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Aliases for SIL1 Gene

Aliases for SIL1 Gene

  • SIL1 Nucleotide Exchange Factor 2 3
  • BAP 3 4 6
  • BiP-Associated Protein 3 4
  • MSS 3 6
  • SIL1 Homolog, Endoplasmic Reticulum Chaperone (S. Cerevisiae) 2
  • SIL1 Homolog, Endoplasmic Reticulum Chaperone 3
  • Nucleotide Exchange Factor SIL1 3
  • Marinesco-Sjogren Syndrome 2
  • ULG5 3

External Ids for SIL1 Gene

Previous HGNC Symbols for SIL1 Gene

  • MSS

Previous GeneCards Identifiers for SIL1 Gene

  • GC05M138157
  • GC05M138313
  • GC05M138358
  • GC05M138310
  • GC05M133472
  • GC05M138282

Summaries for SIL1 Gene

Entrez Gene Summary for SIL1 Gene

  • This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for SIL1 Gene

SIL1 (SIL1 Nucleotide Exchange Factor) is a Protein Coding gene. Diseases associated with SIL1 include marinesco-sjogren syndrome and sjogren's syndrome. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include unfolded protein binding.

UniProtKB/Swiss-Prot for SIL1 Gene

  • Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.

Gene Wiki entry for SIL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIL1 Gene

Genomics for SIL1 Gene

Regulatory Elements for SIL1 Gene

Genomic Location for SIL1 Gene

Start:
138,946,720 bp from pter
End:
139,293,557 bp from pter
Size:
346,838 bases
Orientation:
Minus strand

Genomic View for SIL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SIL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIL1 Gene

Proteins for SIL1 Gene

  • Protein details for SIL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H173-SIL1_HUMAN
    Recommended name:
    Nucleotide exchange factor SIL1
    Protein Accession:
    Q9H173
    Secondary Accessions:
    • D3DQC2
    • Q8N2L3

    Protein attributes for SIL1 Gene

    Size:
    461 amino acids
    Molecular mass:
    52085 Da
    Quaternary structure:
    • Interacts with HSPA5.

neXtProt entry for SIL1 Gene

Proteomics data for SIL1 Gene at MOPED

Post-translational modifications for SIL1 Gene

  • N-glycosylated.
  • Ubiquitination at Lys309
  • Glycosylation at Thr41, Ser46, Ser47, Thr48, Thr97, Thr127, Ser128, Asn193, and Asn236
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SIL1 Gene

Domains for SIL1 Gene

Protein Domains for SIL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SIL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H173

UniProtKB/Swiss-Prot:

SIL1_HUMAN :
  • Q9H173
Family:
  • Belongs to the SIL1 family.
genes like me logo Genes that share domains with SIL1: view

No data available for Gene Families for SIL1 Gene

Function for SIL1 Gene

Molecular function for SIL1 Gene

UniProtKB/Swiss-Prot Function: Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.

Gene Ontology (GO) - Molecular Function for SIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 25416956
GO:0051082 unfolded protein binding NAS 11101517
genes like me logo Genes that share ontologies with SIL1: view

Phenotypes for SIL1 Gene

genes like me logo Genes that share phenotypes with SIL1: view

miRNA for SIL1 Gene

miRTarBase miRNAs that target SIL1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SIL1 Gene

Localization for SIL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIL1 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SIL1 Gene COMPARTMENTS Subcellular localization image for SIL1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005783 endoplasmic reticulum NAS 11101517
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with SIL1: view

Pathways for SIL1 Gene

genes like me logo Genes that share pathways with SIL1: view

Pathways by source for SIL1 Gene

1 KEGG pathway for SIL1 Gene

Gene Ontology (GO) - Biological Process for SIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 11101517
GO:0006886 intracellular protein transport NAS 11101517
genes like me logo Genes that share ontologies with SIL1: view

Compounds for SIL1 Gene

(4) Novoseek inferred chemical compound relationships for SIL1 Gene

Compound -log(P) Hits PubMed IDs
pyridinoline 71.3 4
procollagen 71.3 4
deoxypyridinoline 67.6 3
hydroxyproline 38 1
genes like me logo Genes that share compounds with SIL1: view

Transcripts for SIL1 Gene

Unigene Clusters for SIL1 Gene

SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SIL1 Gene

No ASD Table

Relevant External Links for SIL1 Gene

GeneLoc Exon Structure for
SIL1
ECgene alternative splicing isoforms for
SIL1

Expression for SIL1 Gene

mRNA expression in normal human tissues for SIL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SIL1 Gene

SOURCE GeneReport for Unigene cluster for SIL1 Gene Hs.483521

mRNA Expression by UniProt/SwissProt for SIL1 Gene

Q9H173-SIL1_HUMAN
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.
genes like me logo Genes that share expressions with SIL1: view

No data available for mRNA differential expression in normal tissues for SIL1 Gene

Orthologs for SIL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SIL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIL1 35
  • 99.19 (n)
  • 99.11 (a)
SIL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SIL1 35
  • 87.26 (n)
  • 86.24 (a)
SIL1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SIL1 35
  • 89.57 (n)
  • 91.96 (a)
SIL1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sil1 35
  • 84.96 (n)
  • 85.47 (a)
Sil1 16
Sil1 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIL1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIL1 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sil1 35
  • 85.39 (n)
  • 85.9 (a)
chicken
(Gallus gallus)
Aves SIL1 35
  • 67.61 (n)
  • 63.15 (a)
SIL1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIL1 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sil1 35
  • 56.95 (n)
  • 55.21 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC568308 35
  • 58.25 (n)
  • 52.97 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003488 35
  • 48.3 (n)
  • 31.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10420 35
  • 45.71 (n)
  • 33.14 (a)
CG10420 36
  • 30 (a)
OneToOne
CG10420 37
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIL1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for SIL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SIL1 Gene

ENSEMBL:
Gene Tree for SIL1 (if available)
TreeFam:
Gene Tree for SIL1 (if available)

Paralogs for SIL1 Gene

No data available for Paralogs for SIL1 Gene

Variants for SIL1 Gene

Sequence variations from dbSNP and Humsavar for SIL1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs929775 -- 139,188,987(-) AGGTA(G/T)TTCAT intron-variant
rs975896 -- 139,159,105(+) AGAGG(A/G)AAAAA intron-variant
rs977148 -- 139,158,140(+) GCCAC(A/C)TTCCC intron-variant
rs1079090 -- 139,092,953(-) tgtga(C/T)agtga intron-variant
rs1368374 -- 139,104,112(+) TCCCT(A/G)TGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SIL1 Gene

Variant ID Type Subtype PubMed ID
dgv6340n71 CNV Loss 21882294
esv2666199 CNV Deletion 23128226
nsv436490 CNV Deletion 17901297
nsv5027 CNV Insertion 18451855
esv2672987 CNV Deletion 23128226

Relevant External Links for SIL1 Gene

HapMap Linkage Disequilibrium report
SIL1
Human Gene Mutation Database (HGMD)
SIL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIL1 Gene

Disorders for SIL1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for SIL1 Gene including...

Search for SIL1 Gene in MalaCards »

(1) OMIM Diseases for SIL1 Gene (608005)

UniProtKB/Swiss-Prot

SIL1_HUMAN
  • 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:0000269 PubMed:16282977, ECO:0000269 PubMed:16282978}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SIL1 Gene

(8) Novoseek inferred disease relationships for SIL1 Gene

Disease -log(P) Hits PubMed IDs
marinesco-sjogren syndrome 85.6 4
bone diseases 59.7 3
renal osteodystrophy 58.3 1
bone diseases metabolic 56.8 1
myopathy 50.5 2

Relevant External Links for SIL1

GeneTests
SIL1
GeneReviews
SIL1
genes like me logo Genes that share disorders with SIL1: view

Publications for SIL1 Gene

  1. Mutations in SIL1 cause Marinesco-Sjoegren syndrome, a cerebellar ataxia with cataract and myopathy. (PMID: 16282977) Senderek J. … Zerres K. (Nat. Genet. 2005) 2 3 4 23
  2. The gene disrupted in Marinesco-Sjoegren syndrome encodes SIL1, an HSPA5 cochaperone. (PMID: 16282978) Anttonen A.-K. … Lehesjoki A.-E. (Nat. Genet. 2005) 3 4 23
  3. LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum. (PMID: 11101517) Tyson J.R. … Stirling C.J. (EMBO J. 2000) 2 3 4
  4. BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP. (PMID: 12356756) Chung K.T. … Hendershot L.M. (J. Biol. Chem. 2002) 2 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for SIL1 Gene

Sources for SIL1 Gene

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