ELP3
entrez
55140
canonical
uniprot
Q9H9T3
canonical
ensembl
ENSG00000134014
resolver
ensp
ENSP00000256398
resolver
ensp
ENSP00000428449
resolver
ensp
ENSP00000429180
resolver
ensp
ENSP00000445558
resolver
enst
ENST00000524103
resolver
genesymbol
ELP3
resolver
hgnc
HGNC:20696
resolver
uniprot
B4DE19
resolver
uniprot
B4DIG1
resolver
uniprot
B4DKA4
resolver
uniprot
B4DXV1
resolver
uniprot
E2QRI5
resolver
uniprot
F6VRU8
resolver
uniprot
Q53G84
resolver
uniprot
Q6AWB0
resolver
uniprot
Q9BVF7
resolver
uniprot
Q9NVZ1
resolver
uniprot_entry
B4DKA4_HUMAN
resolver
uniprot_entry
B4DXV1_HUMAN
resolver
uniprot_entry
ELP3_HUMAN
resolver
uniprot_entry
F6VRU8_HUMAN
resolver
uniprot_sec
B4DE19
resolver
uniprot_sec
B4DIG1
resolver
uniprot_sec
E2QRI5
resolver
uniprot_sec
Q53G84
resolver
uniprot_sec
Q6AWB0
resolver
uniprot_sec
Q9BVF7
resolver
uniprot_sec
Q9NVZ1
resolver
amino_acid_sequence
MRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQVELVRRDYVANGGWETFLSYEDPDQDILIGLLRLRKCSEETFRFELGGGVSIVRELHVYGSVVPVSSRDPTKFQHQGFGMLLMEEAERIAREEHGSGKIAVISGVGTRNYYRKIGYRLQGPYMVKMLK
uniprot
proteins
disease_involvement
DISEASE: Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:18996918, ECO:0000305|PubMed:29415125}. Note=The gene represented in this entry may act as a disease modifier.
uniprot
proteins
ec_number
2.3.1.311
uniprot
proteins
function
FUNCTION: Catalytic tRNA acetyltransferase subunit of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29415125). In the elongator complex, acts as a tRNA uridine(34) acetyltransferase by mediating formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (By similarity). May also act as a protein lysine acetyltransferase by mediating acetylation of target proteins; such activity is however unclear in vivo and recent evidence suggests that ELP3 primarily acts as a tRNA acetyltransferase (PubMed:29415125). Not a major acetyltransferase of tubulin (PubMed:22153374). Involved in neurogenesis: regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (PubMed:19185337). Required for acetylation of GJA1 in the developing cerebral cortex (By similarity). {ECO:0000250|UniProtKB:D5VRB9, ECO:0000250|UniProtKB:Q9CZX0, ECO:0000269|PubMed:19185337, ECO:0000269|PubMed:22153374, ECO:0000269|PubMed:29415125}.
uniprot
proteins
mass_dalton
62259
uniprot
proteins
mutagenesis
MUTAGEN 202; /note="Y->E,F: Substantial reduction in tyrosine phosphorylation."; /evidence="ECO:0000269|PubMed:31341009"; MUTAGEN 207; /note="Y->F: No effect on tyrosine phosphorylation."; /evidence="ECO:0000269|PubMed:31341009"; MUTAGEN 251; /note="Y->F: Small reduction in tyrosine phosphorylation."; /evidence="ECO:0000269|PubMed:31341009"; MUTAGEN 318; /note="Y->F: No effect on tyrosine phosphorylation."; /evidence="ECO:0000269|PubMed:31341009"; MUTAGEN 329; /note="Y->F: No effect on tyrosine phosphorylation."; /evidence="ECO:0000269|PubMed:31341009"; MUTAGEN 427; /note="Y->F: No effect on tyrosine phosphorylation."; /evidence="ECO:0000269|PubMed:31341009
uniprot
proteins
pathway_participation
PATHWAY: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis. {ECO:0000269|PubMed:29415125}.
uniprot
proteins
post_translational_modification
PTM: Tyrosine-phosphorylated; phosphorylation on Tyr-202 does not affect elongator complex integrity or ELP3 protein stability (PubMed:31341009). Also serine/threonine-phosphorylated (PubMed:31341009). {ECO:0000269|PubMed:31341009}.
uniprot
proteins
protein_family
ELP3 family
uniprot
proteins
pubmed
11714725
uniprot
proteins
pubmed
11818576
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
15902492
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16713582
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18996918
uniprot
proteins
pubmed
19185337
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22002106
uniprot
proteins
pubmed
22153374
uniprot
proteins
pubmed
22854966
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
25960406
uniprot
proteins
pubmed
29332244
uniprot
proteins
pubmed
29415125
uniprot
proteins
pubmed
31341009
uniprot
proteins
sequence_length
547
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11818576, ECO:0000269|PubMed:19185337, ECO:0000269|PubMed:22854966}. Nucleus {ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576, ECO:0000269|PubMed:22854966}.; SUBCELLULAR LOCATION: [Isoform 1]: Nucleus {ECO:0000269|PubMed:22002106}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:22002106}. Nucleus {ECO:0000269|PubMed:22002106}.
uniprot
proteins