EFL1
entrez
79631
canonical
uniprot
Q7Z2Z2
canonical
ensembl
ENSG00000140598
resolver
ensp
ENSP00000268206
resolver
ensp
ENSP00000352418
resolver
ensp
ENSP00000512563
resolver
ensp
ENSP00000512564
resolver
genesymbol
EFL1
resolver
genesymbol_syn
EFTUD1
resolver
genesymbol_syn
FAM42A
resolver
hgnc
HGNC:25789
resolver
uniprot
A6NKY5
resolver
uniprot
B7Z6I0
resolver
uniprot
Q9H8Z6
resolver
uniprot_entry
EFL1_HUMAN
resolver
uniprot_sec
A6NKY5
resolver
uniprot_sec
B7Z6I0
resolver
uniprot_sec
Q9H8Z6
resolver
activity_regulation
ACTIVITY REGULATION: GTPase activity is stimulated in the presence of 60S ribosome subunits. {ECO:0000269|PubMed:21536732}.
uniprot
proteins
amino_acid_sequence
MVLNSLDKMIQLQKNTANIRNICVLAHVDHGKTTLADCLISSNGIISSRLAGKLRYMDSREDEQIRGITMKSSAISLHYATGNEEYLINLIDSPGHVDFSSEVSTAVRICDGCIIVVDAVEGVCPQTQAVLRQAWLENIRPVLVINKIDRLIVELKFTPQEAYSHLKNILEQINALTGTLFTSKVLEERAERETESQVNPNSEQGEQVYDWSTGLEDTDDSHLYFSPEQGNVVFTSAIDGWGFGIEHFARIYSQKIGIKKEVLMKTLWGDYYINMKAKKIMKGDQAKGKKPLFVQLILENIWSLYDAVLKKDKDKIDKIVTSLGLKIGAREARHSDPKVQINAICSQWLPISHAVLAMVCQKLPSPLDITAERVERLMCTGSQTFDSFPPETQALKAAFMKCGSEDTAPVIIFVSKMFAVDAKALPQNKPRPLTQEEIAQRRERARQRHAEKLAAAQGQAPLEPTQDGSAIETCPKGEEPRGDEQQVESMTPKPVLQEENNQESFIAFARVFSGVARRGKKIFVLGPKYSPLEFLRRVPLGFSAPPDGLPQVPHMAYCALENLYLLMGRELEYLEEVPPGNVLGIGGLQDFVLKSATLCSLPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLLNQADPCVQILIQETGEHVLVTAGEVHLQRCLDDLKERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQMKEDQSKIPEGIQVDSDGLITITTPNKLATLSVRAMPLPEEVTQILEENSDLIRSMEQLTSSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIVDQIWSFGPRKCGPNILVNKSEDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLSKFEEQGASDLAKEGQEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQLIATMKEACRYALQVKPQRLMAAMYTCDIMATGDVLGRVYAVLSKREGRVLQEEMKEGTDMFIIKAVLPVAESFGFADEIRKRTSGLASPQLVFSHWEIIPSDPFWVPTTEEEYLHFGEKADSENQARKYMNAVRKRKGLYVEEKIVEHAEKQRTLSKNK
uniprot
proteins
disease_involvement
DISEASE: Shwachman-Diamond syndrome 2 (SDS2) [MIM:617941]: A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS2 inheritance is autosomal recessive. {ECO:0000269|PubMed:28331068}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: GTPase involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. {ECO:0000269|PubMed:21536732}.
uniprot
proteins
mass_dalton
125430
uniprot
proteins
mutagenesis
MUTAGEN 33; /note="T->A: Loss of GTPase activity. Abolishes dissociation of EIF6 from 60S pre-ribosome subunits."; /evidence="ECO:0000269|PubMed:21536732"; MUTAGEN 96; /note="H->A: Loss of GTPase activity. Abolishes dissociation of EIF6 from 60S pre-ribosome subunits."; /evidence="ECO:0000269|PubMed:21536732
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21536732
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25015090
uniprot
proteins
pubmed
25991726
uniprot
proteins
pubmed
26479198
uniprot
proteins
pubmed
28331068
uniprot
proteins
sequence_length
1120
uniprot
proteins