LYSET
entrez
26175
canonical
uniprot
Q8N6I4
canonical
ensembl
ENSG00000153485
resolver
ensembl
ENSG00000275947
resolver
ensp
ENSP00000283534
resolver
ensp
ENSP00000388431
resolver
genesymbol
LYSET
resolver
genesymbol_syn
C14orf109
resolver
genesymbol_syn
TMEM251
resolver
hgnc
HGNC:20218
resolver
uniprot
J3KQ65
resolver
uniprot
Q9Y4S5
resolver
uniprot_entry
LYSET_HUMAN
resolver
uniprot_sec
J3KQ65
resolver
uniprot_sec
Q9Y4S5
resolver
amino_acid_sequence
MPKPPDYSELSDSLTLAVGTGRFSGPLHRAWRMMNFRQRMGWIGVGLYLLASAAAFYYVFEISETYNRLALEHIQQHPEEPLEGTTWTHSLKAQLLSLPFWVWTVIFLVPYLQMFLFLYSCTRADPKTVGYCIIPICLAVICNRHQAFVKASNQISRLQLIDT
uniprot
proteins
disease_involvement
DISEASE: Dysostosis multiplex, Ain-Naz type (DMAN) [MIM:619345]: An autosomal recessive, severe skeletal disease characterized by features of dysostosis multiplex, severe short stature, coarse facies with broad nose and prominent lips, protruding abdomens, and progressive skeletal changes causing gradual mobility loss. Death in childhood or early adulthood may occur. {ECO:0000269|PubMed:33252156, ECO:0000269|PubMed:36074821, ECO:0000269|PubMed:36074822}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for mannose-6-phosphate-dependent trafficking of lysosomal enzymes (PubMed:36074821, PubMed:36074822, PubMed:36096887). LYSET bridges GlcNAc-1-phosphate transferase (GNPTAB), to the membrane-bound transcription factor site-1 protease (MBTPS1), thus allowing proteolytic activation of the GNPTAB. GNPTAB is involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes (PubMed:36074821, PubMed:36074822, PubMed:36096887). LYSET is thus an essential factor for maturation and delivery of lysosomal hydrolases (PubMed:36074822). {ECO:0000269|PubMed:36074821, ECO:0000269|PubMed:36074822, ECO:0000269|PubMed:36096887}.; FUNCTION: (Microbial infection) Essential for infection by muliple viruses, including SARS-CoV-2, that utilize activated cathepsins for entry after M6P-dependent lysosomal transport. {ECO:0000269|PubMed:36074821}.
uniprot
proteins
mass_dalton
18747
uniprot
proteins
mutagenesis
MUTAGEN 86; /note="T->I: Rescues the lysosomal trafficking defect in LYSET-deficient cells."; /evidence="ECO:0000269|PubMed:36074821"; MUTAGEN 136; /note="I->V: Rescues the lysosomal trafficking defect in LYSET-deficient cells."; /evidence="ECO:0000269|PubMed:36074821"; MUTAGEN 150; /note="K->N: Rescues the lysosomal trafficking defect in LYSET-deficient cells."; /evidence="ECO:0000269|PubMed:36074821
uniprot
proteins
protein_family
LYSET family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
33252156
uniprot
proteins
pubmed
36074821
uniprot
proteins
pubmed
36074822
uniprot
proteins
pubmed
36096887
uniprot
proteins
sequence_length
163
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:33252156, ECO:0000269|PubMed:36074821, ECO:0000269|PubMed:36096887}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalizes with GNPTAB and GNPTG in Golgi apparatus cisternae. {ECO:0000269|PubMed:36074821}.
uniprot
proteins
transmembrane_region
TRANSMEM 40..60; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 98..118; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins