GTF3C3
General transcription factor 3C polypeptide 3
Also known as: TF3C3_HUMAN, TFIIIC102, TFiiiC2-102
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5Q9
- Gene
- GTF3C3
- Ensembl
- ENSG00000119041
- Chromosome
- 2
- Canonical length
- 886 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Nuclear membrane,Nucleoli fibrillar center
OverviewNCBI Gene
The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Canonical amino-acid sequenceUniProt
886 residues, UniProt reviewed canonical sequence.
>Q9Y5Q9|GTF3C3
1 MSGFSPELID YLEGKISFEE FERRREERKT REKKSLQEKG KLSAEENPDD SEVPSSSGIN
61 STKSQDKDVN EGETSDGVRK SVHKVFASML GENEDDEEEE EEEEEEEEEE ETPEQPTAGD
121 VFVLEMVLNR ETKKMMKEKR PRSKLPRALR GLMGEANIRF ARGEREEAIL MCMEIIRQAP
181 LAYEPFSTLA MIYEDQGDME KSLQFELIAA HLNPSDTEEW VRLAEMSLEQ DNIKQAIFCY
241 TKALKYEPTN VRYLWERSSL YEQMGDHKMA MDGYRRILNL LSPSDGERFM QLARDMAKSY
301 YEANDVTSAI NIIDEAFSKH QGLVSMEDVN IAAELYISNK QYDKALEIIT DFSGIVLEKK
361 TSEEGTSEEN KAPENVTCTI PDGVPIDITV KLMVCLVHLN ILEPLNPLLT TLVEQNPEDM
421 GDLYLDVAEA FLDVGEYNSA LPLLSALVCS ERYNLAVVWL RHAECLKALG YMERAAESYG
481 KVVDLAPLHL DARISLSTLQ QQLGQPEKAL EALEPMYDPD TLAQDANAAQ QELKLLLHRS
541 TLLFSQGKMY GYVDTLLTML AMLLKVAMNR AQVCLISSSK SGERHLYLIK VSRDKISDSN
601 DQESANCDAK AIFAVLTSVL TKDDWWNLLL KAIYSLCDLS RFQEAELLVD SSLEYYSFYD
661 DRQKRKELEY FGLSAAILDK NFRKAYNYIR IMVMENVNKP QLWNIFNQVT MHSQDVRHHR
721 FCLRLMLKNP ENHALCVLNG HNAFVSGSFK HALGQYVQAF RTHPDEPLYS FCIGLTFIHM
781 ASQKYVLRRH ALIVQGFSFL NRYLSLRGPC QESFYNLGRG LHQLGLIHLA IHYYQKALEL
841 PPLVVEGIEL DQLDLRRDIA YNLSLIYQSS GNTGMAQTLL YTYCSILocalizationUniProt · AlphaFold · HPA
Whether an antibody against GTF3C3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 29 nTPM
- lymph node: 17 nTPM
- retina: 16 nTPM
- skin: 16 nTPM
- gallbladder: 16 nTPM
- breast: 14 nTPM
Single-cell type
- early primary spermatocytes: 56 nCPM
- corticotrophs: 52 nCPM
- thyrotrophs: 49 nCPM
- adrenal cortex cells: 47 nCPM
- erythrocyte progenitors: 46 nCPM
- choroid plexus epithelial cells: 46 nCPM
Immune cell
- basophil: 8.9 nTPM
- naive B-cell: 6.3 nTPM
- non-classical monocyte: 5.6 nTPM
- memory B-cell: 4.9 nTPM
- NK-cell: 4.6 nTPM
- classical monocyte: 4.5 nTPM
Brain region
- white matter: 54 nTPM
- choroid plexus: 48 nTPM
- pons: 46 nTPM
- cerebellum: 46 nTPM
- cerebral cortex: 40 nTPM
- hypothalamus: 37 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GTF3C3.
Disease | AllUniProt
Conditions GTF3C3 is implicated in, by any mechanism.
- Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures (NEDFBS) MIM:621201
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 124 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures
- Chromosome 2q32-q33 deletion syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.59
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.57
- DepMap mean gene effect
- -0.69
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- 5S class rRNA transcription by RNA polymerase III
- transcription by RNA polymerase III
- tRNA transcription by RNA polymerase III
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Tetratricopeptide-like helical domain superfamily
- Tetratricopeptide repeat
- Tetratricopeptide repeat
- Transcription factor Tfc4/TFIIIC-102/Sfc4
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GTF3C3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GTF3C3 as an antibody target. Whether an autoantibody or antibody against GTF3C3 could matter depends on whether native GTF3C3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GTF3C3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GTF3C3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...