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	9533
Gene name	RNA polymerase I and III subunit C
Gene symbol	POLR1C
Synonyms (NCBI Gene)	AC40HLD11RPA39RPA40RPA5RPAC1RPC40TCS3
Chromosome	6
Chromosome location	6p21.1
Summary	The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinat

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141156009	C>T	Pathogenic	Missense variant, coding sequence variant
rs141471029	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs148385032	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs181576159	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs191582628	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs201320592	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs371802902	A>G	Pathogenic	Missense variant, coding sequence variant
rs373046018	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs387907020	A>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs751006626	T>C	Pathogenic	Coding sequence variant, missense variant
rs763593155	C>A,G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs767639108	TATAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs770637715	A>T	Pathogenic	Coding sequence variant, missense variant
rs770857344	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs772343871	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs773388338	G>A	Pathogenic	Coding sequence variant, missense variant
rs780663139	G>-	Likely-pathogenic	Stop gained, coding sequence variant
rs796052125	T>C	Pathogenic	Missense variant, coding sequence variant
rs796052127	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs875989826	AAG>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs1015942660	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057519456	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1156407486	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1255115751	C>T	Pathogenic	Coding sequence variant, missense variant
rs1305006253	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554131502	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1582181247	G>C	Pathogenic	Missense variant, coding sequence variant
rs1582184344	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant

Show/Hide all (5)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032027	hsa-miR-16-5p	Proteomics	18668040
MIRT1248317	hsa-miR-4698	CLIP-seq
MIRT1248318	hsa-miR-495	CLIP-seq
MIRT1248317	hsa-miR-4698	CLIP-seq
MIRT1248318	hsa-miR-495	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0001650	Component	Fibrillar center	IDA
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:0003899	Function	DNA-directed RNA polymerase activity	TAS	9540830
GO:0005515	Function	Protein binding	IPI	16189514, 21988832, 25416956, 27107012, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	33335104
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005666	Component	RNA polymerase III complex	IBA
GO:0005666	Component	RNA polymerase III complex	IDA	24107381, 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:0005736	Component	RNA polymerase I complex	TAS	9540830
GO:0005737	Component	Cytoplasm	IDA	33335104
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006360	Process	Transcription by RNA polymerase I	TAS	9540830
GO:0046983	Function	Protein dimerization activity	IEA

MIM	HGNC	e!Ensembl
610060	20194	ENSG00000171453

O15160

Protein name

DNA-directed RNA polymerases I and III subunit RPAC1 (DNA-directed RNA polymerase I subunit C) (RNA polymerases I and III subunit AC1) (AC40) (DNA-directed RNA polymerases I and III 40 kDa polypeptide) (RPA40) (RPA39) (RPC40)

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
PF01193	RNA_pol_L	62 → 333	RNA polymerase Rpb3/Rpb11 dimerisation domain	Domain
PF01000	RNA_pol_A_bac	92 → 226	RNA polymerase Rpb3/RpoA insert domain	Domain

Sequence

MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENS
LEFDMVGIDAAIANAFRRILLAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHADPR
LFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPNELYVNHKVYTRHMTWIPLGN
QADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGIGKDHAKFSPVATASYRLLPDIT
LLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLA
RVRDHYIFSVESTGVLPPDVLVSEAIKVLMGKCRRFLDELDAVQMD

Sequence length

346

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

153

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypomyelinating leukodystrophy 11	Likely pathogenic; Pathogenic	rs2127691140, rs1793021342, rs1561856961, rs796052124, rs796052125, rs796052126, rs796052127, rs780663139, rs886041661, rs763593155, rs1793020065, rs1057519455, rs1057519456, rs191582628, rs141156009 View all (12 more)	RCV005038324 RCV002506921 RCV002221865 RCV000186585 RCV000186586 RCV000186588 RCV000186589 RCV001198191 RCV000788018 RCV000788030 RCV003388304 RCV000416459 RCV000416417 RCV000788034 RCV000788033 RCV000661923 RCV000788020 RCV000788021 RCV000788023 RCV000788024 RCV000788026 RCV000788027 RCV000788029 RCV000788032 RCV000788035 RCV000788037 RCV000788017
POLR1C-related disorder	Likely pathogenic; Pathogenic	rs796052127, rs2482891698, rs1057519455, rs191582628	RCV003387792 RCV004542633 RCV006263922 RCV002281718
Treacher Collins syndrome 3	Likely pathogenic; Pathogenic	rs2127691140, rs1793021342, rs796052127, rs780663139, rs886041661, rs1057519455, rs191582628, rs1335699710, rs387907020, rs2127686639, rs141156009, rs1554131502, rs1156407486, rs767639108	RCV005038324 RCV002506921 RCV000853238 RCV000490296 RCV005031844 RCV000850585 RCV000023796 RCV000023797 RCV000023798 RCV000023799 RCV000023800 RCV000661924 RCV000850586 RCV002487617

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Uncertain significance	rs771262971, rs745593101	RCV005932551 RCV005899103
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	rs767435882, rs141471029	RCV001375099 RCV001375152
Malignant tumor of esophagus	Uncertain significance	rs745593101	RCV005899104
Ovarian serous cystadenocarcinoma	Uncertain significance	rs751702117	RCV005930553
Treacher Collins Syndrome, Recessive	Uncertain significance	rs886061424, rs745593101, rs886061426	RCV000376937 RCV000373304 RCV000338475
Uterine corpus endometrial carcinoma	Likely benign	rs749820918	RCV005925986

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthma	Associate	39217320
Ataxia	Associate	33804237
Cerebellar Ataxia	Associate	33804237
Craniofacial Abnormalities	Associate	37197783
Developmental Disabilities	Associate	28272532
Dystonia	Associate	31368241
Elejalde Disease	Associate	31089205
Growth Disorders	Associate	33005949
Hypogonadism	Associate	33005949
Hypokalemia Familial	Associate	28272532
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism	Associate	28589944, 33005949, 36042647
Leukodystrophy Metachromatic	Associate	26151409, 28051070, 31368241, 33005949, 36042647, 37197783, 40176224
Mandibulofacial Dysostosis	Associate	26151409, 28051070, 31307516, 32537850, 37197783, 39518953
Methylmalonic acidemia with homocystinuria	Associate	33804237
Myoclonic dystonia	Associate	31368241
Myoclonus	Associate	31368241
Neurodegenerative Diseases	Associate	28272532
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	31368241, 33597727, 33804237
Pelizaeus Merzbacher like disease autosomal recessive 2	Stimulate	40176224
Proteinuria	Associate	28272532
Renal dysplasia limb defects syndrome	Associate	28272532
RNA Virus Infections	Associate	31368241
Rufous oculocutaneous albinism	Associate	31368241

POLR1C (RNA polymerase I and III subunit C)