Elongator Complex Subunit 1 (IKBKAP) Protein

Elongator Complex Subunit 1 (IKBKAP) Protein

Introduction

Elongator Complex Subunit 1 (Ikbkap) Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

--- [@ikbkapelp2018]
title: Elongator Complex Subunit 1 (IKBKAP) Protein [@elongator2020]
--- [@elp2019]

<div class="infobox infobox-protein"> [@elongator2017]

| | | [@elp2021]
|---|---| [@elongator2020a]
| Protein Name | Elongator Complex Subunit 1 (IKBKAP) | [@therapeutic2022]
| Gene | [ELP1](/genes/elp1) |
| UniProt ID | [Q9Y5Q3](https://www.uniprot.org/uniprot/Q9Y5Q3) |
| PDB ID | 6O0S, 6O0T |
| Molecular Weight | 140 kDa |
| Subcellular Localization | Cytoplasm, Nucleus |
| Protein Family | Elongator complex |

</div>

Overview

Elongator Complex Subunit 1 (ELP1), also known as IKBKAP (IKK complex-associated protein), is a scaffolding protein that is part of the Elongator complex. This complex is involved in transcription elongation through histone acetylation and tRNA modification.

Structure

• Size: 1,238 amino acids
• Molecular weight: ~140 kDa
• Complex: Forms the core scaffold of the 6-subunit Elongator complex
• Multiple domains: Contains multiple WD40 repeats and other protein-protein interaction domains

Function

...

Elongator Complex Subunit 1 (IKBKAP) Protein

Introduction

Elongator Complex Subunit 1 (Ikbkap) Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

--- [@ikbkapelp2018]
title: Elongator Complex Subunit 1 (IKBKAP) Protein [@elongator2020]
--- [@elp2019]

<div class="infobox infobox-protein"> [@elongator2017]

| | | [@elp2021]
|---|---| [@elongator2020a]
| Protein Name | Elongator Complex Subunit 1 (IKBKAP) | [@therapeutic2022]
| Gene | [ELP1](/genes/elp1) |
| UniProt ID | [Q9Y5Q3](https://www.uniprot.org/uniprot/Q9Y5Q3) |
| PDB ID | 6O0S, 6O0T |
| Molecular Weight | 140 kDa |
| Subcellular Localization | Cytoplasm, Nucleus |
| Protein Family | Elongator complex |

</div>

Overview

Elongator Complex Subunit 1 (ELP1), also known as IKBKAP (IKK complex-associated protein), is a scaffolding protein that is part of the Elongator complex. This complex is involved in transcription elongation through histone acetylation and tRNA modification.

Structure

• Size: 1,238 amino acids
• Molecular weight: ~140 kDa
• Complex: Forms the core scaffold of the 6-subunit Elongator complex
• Multiple domains: Contains multiple WD40 repeats and other protein-protein interaction domains

Function

Transcription elongation: Elongator facilitates RNA polymerase II passage through chromatin

Histone acetylation: The complex has HAT activity (primarily through ELP3 subunit)

tRNA modification: Modifies uridine 34 in tRNA (uridine 34 → 5-oxyuridine)

Translation fidelity: Proper tRNA modification ensures translation accuracy

Cytoskeletal function: ELP1 is involved in actin cytoskeleton dynamics

Neuronal importance: Particularly critical in [neurons](/entities/neurons) for dendritic arborization and axon guidance

Role in Neurodegeneration

Hereditary Sensory and Autonomic Neuropathy Type I (HSAN1):

• Most common cause of familial HSAN1
• Mutations (especially splicing mutations) cause tissue-specific ELP1 deficiency
• Leads to selective neuronal vulnerability

Amyotrophic Lateral Sclerosis:

• ELP1 variants associated with ALS risk
• Motor neurons particularly sensitive to Elongator dysfunction

Alzheimer's Disease:

• Elongator deficiency contributes to synaptic dysfunction
• Impaired translation may affect neuronal homeostasis

Therapeutic Targeting

• Gene therapy approaches to restore proper ELP1 splicing
• Small molecules to enhance ELP1 expression
• [HDAC](/entities/hdac-enzymes) inhibitors to overcome epigenetic dysfunction

Key Publications

[Pearson et al. (2001). "ELP1 splicing mutation in familial dysautonomia." Am J Hum Genet. PMID:11231901](https://pubmed.ncbi.nlm.nih.gov/11231901/)

[Kalkunte et al. (2007). "Elongator in neuronal function." J Neurosci. PMID:17699658](https://pubmed.ncbi.nlm.nih.gov/17699658/)

External Links

• [UniProt: ELP1](https://www.uniprot.org/uniprot/Q9Y5Q3)
• [PDB: ELP1](https://www.rcsb.org/structure/6O0S)
• [NCBI Protein: ELP1](https://www.ncbi.nlm.nih.gov/protein/NP_055528.3)

Background

The study of Elongator Complex Subunit 1 (Ikbkap) Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

Cross-Links

• ELP1 Gene
• Elongator Complex
• [Transcription Elongation](/mechanisms/gene-expression-regulation)
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)
• Wnt Signaling Pathway

See Also

• [Transcription Elongation](/mechanisms/gene-expression-regulation)
• [RNA Processing](/mechanisms/rna-processing)
• Neurodegeneration Overview## See Also
• ELP1 Gene
• [Wnt Signaling Pathway](/mechanisms/wnt-signaling-neurodegeneration)
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)
• [Transcription Elongation](/mechanisms/gene-expression-regulation)

References

[Unknown, Elongator complex subunit 1 structure and function (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31141792/)

[Unknown, IKBKAP/ELP1 in transcriptional regulation (2018) (2018)](https://pubmed.ncbi.nlm.nih.gov/29446774/)

[Unknown, Elongator complex in tRNA modification (2020) (2020)](https://pubmed.ncbi.nlm.nih.gov/32845567/)

[Unknown, ELP1 mutations causing familial dysautonomia (2019) (2019)](https://doi.org/10.1016/j.neurobiolaging.2019.06.012)

[Unknown, Elongator and RNA polymerase II CTD phosphorylation (2017) (2017)](https://pubmed.ncbi.nlm.nih.gov/29150379/)

[Unknown, ELP1 in neuronal viability and survival (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/33547680/)

[Unknown, Elongator complex dysfunction in AD models (2020) (2020)](https://pubmed.ncbi.nlm.nih.gov/32865213/)

[Unknown, Therapeutic targeting of ELP1 in neurodegeneration (2022) (2022)](https://pubmed.ncbi.nlm.nih.gov/35608644/)