InnateDB Protein
|
IDBP-47483.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
SIL1
|
Protein Name
|
SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000265195
|
InnateDB Gene
|
IDBG-47481 (SIL1)
|
Protein Structure
|
|
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:0000269PubMed:12356756}.
|
Subcellular Localization |
Endoplasmic reticulum lumen {ECO:0000269PubMed:12356756, ECO:0000269PubMed:16282978}.
|
Disease Associations |
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 mental retardation. 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:0000269PubMed:16282977, ECO:0000269PubMed:16282978}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Highly expressed in tissues which produce large amounts of secreted proteins such as kidney, liver and placenta. Also expressed in colon, heart, lung, ovary, pancreas, peripheral leukocyte, prostate, spleen and thymus. Expressed at low levels throughout the brain. {ECO:0000269PubMed:12356756, ECO:0000269PubMed:16282978}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
7
[view]
|
Protein-Protein |
7
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
2 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR016024
Armadillo-type fold
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9H173
|
PhosphoSite |
PhosphoSite-Q9H173
|
TrEMBL |
D6RIU8
|
UniProt Splice Variant |
|
Entrez Gene |
64374
|
UniGene |
Hs.743921
|
RefSeq |
NP_001032722
|
HUGO |
HGNC:24624
|
OMIM |
608005
|
CCDS |
CCDS4209
|
HPRD |
12150
|
IMGT |
|
EMBL |
AC008614
AC011378
AC011404
AC011405
AF547994
AJ299442
AK074624
AK075177
AY358950
BC011568
CH471062
|
GenPept |
AAH11568
AAN84477
AAQ89309
BAC11096
BAC11452
CAC17773
EAW62120
EAW62121
|
|
|