLIP	23446348
MIRT521822	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT521821	hsa-miR-766-5p	PAR-CLIP	23446348
MIRT368706	hsa-miR-1200	PAR-CLIP	23446348
MIRT521820	hsa-miR-580-3p	PAR-CLIP	23446348
MIRT521819	hsa-miR-1273e	PAR-CLIP	23446348
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT645720	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT521830	hsa-miR-302f	PAR-CLIP	23446348
MIRT521829	hsa-miR-4459	PAR-CLIP	23446348
MIRT521828	hsa-miR-665	PAR-CLIP	23446348
MIRT521827	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT368709	hsa-miR-4324	PAR-CLIP	23446348
MIRT368708	hsa-miR-544b	PAR-CLIP	23446348
MIRT521826	hsa-miR-3653-5p	PAR-CLIP	23446348
MIRT521825	hsa-miR-4251	PAR-CLIP	23446348
MIRT521824	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT521823	hsa-miR-219b-3p	PAR-CLIP	23446348
MIRT521822	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT521821	hsa-miR-766-5p	PAR-CLIP	23446348
MIRT368706	hsa-miR-1200	PAR-CLIP	23446348
MIRT521820	hsa-miR-580-3p	PAR-CLIP	23446348
MIRT521819	hsa-miR-1273e	PAR-CLIP	23446348
MIRT1248319	hsa-miR-1252	CLIP-seq
MIRT1248320	hsa-miR-217	CLIP-seq
MIRT1248321	hsa-miR-3130-3p	CLIP-seq
MIRT1248322	hsa-miR-4277	CLIP-seq
MIRT1248323	hsa-miR-4279	CLIP-seq
MIRT1248324	hsa-miR-4314	CLIP-seq
MIRT1248325	hsa-miR-4418	CLIP-seq
MIRT1248326	hsa-miR-4436a	CLIP-seq
MIRT1248327	hsa-miR-4700-3p	CLIP-seq
MIRT1248328	hsa-miR-4718	CLIP-seq
MIRT1248329	hsa-miR-4728-3p	CLIP-seq
MIRT1248330	hsa-miR-4735-5p	CLIP-seq
MIRT1248331	hsa-miR-4793-3p	CLIP-seq
MIRT1248332	hsa-miR-4797-5p	CLIP-seq
MIRT1248333	hsa-miR-509-3-5p	CLIP-seq
MIRT1248334	hsa-miR-509-5p	CLIP-seq
MIRT1248335	hsa-miR-544	CLIP-seq
MIRT1248336	hsa-miR-568	CLIP-seq
MIRT1248337	hsa-miR-576-5p	CLIP-seq
MIRT1248338	hsa-miR-643	CLIP-seq
MIRT1248339	hsa-miR-767-5p	CLIP-seq
MIRT1248340	hsa-miR-873	CLIP-seq
MIRT1248341	hsa-miR-1224-5p	CLIP-seq
MIRT1248342	hsa-miR-1321	CLIP-seq
MIRT1248343	hsa-miR-1324	CLIP-seq
MIRT1248344	hsa-miR-2054	CLIP-seq
MIRT1248345	hsa-miR-21	CLIP-seq
MIRT1248346	hsa-miR-218	CLIP-seq
MIRT1248347	hsa-miR-3148	CLIP-seq
MIRT1248348	hsa-miR-3162-5p	CLIP-seq
MIRT1248349	hsa-miR-3200-5p	CLIP-seq
MIRT1248350	hsa-miR-3617	CLIP-seq
MIRT1248351	hsa-miR-3622b-5p	CLIP-seq
MIRT1248352	hsa-miR-3682-3p	CLIP-seq
MIRT1248353	hsa-miR-3688-5p	CLIP-seq
MIRT1248354	hsa-miR-3978	CLIP-seq
MIRT1248355	hsa-miR-4263	CLIP-seq
MIRT1248356	hsa-miR-4464	CLIP-seq
MIRT1248357	hsa-miR-4480	CLIP-seq
MIRT1248358	hsa-miR-4645-5p	CLIP-seq
MIRT1248359	hsa-miR-4649-3p	CLIP-seq
MIRT1248360	hsa-miR-4673	CLIP-seq
MIRT1248361	hsa-miR-4739	CLIP-seq
MIRT1248362	hsa-miR-4748	CLIP-seq
MIRT1248363	hsa-miR-4751	CLIP-seq
MIRT1248364	hsa-miR-4755-3p	CLIP-seq
MIRT1248365	hsa-miR-4756-5p	CLIP-seq
MIRT1248366	hsa-miR-4764-5p	CLIP-seq
MIRT1248367	hsa-miR-4778-3p	CLIP-seq
MIRT1248368	hsa-miR-488	CLIP-seq
MIRT1248336	hsa-miR-568	CLIP-seq
MIRT1248337	hsa-miR-576-5p	CLIP-seq
MIRT1248369	hsa-miR-590-5p	CLIP-seq
MIRT1248370	hsa-miR-604	CLIP-seq
MIRT1248371	hsa-miR-641	CLIP-seq
MIRT1248372	hsa-miR-647	CLIP-seq
MIRT1248319	hsa-miR-1252	CLIP-seq
MIRT2073304	hsa-miR-142-5p	CLIP-seq
MIRT2073305	hsa-miR-186	CLIP-seq
MIRT2073306	hsa-miR-3133	CLIP-seq
MIRT2073307	hsa-miR-340	CLIP-seq
MIRT1248356	hsa-miR-4464	CLIP-seq
MIRT2073308	hsa-miR-4490	CLIP-seq
MIRT2073309	hsa-miR-4691-5p	CLIP-seq
MIRT1248362	hsa-miR-4748	CLIP-seq
MIRT1248368	hsa-miR-488	CLIP-seq
MIRT2073310	hsa-miR-552	CLIP-seq
MIRT1248337	hsa-miR-576-5p	CLIP-seq
MIRT2073311	hsa-miR-642b	CLIP-seq
MIRT2300394	hsa-miR-423-3p	CLIP-seq
MIRT2300395	hsa-miR-4660	CLIP-seq
MIRT2300396	hsa-miR-4730	CLIP-seq
MIRT2073311	hsa-miR-642b	CLIP-seq
MIRT2300397	hsa-miR-646	CLIP-seq
MIRT2300398	hsa-miR-4325	CLIP-seq
MIRT2300399	hsa-miR-507	CLIP-seq
MIRT2300400	hsa-miR-557	CLIP-seq
MIRT2597145	hsa-miR-1237	CLIP-seq
MIRT2597146	hsa-miR-1248	CLIP-seq
MIRT2597147	hsa-miR-1294	CLIP-seq
MIRT1248342	hsa-miR-1321	CLIP-seq
MIRT2597148	hsa-miR-141	CLIP-seq
MIRT2597149	hsa-miR-200a	CLIP-seq
MIRT2597150	hsa-miR-3119	CLIP-seq
MIRT2597151	hsa-miR-3145-5p	CLIP-seq
MIRT2597152	hsa-miR-3158-3p	CLIP-seq
MIRT1248348	hsa-miR-3162-5p	CLIP-seq
MIRT2597153	hsa-miR-3171	CLIP-seq
MIRT1248351	hsa-miR-3622b-5p	CLIP-seq
MIRT2597154	hsa-miR-3668	CLIP-seq
MIRT1248353	hsa-miR-3688-5p	CLIP-seq
MIRT2597155	hsa-miR-4316	CLIP-seq
MIRT1248361	hsa-miR-4739	CLIP-seq
MIRT1248364	hsa-miR-4755-3p	CLIP-seq
MIRT1248365	hsa-miR-4756-5p	CLIP-seq
MIRT1248366	hsa-miR-4764-5p	CLIP-seq
MIRT2597156	hsa-miR-4775	CLIP-seq
MIRT2597157	hsa-miR-494	CLIP-seq
MIRT2597158	hsa-miR-578	CLIP-seq
MIRT2597159	hsa-miR-590-3p	CLIP-seq
MIRT1248370	hsa-miR-604	CLIP-seq
MIRT1248372	hsa-miR-647	CLIP-seq
MIRT1248341	hsa-miR-1224-5p	CLIP-seq
MIRT2597145	hsa-miR-1237	CLIP-seq
MIRT2597146	hsa-miR-1248	CLIP-seq
MIRT1248342	hsa-miR-1321	CLIP-seq
MIRT2597148	hsa-miR-141	CLIP-seq
MIRT2597149	hsa-miR-200a	CLIP-seq
MIRT2597150	hsa-miR-3119	CLIP-seq
MIRT2597151	hsa-miR-3145-5p	CLIP-seq
MIRT2597152	hsa-miR-3158-3p	CLIP-seq
MIRT1248348	hsa-miR-3162-5p	CLIP-seq
MIRT2597153	hsa-miR-3171	CLIP-seq
MIRT1248349	hsa-miR-3200-5p	CLIP-seq
MIRT1248351	hsa-miR-3622b-5p	CLIP-seq
MIRT2597154	hsa-miR-3668	CLIP-seq
MIRT1248352	hsa-miR-3682-3p	CLIP-seq
MIRT1248353	hsa-miR-3688-5p	CLIP-seq
MIRT1248358	hsa-miR-4645-5p	CLIP-seq
MIRT1248359	hsa-miR-4649-3p	CLIP-seq
MIRT1248360	hsa-miR-4673	CLIP-seq
MIRT1248361	hsa-miR-4739	CLIP-seq
MIRT1248363	hsa-miR-4751	CLIP-seq
MIRT1248364	hsa-miR-4755-3p	CLIP-seq
MIRT1248365	hsa-miR-4756-5p	CLIP-seq
MIRT1248366	hsa-miR-4764-5p	CLIP-seq
MIRT2597158	hsa-miR-578	CLIP-seq
MIRT1248370	hsa-miR-604	CLIP-seq
MIRT1248372	hsa-miR-647	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003899	Function	DNA-directed RNA polymerase activity	IBA
GO:0003899	Function	DNA-directed RNA polymerase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 21988832, 25416956, 32296183, 32814053, 33961781, 35271311
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	33335104, 34675218
GO:0005730	Component	Nucleolus	IEA
GO:0005736	Component	RNA polymerase I complex	IBA
GO:0005736	Component	RNA polymerase I complex	IDA	34671025, 36271492
GO:0005736	Component	RNA polymerase I complex	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006362	Process	Transcription elongation by RNA polymerase I	IBA
GO:0006383	Process	Transcription by RNA polymerase III	IBA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0055029	Component	Nuclear DNA-directed RNA polymerase complex	IEA

MIM	HGNC	e!Ensembl
613715	20422	ENSG00000186184

P0DPB6

Protein name

DNA-directed RNA polymerases I and III subunit RPAC2 (RNA polymerases I and III subunit AC2) (AC19) (DNA-directed RNA polymerase I subunit D) (RNA polymerase I 16 kDa subunit) (RPA16) (RPC16) (hRPA19)

Protein function

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs

PDB

7A6H , 7AE1 , 7AE3 , 7AEA , 7AST , 7D58 , 7D59 , 7DN3 , 7DU2 , 7FJI , 7FJJ , 7OB9 , 7OBA , 7OBB , 7VBA , 7VBB , 7VBC , 8A43 , 8ITY , 8IUE , 8IUH , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13656	RNA_pol_L_2	39 → 113	RNA polymerase Rpb3/Rpb11 dimerisation domain	Domain

Sequence

MEEDQELERKISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVLHEEDHTLGNSLRYMIM
KNPEVEFCGYTTTHPSESKINLRIQTRGTLPAVEPFQRGLNELMNVCQHVLDKFEASIKD
YKDQKASRNESTF

Sequence length

133

P0DPB5

Protein name

Protein POLR1D, isoform 2

Family and domains

Sequence

MEEDQELERKAIEELLKEAKRGKTRAETMGPMGWMKCPLASTNKRFLINTIKNTLPSHKE
QDHEQKEGDKEPAKSQAQKEENPKKHRSHPYKHSFRARGSASYSPPRKRSSQDKYEKRSN
RR

Sequence length

122

Interactions

View interactions

	KEGG		Reactome
	RNA polymerase Cytosolic DNA-sensing pathway		Cytosolic sensors of pathogen-associated DNA B-WICH complex positively regulates rRNA expression RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape RNA Polymerase I Transcription Termination 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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
POLR1D-related disorder	Likely pathogenic	rs2500475304, rs2500474635	RCV003402567 RCV003894390
Treacher Collins syndrome	Pathogenic	rs587777841	RCV003319179
Treacher Collins syndrome 2	Pathogenic; Likely pathogenic	rs587777841, rs2138519077, rs2500474424, rs2500474235, rs1593275599, rs767196650, rs1593275448, rs2138519194, rs1593275616, rs1593275363	RCV000144520 RCV002269139 RCV002283731 RCV002474262 RCV000024043 RCV000024044 RCV000024045 RCV000024046 RCV000024047 RCV000024048

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs73432869	RCV005915777
Cholangiocarcinoma	Benign	rs73432869	RCV005915779
Hearing impairment	Uncertain significance	rs2138519035	RCV001375417
Sarcoma	Benign	rs73432869	RCV005915778

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Colorectal Neoplasms	Associate	19359472, 32087735
Kininogen Deficiency High Molecular Weight and Low Molecular Weight	Associate	25790162
Mandibulofacial Dysostosis	Associate	24603435, 25790162, 31307516, 32537850, 37222571, 39518953
Multiple Sclerosis	Associate	23077530
Neoplasms	Inhibit	19359472
Parkinson Disease	Associate	31199560
Squamous Cell Carcinoma of Head and Neck	Associate	38256104

POLR1D (RNA polymerase I and III subunit D)