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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2975
Gene name	General transcription factor IIIC subunit 1
Gene symbol	GTF3C1
Synonyms (NCBI Gene)	TFIIICTFIIIC220TFIIICalpha
Chromosome	16
Chromosome location	16p12.1

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1060499746	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant

173

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miRTarBase ID	miRNA	Experiments	Reference
MIRT025502	hsa-miR-34a-5p	Proteomics	21566225
MIRT031871	hsa-miR-16-5p	Proteomics	18668040
MIRT052608	hsa-let-7a-5p	CLASH	23622248
MIRT052302	hsa-let-7b-5p	CLASH	23622248
MIRT052302	hsa-let-7b-5p	CLASH	23622248
MIRT051862	hsa-let-7c-5p	CLASH	23622248
MIRT051696	hsa-let-7e-5p	CLASH	23622248
MIRT049374	hsa-miR-92a-3p	CLASH	23622248
MIRT043154	hsa-miR-324-5p	CLASH	23622248
MIRT042291	hsa-miR-484	CLASH	23622248
MIRT040489	hsa-miR-598-3p	CLASH	23622248
MIRT040008	hsa-miR-615-3p	CLASH	23622248
MIRT040008	hsa-miR-615-3p	CLASH	23622248
MIRT036747	hsa-miR-760	CLASH	23622248
MIRT036692	hsa-miR-935	CLASH	23622248
MIRT036584	hsa-miR-941	CLASH	23622248
MIRT036135	hsa-miR-1296-5p	CLASH	23622248
MIRT052747	hsa-miR-1260b	CLASH	23622248
MIRT1037585	hsa-miR-1207-3p	CLIP-seq
MIRT1037586	hsa-miR-1226	CLIP-seq
MIRT1037587	hsa-miR-125a-3p	CLIP-seq
MIRT1037588	hsa-miR-1275	CLIP-seq
MIRT1037589	hsa-miR-1293	CLIP-seq
MIRT1037590	hsa-miR-1910	CLIP-seq
MIRT1037591	hsa-miR-2276	CLIP-seq
MIRT1037592	hsa-miR-2861	CLIP-seq
MIRT1037593	hsa-miR-2964a-5p	CLIP-seq
MIRT1037594	hsa-miR-3126-5p	CLIP-seq
MIRT1037595	hsa-miR-3148	CLIP-seq
MIRT1037596	hsa-miR-3176	CLIP-seq
MIRT1037597	hsa-miR-3184	CLIP-seq
MIRT1037598	hsa-miR-3194-5p	CLIP-seq
MIRT1037599	hsa-miR-326	CLIP-seq
MIRT1037600	hsa-miR-330-5p	CLIP-seq
MIRT1037601	hsa-miR-3915	CLIP-seq
MIRT1037602	hsa-miR-3922-3p	CLIP-seq
MIRT1037603	hsa-miR-3928	CLIP-seq
MIRT1037604	hsa-miR-3929	CLIP-seq
MIRT1037605	hsa-miR-423-5p	CLIP-seq
MIRT1037606	hsa-miR-4271	CLIP-seq
MIRT1037607	hsa-miR-4419b	CLIP-seq
MIRT1037608	hsa-miR-4425	CLIP-seq
MIRT1037609	hsa-miR-4457	CLIP-seq
MIRT1037610	hsa-miR-4462	CLIP-seq
MIRT1037611	hsa-miR-4478	CLIP-seq
MIRT1037612	hsa-miR-4483	CLIP-seq
MIRT1037613	hsa-miR-4493	CLIP-seq
MIRT1037614	hsa-miR-450b-3p	CLIP-seq
MIRT1037615	hsa-miR-4525	CLIP-seq
MIRT1037616	hsa-miR-455-3p	CLIP-seq
MIRT1037617	hsa-miR-4665-5p	CLIP-seq
MIRT1037618	hsa-miR-4690-3p	CLIP-seq
MIRT1037619	hsa-miR-4708-3p	CLIP-seq
MIRT1037620	hsa-miR-4722-3p	CLIP-seq
MIRT1037621	hsa-miR-4723-5p	CLIP-seq
MIRT1037622	hsa-miR-4725-3p	CLIP-seq
MIRT1037623	hsa-miR-4731-5p	CLIP-seq
MIRT1037624	hsa-miR-4733-3p	CLIP-seq
MIRT1037625	hsa-miR-4747-5p	CLIP-seq
MIRT1037626	hsa-miR-4755-3p	CLIP-seq
MIRT1037627	hsa-miR-4763-5p	CLIP-seq
MIRT1037628	hsa-miR-513b	CLIP-seq
MIRT1037629	hsa-miR-542-5p	CLIP-seq
MIRT1037630	hsa-miR-572	CLIP-seq
MIRT1037631	hsa-miR-579	CLIP-seq
MIRT1037632	hsa-miR-625	CLIP-seq
MIRT1037633	hsa-miR-637	CLIP-seq
MIRT1037634	hsa-miR-658	CLIP-seq
MIRT1037635	hsa-miR-769-3p	CLIP-seq
MIRT1037636	hsa-miR-876-3p	CLIP-seq
MIRT1037637	hsa-miR-939	CLIP-seq
MIRT2007551	hsa-miR-1225-3p	CLIP-seq
MIRT1037588	hsa-miR-1275	CLIP-seq
MIRT2007552	hsa-miR-145	CLIP-seq
MIRT2007553	hsa-miR-1908	CLIP-seq
MIRT1037590	hsa-miR-1910	CLIP-seq
MIRT2007554	hsa-miR-3124-3p	CLIP-seq
MIRT2007555	hsa-miR-3180-5p	CLIP-seq
MIRT2007556	hsa-miR-4470	CLIP-seq
MIRT1037615	hsa-miR-4525	CLIP-seq
MIRT1037616	hsa-miR-455-3p	CLIP-seq
MIRT1037617	hsa-miR-4665-5p	CLIP-seq
MIRT2007557	hsa-miR-4712-5p	CLIP-seq
MIRT1037620	hsa-miR-4722-3p	CLIP-seq
MIRT1037621	hsa-miR-4723-5p	CLIP-seq
MIRT2007558	hsa-miR-4749-3p	CLIP-seq
MIRT2007559	hsa-miR-520a-5p	CLIP-seq
MIRT2007560	hsa-miR-525-5p	CLIP-seq
MIRT1037629	hsa-miR-542-5p	CLIP-seq
MIRT1037632	hsa-miR-625	CLIP-seq
MIRT1037633	hsa-miR-637	CLIP-seq
MIRT2007561	hsa-miR-661	CLIP-seq
MIRT2007562	hsa-miR-663	CLIP-seq
MIRT2007563	hsa-miR-744	CLIP-seq
MIRT2007564	hsa-miR-770-5p	CLIP-seq
MIRT1037637	hsa-miR-939	CLIP-seq
MIRT1037586	hsa-miR-1226	CLIP-seq
MIRT2240196	hsa-miR-1912	CLIP-seq
MIRT2240197	hsa-miR-29a	CLIP-seq
MIRT2240198	hsa-miR-29b	CLIP-seq
MIRT2240199	hsa-miR-29c	CLIP-seq
MIRT1037624	hsa-miR-4733-3p	CLIP-seq
MIRT2240200	hsa-miR-516b	CLIP-seq
MIRT2543829	hsa-miR-1	CLIP-seq
MIRT1037585	hsa-miR-1207-3p	CLIP-seq
MIRT2543830	hsa-miR-1273f	CLIP-seq
MIRT2543831	hsa-miR-1285	CLIP-seq
MIRT1037589	hsa-miR-1293	CLIP-seq
MIRT2543832	hsa-miR-1294	CLIP-seq
MIRT2543833	hsa-miR-1299	CLIP-seq
MIRT2007553	hsa-miR-1908	CLIP-seq
MIRT1037590	hsa-miR-1910	CLIP-seq
MIRT2543834	hsa-miR-206	CLIP-seq
MIRT2543835	hsa-miR-3187-5p	CLIP-seq
MIRT1037598	hsa-miR-3194-5p	CLIP-seq
MIRT1037599	hsa-miR-326	CLIP-seq
MIRT1037600	hsa-miR-330-5p	CLIP-seq
MIRT2543836	hsa-miR-3673	CLIP-seq
MIRT1037604	hsa-miR-3929	CLIP-seq
MIRT2543837	hsa-miR-4316	CLIP-seq
MIRT1037607	hsa-miR-4419b	CLIP-seq
MIRT1037609	hsa-miR-4457	CLIP-seq
MIRT1037610	hsa-miR-4462	CLIP-seq
MIRT2007556	hsa-miR-4470	CLIP-seq
MIRT1037611	hsa-miR-4478	CLIP-seq
MIRT1037612	hsa-miR-4483	CLIP-seq
MIRT1037616	hsa-miR-455-3p	CLIP-seq
MIRT2543838	hsa-miR-4683	CLIP-seq
MIRT1037618	hsa-miR-4690-3p	CLIP-seq
MIRT1037620	hsa-miR-4722-3p	CLIP-seq
MIRT1037623	hsa-miR-4731-5p	CLIP-seq
MIRT2543839	hsa-miR-4768-3p	CLIP-seq
MIRT1037628	hsa-miR-513b	CLIP-seq
MIRT2240200	hsa-miR-516b	CLIP-seq
MIRT1037630	hsa-miR-572	CLIP-seq
MIRT2543840	hsa-miR-612	CLIP-seq
MIRT2543841	hsa-miR-613	CLIP-seq
MIRT2007562	hsa-miR-663	CLIP-seq
MIRT2543842	hsa-miR-665	CLIP-seq
MIRT2007563	hsa-miR-744	CLIP-seq
MIRT2543843	hsa-miR-875-3p	CLIP-seq
MIRT1037636	hsa-miR-876-3p	CLIP-seq
MIRT2543829	hsa-miR-1	CLIP-seq
MIRT2543830	hsa-miR-1273f	CLIP-seq
MIRT2543831	hsa-miR-1285	CLIP-seq
MIRT1037589	hsa-miR-1293	CLIP-seq
MIRT2543832	hsa-miR-1294	CLIP-seq
MIRT2543833	hsa-miR-1299	CLIP-seq
MIRT2007553	hsa-miR-1908	CLIP-seq
MIRT2543834	hsa-miR-206	CLIP-seq
MIRT2543835	hsa-miR-3187-5p	CLIP-seq
MIRT1037599	hsa-miR-326	CLIP-seq
MIRT1037600	hsa-miR-330-5p	CLIP-seq
MIRT2543836	hsa-miR-3673	CLIP-seq
MIRT1037604	hsa-miR-3929	CLIP-seq
MIRT2543837	hsa-miR-4316	CLIP-seq
MIRT1037607	hsa-miR-4419b	CLIP-seq
MIRT1037609	hsa-miR-4457	CLIP-seq
MIRT2007556	hsa-miR-4470	CLIP-seq
MIRT1037611	hsa-miR-4478	CLIP-seq
MIRT1037612	hsa-miR-4483	CLIP-seq
MIRT2543838	hsa-miR-4683	CLIP-seq
MIRT1037620	hsa-miR-4722-3p	CLIP-seq
MIRT2543839	hsa-miR-4768-3p	CLIP-seq
MIRT1037628	hsa-miR-513b	CLIP-seq
MIRT1037630	hsa-miR-572	CLIP-seq
MIRT2543840	hsa-miR-612	CLIP-seq
MIRT2543841	hsa-miR-613	CLIP-seq
MIRT2007562	hsa-miR-663	CLIP-seq
MIRT2543842	hsa-miR-665	CLIP-seq
MIRT2007563	hsa-miR-744	CLIP-seq
MIRT2543843	hsa-miR-875-3p	CLIP-seq
MIRT1037636	hsa-miR-876-3p	CLIP-seq

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Transcription factor	Regulation	Reference
NFIC	Unknown	11118217

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000127	Component	Transcription factor TFIIIC complex	IBA
GO:0000127	Component	Transcription factor TFIIIC complex	IDA	17409385
GO:0000127	Component	Transcription factor TFIIIC complex	IEA
GO:0000995	Function	RNA polymerase III general transcription initiation factor activity	IDA	17409385
GO:0003677	Function	DNA binding	IC	17409385
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17409385, 18377933, 19299493, 20543138, 25416956, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0006383	Process	Transcription by RNA polymerase III	IC	17409385
GO:0006384	Process	Transcription initiation at RNA polymerase III promoter	IBA
GO:0006384	Process	Transcription initiation at RNA polymerase III promoter	IEA
GO:0009303	Process	RRNA transcription	TAS	8164661
GO:0009304	Process	TRNA transcription	TAS	8164661
GO:0016020	Component	Membrane	HDA	19946888
GO:0042791	Process	5S class rRNA transcription by RNA polymerase III	IBA
GO:0042791	Process	5S class rRNA transcription by RNA polymerase III	IC	17409385
GO:0042797	Process	TRNA transcription by RNA polymerase III	IC	17409385
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
603246	4664	ENSG00000077235

Q12789

Protein name

General transcription factor 3C polypeptide 1 (TF3C-alpha) (TFIIIC box B-binding subunit) (Transcription factor IIIC 220 kDa subunit) (TFIIIC 220 kDa subunit) (TFIIIC220) (Transcription factor IIIC subunit alpha)

Protein function

Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. Binds to the box B prom

PDB

8CLI , 8CLJ , 8CLK , 8CLL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04182	B-block_TFIIIC	174 → 250	B-block binding subunit of TFIIIC	Family

Sequence

MDALESLLDEVALEGLDGLCLPALWSRLETRVPPFPLPLEPCTQEFLWRALATHPGISFY
EEPRERPDLQLQDRYEEIDLETGILESRRDPVALEDVYPIHMILENKDGIQGSCRYFKER
KNITNDIRTKSLQPRCTMVEAFDRWGKKLIIVASQAMRYRALIGQEGDPDLKLPDFSYCI
LERLGRSRWQGELQRDLHTTAFKVDAGKLHYHRKILNKNGLITMQSHVIRLPTGAQQHSI
LLLLNRFHVDRRSKYDILMEKLSVMLSTRTNHIETLGKLREELGLCERTFKRLYQYMLNA
GLAKVVSLRLQEIHPECGPCKTKKGTDVMVRCLKLLKEFKRNDHDDDEDEEVISKTVPPV
DIVFERDMLTQTYDLIERRGTKGISQAEIRVAMNVGKLEARMLCRLLQRFKVVKGFMEDE
GRQRTTKYISCVFAEESDLSRQYQREKARSELLTTVSLASMQEESLLPEGEDTFLSESDS
EEERSSSKRRGRGSQKDTRASANLRPKTQPHHSTPTKGGWKVVNLHPLKKQPPSFPGAAE
ERACQSLASRDSLLDTSSVSEPNVSFVSHCADSNSGDIAVIEEVRMENPKESSSSLKTGR
HSSGQDKPHETYRLLKRRNLIIEAVTNLRLIESLFTIQKMIMDQEKQEGVSTKCCKKSIV
RLVRNLSEEGLLRLYRTTVIQDGIKKKVDLVVHPSMDQNDPLVRSAIEQVRFRISNSSTA
NRVKTSQPPVPQGEAEEDSQGKEGPSGSGDSQLSASSRSESGRMKKSDNKMGITPLRNYH
PIVVPGLGRSLGFLPKMPRLRVVHMFLWYLIYGHPASNTVEKPSFISERRTIKQESGRAG
VRPSSSGSAWEACSEAPSKGSQDGVTWEAEVELATETVYVDDASWMRYIPPIPVHRDFGF
GWALVSDILLCLPLSIFIQIVQVSYKVDNLEEFLNDPLKKHTLIRFLPRPIRQQLLYKRR
YIFSVVENLQRLCYMGLLQFGPTEKFQDKDQVFIFLKKNAVIVDTTICDPHYNLARSSRP
FERRLYVLNSMQDVENYWFDLQCVCLNTPLGVVRCPRVRKNSSTDQGSDEEGSLQKEQES
AMDKHNLERKCAMLEYTTGSREVVDEGLIPGDGLGAAGLDSSFYGHLKRNWIWTSYIINQ
AKKENTAAENGLTVRLQTFLSKRPMPLSARGNSRLNIWGEARVGSELCAGWEEQFEVDRE
PSLDRNRRVRGGKSQKRKRLKKDPGKKIKRKKKGEFPGEKSKRLRYHDEADQSALQRMTR
LRVTWSMQEDGLLVLCRIASNVLNTKVKGPFVTWQVVRDILHATFEESLDKTSHSVGRRA
RYIVKNPQAYLNYKVCLAEVYQDKALVGDFMNRRGDYDDPKVCANEFKEFVEKLKEKFSS
ALRNSNLEIPDTLQELFARYRVLAIGDEKDQTRKEDELNSVDDIHFLVLQNLIQSTLALS
DSQMKSYQSFQTFRLYREYKDHVLVKAFMECQKRSLVNRRRVNHTLGPKKNRALPFVPMS
YQLSQTYYRIFTWRFPSTICTESFQFLDRMRAAGKLDQPDRFSFKDQDNNEPTNDMVAFS
LDGPGGNCVAVLTLFSLGLISVDVRIPEQIIVVDSSMVENEVIKSLGKDGSLEDDEDEED
DLDEGVGGKRRSMEVKPAQASHTNYLLMRGYYSPGIVSTRNLNPNDSIVVNSCQMKFQLR
CTPVPARLRPAAAPLEELTMGTSCLPDTFTKLINPQENTCSLEEFVLQLELSGYSPEDLT
AALEILEAIIATGCFGIDKEELRRRFSALEKAGGGRTRTFADCIQALLEQHQVLEVGGNT
ARLVAMGSAWPWLLHSVRLKDREDADIQREDPQARPLEGSSSEDSPPEGQAPPSHSPRGT
KRRASWASENGETDAEGTQMTPAKRPALQDSNLAPSLGPGAEDGAEAQAPSPPPALEDTA
AAGAAQEDQEGVGEFSSPGQEQLSGQAQPPEGSEDPRGFTESFGAANISQAARERDCESV
CFIGRPWRVVDGHLNLPVCKGMMEAMLYHIMTRPGIPESSLLRHYQGVLQPVAVLELLQG
LESLGCIRKRWLRKPRPVSLFSTPVVEEVEVPSSLDESPMAFYEPTLDCTLRLGRVFPHE
VNWNKWIHL

Sequence length

2109

Interactions

View interactions

	Reactome
			RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499746	RCV000454278	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs750159671	RCV001172292	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20843307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GTF3C1 (general transcription factor IIIC subunit 1)