GTF3C5 general transcription factor IIIC subunit 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GTF3C5provided by HGNC
Official Full Name: general transcription factor IIIC subunit 5provided by HGNC
Primary source: HGNC:HGNC:4668
See related: Ensembl:ENSG00000148308 MIM:604890; AllianceGenome:HGNC:4668
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TFIIIC63; TFiiiC2-63; TFIIICepsilon
Summary: Enables RNA polymerase III general transcription initiation factor activity. Predicted to be involved in 5S class rRNA transcription by RNA polymerase III and tRNA transcription by RNA polymerase III. Predicted to act upstream of or within skeletal muscle cell differentiation. Located in nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary (RPKM 17.0), testis (RPKM 11.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (133030708..133058503)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145244842..145272659)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (135906384..135933890)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Title: Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the transcription by RNA polymerase III of co-transfected or endogenous cellular Alu-repeated sequences by activating transcription factor TFIIIC	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16015 (e-PCR)
- UniSTS:23122

G11785 (e-PCR)
- UniSTS:26460

D9S982E (e-PCR)
- UniSTS:151230

RH65689 (e-PCR)
- UniSTS:22984

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to DNA binding	IC Inferred by Curator more info	PubMed
enables RNA polymerase III general transcription initiation factor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to RNA polymerase III type 1 promoter sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to RNA polymerase III type 2 promoter sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 5S class rRNA transcription by RNA polymerase III	IC Inferred by Curator more info	PubMed
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in tRNA transcription by RNA polymerase III	IC Inferred by Curator more info	PubMed
involved_in transcription by RNA polymerase III	IC Inferred by Curator more info	PubMed
involved_in transcription initiation at RNA polymerase III promoter	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of transcription factor TFIIIC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIIIC complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: general transcription factor 3C polypeptide 5

Names: TF3C-epsilon; TFIIIC 63 kDa subunit; general transcription factor IIIC, polypeptide 5, 63kDa; transcription factor IIIC 63 kDa subunit; transcription factor IIIC subunit epsilon; transcription factor IIIC, 63 kD

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001122823.2 → NP_001116295.1 general transcription factor 3C polypeptide 5 isoform 1

See identical proteins and their annotated locations for NP_001116295.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AJ420443, DB194811

Consensus CDS

CCDS48050.1

UniProtKB/TrEMBL

Q5T7U1

Related

ENSP00000361180.5, ENST00000372108.9

Conserved Domains (1) summary

pfam09734
Location:24 → 322

Tau95; RNA polymerase III transcription factor (TF)IIIC subunit
NM_001286709.2 → NP_001273638.1 general transcription factor 3C polypeptide 5 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate exons in the 5' region, which results in translation initiation from an alternate start codon, and it lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AL162417, BC017337, BQ673969, DB194811

Consensus CDS

CCDS75927.1

UniProtKB/TrEMBL

H7BY84

Related

ENSP00000361171.7, ENST00000372099.10

Conserved Domains (1) summary

pfam09734
Location:25 → 148

Tau95; RNA polymerase III transcription factor (TF)IIIC subunit
NM_012087.4 → NP_036219.2 general transcription factor 3C polypeptide 5 isoform 2

See identical proteins and their annotated locations for NP_036219.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.

Source sequence(s)

AJ420443, AK055092

Consensus CDS

CCDS6958.1

UniProtKB/Swiss-Prot

A6NI44, A6NJB9, Q5T7U2, Q5T7U3, Q8N2U7, Q8N857, Q96GD9, Q9H4P2, Q9Y5Q8

UniProtKB/TrEMBL

Q5T7U1

Related

ENSP00000361169.5, ENST00000372097.10

Conserved Domains (1) summary

pfam09734
Location:24 → 322

Tau95; RNA polymerase III transcription factor (TF)IIIC subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

133030708..133058503

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017015315.2 → XP_016870804.1 general transcription factor 3C polypeptide 5 isoform X3

UniProtKB/TrEMBL

Q5T7U1
XM_017015316.2 → XP_016870805.1 general transcription factor 3C polypeptide 5 isoform X4

UniProtKB/TrEMBL

Q5T7U1
XM_047424081.1 → XP_047280037.1 general transcription factor 3C polypeptide 5 isoform X2
XM_047424080.1 → XP_047280036.1 general transcription factor 3C polypeptide 5 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

145244842..145272659

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364176.1 → XP_054220151.1 general transcription factor 3C polypeptide 5 isoform X3
XM_054364177.1 → XP_054220152.1 general transcription factor 3C polypeptide 5 isoform X4
XM_054364175.1 → XP_054220150.1 general transcription factor 3C polypeptide 5 isoform X2
XM_054364174.1 → XP_054220149.1 general transcription factor 3C polypeptide 5 isoform X1