HBS1L
entrez
10767
canonical
uniprot
Q9Y450
canonical
ensembl
ENSG00000112339
resolver
ensp
ENSP00000356796
resolver
ensp
ENSP00000356800
resolver
ensp
ENSP00000356811
resolver
ensp
ENSP00000436256
resolver
ensp
ENSP00000668400
resolver
ensp
ENSP00000699319
resolver
enst
ENST00000527578
resolver
genesymbol
HBS1L
resolver
genesymbol_syn
HBS1
resolver
genesymbol_syn
KIAA1038
resolver
hgnc
HGNC:4834
resolver
uniprot
B7Z365
resolver
uniprot
B7Z524
resolver
uniprot
F6UGG1
resolver
uniprot
Q4VX89
resolver
uniprot
Q4VX90
resolver
uniprot
Q5T7G3
resolver
uniprot
Q8NDW9
resolver
uniprot
Q9UPW3
resolver
uniprot_entry
B7Z524_HUMAN
resolver
uniprot_entry
F6UGG1_HUMAN
resolver
uniprot_entry
HBS1L_HUMAN
resolver
uniprot_sec
B7Z365
resolver
uniprot_sec
Q4VX89
resolver
uniprot_sec
Q4VX90
resolver
uniprot_sec
Q5T7G3
resolver
uniprot_sec
Q8NDW9
resolver
uniprot_sec
Q9UPW3
resolver
amino_acid_sequence
MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSNHQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in HBS1L have been found in one patient with a developmental disorder characterized by growth restriction, facial dysmorphism and developmental delay (PubMed:24288412, PubMed:30707697). Additional pleiotropic features include sparse hair and eyebrows, deep-set eyes with blue sclerae, bifid uvula with a submucous cleft palate, velopharyngeal insufficiency, C2-C3 vertebral fusion, scoliosis, vesicoureteral reflux with a bladder diverticulum and significant hypotonia (PubMed:24288412, PubMed:30707697). Deficiency is caused by the complete absence of isoform 1 and isoform 3, while isoform 2 is relatively unaffected in this patient (PubMed:30707697). {ECO:0000269|PubMed:24288412, ECO:0000269|PubMed:30707697}.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: GTPase component of the Pelota-HBS1L complex, a complex that recognizes stalled ribosomes and triggers the No-Go Decay (NGD) pathway (PubMed:21448132, PubMed:23667253, PubMed:27863242). The Pelota-HBS1L complex recognizes ribosomes stalled at the 3' end of an mRNA and engages stalled ribosomes by destabilizing mRNA in the mRNA channel (PubMed:27863242). Following mRNA extraction from stalled ribosomes by the SKI complex, the Pelota-HBS1L complex promotes recruitment of ABCE1, which drives the disassembly of stalled ribosomes, followed by degradation of damaged mRNAs as part of the NGD pathway (PubMed:21448132, PubMed:32006463). {ECO:0000269|PubMed:21448132, ECO:0000269|PubMed:23667253, ECO:0000269|PubMed:27863242, ECO:0000269|PubMed:32006463}.
uniprot
proteins
mass_dalton
75473
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21448132
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23667253
uniprot
proteins
pubmed
24288412
uniprot
proteins
pubmed
27863242
uniprot
proteins
pubmed
28204585
uniprot
proteins
pubmed
30707697
uniprot
proteins
pubmed
32006463
uniprot
proteins
pubmed
9872408
uniprot
proteins
sequence_length
684
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:21448132}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:28204585}.
uniprot
proteins