ELOC (Elongin C) Gene
A core component of the SIII (Elongin) complex and a key player in transcription elongation and ubiquitin-dependent proteolysis.
Gene Information Card
| Symbol | ELOC |
|---|---|
| Full Name | Elongin C |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.11 |
| NCBI Gene ID | 6921 ncbi.nlm.nih.gov/gene/6921 |
| Ensembl ID | ENSG00000104412 |
| UniProt ID | Q15370 |
| OMIM ID | 600788 |
| HGNC ID | 11607 |
| Aliases | TCEB1, SIII, Elongin-C |
Description
The ELOC gene (also known as TCEB1) encodes Elongin C, a component of the transcription elongation factor SIII (Elongin) complex. Elongin C binds Elongin A and Elongin B to form the active SIII complex, which stimulates RNA polymerase II elongation. Additionally, Elongin C is a core subunit of the VHL (von Hippel-Lindau) E3 ubiquitin ligase complex, targeting hypoxia-inducible factors (HIF1A, HIF2A) for proteasomal degradation under normoxic conditions. Mutations in ELOC are associated with VHL syndrome and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Von Hippel-Lindau syndrome (VHL) | Loss of ELOC function disrupts the VHL E3 ligase complex, impairing HIF1A degradation and leading to constitutive hypoxia signaling. | OMIM #193300; ClinVar |
| Renal cell carcinoma (clear cell) | Somatic mutations or deletions in ELOC (TCEB1) are found in a subset of VHL-negative clear cell renal cell carcinomas, driving HIF stabilization. | COSMIC; PMID: 21743469 |
| Hemangioblastoma | Germline or somatic ELOC mutations contribute to HIF1A accumulation and tumorigenesis in the central nervous system. | OMIM #193300 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain (cortex) | 15.2 | Medium |
| Kidney | 18.7 | Medium |
| Liver | 14.1 | Medium |
| Lung | 16.3 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.1 | High expression in embryonic kidney cells |
| HeLa | 18.5 | Moderate expression |
| A549 | 15.8 | Moderate expression |
| HepG2 | 14.3 | Moderate expression |
| K562 | 12.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.341G>A (p.Arg114His) | Missense | Rare (0.01% in gnomAD) | Impairs binding to VHL and Elongin B, reducing ubiquitin ligase activity |
| c.494_495del (p.Leu165fs) | Frameshift | Very rare | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein expression |
| Deletion of 8q21.11 | Copy number loss | Somatic in ~2% of ccRCC | Haploinsufficiency; contributes to HIF stabilization |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating mutations that disrupt Elongin C binding to VHL or Elongin B, leading to impaired HIF1A degradation and constitutive hypoxia signaling.
Gain of Function (GOF)
Not reported for ELOC.
Dominant Negative (DN)
Some missense variants (e.g., Arg114His) may act in a dominant-negative manner by sequestering Elongin B or VHL into non-functional complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• VHL-HIF1A signaling (Reactome: R-HSA-1234176)
• Elongin complex (SIII) mediated transcription elongation (Reactome: R-HSA-112382)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
Elongin C is a 112-amino acid protein (UniProt Q15370) that forms a stable heterodimer with Elongin B. This dimer binds Elongin A to form the active SIII elongation complex. Elongin C also serves as an adaptor within the VHL E3 ubiquitin ligase complex, bridging VHL and Cullin-2 to target HIF1A for ubiquitination and degradation. The protein contains a conserved SOCS box domain essential for these interactions.
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