UniProtKB - Q9H173 (SIL1_HUMAN)
Protein
Nucleotide exchange factor SIL1
Gene
SIL1
Organism
Homo sapiens (Human)
Status
Functioni
Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.1 Publication
GO - Molecular functioni
- unfolded protein binding Source: UniProtKB
GO - Biological processi
- intracellular protein transport Source: UniProtKB
- protein folding Source: UniProtKB
Keywordsi
Biological process | Protein transport, Translocation, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9H173 |
SIGNORi | Q9H173 |
Names & Taxonomyi
Protein namesi | Recommended name: Nucleotide exchange factor SIL1Alternative name(s): BiP-associated protein Short name: BAP |
Gene namesi | Name:SIL1 ORF Names:UNQ545/PRO836 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24624, SIL1 |
MIMi | 608005, gene |
neXtProti | NX_Q9H173 |
VEuPathDBi | HostDB:ENSG00000120725.12 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum lumen 2 Publications
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum lumen Source: UniProtKB-SubCell
Extracellular region or secreted
- extracellular space Source: UniProtKB
Keywords - Cellular componenti
Endoplasmic reticulumPathology & Biotechi
Involvement in diseasei
Marinesco-Sjoegren syndrome (MSS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
Related information in OMIMKeywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 64374 |
GeneReviewsi | SIL1 |
MalaCardsi | SIL1 |
MIMi | 248800, phenotype |
OpenTargetsi | ENSG00000120725 |
Orphaneti | 559, Marinesco-Sjoegren syndrome |
PharmGKBi | PA142670916 |
Miscellaneous databases
Pharosi | Q9H173, Tbio |
Genetic variation databases
BioMutai | SIL1 |
DMDMi | 74733533 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 31 | Sequence analysisAdd BLAST | 31 | |
ChainiPRO_0000223354 | 32 – 461 | Nucleotide exchange factor SIL1Add BLAST | 430 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 193 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 236 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
N-glycosylated.2 Publications
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q9H173 |
jPOSTi | Q9H173 |
MassIVEi | Q9H173 |
MaxQBi | Q9H173 |
PaxDbi | Q9H173 |
PeptideAtlasi | Q9H173 |
PRIDEi | Q9H173 |
ProteomicsDBi | 80376 |
PTM databases
GlyConnecti | 1581, 1 N-Linked glycan (1 site) |
GlyGeni | Q9H173, 3 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q9H173 |
PhosphoSitePlusi | Q9H173 |
Expressioni
Tissue specificityi
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.2 Publications
Developmental stagei
Expressed in fetal kidney, fetal lung, fetal liver and at low levels in fetal brain.1 Publication
Gene expression databases
Bgeei | ENSG00000120725, Expressed in placenta and 211 other tissues |
ExpressionAtlasi | Q9H173, baseline and differential |
Genevisiblei | Q9H173, HS |
Organism-specific databases
HPAi | ENSG00000120725, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with HSPA5.
1 PublicationBinary interactionsi
Hide detailsGO - Molecular functioni
- unfolded protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 122145, 32 interactors |
IntActi | Q9H173, 24 interactors |
MINTi | Q9H173 |
STRINGi | 9606.ENSP00000378294 |
Miscellaneous databases
RNActi | Q9H173, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 256 | Interaction with HSPA5 and localization to the endoplasmic reticulumBy similarityAdd BLAST | 256 |
Sequence similaritiesi
Belongs to the SIL1 family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG2160, Eukaryota |
GeneTreei | ENSGT00940000153909 |
InParanoidi | Q9H173 |
OrthoDBi | 1501690at2759 |
PhylomeDBi | Q9H173 |
TreeFami | TF324307 |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold |
SUPFAMi | SSF48371, SSF48371, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All
Q9H173-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAPQSLPSSR MAPLGMLLGL LMAACFTFCL SHQNLKEFAL TNPEKSSTKE
60 70 80 90 100
TERKETKAEE ELDAEVLEVF HPTHEWQALQ PGQAVPAGSH VRLNLQTGER
110 120 130 140 150
EAKLQYEDKF RNNLKGKRLD INTNTYTSQD LKSALAKFKE GAEMESSKED
160 170 180 190 200
KARQAEVKRL FRPIEELKKD FDELNVVIET DMQIMVRLIN KFNSSSSSLE
210 220 230 240 250
EKIAALFDLE YYVHQMDNAQ DLLSFGGLQV VINGLNSTEP LVKEYAAFVL
260 270 280 290 300
GAAFSSNPKV QVEAIEGGAL QKLLVILATE QPLTAKKKVL FALCSLLRHF
310 320 330 340 350
PYAQRQFLKL GGLQVLRTLV QEKGTEVLAV RVVTLLYDLV TEKMFAEEEA
360 370 380 390 400
ELTQEMSPEK LQQYRQVHLL PGLWEQGWCE ITAHLLALPE HDAREKVLQT
410 420 430 440 450
LGVLLTTCRD RYRQDPQLGR TLASLQAEYQ VLASLELQDG EDEGYFQELL
460
GSVNSLLKEL R
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RIU8 | D6RIU8_HUMAN | Nucleotide exchange factor SIL1 | SIL1 | 163 | Annotation score: | ||
D6RAI3 | D6RAI3_HUMAN | Nucleotide exchange factor SIL1 | SIL1 | 125 | Annotation score: | ||
D6RG16 | D6RG16_HUMAN | Nucleotide exchange factor SIL1 | SIL1 | 123 | Annotation score: | ||
D6RBP7 | D6RBP7_HUMAN | Nucleotide exchange factor SIL1 | SIL1 | 123 | Annotation score: | ||
D6R940 | D6R940_HUMAN | Nucleotide exchange factor SIL1 | SIL1 | 94 | Annotation score: | ||
D6REA1 | D6REA1_HUMAN | Nucleotide exchange factor SIL1 | SIL1 | 468 | Annotation score: | ||
A0RZB6 | A0RZB6_HUMAN | Endoplasmic reticulum chaperone | SIL1 | 83 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 57 | K → E in BAC11096 (PubMed:16303743).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034495 | 80 | Q → R. Corresponds to variant dbSNP:rs35581768EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ299442 mRNA Translation: CAC17773.1 AF547994 mRNA Translation: AAN84477.1 AY358950 mRNA Translation: AAQ89309.1 AK074624 mRNA Translation: BAC11096.1 AK075177 mRNA Translation: BAC11452.1 CH471062 Genomic DNA Translation: EAW62120.1 CH471062 Genomic DNA Translation: EAW62121.1 BC011568 mRNA Translation: AAH11568.1 |
CCDSi | CCDS4209.1 |
RefSeqi | NP_001032722.1, NM_001037633.1 NP_071909.1, NM_022464.4 |
Genome annotation databases
Ensembli | ENST00000265195; ENSP00000265195; ENSG00000120725 ENST00000394817; ENSP00000378294; ENSG00000120725 |
GeneIDi | 64374 |
KEGGi | hsa:64374 |
UCSCi | uc003ldo.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ299442 mRNA Translation: CAC17773.1 AF547994 mRNA Translation: AAN84477.1 AY358950 mRNA Translation: AAQ89309.1 AK074624 mRNA Translation: BAC11096.1 AK075177 mRNA Translation: BAC11452.1 CH471062 Genomic DNA Translation: EAW62120.1 CH471062 Genomic DNA Translation: EAW62121.1 BC011568 mRNA Translation: AAH11568.1 |
CCDSi | CCDS4209.1 |
RefSeqi | NP_001032722.1, NM_001037633.1 NP_071909.1, NM_022464.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6LBN | X-ray | 2.90 | A/B | 452-461 | [»] | |
6LEY | X-ray | 2.39 | A/B | 452-461 | [»] | |
SMRi | Q9H173 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122145, 32 interactors |
IntActi | Q9H173, 24 interactors |
MINTi | Q9H173 |
STRINGi | 9606.ENSP00000378294 |
PTM databases
GlyConnecti | 1581, 1 N-Linked glycan (1 site) |
GlyGeni | Q9H173, 3 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q9H173 |
PhosphoSitePlusi | Q9H173 |
Genetic variation databases
BioMutai | SIL1 |
DMDMi | 74733533 |
Proteomic databases
EPDi | Q9H173 |
jPOSTi | Q9H173 |
MassIVEi | Q9H173 |
MaxQBi | Q9H173 |
PaxDbi | Q9H173 |
PeptideAtlasi | Q9H173 |
PRIDEi | Q9H173 |
ProteomicsDBi | 80376 |
Protocols and materials databases
Antibodypediai | 2386, 307 antibodies |
DNASUi | 64374 |
Genome annotation databases
Ensembli | ENST00000265195; ENSP00000265195; ENSG00000120725 ENST00000394817; ENSP00000378294; ENSG00000120725 |
GeneIDi | 64374 |
KEGGi | hsa:64374 |
UCSCi | uc003ldo.4, human |
Organism-specific databases
CTDi | 64374 |
DisGeNETi | 64374 |
GeneCardsi | SIL1 |
GeneReviewsi | SIL1 |
HGNCi | HGNC:24624, SIL1 |
HPAi | ENSG00000120725, Low tissue specificity |
MalaCardsi | SIL1 |
MIMi | 248800, phenotype 608005, gene |
neXtProti | NX_Q9H173 |
OpenTargetsi | ENSG00000120725 |
Orphaneti | 559, Marinesco-Sjoegren syndrome |
PharmGKBi | PA142670916 |
VEuPathDBi | HostDB:ENSG00000120725.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2160, Eukaryota |
GeneTreei | ENSGT00940000153909 |
InParanoidi | Q9H173 |
OrthoDBi | 1501690at2759 |
PhylomeDBi | Q9H173 |
TreeFami | TF324307 |
Enzyme and pathway databases
PathwayCommonsi | Q9H173 |
SIGNORi | Q9H173 |
Miscellaneous databases
BioGRID-ORCSi | 64374, 5 hits in 874 CRISPR screens |
ChiTaRSi | SIL1, human |
GeneWikii | SIL1 |
GenomeRNAii | 64374 |
Pharosi | Q9H173, Tbio |
PROi | PR:Q9H173 |
RNActi | Q9H173, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000120725, Expressed in placenta and 211 other tissues |
ExpressionAtlasi | Q9H173, baseline and differential |
Genevisiblei | Q9H173, HS |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold |
SUPFAMi | SSF48371, SSF48371, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SIL1_HUMAN | |
Accessioni | Q9H173Primary (citable) accession number: Q9H173 Secondary accession number(s): D3DQC2, Q8N2L3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2006 |
Last sequence update: | March 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants