ELP1 (elongator acetyltransferase complex subunit 1)

2017-05-01  

Identity

HGNC
LOCATION
9q31.3
LOCUSID
ALIAS
DYS,FD,IKAP,IKBKAP,IKI3,TOT1

Other Information

Locus ID:

NCBI: 8518
MIM: 603722
HGNC: 5959
Ensembl: ENSG00000070061

Variants:

dbSNP: 8518
ClinVar: 8518
TCGA: ENSG00000070061
COSMIC: ELP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070061ENST00000374647O95163
ENSG00000070061ENST00000495759H0YDF3
ENSG00000070061ENST00000537196F5H2T0

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
167135822006Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia.84
190152352009Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.54
183030542008IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration.52
125772002003Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.48
196517022009Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.41
120580262002A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.40
192476922009Analyses of associations with asthma in four asthma population samples from Canada and Australia.39
210984052010Afferent baroreflex failure in familial dysautonomia.34

Citation

Dessen P

ELP1 (elongator acetyltransferase complex subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-05-01

Online version: http://atlasgeneticsoncology.org/gene/56907/elp1