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SIM1 Gene

protein-coding   GIFtS: 58
GCID: GC06M100834

Single-Minded Family BHLH Transcription Factor 1

(Previous names: single-minded (Drosophila) homolog 1, single-minded homolog...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Single-Minded Family BHLH Transcription Factor 11 2     Single-Minded Homolog 1 (Drosophila)1
Class E Basic Helix-Loop-Helix Protein 142 3     Single-Minded Homolog 12
bHLHe142 3     BHLHE143
Single-Minded (Drosophila) Homolog 11     

External Ids:    HGNC: 108821   Entrez Gene: 64922   Ensembl: ENSG000001122467   OMIM: 6031285   UniProtKB: P811333   

Export aliases for SIM1 gene to outside databases

Previous GC identifers: GC06M100704 GC06M100853 GC06M100882 GC06M100943 GC06M098275


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SIM1 Gene:
SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal
kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila
development and has peak levels of expression during the period of neurogenesis,it was proposed that the human
SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull
characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome. (provided by
RefSeq, Jul 2008)

GeneCards Summary for SIM1 Gene:
SIM1 (single-minded family bHLH transcription factor 1) is a protein-coding gene. Diseases associated with SIM1 include obesity, sim1-related, and prader-willi-like syndrome associated with chromosome 6. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and signal transducer activity. An important paralog of this gene is ARNT2.

UniProtKB/Swiss-Prot: SIM1_HUMAN, P81133
Function: Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult

Gene Wiki entry for SIM1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SIM1 gene promoter:
         HFH-3   AP-4   Tal-1beta   E47   Evi-1   CREB   FOXI1   S8   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSIM1 promoter sequence
   Search Chromatin IP Primers for SIM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SIM1


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

Entrez Gene cytogenetic band: 6q16.3   Ensembl cytogenetic band:  6q16.3   HGNC cytogenetic band: 6q16.3

SIM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIM1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M100834:  view genomic region     (about GC identifiers)

Start:
100,832,891 bp from pter      End:
100,912,805 bp from pter
Size:
79,915 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SIM1_HUMAN, P81133 (See protein sequence)
Recommended Name: Single-minded homolog 1  
Size: 766 amino acids; 85515 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM1 and ARNT
Secondary accessions: Q5TDP7

Explore the universe of human proteins at neXtProt for SIM1: NX_P81133

Explore proteomics data for SIM1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SIM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005059.2  
    ENSEMBL proteins: 
     ENSP00000358210   ENSP00000262901  

    SIM1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SIM1

    SIM1 Antibody Products:

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    Novus Biologicals SIM1 Antibodies
    Abcam antibodies for SIM1
    Cloud-Clone Corp. Antibodies for SIM1
    Search ThermoFisher Antibodies for SIM1
    LSBio Antibodies in human, mouse, rat for SIM1

    SIM1 Assay Products:

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    Cloud-Clone Corp. ELISAs for SIM1
    Cloud-Clone Corp. CLIAs for SIM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    Selected InterPro protein domains (see all 6):
     IPR010578 SIM_C
     IPR013655 PAS_fold_3
     IPR001610 PAC
     IPR013767 PAS_fold
     IPR000014 PAS

    Graphical View of Domain Structure for InterPro Entry P81133

    ProtoNet protein and cluster: P81133

    Selected Blocks protein domains (see all 6):
    IPB000014 PAS domain
    IPB001067 Nuclear translocator signature
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB001610 PAC motif
    IPB010578 Single-minded


    UniProtKB/Swiss-Prot: SIM1_HUMAN, P81133
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
    Similarity: Contains 2 PAS (PER-ARNT-SIM) domains
    Similarity: Contains 1 Single-minded C-terminal domain


    SIM1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SIM1_HUMAN, P81133
    Function: Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult

         Genatlas biochemistry entry for SIM1:
    Drosophila master regulator of fruit fly midline neurogenesis,single-minded 1 homolog,mouse Sim1
    ortholog,expressed in developing kidney and central nervous system and playing an essential role for formation of
    the supraoptic and paraventricular(PVN) nuclei of the hypothalamus,PVN implicated in the regulation of body
    weight,disrupted by a translocation in a patient with profound obesity

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding ----
    GO:0046982protein heterodimerization activity IEA--
         
    SIM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SIM1:
     Increased G1 DNA content 

         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Sim1):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  mortality/aging  nervous system  normal 
     renal/urinary system 

    SIM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SIM1: Sim1tm1.1Az Sim1tm1Fan

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SIM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SIM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SIM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SIM1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SIM1 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate SIM1:
    hsa-miR-3130-5p hsa-miR-4307 hsa-miR-3146 hsa-miR-449c* hsa-miR-3133 hsa-miR-3692 hsa-miR-138 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidSIM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SIM1
    Predesigned siRNA for gene silencing in human, mouse, rat SIM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SIM1

    Clone
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    OriGene clones in human, mouse for SIM1 (see all 5)
    OriGene ORF clones in mouse, rat for SIM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SIM1 (NM_005068)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIM1

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SIM1_HUMAN, P81133: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    SIM1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SIM1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SIM1
    Interactions:

        GeneGlobe Interaction Network for SIM1

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

    Selected Interacting proteins for SIM1 (P811333 ENSP000002629014) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARNTP275403, ENSP000003514074I2D: score=5 STRING: ENSP00000351407
    HSP90AA1P079003, ENSP000003351534I2D: score=2 STRING: ENSP00000335153
    AEBP2ENSP000003818404STRING: ENSP00000381840
    SLIT1ENSP000002660584STRING: ENSP00000266058
    SLIT2ENSP000002737394STRING: ENSP00000273739
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001657ureteric bud development IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007165signal transduction ----
    GO:0007399nervous system development IEA--

    SIM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SIM1



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SIM1 gene: 
    NM_005068.2  

    Unigene Cluster for SIM1:

    Single-minded homolog 1 (Drosophila)
    Hs.520293  [show with all ESTs]
    Unigene Representative Sequence: U70212
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369208(uc003pqj.4 uc021zdg.1 uc010kcu.3) ENST00000505753
    ENST00000511871 ENST00000262901
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SIM1 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate SIM1:
    hsa-miR-3130-5p hsa-miR-4307 hsa-miR-3146 hsa-miR-449c* hsa-miR-3133 hsa-miR-3692 hsa-miR-138 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidSIM1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SIM1
    Predesigned siRNA for gene silencing in human, mouse, rat SIM1
    Clone
    Products:
         
    OriGene clones in human, mouse for SIM1 (see all 5)
    OriGene ORF clones in mouse, rat for SIM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SIM1 (NM_005068)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIM1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SIM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SIM1
      QuantiTect SYBR Green Assays in human, mouse, rat SIM1
      QuantiFast Probe-based Assays in human, mouse, rat SIM1

    Additional mRNA sequence: 

    AK308090.1 U70212.1 

    1 DOTS entry:

    DT.40121028 

    12 AceView cDNA sequences:

    CK905539 BM506747 NM_005068 BU788005 CK905540 BU784335 AL598103 BX499548 
    U70212 BP872172 BE465451 BM507096 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SIM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGTGATA
    SIM1 Expression
    About this image


    SIM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Thalamus
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Ureteric Bud
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Zona Limitans Intrathalamica Cells Neural Plate
             Diencephalon
     
     Ovary (Reproductive System)
             Ovarian Somatic Cells Ovigerous Cord
     
     Neural Ectoderm (Nervous System)
             Zona Limitans Intrathalamica Cells Neural Plate
    SIM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SIM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520293
        Custom PCR Arrays for SIM1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIM1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SIM1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sim11 , 5 single-minded homolog 1 (Drosophila)1, 5 88.28(n)1
    96.73(a)1
      10 (24.87 cM)5
    204641  NM_011376.31  NP_035506.21 
     508956515 
    chicken
    (Gallus gallus)
    Aves SIM11 single-minded homolog 1 (Drosophila) 83.31(n)
    91.76(a)
      396129  XM_004940356.1  XP_004940413.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIM16
    single-minded family bHLH transcription factor 1
    90(a)
    1 ↔ 1
    1(171178018-171266903)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sim11 single-minded homolog 1 (Drosophila) 76.03(n)
    85.83(a)
      100486719  XM_004914545.1  XP_004914602.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sim12 single-minded homolog 1 (Drosophila) 73.19(n)   260351  AY028626.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sim3 adult walking behavior transcription
    factor
    67(a)   3 87D11   --
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-346
    Protein HLH-34 (hlh-34) mRNA, complete cds
    29(a)
    1 → many
    V(13705975-13707360) WBGene00011327


    ENSEMBL Gene Tree for SIM1 (if available)
    TreeFam Gene Tree for SIM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SIM1 gene
    ARNT22  CLOCK2  NPAS22  AHR2  ARNT2  EPAS12  NPAS32  HIF1A2  
    SIM22  HIF3A2  ARNTL2  NPAS12  ARNTL22  AHRR2  
    1 SIMAP similar gene for SIM1 using alignment to 2 protein entries:     SIM1_HUMAN (see all proteins):
    SIM2

    SIM1 for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SIM1 (see all 1566)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30687491,2
    C--98324393(+) AAAAA-/AC/CA 
            
    ATATT
    1 -- int10--------
    rs3742529551,2
    C--98337469(+) CACTG-/TCTC  
            
    TCTCT
    1 -- int10--------
    rs4487611,2
    C,F--100834954(-) AATAAC/TATGGG 1 -- ds50011Minor allele frequency- T:0.03NA 120
    rs1440139721,2
    --100835023(+) TTACTC/TGCACT 1 -- ds50010--------
    rs94973791,2
    H--100835103(+) ACCCAG/TTACTC 1 -- ds5001 ese34Minor allele frequency- T:0.00NS EA 420
    rs1144970131,2
    F--100835138(+) GTCACC/TTACCT 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs170604801,2
    C,F,H--100835314(+) ATGAAA/TTCTCT 1 -- ds500112Minor allele frequency- T:0.36NA NS EA CSA 805
    rs132010041,2
    C,F,H--100835462(+) GGAGCC/ACACAC 1 -- ut31 ese320Minor allele frequency- A:0.10NS EA NA WA 2346
    rs1839424281,2
    --100835475(+) CTGCTG/TAAGTC 1 -- ut310--------
    rs747289331,2
    C,F--100835783(+) AACATT/GTTGCC 1 -- ut311Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for SIM1 (100832891 - 100912805 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SIM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2732483CNV Deletion23290073
    esv2732482CNV Deletion23290073
    esv2732485CNV Deletion23290073
    nsv515895CNV Loss19592680

    Human Gene Mutation Database (HGMD): SIM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SIM1
    DNA2.0 Custom Variant and Variant Library Synthesis for SIM1

    (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.)
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    OMIM gene information: 603128   
    OMIM disorders: 601665  
    18 diseases for SIM1:    
    About MalaCards
    obesity, sim1-related    prader-willi-like syndrome associated with chromosome 6    obesity due to sim1 deficiency    6q16 deletion syndrome
    morbid obesity    prader-willi-like syndrome    down syndrome    obesity, association with
    obesity    mental retardation    diffuse large b-cell lymphoma    b-cell lymphomas
    astrocytoma    schizophrenia    hypoxia    malaria
    neuronitis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for SIM1:
    Morbid obesity

    SIM1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SIM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 45.1 21 16709610 (5), 16924270 (3), 19401419 (2), 10587584 (2) (see all 7)
    down syndrome 30.9 1 8812055 (1)

    Genetic Association Database (GAD): SIM1
    Human Genome Epidemiology (HuGE) Navigator: SIM1 (7 documents)

    Export disorders for SIM1 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)
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    PubMed articles for SIM1 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with SIM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region. (PubMed id 9199934)1, 2, 3, 9 Chrast R.... Antonarakis S.E. (Genome Res. 1997)
    2. Common variation in SIM1 is reproducibly associated with BMI in Pima Indians. (PubMed id 19401419)1, 4, 9 Traurig M....Baier L.J. (Diabetes 2009)
    3. Studies of the SIM1 gene in relation to human obesity and obesity-related traits. (PubMed id 16924270)1, 4, 9 Hung C.C....Farooqi I.S. (Int J Obes (Lond) 2007)
    4. A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2. (PubMed id 14697214)1, 2, 9 Yamaki A.... Shimizu Y. (Biochem. Biophys. Res. Commun. 2004)
    5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    6. Analysis of the SIM1 contribution to polygenic obesity in the French population. (PubMed id 20075856)1, 4 Ghoussaini M....Meyre D. (Obesity (Silver Spring) 2010)
    7. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PubMed id 19054571)1, 4 GregA^rio S.P....Dias-Neto E. (Psychiatry Res 2009)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    9. Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus. (PubMed id 11448938)1, 3 Michaud J.L....Fan C.M. (Hum. Mol. Genet. 2001)
    10. SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake. (PubMed id 16709610)1, 9 Kublaoui B.M....Zinn A.R. (Endocrinology 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6492 HGNC: 10882 AceView: SIM1 Ensembl:ENSG00000112246 euGenes: HUgn6492
    ECgene: SIM1 H-InvDB: SIM1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SIM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SIM1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SIM1 gene:
    Search GeneIP for patents involving SIM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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