EEF1D
entrez
1936
canonical
uniprot
P29692
canonical
ensembl
ENSG00000104529
resolver
ensembl
ENSG00000273594
resolver
ensp
ENSP00000317399
resolver
ensp
ENSP00000378551
resolver
ensp
ENSP00000388261
resolver
ensp
ENSP00000391944
resolver
ensp
ENSP00000431460
resolver
ensp
ENSP00000431763
resolver
ensp
ENSP00000434872
resolver
ensp
ENSP00000436507
resolver
ensp
ENSP00000484536
resolver
ensp
ENSP00000541883
resolver
ensp
ENSP00000642321
resolver
ensp
ENSP00000642378
resolver
ensp
ENSP00000642385
resolver
ensp
ENSP00000642386
resolver
ensp
ENSP00000642387
resolver
ensp
ENSP00000675813
resolver
ensp
ENSP00000684555
resolver
ensp
ENSP00000684575
resolver
genesymbol
EEF1D
resolver
genesymbol_syn
EF1D
resolver
hgnc
HGNC:3211
resolver
uniprot
B2RAR6
resolver
uniprot
B4DDU4
resolver
uniprot
D3DWK3
resolver
uniprot
E9PBQ9
resolver
uniprot
Q4VBZ6
resolver
uniprot
Q969J1
resolver
uniprot
Q96I38
resolver
uniprot_entry
B2RAR6_HUMAN
resolver
uniprot_entry
EF1D_HUMAN
resolver
uniprot_sec
B4DDU4
resolver
uniprot_sec
D3DWK3
resolver
uniprot_sec
E9PBQ9
resolver
uniprot_sec
Q4VBZ6
resolver
uniprot_sec
Q969J1
resolver
uniprot_sec
Q96I38
resolver
amino_acid_sequence
MATNFLAHEKIWFDKFKYDDAERRFYEQMNGPVAGASRQENGASVILRDIARARENIQKSLAGSSGPGASSGTSGDHGELVVRIASLEVENQSLRGVVQELQQAISKLEARLNVLEKSSPGHRATAPQTQHVSPMRQVEPPAKKPATPAEDDEDDDIDLFGSDNEEEDKEAAQLREERLRQYAEKKAKKPALVAKSSILLDVKPWDDETDMAQLEACVRSIQLDGLVWGASKLVPVGYGIRKLQIQCVVEDDKVGTDLLEEEITKFEEHVQSVDIAAFNKI
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language (NEDTCHAL) [MIM:621150]: An autosomal recessive disorder characterized by severe developmental delay with intellectual disability and absent language, microcephaly, and spasticity in addition to thin corpus callosum and hypotonia. Other features include failure to thrive, poor feeding, and optic atrophy. {ECO:0000269|PubMed:28097321, ECO:0000269|PubMed:30787422, ECO:0000269|PubMed:36576126, ECO:0000269|PubMed:38083972}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: [Isoform 1]: EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP, regenerating EF-1-alpha for another round of transfer of aminoacyl-tRNAs to the ribosome.; FUNCTION: [Isoform 2]: Regulates induction of heat-shock-responsive genes through association with heat shock transcription factors and direct DNA-binding at heat shock promoter elements (HSE).
uniprot
proteins
mass_dalton
31122
uniprot
proteins
protein_family
EF-1-beta/EF-1-delta family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16807684
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17487921
uniprot
proteins
pubmed
17693683
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21597468
uniprot
proteins
pubmed
21936567
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28097321
uniprot
proteins
pubmed
30787422
uniprot
proteins
pubmed
36576126
uniprot
proteins
pubmed
38083972
uniprot
proteins
pubmed
8168075
uniprot
proteins
pubmed
8334168
uniprot
proteins
pubmed
9610721
uniprot
proteins
pubmed
9677419
uniprot
proteins
sequence_length
281
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 2]: Nucleus {ECO:0000269|PubMed:21597468}.
uniprot
proteins