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Aliases for SIL1 Gene

Aliases for SIL1 Gene

  • SIL1 Nucleotide Exchange Factor 2 3 5
  • BiP-Associated Protein 3 4
  • BAP 3 4
  • SIL1 Homolog, Endoplasmic Reticulum Chaperone (S. Cerevisiae) 2
  • SIL1-Like Protein Endoplasmic Reticulum Chaperone 3
  • SIL1 Homolog, Endoplasmic Reticulum Chaperone 3
  • Marinesco-Sjogren Syndrome 2
  • ULG5 3
  • MSS 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 binding and 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

Promoters for SIL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SIL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SIL1 Gene

138,946,720 bp from pter
139,293,557 bp from pter
346,838 bases
Minus strand

Genomic View for SIL1 Gene

Genes around SIL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Nucleotide exchange factor SIL1
    Protein Accession:
    Secondary Accessions:
    • D3DQC2
    • Q8N2L3

    Protein attributes for SIL1 Gene

    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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SIL1

No data available for DME Specific Peptides for SIL1 Gene

Domains & Families for SIL1 Gene

Protein Domains for SIL1 Gene


Suggested Antigen Peptide Sequences for SIL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SIL1 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.

Phenotypes for SIL1 Gene

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

Human Phenotype Ontology for SIL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for SIL1 Gene

miRTarBase miRNAs that target SIL1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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

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

Gene Ontology (GO) - Cellular Components for SIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum NAS 11101517
genes like me logo Genes that share ontologies with SIL1: view

Pathways & Interactions 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


No data available for SIGNOR curated interactions for SIL1 Gene

Drugs & Compounds for SIL1 Gene

(1) Drugs for SIL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SIL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
ECgene alternative splicing isoforms for

Expression for SIL1 Gene

mRNA expression in normal human tissues for SIL1 Gene

Protein differential expression in normal tissues from HIPED for SIL1 Gene

This gene is overexpressed in Milk (29.5) and Testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

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 expression patterns with SIL1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
(Bos Taurus)
Mammalia SIL1 35
  • 87.26 (n)
  • 86.24 (a)
SIL1 36
  • 86 (a)
(Canis familiaris)
Mammalia SIL1 35
  • 89.57 (n)
  • 91.96 (a)
SIL1 36
  • 86 (a)
(Mus musculus)
Mammalia Sil1 35
  • 84.96 (n)
  • 85.47 (a)
Sil1 16
Sil1 36
  • 85 (a)
(Pan troglodytes)
Mammalia SIL1 35
  • 99.19 (n)
  • 99.11 (a)
SIL1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Sil1 35
  • 85.39 (n)
  • 85.9 (a)
(Monodelphis domestica)
Mammalia SIL1 36
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia SIL1 36
  • 50 (a)
(Gallus gallus)
Aves SIL1 35
  • 67.61 (n)
  • 63.15 (a)
SIL1 36
  • 59 (a)
(Anolis carolinensis)
Reptilia SIL1 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sil1 35
  • 56.95 (n)
  • 55.21 (a)
(Danio rerio)
Actinopterygii LOC568308 35
  • 58.25 (n)
  • 52.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10420 37
  • 32 (a)
CG10420 35
  • 45.71 (n)
  • 33.14 (a)
CG10420 36
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003488 35
  • 48.3 (n)
  • 31.59 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIL1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
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

Gene Tree for SIL1 (if available)
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
rs35581768 - 139,121,040(-) CCTTC(A/G)GCCAG reference, missense
rs929775 -- 139,188,987(-) AGGTA(A/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

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

Variation tolerance for SIL1 Gene

Residual Variation Intolerance Score: 74.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SIL1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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

Disorders for SIL1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SIL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
marinesco-sjogren syndrome
  • marinesco-sjögren syndrome
sjogren's syndrome
  • sicca syndrome
marchiafava bignami disease
  • acute marchiafava-bignami disease
marshall-smith syndrome
  • marinesco-sjogren syndrome
spindle cell synovial sarcoma
  • synovial sarcoma with spindle cell components
- elite association - COSMIC cancer census association via MalaCards
Search SIL1 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for SIL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SIL1: view

No data available for Genatlas for SIL1 Gene

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 67
  2. Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-SjAPgren syndrome. (PMID: 20111056) Takahata T. … Kitaoka T. (J. Hum. Genet. 2010) 3 23
  3. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-SjAPgren syndrome. (PMID: 18285827) Anttonen A.K. … Lehesjoki A.E. (Eur. J. Hum. Genet. 2008) 3 23
  4. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-SjAPgren syndrome. (PMID: 18395226) Eriguchi M. … Kuroda Y. (J. Neurol. Sci. 2008) 3 23
  5. The gene disrupted in Marinesco-Sjoegren syndrome encodes SIL1, an HSPA5 cochaperone. (PMID: 16282978) Anttonen A.-K. … Lehesjoki A.-E. (Nat. Genet. 2005) 3 23

Products for SIL1 Gene

Sources for SIL1 Gene

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