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

SIL1 Gene

protein-coding   GIFtS: 60
GCID: GC05M138282

SIL1 Nucleotide Exchange Factor

(Previous names: Marinesco-Sjogren syndrome, SIL1 homolog, endoplasmic reticulum...)
(Previous symbol: MSS)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SIL1 Nucleotide Exchange Factor1 2     SIL1 Homolog, Endoplasmic Reticulum Chaperone (S. Cerevisiae)1
MSS1 2 5     ULG52
BAP2 3 5     Nucleotide Exchange Factor SIL12
BiP-Associated Protein2 3     SIL1 Homolog, Endoplasmic Reticulum Chaperone2
Marinesco-Sjogren Syndrome1     

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 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-like syndrome, and marinesco-sj??gren syndrome. GO annotations related to this gene include unfolded protein binding.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SIL1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H173

  • SIL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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
    Novus Biologicals SIL1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SIL1
    Cloud-Clone Corp. 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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    Cloud-Clone Corp. ELISAs for SIL1 
    Cloud-Clone Corp. CLIAs for SIL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     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


    SIL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    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 - Custom generated mouse model solutions for SIL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SIL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SIL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SIL1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIL1
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    SwitchGear 3'UTR luciferase reporter plasmidSIL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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                         Customized lentivirus expression plasmids for stable overexpression of SIL1 

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    In Situ Assay
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    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, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SIL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    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, Ligands according to IUPHAR, 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 inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SIL1
    SwitchGear 3'UTR luciferase reporter plasmidSIL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SIL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIL1
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): SIL1 (NM_022464)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIL1
    Sirion Biotech Customized lentivirus for stable overexpression of SIL1 
                         Customized lentivirus expression plasmids for stable overexpression of SIL1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SIL1
    OriGene qSTAR qPCR primer pairs in human, mouse for SIL1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SIL1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIL1

    Additional mRNA 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):

    CF618918 BQ684380 BU539448 BQ683530 AL553399 CR617163 BU681627 CK818754 
    CR615501 AI685001 BM906234 AF547994 AL533390 AK075177 CR617127 AL545790 
    CB137198 BM966849 BU740282 BQ652370 CB137832 BM791331 BQ575912 CR617944 

    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)      SIL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGCCCGTGA
    SIL1 Expression
    About this image


    SIL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/26 selected tissues (see all 26) fully expand
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   
     
     Pancreas (Endocrine System)    fully expand to see all 3 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
             visceral organ/gut/foregut-midgut junction   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   

    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 8/17 species (see all 17)    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
    Uncharacterized protein
    57(a)
    1 ↔ 1
    1(131882753-131959086)
    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, 4UniProtKB, 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

    10/3950 SNPs in SIL1 are shown (see all 3950)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs667038431,2
    C--133530726(+) CAAGT-/AAAA  
            
    AAAAA
    2 -- int10--------
    rs780158031,2
    C--133565335(+) CTGAC-/GGTATT 2 -- int10--------
    rs675563381,2
    C--133635017(+) CTGTC-/TTTTTT 2 -- int11Minor allele frequency- T:0.00NA 2
    rs77375541,2
    C,F,A--133638087(+) tggaaT/Cagaaa 2 -- int13Minor allele frequency- C:0.33NA 6
    rs113022561,2
    C--133658298(+) CCTGC-/AAAAAA 2 -- int1 trp32Minor allele frequency- A:0.25NA CSA 4
    rs2000995961,2
    C--133660942(+) ACTAGA/CAAAAA 2 -- int10--------
    rs1113910731,2
    C,F--133665071(+) AAAAAC/TTAGTT 2 -- int12Minor allele frequency- T:0.04CSA WA 120
    rs349008311,2
    C--138284326(+) CCGCA-/TTGGCC 2 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs58716891,2
    C--138285487(+) AAAAAA/-GAAAA 2 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs2012180931,2
    --138289382(+) CCCCC-/CACGACT 2 -- int10--------

    HapMap Linkage Disequilibrium report for SIL1 (138282409 - 138532409 bp, first 250kb of SIL1)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SIL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv436490CNV Deletion17901297
    esv2672987CNV Deletion23128226
    esv2666199CNV Deletion23128226
    nsv5027CNV Insertion18451855
    dgv6340n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): SIL1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608005   
    OMIM disorders: 248800  
    UniProtKB/Swiss-Prot: SIL1_HUMAN, Q9H173
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/22 diseases for SIL1 (see all 22):    About MalaCards
    marinesco-sjogren-like syndrome    marinesco-sj??gren syndrome    sjogren's syndrome    dysphagia
    renal osteodystrophy    strabismus    ophthalmoplegia    cataract
    cerebellar ataxia    schistosomiasis    sickle cell disease    hypogonadism
    short stature    myopathy    ataxia    intrahepatic cholangiocarcinoma
    multiple myeloma    cholangiocarcinoma    myeloma    mental retardation

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

    SIL1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred 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
    GeneReviews: SIL1

    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 51):
    (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)
    About This Section
     ANDOR
    Aliases
    Disorders
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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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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