GenTIGS

Elongator acetyltransferase complex subunit 1 (ELP1) Associated conditions: 1. Familial dysautonomia

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001318360.2	NP_001305289.1	NC_000009.12	(108867516..108934123, complement)	Reference GRCh38.p14 Primary Assembly	Q8N516
2	REVIEWED	NM_001330749.2	NP_001317678.1	NC_000009.12	(108867516..108934123, complement)	Reference GRCh38.p14 Primary Assembly	Q8N516
3	REVIEWED	NM_003640.5	NP_003631.2	NC_000009.12	(108867516..108934123, complement)	Reference GRCh38.p14 Primary Assembly	Q8N516

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1156 reference articles

Variant Information Elongator acetyltransferase complex subunit 1 (ELP1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Elongator acetyltransferase complex subunit 1 (ELP1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Elongator acetyltransferase complex subunit 1 (ELP1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	tRNA binding	Function	21873635
2	Homo sapiens	NAS	involved_in	tRNA wobble uridine modification	Process	27847465
3	Homo sapiens	IBA	involved_in	tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	Process	21873635
4	Homo sapiens	IPI	enables	protein binding	Function	11714725 15383276 19185337 21903422 22854966
5	Homo sapiens	IEA	located_in	nucleus	Component	-
6	Homo sapiens	IDA	located_in	cytoplasm	Component	11714725 22854966
7	Homo sapiens	IBA	is_active_in	cytosol	Component	21873635
8	Homo sapiens	IDA	located_in	cytosol	Component	-
9	Homo sapiens	NAS	involved_in	regulation of translation	Process	22854966
10	Homo sapiens	IBA	part_of	elongator holoenzyme complex	Component	21873635
11	Homo sapiens	IDA	part_of	elongator holoenzyme complex	Component	22854966 26261306
12	Homo sapiens	IPI	part_of	elongator holoenzyme complex	Component	22854966
13	Homo sapiens	IDA	enables	protein self-association	Function	26261306