ELP1 (elongator acetyltransferase complex subunit 1)

2017-05-01  

Identity

HGNC
ELP1
LOCATION
9q31.3
LOCUSID
8518
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
388298542024Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.0
388298542024Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.0
322961802020Germline Elongator mutations in Sonic Hedgehog medulloblastoma.60
322961802020Germline Elongator mutations in Sonic Hedgehog medulloblastoma.60
300858482019Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.7
309053972019ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.17
309897322019Potentially 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
300858482019Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.7
309053972019ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.17
309897322019Potentially 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
292898402018Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.1
297017682018Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.25
297626962018Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.9
292898402018Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.1
297017682018Exon-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/haematological-explorer/css/haematological-explorer