ELP1 elongator acetyltransferase complex subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELP1provided by HGNC
Official Full Name: elongator acetyltransferase complex subunit 1provided by HGNC
Primary source: HGNC:HGNC:5959
See related: Ensembl:ENSG00000070061 MIM:603722; AllianceGenome:HGNC:5959
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FD; DYS; IKAP; IKI3; TOT1; IKBKAP
Summary: The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Expression: Ubiquitous expression in adrenal (RPKM 22.4), ovary (RPKM 14.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q31.3

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (108867517..108934124, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (121036644..121103197, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (111629797..111696404, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis.
Title: ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis.
Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.
Title: Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.
Tumours from patients with ELP1-associated medulloblastoma subgroup Sonic Hedgehog were characterized by a destabilized Elongator complex, loss of Elongator-dependent tRNA modifications, codon-dependent translational reprogramming
Title: Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
A secondary assay that measures ELP1 splicing in FD patient-derived fibroblasts.
Title: Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.
postnatal correction of the underlying ELP1 splicing defect can rescue devastating disease phenotypes in a humanized ELP1 mouse model
Title: ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
The authors identified two potentially functional single nucleotide polymorphisms (IKBKAP rs4978754 C > T and TNFRSF1B rs677844 T > C) to be associated with survival of patients with non-small cell lung cancer.
Title: 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.
Data indicate that heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) is a negative regulator of IKK-complex-associated protein (IKBKAP) exon 20 splicing.
Title: Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
The founder mutation in the IKBKAP gene affects the development of vestibular afferent pathways, leading to attenuated cVEMPs.
Title: Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.
This splice-switching class of molecules is the first to specifically correct the ELP1 exon 20 splicing defect. Our data provide proof of principle of ExSpeU1s-adeno-associated virus particles as a novel therapeutic strategy for FD.
Title: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
overexpression of miR-203a-3p leads to a decrease of NOVA1, counter-balanced by an increase of IKAP, supporting a potential interaction between NOVA1 and IKAP.
Title: MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial dysautonomia MedGen: C0013364 OMIM: 223900 GeneReviews: Familial Dysautonomia	Compare labs
Medulloblastoma MedGen: C0025149 OMIM: 155255 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-111681 (e-PCR)
- UniSTS:168479

WI-14914 (e-PCR)
- UniSTS:21545

D9S1646 (e-PCR)
- UniSTS:153664

STS-N27516 (e-PCR)
- UniSTS:25921

SHGC-77920 (e-PCR)
- UniSTS:170070

IKBKAP_749 (e-PCR)
- UniSTS:277360

IKBKAP_V101 (e-PCR)
- UniSTS:277360

D9S2068 (e-PCR)
- UniSTS:28282

WI-16073 (e-PCR)
- UniSTS:50895

D9S1055E (e-PCR)
- UniSTS:151272

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in regulation of translation	NAS Non-traceable Author Statement more info	PubMed
involved_in tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA wobble uridine modification	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
part_of elongator holoenzyme complex	IBA Inferred from Biological aspect of Ancestor more info
part_of elongator holoenzyme complex	IDA Inferred from Direct Assay more info	PubMed
part_of elongator holoenzyme complex	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: elongator complex protein 1

Names: IKK complex-associated protein; ikappaB kinase complex-associated protein; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.