EEFSEC
entrez
60678
canonical
uniprot
P57772
canonical
ensembl
ENSG00000132394
resolver
ensembl
ENSG00000284869
resolver
ensp
ENSP00000254730
resolver
ensp
ENSP00000417660
resolver
ensp
ENSP00000495578
resolver
ensp
ENSP00000538165
resolver
ensp
ENSP00000538166
resolver
ensp
ENSP00000538168
resolver
ensp
ENSP00000668362
resolver
ensp
ENSP00000791918
resolver
ensp
ENSP00000791919
resolver
ensp
ENSP00000791920
resolver
enst
ENST00000483457
resolver
enst
ENST00000644955
resolver
genesymbol
EEFSEC
resolver
genesymbol_syn
SELB
resolver
hgnc
HGNC:24614
resolver
uniprot
C9J8T0
resolver
uniprot
Q96HZ6
resolver
uniprot_entry
C9J8T0_HUMAN
resolver
uniprot_entry
SELB_HUMAN
resolver
uniprot_sec
Q96HZ6
resolver
amino_acid_sequence
MAGRRVNVNVGVLGHIDSGKTALARALSTTASTAAFDKQPQSRERGITLDLGFSCFSVPLPARLRSSLPEFQAAPEAEPEPGEPLLQVTLVDCPGHASLIRTIIGGAQIIDLMMLVIDVTKGMQTQSAECLVIGQIACQKLVVVLNKIDLLPEGKRQAAIDKMTKKMQKTLENTKFRGAPIIPVAAKPGGPEAPETEAPQGIPELIELLTSQISIPTRDPSGPFLMSVDHCFSIKGQGTVMTGTILSGSISLGDSVEIPALKVVKKVKSMQMFHMPITSAMQGDRLGICVTQFDPKLLERGLVCAPESLHTVHAALISVEKIPYFRGPLQTKAKFHITVGHETVMGRLMFFSPAPDNFDQEPILDSFNFSQEYLFQEQYLSKDLTPAVTDNDEADKKAGQATEGHCPRQQWALVEFEKPVTCPRLCLVIGSRLDADIHTNTCRLAFHGILLHGLEDRNYADSFLPRLKVYKLKHKHGLVERAMDDYSVIGRSLFKKETNIQLFVGLKVHLSTGELGIIDSAFGQSGKFKIHIPGGLSPESKKILTPALKKRARAGRGEATRQEESAERSEPSQHVVLSLTFKRYVFDTHKRMVQSP
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with progressive spasticity and brain abnormalities (NEDPSB) [MIM:621102]: An autosomal recessive disorder with onset in infancy or early childhood, and characterized by global developmental delay with intellectual disability, poor or absent speech, progressive spasticity, ataxia, and seizures. Brain imaging primarily shows cerebral and/or cerebellar hypoplasia with delayed myelination, and progressive cerebellar atrophy in about half of patients. {ECO:0000269|PubMed:39753114}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: Translation factor required for the incorporation of the rare amino acid selenocysteine encoded by UGA codons (PubMed:27708257, PubMed:35709277). Replaces the eRF1-eRF3-GTP ternary complex for the insertion of selenocysteine directed by the UGA codon (PubMed:27708257, PubMed:35709277). Insertion of selenocysteine at UGA codons is mediated by SECISBP2 and EEFSEC: SECISBP2 (1) specifically binds the SECIS sequence once the 80S ribosome encounters an in-frame UGA codon and (2) contacts the RPS27A/eS31 of the 40S ribosome before ribosome stalling (PubMed:35709277). (3) GTP-bound EEFSEC then delivers selenocysteinyl-tRNA(Sec) to the 80S ribosome and adopts a preaccommodated state conformation (PubMed:35709277). (4) After GTP hydrolysis, EEFSEC dissociates from the assembly, selenocysteinyl-tRNA(Sec) accommodates, and peptide bond synthesis and selenoprotein elongation occur (PubMed:35709277). {ECO:0000269|PubMed:27708257, ECO:0000269|PubMed:35709277}.
uniprot
proteins
mass_dalton
65305
uniprot
proteins
mutagenesis
MUTAGEN 96; /note="H->A: Abolished GTPase activity."; /evidence="ECO:0000269|PubMed:35709277"; MUTAGEN 229; /note="D->A: Abolished ability to mediate insertion of selenocysteine."; /evidence="ECO:0000269|PubMed:27708257"; MUTAGEN 230; /note="H->A: Abolished ability to mediate insertion of selenocysteine."; /evidence="ECO:0000269|PubMed:27708257"; MUTAGEN 285; /note="R->A: Abolished ability to mediate insertion of selenocysteine."; /evidence="ECO:0000269|PubMed:27708257"; MUTAGEN 285; /note="R->N: Abolished ability to mediate insertion of selenocysteine."; /evidence="ECO:0000269|PubMed:27708257"; MUTAGEN 583..584; /note="RY->AA: Does not affect ability to mediate insertion of selenocysteine."; /evidence="ECO:0000269|PubMed:27708257
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
SelB subfamily
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
10970870
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27708257
uniprot
proteins
pubmed
35709277
uniprot
proteins
pubmed
39753114
uniprot
proteins
sequence_length
596
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus {ECO:0000305}.
uniprot
proteins