ELP1
entrez
8518
canonical
uniprot
O95163
canonical
ensembl
ENSG00000070061
resolver
ensp
ENSP00000363779
resolver
ensp
ENSP00000439367
resolver
ensp
ENSP00000501602
resolver
ensp
ENSP00000501893
resolver
ensp
ENSP00000502427
resolver
ensp
ENSP00000502640
resolver
ensp
ENSP00000531163
resolver
ensp
ENSP00000603756
resolver
enst
ENST00000374647
resolver
enst
ENST00000537196
resolver
enst
ENST00000674938
resolver
enst
ENST00000674948
resolver
enst
ENST00000675406
resolver
enst
ENST00000675765
resolver
enst
ENST00000861104
resolver
enst
ENST00000933697
resolver
genesymbol
ELP1
resolver
genesymbol
IKBKAP
resolver
genesymbol_syn
IKAP
resolver
genesymbol_syn
IKBKAP
resolver
hgnc
HGNC:5959
resolver
uniprot
A0A6Q8PGW3
resolver
uniprot
A0A6Q8PHA0
resolver
uniprot
B3KNB2
resolver
uniprot
B4E3I9
resolver
uniprot
F5H2T0
resolver
uniprot
Q5JSV2
resolver
uniprot
Q8N516
resolver
uniprot
Q9H327
resolver
uniprot
Q9UG87
resolver
uniprot_entry
A0A6Q8PGW3_HUMAN
resolver
uniprot_entry
A0A6Q8PHA0_HUMAN
resolver
uniprot_entry
B3KNB2_HUMAN
resolver
uniprot_entry
B4E3I9_HUMAN
resolver
uniprot_entry
ELP1_HUMAN
resolver
uniprot_entry
F5H2T0_HUMAN
resolver
uniprot_entry
Q8N516_HUMAN
resolver
uniprot_sec
Q5JSV2
resolver
uniprot_sec
Q9H327
resolver
uniprot_sec
Q9UG87
resolver
amino_acid_sequence
MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSLLD
uniprot
proteins
disease_involvement
DISEASE: Dysautonomia, familial (FD) [MIM:223900]: An autosomal recessive neurodegenerative disorder characterized by depletion of sensory, sympathetic, and some parasympathetic neurons. Patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, recurrent pneumonias, cardiovascular instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction. The disorder is fatal, with only half of the patients reaching 40 years of age. {ECO:0000269|PubMed:11179008, ECO:0000269|PubMed:11179021, ECO:0000269|PubMed:12687659}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269|PubMed:32296180}. Note=Disease susceptibility is associated with 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). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity). ELP1 binds to tRNA, mediating interaction of the elongator complex with tRNA (By similarity). May act as a scaffold protein that assembles active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK) (PubMed:9751059). {ECO:0000250|UniProtKB:Q06706, ECO:0000250|UniProtKB:Q7TT37, ECO:0000269|PubMed:9751059, ECO:0000303|PubMed:29332244}.
uniprot
proteins
mass_dalton
150254
uniprot
proteins
mutagenesis
MUTAGEN 1011; /note="R->A: Disruption of dimer formation, reduced protein stability and reduced interaction with ELP2 and ELP3. Does not affect binding to tRNA."; /evidence="ECO:0000269|PubMed:26261306
uniprot
proteins
pathway_participation
PATHWAY: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis. {ECO:0000303|PubMed:29332244}.
uniprot
proteins
protein_family
ELP1/IKA1 family
uniprot
proteins
pubmed
11179008
uniprot
proteins
pubmed
11179021
uniprot
proteins
pubmed
11714725
uniprot
proteins
pubmed
11818576
uniprot
proteins
pubmed
12687659
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22854966
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25960406
uniprot
proteins
pubmed
26261306
uniprot
proteins
pubmed
29332244
uniprot
proteins
pubmed
32296180
uniprot
proteins
pubmed
9751059
uniprot
proteins
sequence_length
1332
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576, ECO:0000269|PubMed:22854966}. Nucleus {ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576}.
uniprot
proteins