Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8518
MIM: 603722
HGNC: 5959
Ensembl: ENSG00000070061
Variants:
dbSNP: 8518
ClinVar: 8518
TCGA: ENSG00000070061
COSMIC: ELP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000070061 | ENST00000374647 | O95163 |
| ENSG00000070061 | ENST00000495759 | H0YDF3 |
| ENSG00000070061 | ENST00000537196 | F5H2T0 |
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| HATs acetylate histones | REACTOME | R-HSA-3214847 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38829854 | 2024 | Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure. | 0 |
| 38829854 | 2024 | Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure. | 0 |
| 32296180 | 2020 | Germline Elongator mutations in Sonic Hedgehog medulloblastoma. | 60 |
| 32296180 | 2020 | Germline Elongator mutations in Sonic Hedgehog medulloblastoma. | 60 |
| 30085848 | 2019 | Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia. | 7 |
| 30905397 | 2019 | ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. | 17 |
| 30989732 | 2019 | Potentially functional genetic variants in the TNF/TNFR signaling pathway genes predict survival of patients with non-small cell lung cancer in the PLCO cancer screening trial. | 9 |
| 30085848 | 2019 | Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia. | 7 |
| 30905397 | 2019 | ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. | 17 |
| 30989732 | 2019 | Potentially functional genetic variants in the TNF/TNFR signaling pathway genes predict survival of patients with non-small cell lung cancer in the PLCO cancer screening trial. | 9 |
| 29289840 | 2018 | Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. | 1 |
| 29701768 | 2018 | Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model. | 25 |
| 29762696 | 2018 | Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells. | 9 |
| 29289840 | 2018 | Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. | 1 |
| 29701768 | 2018 | Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model. | 25 |
Citation
Dessen P
ELP1 (elongator acetyltransferase complex subunit 1)
Atlas Genet Cytogenet Oncol Haematol. 2017-05-01
Online version: http://atlasgeneticsoncology.org/gene/56907
