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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ELP6
elongator acetyltransferase complex subunit 6
Chromosome 3 Β· 3p21.31
NCBI Gene: 54859Ensembl: ENSG00000163832.16HGNC: HGNC:25976UniProt: C9IYN7
39PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleuscytosolelongator holoenzyme complexCrohn's diseaseneurodegenerative diseasecervical carcinomainflammatory bowel disease
✦AI Summary

ELP6 is a structural subunit of the Elongator complex, a highly conserved multiprotein assembly essential for multiple cellular functions 1. As part of the accessory Elp456 subcomplex, ELP6 acts as a bridge protein assembling Elp4 and Elp5 2 and contributes to the complex's ATP-modulated tRNA binding activity 3. ELP6 is required for Elongator-mediated tRNA modifications, including mcm5U, mcm5s2U, and ncm5U at the wobble position 34 3, which regulate translation efficiency 4. The complex regulates transcriptional elongation through histone acetylation and coordinates multiple biological processes including cell migration and tumorigenicity 5. Clinically, ELP6 variants associate with neurodevelopmental disorders. Patient-derived ELP6 mutations impair tRNA modification activity in vitro and in cells, causing developmental delay, epilepsy, intellectual disability, and motor dysfunction 6. The Elp456 subcomplex shows functional divergence from the catalytic Elp123 subcomplex, affecting specific tRNA species and cell types during neurodevelopment 6. ELP6 is broadly expressed in developing and mature granulocytes and monocytes 7, supporting its role in hematopoietic development and immune function.

Sources cited
1
Elongator complex highly conserved with six subunits; Elp456 is an accessory subcomplex with distinct roles in neuronal development
PMID: 36448458
2
ELP6 is part of Elp4/5/6 subcomplex with ATP-modulated tRNA binding activity; Elongator catalyzes tRNA modifications including mcm5U, mcm5s2U, and ncm5U
PMID: 29332244
3
ELP6 acts as a bridge protein assembling Elp4 and Elp5 in the Elp4-6 subcomplex; forms ring-shaped structure important for substrate binding
PMID: 22556426
4
Elongator catalyzes tRNA anticodon loop modification regulating mRNA decoding efficiency; human Elongator assembled from two subcomplexes
PMID: 35128251
5
ELP6 depletion decreases melanoma cell migration and tumorigenicity; ELP6 is essential for Elongator function
PMID: 22854966
6
ELP6 variants in patients cause developmental delay, epilepsy, intellectual disability, and motor dysfunction; mutations reduce Elongator tRNA modification activity
PMID: 35698786
7
ELP6 is expressed intracellularly in developing and mature granulocytes and monocytes
PMID: 24284306
Disease Associationsβ“˜20
Crohn's diseaseOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.30Weak
cervical carcinomaOpen Targets
0.27Weak
inflammatory bowel diseaseOpen Targets
0.23Weak
ulcerative colitisOpen Targets
0.12Weak
smoking initiationOpen Targets
0.10Suggestive
melanomaOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.05Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.03Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
cutaneous melanomaOpen Targets
0.01Suggestive
microcephalyOpen Targets
0.01Suggestive
viral diseaseOpen Targets
0.01Suggestive
Global developmental delayOpen Targets
0.01Suggestive
angle-closure glaucomaOpen Targets
0.00Suggestive
AtaxiaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
Reunion Island's Larsen syndromeOpen Targets
0.00Suggestive
schwannomaOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_001031703.3(ELP6):c.353T>G (p.Leu118Trp)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†2022β†’ Residue 118
View on ClinVar β†—
Related Genes
ELP1Protein interaction87%PIPOXProtein interaction84%ABCA5Protein interaction81%ELP5Protein interaction80%ELP4Protein interaction78%ABCA7Protein interaction76%
Tissue Expression6 tissues
Liver
100%
Ovary
93%
Heart
82%
Brain
76%
Bone Marrow
66%
Lung
57%
Gene Interaction Network
Click a node to explore
ELP6ELP1PIPOXABCA5ELP5ELP4ABCA7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q0PNE2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.57–1.20]
RankingsWhere ELP6 stands among ~20K protein-coding genes
  • #10,315of 20,598
    Most Researched39
  • #5,179of 5,498
    Most Pathogenic Variants1
  • #12,655of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedELP6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Elongator and the role of its subcomplexes in human diseases.
PMID: 36448458
EMBO Mol Med Β· 2023
1.00
2
Structural insights into the function of Elongator.
PMID: 29332244
Cell Mol Life Sci Β· 2018
0.90
3
DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator.
PMID: 22854966
J Biol Chem Β· 2012
0.80
4
Functional divergence of the two Elongator subcomplexes during neurodevelopment.
PMID: 35698786
EMBO Mol Med Β· 2022
0.70
5
Biochemical and Structural Characterization of Human Core Elongator and Its Subassemblies.
PMID: 35128251
ACS Omega Β· 2022
0.60