SNF8
entrez
11267
canonical
uniprot
Q96H20
canonical
ensembl
ENSG00000159210
resolver
ensp
ENSP00000290330
resolver
ensp
ENSP00000421380
resolver
ensp
ENSP00000526304
resolver
genesymbol
SNF8
resolver
genesymbol_syn
EAP30
resolver
hgnc
HGNC:17028
resolver
uniprot
Q8IXY3
resolver
uniprot
Q9UN50
resolver
uniprot_entry
SNF8_HUMAN
resolver
uniprot_sec
Q8IXY3
resolver
uniprot_sec
Q9UN50
resolver
amino_acid_sequence
MHRRGVGAGAIAKKKLAEAKYKERGTVLAEDQLAQMSKQLDMFKTNLEEFASKHKQEIRKNPEFRVQFQDMCATIGVDPLASGKGFWSEMLGVGDFYYELGVQIIEVCLALKHRNGGLITLEELHQQVLKGRGKFAQDVSQDDLIRAIKKLKALGTGFGIIPVGGTYLIQSVPAELNMDHTVVLQLAEKNGYVTVSEIKASLKWETERARQVLEHLLKEGLAWLDLQAPGEAHYWLPALFTDLYSQEITAEEAREALP
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 115 (DEE115) [MIM:620783]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE115 is an autosomal recessive, severe form characterized by onset soon after birth. Affected individuals show massive reduction of white matter, hypo- or aplasia of the corpus callosum, and neurodevelopmental arrest. Death in the first year of life may occur. {ECO:0000269|PubMed:38423010}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder plus optic atrophy (NEDOA) [MIM:620784]: An autosomal recessive disorder characterized by mild developmental delay, intellectual disability and childhood-onset optic atrophy or ataxia. {ECO:0000269|PubMed:38423010}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs, and plays a role in autophagy (PubMed:38423010). The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). {ECO:0000269|PubMed:17714434, ECO:0000269|PubMed:17959629, ECO:0000269|PubMed:18031739, ECO:0000269|PubMed:22660413, ECO:0000269|PubMed:38423010}.
uniprot
proteins
mass_dalton
28864
uniprot
proteins
protein_family
SNF8 family
uniprot
proteins
pubmed
10419521
uniprot
proteins
pubmed
14505570
uniprot
proteins
pubmed
14519844
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16260042
uniprot
proteins
pubmed
16857164
uniprot
proteins
pubmed
16973552
uniprot
proteins
pubmed
17010938
uniprot
proteins
pubmed
17714434
uniprot
proteins
pubmed
17959629
uniprot
proteins
pubmed
18031739
uniprot
proteins
pubmed
18539118
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22660413
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
38423010
uniprot
proteins
sequence_length
258
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane. Nucleus {ECO:0000305}. Late endosome membrane. Note=Recruited to the endosome membrane to participate in vesicle formation.
uniprot
proteins