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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SIL1 Gene

protein-coding   GIFtS: 56
GCID: GC05M138282

SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)

(Previous name: Marinesco-Sjogren syndrome )
(Previous symbol: MSS)
 Explore 27 diseases affiliated with
SIL1 via our new
 Human Malady Compendium 
Biological research products
for SIL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SIL1 Homolog, Endoplasmic Reticulum Chaperone (S. Cerevisiae)1 2     BiP-Associated Protein2 3
BAP1 2 3 5     Marinesco-Sjogren Syndrome1
MSS1 2 5     Nucleotide Exchange Factor SIL12
ULG51 2     

External Ids:    HGNC: 246241   Entrez Gene: 643742   Ensembl: ENSG000001207257   OMIM: 6080055   UniProtKB: Q9H1733   

Export aliases for SIL1 gene to outside databases

Previous GC identifers: GC05M138157 GC05M138957 GC05M138313 GC05M138358 GC05M138310 GC05M133472


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SIL1:
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)

UniProtKB/Swiss-Prot: SIL1_HUMAN, Q9H173
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 Wiki entry for SIL1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SIL1 gene promoter:
         HOXA9   HOXA9B   STAT1   POU2F1   POU2F1a   Meis-1   Meis-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SIL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SIL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.2   HGNC cytogenetic band: 5q31

SIL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIL1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M138282:  view genomic region     (about GC identifiers)

Start:
138,282,409 bp from pter      End:
138,629,246 bp from pter
Size:
346,838 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SIL1_HUMAN, Q9H173 (See protein sequence)
Recommended Name: Nucleotide exchange factor SIL1 precursor  
Size: 461 amino acids; 52085 Da
Subunit: Interacts with HSPA5
Subcellular location: Endoplasmic reticulum lumen
Developmental stage: Expressed in fetal kidney, fetal lung, fetal liver and at low levels in fetal brain
Secondary accessions: D3DQC2 Q8N2L3

Explore the universe of human proteins at neXtProt for SIL1: NX_Q9H173

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H173

  • SIL1 Protein expression data from MOPED and PaxDb:    About this image 
    SIL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001032722.1  NP_071909.1  

    ENSEMBL proteins: 
     ENSP00000378294   ENSP00000265195   ENSP00000426858   ENSP00000425136   ENSP00000427371  
     ENSP00000424014   ENSP00000421890   ENSP00000426460   ENSP00000423662  

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    Novus Biologicals SIL1 Proteins
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    ProSpec Recombinant Protein for SIL1
    Uscn Proteins for SIL1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum NAS11101517
    GO:0005788endoplasmic reticulum lumen IEA--

    SIL1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SIL1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR011989 ARM-like
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q9H173

    ProtoNet protein and cluster: Q9H173

    UniProtKB/Swiss-Prot: SIL1_HUMAN, Q9H173
    Similarity: Belongs to the SIL1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SIL1_HUMAN, Q9H173
    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051082unfolded protein binding NAS11101517
         
    SIL1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sil1):
     behavior/neurological  mortality/aging  nervous system 

    SIL1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SIL1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSIL1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIL1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for SIL1):
        Protein processing in endoplasmic reticulum


    SIL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SIL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/9 Interacting proteins for SIL1 (Q9H1732, 3 ENSP000002651954) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982, 3MINT-62101 I2D: score=3 
    HSPA5P110213, ENSP000003241734I2D: score=2 STRING: ENSP00000324173
    DNAJB11ENSP000002650284STRING: ENSP00000265028
    DNAJC1ENSP000003661794STRING: ENSP00000366179
    DNAJC10ENSP000002640654STRING: ENSP00000264065
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding NAS11101517
    GO:0006886intracellular protein transport NAS11101517

    SIL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SIL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SIL1
    4 Novoseek chemical compound relationships for SIL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyridinoline 71.3 6 15849068 (2), 15570289 (1), 10354264 (1)
    procollagen 71.3 5 15849068 (1), 11704497 (1), 10354264 (1), 9012695 (1)
    deoxypyridinoline 67.6 5 15849068 (1), 10928218 (1), 15570289 (1)
    hydroxyproline 38 1 11704497 (1)

    Search CenterWatch for drugs/clinical trials and news about SIL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SIL1 gene (2 alternative transcripts): 
    NM_001037633.1  NM_022464.4  

    Unigene Cluster for SIL1:

    SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
    Hs.483521  [show with all ESTs]
    Unigene Representative Sequence: NM_001037633
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394817(uc003ldo.3 uc003ldp.3) ENST00000265195 ENST00000515008
    ENST00000509534(uc003ldq.1) ENST00000503732 ENST00000505945 ENST00000508639
    ENST00000513453 ENST00000507002 ENST00000505830 ENST00000505353 ENST00000504666
    ENST00000509400 ENST00000440765 ENST00000508744

    miRNA
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    Inhib. RNA
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    Sirion Biotech Custom design and validation of potent shRNA sequences against SIL1 
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIL1

    Additional cDNA sequence: 

    AF547994.1 AK074624.1 AK075177.1 AY358950.1 BC011568.1 DQ059315.1 DQ173771.1 DQ173772.1 

    20 DOTS entries:

    DT.100812066  DT.112108  DT.97771388  DT.100812072  DT.92441943  DT.100812057  DT.95355431  DT.100812062 
    DT.101972963  DT.95200405  DT.120805728  DT.100812069  DT.120805852  DT.100812059  DT.97846555  DT.100812060 
    DT.100038012  DT.120805674  DT.422080  DT.95347435 

    24/296 AceView cDNA sequences (see all 296):

    CF127079 BQ919008 BQ958936 BM906234 CR615501 CR607641 CR601222 CR617163 
    CF618918 BQ956450 AI685001 CK818754 AF547994 AL533390 BU681616 CR614372 
    BU620759 AL553490 BQ652370 BQ684380 AL545790 BM804965 CR604859 AK074624 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SIL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGCCCGTGA
    SIL1 Expression
    About this image
    See SIL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIL1

    SOURCE GeneReport for Unigene cluster: Hs.483521

    UniProtKB/Swiss-Prot: SIL1_HUMAN, Q9H173
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SIL1: 
              Unfolded Protein Response in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SIL1 gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sil11 , 5 endoplasmic reticulum chaperone SIL1 homolog (S. cerevisiae)1, 5 84.96(n)1
    85.47(a)1
      18 (18.97 cM)5
    815001  NM_030749.21  NP_109674.21 
     352664005 
    chicken
    (Gallus gallus)
    Aves SIL11 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) 66.74(n)
    61.4(a)
      416185  XM_414514.2  XP_414514.2 
    lizard
    (Anolis carolinensis)
    Reptilia SIL16
    --
    57(a)
    1 ↔ 1
    1(131882753-131952259)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX692186.12   -- 68.75(n)    BX692186.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5683081 nucleotide exchange factor SIL1-like 58.25(n)
    52.97(a)
      568308  XM_691630.4  XP_696722.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG104201 , 3 CG104201 32(a)3
    44.44(n)1
    32.19(a)1
      96C73
    430341  NM_143099.31  NP_651356.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G519801 nucleotide exchange factor SIL1 42.47(n)
    30.82(a)
      824361  NM_115057.4  NP_190766.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g05127001 hypothetical protein 42.96(n)
    34.22(a)
      4347551  NM_001070179.1  NP_001063644.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3298 NCBI SNPs in SIL1 are shown (see all 3298    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs77237321,2
    C,F,H--133471774(+) GCCGGG/CACTCG 2 -- ds50016Minor allele frequency- C:0.06NS EA CSA WA 532
    rs610409811,2
    F--133471917(+) CCCTGG/AGCTCC 2 -- ds50011Minor allele frequency- A:0.06WA 118
    rs77241181,2
    C,F,H--133472040(+) GTCAAG/ACCCAT 2 -- ds50016Minor allele frequency- A:0.04NS EA CSA WA 534
    rs1134333261,2
    C--133472472(+) AGAGGT/ATGGCC 2 -- ut311Minor allele frequency- A:0.00CSA 1
    rs349008311,2
    C--133474121(+) CCGCA-/TTGGCC 1 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs1133685821,2
    C--133475758(+) TGGATC/TTGAGC 2 -- int11Minor allele frequency- T:0.01NA 120
    rs744004011,2
    C--133475814(+) TTAACA/GAGAGA 2 -- int12Minor allele frequency- G:0.09CSA WA 120
    rs563172681,2
    C,F--133475934(+) CAGAGG/CGAGTG 2 -- int15Minor allele frequency- C:0.15WA CSA EA 243
    rs566840271,2
    F--133476925(+) CCTCCC/TGGCCC 2 -- int11Minor allele frequency- T:0.03WA 118
    rs589032871,2
    F--133478107(+) CGAATG/AAACAA 2 -- int11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for SIL1 (138282409 - 138532409 bp, first 250kb of SIL1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SIL1
         2 CNVs: 22501 39434
    Human Gene Mutation Database (HGMD): SIL1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SIL1
    DNA2.0 Custom Variant and Variant Library Synthesis for SIL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SIL1 for disorders           About GeneDecksing

    OMIM gene information: 608005   
    OMIM disorders: 248800  
    UniProtKB/Swiss-Prot: SIL1_HUMAN, Q9H173
  • Defects in SIL1 are a cause of Marinesco-Sjoegren syndrome (MSS) [MIM:248800]. MSS is an 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

    20/27 diseases for SIL1 (see all 27):    About MalaCards
    marinesco-sjogren syndrome    sjogren's syndrome    monoclonal gammopathy of undetermined significance    renal osteodystrophy
    short stature    dysphagia    sickle cell disease    cerebellar ataxia
    cataract    congenital cataracts    intrahepatic cholangiocarcinoma    strabismus
    ophthalmoplegia    nystagmus    multiple myeloma    schistosomiasis
    neurodegeneration    hypogonadism    myopathy    cholangiocarcinoma

    1 disease from the University of Copenhagen DISEASES database for SIL1:
    Cerebellar ataxia

    8 Novoseek disease relationships for SIL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    marinesco-sjogren syndrome 85.6 4 16282977 (3), 16282978 (1)
    bone diseases 59.7 5 8704118 (2), 16771240 (1)
    renal osteodystrophy 58.3 1 8704118 (1)
    bone diseases metabolic 56.8 1 8704118 (1)
    myopathy 50.5 2 16282977 (2)
    cataract 48.1 2 16282977 (2)
    neurodegeneration 24.4 1 16962589 (1)
    renal failure chronic 11 1 10354264 (1)

    GeneTests: SIL1
    Marinesco-Sjogren Syndrome


    Export disorders for SIL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SIL1 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with SIL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in SIL1 cause Marinesco-Sjoegren syndrome, a cerebellar ataxia with cataract and myopathy. (PubMed id 16282977)1, 2, 3, 9 Senderek J.... Zerres K. (2005)
    2. BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP. (PubMed id 12356756)1, 2, 3 Chung K.T.... Hendershot L.M. (2002)
    3. LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum. (PubMed id 11101517)1, 2, 3 Tyson J.R. and Stirling C.J. (2000)
    4. The gene disrupted in Marinesco-Sjoegren syndrome encodes SIL1, an HSPA5 cochaperone. (PubMed id 16282978)1, 2, 9 Anttonen A.-K.... Lehesjoki A.-E. (2005)
    5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    8. Novel mutations in the SIL1 gene in a Japanese pedigr ee with the Marinesco-SjAPgren syndrome. (PubMed id 20111056)1, 9 Takahata T....Kitaoka T. (2010)
    9. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjogren syndrome. (PubMed id 18285827)1, 9 Anttonen A.K....Lehesjoki A.E. (2008)
    10. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjogren syndrome. (PubMed id 18395226)1, 9 Eriguchi M....Kuroda Y. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64374 HGNC: 24624 AceView: SIL1 Ensembl:ENSG00000120725 euGenes: HUgn64374
    ECgene: SIL1 Kegg: 64374 H-InvDB: SIL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SIL1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SIL1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SIL1 gene:
    Search GeneIP for patents involving SIL1

    GeneCards and IP:
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