ELP4
entrez
26610
canonical
uniprot
Q96EB1
canonical
ensembl
ENSG00000109911
resolver
ensp
ENSP00000368461
resolver
ensp
ENSP00000379267
resolver
ensp
ENSP00000492152
resolver
enst
ENST00000395934
resolver
genesymbol
ELP4
resolver
genesymbol_syn
C11orf19
resolver
genesymbol_syn
PAXNEB
resolver
hgnc
HGNC:1171
resolver
uniprot
B4E3W0
resolver
uniprot
E7EPZ6
resolver
uniprot
G5E9D4
resolver
uniprot
Q9H4E8
resolver
uniprot
Q9NX11
resolver
uniprot_entry
ELP4_HUMAN
resolver
uniprot_entry
G5E9D4_HUMAN
resolver
uniprot_sec
B4E3W0
resolver
uniprot_sec
E7EPZ6
resolver
uniprot_sec
Q9H4E8
resolver
uniprot_sec
Q9NX11
resolver
amino_acid_sequence
MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLGGGLAVGTVLLIEEDKYNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKIAWRYQLLPKMEIGPVSSSRFGHYYDASKRMPQELIEASNWHGFFLPEKISSTLKVEPCSLTPGYTKLLQFIQNIIYEEGFDGSNPQKKQRNILRIGIQNLGSPLWGDDICCAENGGNSHSLTKFLYVLRGLLRTSLSACIITMPTHLIQNKAIIARVTTLSDVVVGLESFIGSERETNPLYKDYHGLIHIRQIPRLNNLICDESDVKDLAFKLKRKLFTIERLHLPPDLSDTVSRSSKMDLAESAKRLGPGCGMMAGGKKHLDF
uniprot
proteins
disease_involvement
DISEASE: Aniridia 2 (AN2) [MIM:617141]: A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269|PubMed:24290376}. Note=The disease is caused by variants affecting the gene represented in this entry. A disease-causing mutation is located in intron 9 of ELP4. The mutation does not alter normal ELP4 expression and function, but disrupts a long-range cis-regulatory element of PAX6 expression, known as SIMO. SIMO is contained within ELP4 intron 9 and located 150 kb downstream of PAX6. {ECO:0000269|PubMed:24290376}.
uniprot
proteins
function
FUNCTION: Component 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:29332244). The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). {ECO:0000303|PubMed:29332244}.
uniprot
proteins
mass_dalton
46588
uniprot
proteins
pathway_participation
PATHWAY: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis. {ECO:0000303|PubMed:29332244}.
uniprot
proteins
protein_family
ELP4 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11714725
uniprot
proteins
pubmed
11818576
uniprot
proteins
pubmed
11889558
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16713582
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22854966
uniprot
proteins
pubmed
24290376
uniprot
proteins
pubmed
29332244
uniprot
proteins
sequence_length
424
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11818576, ECO:0000269|PubMed:11889558, ECO:0000269|PubMed:22854966}. Nucleus {ECO:0000269|PubMed:11889558}.
uniprot
proteins