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Aliases for SIL1 Gene

Aliases for SIL1 Gene

  • SIL1 Nucleotide Exchange Factor 2 3
  • BiP-Associated Protein 3 4
  • BAP 3 4
  • SIL1 Homolog, Endoplasmic Reticulum Chaperone (S. Cerevisiae) 2
  • 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 pyomyositis. 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

Genomic Location for SIL1 Gene

Chromosome:
5
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

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SIL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H173

UniProtKB/Swiss-Prot:

SIL1_HUMAN :
  • Belongs to the SIL1 family.
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:0000774 adenyl-nucleotide exchange factor activity IBA --
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

MGI mutant phenotypes for SIL1:
inferred from 2 alleles
GenomeRNAi human phenotypes for SIL1:
genes like me logo Genes that share phenotypes with SIL1: view

Animal Model Products

miRNA for SIL1 Gene

miRTarBase miRNAs that target SIL1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SIL1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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
GO:0050790 regulation of catalytic activity IBA --
genes like me logo Genes that share ontologies with SIL1: view

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
hydroxyproline Approved, Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Deoxypyridinoline
  • 4-(2-Amino-2-carboxyethyl)-1-(5-amino-5-carboxypentyl)-3-(3-amino-3-carboxypropyl)-5-hydroxy-Pyridinium inner salt stereoisomer
  • Deoxipyridinoline
  • Deoxy-pyridinoline
  • Deoxypiridinoline
  • Deoxypirydynoline
83462-55-9
Procollagen
Pyridinoline
  • (+)-pyridinoline
  • 1-(2S)-(+)-Pyridinoline
  • 4-((2S)-2-Amino-2-carboxyethyl)-1-((2R,5S)-5-amino-5-carboxy-2-hydroxypentyl)-3-((3S)-3-amino-3-carboxypropyl)-5-hydroxy-Pyridinium inner salt
  • Hydroxylysylpyridinoline
  • Pyridinoline
63800-01-1
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SIL1

Flow Cytometry Products

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

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

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 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
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
chimpanzee
(Pan troglodytes)
Mammalia SIL1 35
  • 99.19 (n)
  • 99.11 (a)
SIL1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sil1 35
  • 85.39 (n)
  • 85.9 (a)
oppossum
(Monodelphis domestica)
Mammalia SIL1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIL1 36
  • 50 (a)
OneToOne
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)
fruit fly
(Drosophila melanogaster)
Insecta CG10420 37
  • 32 (a)
CG10420 35
  • 45.71 (n)
  • 33.14 (a)
CG10420 36
  • 30 (a)
OneToOne
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)
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
VAR_034495 -

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: 74.76% 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
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

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

Disorder Aliases PubMed IDs
marinesco-sjogren syndrome
  • marinesco-sjögren syndrome
pyomyositis
  • tropical pyomyositis
sjogren's syndrome
  • xerodermosteosis
spindle cell synovial sarcoma
  • synovial sarcoma, monophasic fibrous
small intestine lymphoma
  • small intestinal lymphoma
- elite association
Search SIL1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SIL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SIL1
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 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) 23 67
  3. 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) 23 67
  4. 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) 23 67
  5. The heat shock protein 70 molecular chaperone network in the pancreatic endoplasmic reticulum - a quantitative approach. (PMID: 17850331) Weitzmann A. … Zimmermann R. (FEBS J. 2007) 23 67

Products for SIL1 Gene

Sources for SIL1 Gene

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