ELP2
entrez
55250
canonical
uniprot
Q6IA86
canonical
ensembl
ENSG00000134759
resolver
ensp
ENSP00000257191
resolver
ensp
ENSP00000316051
resolver
ensp
ENSP00000350967
resolver
ensp
ENSP00000391202
resolver
ensp
ENSP00000414851
resolver
ensp
ENSP00000443800
resolver
ensp
ENSP00000537863
resolver
ensp
ENSP00000537868
resolver
ensp
ENSP00000537871
resolver
ensp
ENSP00000686097
resolver
genesymbol
ELP2
resolver
genesymbol_syn
STATIP1
resolver
hgnc
HGNC:18248
resolver
uniprot
A8KAI6
resolver
uniprot
B4DTG0
resolver
uniprot
B4DXP0
resolver
uniprot
E7EP23
resolver
uniprot
E9PCX0
resolver
uniprot
Q53GZ0
resolver
uniprot
Q687Y8
resolver
uniprot
Q8N5C2
resolver
uniprot
Q96GV4
resolver
uniprot
Q96PI7
resolver
uniprot
Q9H9N0
resolver
uniprot
Q9NV81
resolver
uniprot_entry
ELP2_HUMAN
resolver
uniprot_sec
A8KAI6
resolver
uniprot_sec
B4DTG0
resolver
uniprot_sec
B4DXP0
resolver
uniprot_sec
E7EP23
resolver
uniprot_sec
E9PCX0
resolver
uniprot_sec
Q53GZ0
resolver
uniprot_sec
Q687Y8
resolver
uniprot_sec
Q8N5C2
resolver
uniprot_sec
Q96GV4
resolver
uniprot_sec
Q96PI7
resolver
uniprot_sec
Q9H9N0
resolver
uniprot_sec
Q9NV81
resolver
amino_acid_sequence
MVAPVLETSHVFCCPNRVRGVLNWSSGPRGLLAFGTSCSVVLYDPLKRVVVTNLNGHTARVNCIQWICKQDGSPSTELVSGGSDNQVIHWEIEDNQLLKAVHLQGHEGPVYAVHAVYQRRTSDPALCTLIVSAAADSAVRLWSKKGPEVMCLQTLNFGNGFALALCLSFLPNTDVPILACGNDDCRIHIFAQQNDQFQKVLSLCGHEDWIRGVEWAAFGRDLFLASCSQDCLIRIWKLYIKSTSLETQDDDNIRLKENTFTIENESVKIAFAVTLETVLAGHENWVNAVHWQPVFYKDGVLQQPVRLLSASMDKTMILWAPDEESGVWLEQVRVGEVGGNTLGFYDCQFNEDGSMIIAHAFHGALHLWKQNTVNPREWTPEIVISGHFDGVQDLVWDPEGEFIITVGTDQTTRLFAPWKRKDQSQVTWHEIARPQIHGYDLKCLAMINRFQFVSGADEKVLRVFSAPRNFVENFCAITGQSLNHVLCNQDSDLPEGATVPALGLSNKAVFQGDIASQPSDEEELLTSTGFEYQQVAFQPSILTEPPTEDHLLQNTLWPEVQKLYGHGYEIFCVTCNSSKTLLASACKAAKKEHAAIILWNTTSWKQVQNLVFHSLTVTQMAFSPNEKFLLAVSRDRTWSLWKKQDTISPEFEPVFSLFAFTNKITSVHSRIIWSCDWSPDSKYFFTGSRDKKVVVWGECDSTDDCIEHNIGPCSSVLDVGGAVTAVSVCPVLHPSQRYVVAVGLECGKICLYTWKKTDQVPEINDWTHCVETSQSQSHTLAIRKLCWKNCSGKTEQKEAEGAEWLHFASCGEDHTVKIHRVNKCAL
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 58 (MRT58) [MIM:617270]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT58 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:25847581}. Note=The disease is caused by variants affecting the gene represented in this entry.
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
92500
uniprot
proteins
mutagenesis
MUTAGEN 1..17; /note="Missing: Abolishes interaction with ELP1 and ELP3."; /evidence="ECO:0000269|PubMed:25960406"; MUTAGEN 634; /note="R->A: No effect on interaction with ELP1 or ELP3; when associated with A-636, A-670 and A-689."; /evidence="ECO:0000269|PubMed:25960406"; MUTAGEN 636; /note="R->A: No effect on interaction with ELP1 or ELP3; when associated with A-634, A-670 and A-689."; /evidence="ECO:0000269|PubMed:25960406"; MUTAGEN 670; /note="R->A: No effect on interaction with ELP1 or ELP3; when associated with A-634, A-636 and A-689."; /evidence="ECO:0000269|PubMed:25960406"; MUTAGEN 689; /note="R->A: No effect on interaction with ELP1 or ELP3; when associated with A-634, A-636 and A-670."; /evidence="ECO:0000269|PubMed:25960406
uniprot
proteins
pathway_participation
PATHWAY: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis. {ECO:0000303|PubMed:29332244}.
uniprot
proteins
protein_family
WD repeat ELP2 family
uniprot
proteins
pubmed
11714725
uniprot
proteins
pubmed
11818576
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
22854966
uniprot
proteins
pubmed
25847581
uniprot
proteins
pubmed
25960406
uniprot
proteins
pubmed
29332244
uniprot
proteins
sequence_length
826
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576}. Nucleus {ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576}.
uniprot
proteins