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

    Gene ID: 9328, updated on 27-Nov-2024

    Summary

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    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

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    See GTF3C5 in Genome Data Viewer
    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_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:135895195-135895887 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 5 Neighboring gene small nucleolar RNA, C/D box 141A Neighboring gene uncharacterized LOC105376306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:135906049-135906700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20441 Neighboring gene microRNA 6877 Neighboring gene uncharacterized LOC124902325 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135935579-135936330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135936331-135937083 Neighboring gene carboxyl ester lipase Neighboring gene carboxyl ester lipase pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder. Iwata-Otsubo A, et al. Hum Genet, 2024 Mar. PMID 38520561
    2. Cloning and characterization of a TFIIIC2 subunit (TFIIIC beta) whose presence correlates with activation of RNA polymerase III-mediated transcription by adenovirus E1A expression and serum factors. Sinn E, et al. Genes Dev, 1995 Mar 15. PMID 7729686
    3. Different functional modes of p300 in activation of RNA polymerase III transcription from chromatin templates. Mertens C, et al. Mol Cell Biol, 2008 Sep. PMID 18644873, Free PMC Article
    4. The dynamic mechanism of 4E-BP1 recognition and phosphorylation by mTORC1. Böhm R, et al. Mol Cell, 2021 Jun 3. PMID 33852892
    5. Cloning and characterization of two evolutionarily conserved subunits (TFIIIC102 and TFIIIC63) of human TFIIIC and their involvement in functional interactions with TFIIIB and RNA polymerase III. Hsieh YJ, et al. Mol Cell Biol, 1999 Jul. PMID 10373544, Free PMC Article

    See all (120) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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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

    Homology

    Clone Names

    • FLJ20857

    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)

    1. 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

    2. 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

    3. 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

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      133030708..133058503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      Q5T7U1

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

      UniProtKB/TrEMBL
      Q5T7U1

    3. XM_047424081.1 → XP_047280037.1  general transcription factor 3C polypeptide 5 isoform X2

    4. XM_047424080.1 → XP_047280036.1  general transcription factor 3C polypeptide 5 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145244842..145272659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364176.1 → XP_054220151.1  general transcription factor 3C polypeptide 5 isoform X3

    2. XM_054364177.1 → XP_054220152.1  general transcription factor 3C polypeptide 5 isoform X4

    3. XM_054364175.1 → XP_054220150.1  general transcription factor 3C polypeptide 5 isoform X2

    4. XM_054364174.1 → XP_054220149.1  general transcription factor 3C polypeptide 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5Q8.2 GenPept UniProtKB/Swiss-Prot:Q9Y5Q8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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