SIL1
entrez
64374
canonical
uniprot
Q9H173
canonical
ensembl
ENSG00000120725
resolver
ensp
ENSP00000265195
resolver
ensp
ENSP00000378294
resolver
ensp
ENSP00000538061
resolver
ensp
ENSP00000538063
resolver
ensp
ENSP00000538064
resolver
ensp
ENSP00000538065
resolver
ensp
ENSP00000538066
resolver
ensp
ENSP00000538069
resolver
ensp
ENSP00000538070
resolver
ensp
ENSP00000618192
resolver
ensp
ENSP00000618193
resolver
ensp
ENSP00000618194
resolver
ensp
ENSP00000618195
resolver
ensp
ENSP00000618196
resolver
ensp
ENSP00000618199
resolver
ensp
ENSP00000618201
resolver
ensp
ENSP00000618202
resolver
ensp
ENSP00000618207
resolver
ensp
ENSP00000618208
resolver
enst
ENST00000265195
resolver
enst
ENST00000394817
resolver
enst
ENST00000868002
resolver
enst
ENST00000868004
resolver
enst
ENST00000868005
resolver
enst
ENST00000868006
resolver
enst
ENST00000868007
resolver
enst
ENST00000868010
resolver
enst
ENST00000868011
resolver
enst
ENST00000948133
resolver
enst
ENST00000948134
resolver
enst
ENST00000948135
resolver
enst
ENST00000948136
resolver
enst
ENST00000948137
resolver
enst
ENST00000948140
resolver
enst
ENST00000948143
resolver
enst
ENST00000948148
resolver
enst
ENST00000948149
resolver
genesymbol
SIL1
resolver
hgnc
HGNC:24624
resolver
uniprot
A0A0S2Z6B4
resolver
uniprot
D3DQC2
resolver
uniprot
Q8N2L3
resolver
uniprot_entry
A0A0S2Z6B4_HUMAN
resolver
uniprot_entry
SIL1_HUMAN
resolver
uniprot_sec
D3DQC2
resolver
uniprot_sec
Q8N2L3
resolver
amino_acid_sequence
MAPQSLPSSRMAPLGMLLGLLMAACFTFCLSHQNLKEFALTNPEKSSTKETERKETKAEEELDAEVLEVFHPTHEWQALQPGQAVPAGSHVRLNLQTGEREAKLQYEDKFRNNLKGKRLDINTNTYTSQDLKSALAKFKEGAEMESSKEDKARQAEVKRLFRPIEELKKDFDELNVVIETDMQIMVRLINKFNSSSSSLEEKIAALFDLEYYVHQMDNAQDLLSFGGLQVVINGLNSTEPLVKEYAAFVLGAAFSSNPKVQVEAIEGGALQKLLVILATEQPLTAKKKVLFALCSLLRHFPYAQRQFLKLGGLQVLRTLVQEKGTEVLAVRVVTLLYDLVTEKMFAEEEAELTQEMSPEKLQQYRQVHLLPGLWEQGWCEITAHLLALPEHDAREKVLQTLGVLLTTCRDRYRQDPQLGRTLASLQAEYQVLASLELQDGEDEGYFQELLGSVNSLLKELR
uniprot
proteins
disease_involvement
DISEASE: Marinesco-Sjoegren syndrome (MSS) [MIM:248800]: Autosomal recessive multisystem disorder which is characterized by cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule cell loss and myopathy featuring marked muscle replacement with fat and connective tissue. Other cardinal features include bilateral cataracts, hypergonadotrophic hypogonadism and mild to severe intellectual disability. Skeletal abnormalities, short stature, dysarthria, strabismus and nystagmus are also frequent findings. Mutational inactivation of this protein may result in ER stress-induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins which are critical for the organs targeted in MSS. {ECO:0000269|PubMed:16282977, ECO:0000269|PubMed:16282978}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5. {ECO:0000269|PubMed:12356756}.
uniprot
proteins
mass_dalton
52085
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:12356756, ECO:0000269|PubMed:19159218}.; PTM: Ubiquitinated by the CRL2(FEM1A) and CRL2(FEM1C) complexes, which recognize the -Lys-Xaa-Xaa-Arg C-degron at the C-terminus, leading to its degradation. {ECO:0000269|PubMed:33398168, ECO:0000269|PubMed:33398170}.
uniprot
proteins
protein_family
SIL1 family
uniprot
proteins
pubmed
11101517
uniprot
proteins
pubmed
12356756
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16282977
uniprot
proteins
pubmed
16282978
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
33398168
uniprot
proteins
pubmed
33398170
uniprot
proteins
pubmed
38326650
uniprot
proteins
sequence_length
461
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:12356756, ECO:0000269|PubMed:16282978}.
uniprot
proteins