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

SIM1 Gene

protein-coding   GIFtS: 57
GCID: GC06M100882

single-minded homolog 1 (Drosophila)

(Previous name: single-minded (Drosophila) homolog 1 )
 Explore 9 diseases affiliated with
SIM1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SIM1    

Aliases
for SIM1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Single-Minded Homolog 1 (Drosophila)1 2
BHLHe141
Class E Basic Helix-Loop-Helix Protein 142 3
Single-Minded (Drosophila) Homolog 11
Single-Minded Homolog 12
BHLHE143

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 GC06M100943 GC06M098275


Summaries
for SIM1 gene

(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 SIM1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences 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 plasmid: SIM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SIM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIM1


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

Entrez Gene cytogenetic band: 6q16.3-q21   Ensembl cytogenetic band:  6q16.3   HGNC cytogenetic band: 6q16.3-q21

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 GC06M100882:  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

Proteins
for SIM1 gene

(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: 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
Subcellular location: Nucleus (Potential)
Secondary accessions: Q5TDP7

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P81133

    • SIM1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005059.2  
    ENSEMBL proteins: 
     ENSP00000358210   ENSP00000262901  

    Human Recombinant Protein Products: 
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: SIM1
    OriGene Custom Protein Services for SIM1 
    GenScript Custom Purified and Recombinant Proteins Services for SIM1
    Novus Biologicals SIM1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SIM1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    SIM1 for ontologies           About GeneDecksing



    SIM1 Antibody Products: 
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    Novus Biologicals SIM1 Antibodies
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    Uscn Antibodies for SIM1
    Search ThermoFisher Antibodies for SIM1

    Assay Products for SIM1: 
    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
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    GenScript Custom Assay Services for SIM1
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    Uscn ELISAs and CLIAs for SIM1

    Protein Domains /
    Families
    for SIM1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SIM1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR001610 PAC
     IPR013767 PAS_fold
     IPR000014 PAS
     IPR011598 HLH_dom
     IPR010578 SIM_C

    Graphical View of Domain Structure for InterPro Entry P81133

    ProtoNet protein and cluster: P81133

    5/6 Blocks protein families (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


    Function
    for SIM1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIM1
    8 QIAGEN miScript miRNA 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 plasmid: SIM1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SIM1 (see all 7)
    OriGene shRNA RFP: SIM1
    OriGene siRNA: SIM1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIM1

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SIM1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Products:             		GenScript Custom overexpressing Cell Line Services for SIM1
    Search LifeMap BioReagents cell lines for SIM1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIM1

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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


    1 GenomeRNAi human phenotype for SIM1:
     Increased G1 DNA content 

    Animal Models:
         Mouse knock-outs for SIM1: Sim1tm1.1Az Sim1tm1Fan
         11 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Sim1):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  mortality/aging  nervous system  normal 
     renal/urinary system 

    SIM1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SIM1 gene

    (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
    1Transcription factors in neurogenesis
    		Transcription factors in neurogenesis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SIM1
        Transcription factors in neurogenesis




    SIM1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SIM1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SIM1 (P811333 ENSP000002629014) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARNTP275403, ENSP000003514074I2D: score=5 STRING: ENSP00000351407
    HSP90AA1P079003, ENSP000003351534I2D: score=2 STRING: ENSP00000335153
    ARNT2ENSP000003074794STRING: ENSP00000307479
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001657ureteric bud development IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007399nervous system development IEA--
    GO:0030154cell differentiation IEA--


    SIM1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SIM1 gene

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

    Browse Tocris compounds for SIM1
    Search CenterWatch for drugs/clinical trials and news about SIM1 

    Transcripts
    for SIM1 gene

    (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, 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 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:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIM1
    8 QIAGEN miScript miRNA 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 plasmid: SIM1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SIM1 (see all 7)
    OriGene shRNA RFP: SIM1
    OriGene siRNA: SIM1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIM1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SIM1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for SIM1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SIM1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIM1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SIM1

    Additional cDNA sequence: 

    AK308090.1 U70212.1 

    1 DOTS entry:

    DT.40121028 

    12 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    Expression
    for SIM1 gene

    (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

    SIM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTGTGATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SIM1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordV3 Neural Progenitor DomainV3 InterneuronsMotor Neurons
    Neural EctodermNeural PlateZona Limitans Intrathalamica CellsNeural Ectoderm
    KidneyUreteric BudUreteric Bud CellsKidney
    KidneyUreteric BudUreteric Bud Tip CellsKidney
    OvaryOvigerous CordOvarian Somatic CellsOvary
    BrainHypothalamusBrain
    KidneyRenal VesicleKidney
    KidneyS-shaped BodyKidney
    KidneyUreteric BudKidney
    Neural TubeDiencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    See SIM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIM1

    SOURCE GeneReport for Unigene cluster: Hs.520293
        SABiosciences Custom PCR Arrays for SIM1
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIM1

    Orthologs
    for SIM1 gene

    (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 animals.

    Orthologs for SIM1 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SIM11 single-minded homolog 1 (Drosophila) 83.31(n)
    91.76(a)    		   396129  XM_419817.2  XP_419817.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SIM16
    		 --
    		 90(a)
    		 1 ↔ 1
    		 1(171181823-171264057)
    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
    		 Helix-loop-helix 34
    		 29(a)
    		 possible ortholog
    		 V(13705963-13707347)


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

    Paralogs
    for SIM1 gene

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

    SIM1 for paralogs           About GeneDecksing



    Genomic Variants
    for SIM1 gene

    (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

    10/1309 NCBI SNPs in SIM1 are shown (see all 1309)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs4487611,2
    		F,--98275189(-) AATAAC/TATGGG 1 -- ds50011Minor allele frequency- T:0.03NA 120
    rs94973791,2
    		H--98275338(+) ACCCAG/TTACTC 1 -- ds5001 ese34Minor allele frequency- T:0.00NS EA 420
    rs747289331,2
    		C,F,--98276018(+) AACATT/GTTGCC 1 -- ut311Minor allele frequency- G:0.03WA 118
    rs791091001,2
    		C,--98276151(+) TTTTCG/AAACAC 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs413180371,2
    		C,F,--98276213(+) CTATTG/TGTCTT 1 -- ut311Minor allele frequency- T:0.02NA 120
    rs1145236041,2
    		C,F,--98276775(+) ATACCG/ACAGTT 1 -- ut311Minor allele frequency- A:0.03WA 118
    rs413180391,2
    		C,--98277037(+) CCCAGT/AAACTT 1 -- ut312Minor allele frequency- A:0.07NA 122
    rs558059971,2
    		C,F,--98277099(+) TTAAAC/TTATAA 1 -- ut313Minor allele frequency- T:0.01WA EU 1343
    rs131978411,2
    		H--98277479(+) ACTTAT/ACCGAG 2 /I /L mis14Minor allele frequency- A:0.00NS EA 406
    rs3738041,2
    		C,F,H,--98278111(+) AAGTTT/CATAAC 1 -- int15Minor allele frequency- C:0.02NS EA NA 540

    HapMap Linkage Disequilibrium report for SIM1 (100832891 - 100912805 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SIM1
         3 CNVs: 51773 51774 51772
    Human Gene Mutation Database (HGMD): SIM1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SIM1
    DNA2.0 Custom Variant and Variant Library Synthesis for SIM1

    Disorders / Diseases
    for SIM1 gene

    (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
    SIM1 for disorders           About GeneDecksing

    OMIM gene information: 603128   
    OMIM disorders: 601665  
    9 diseases for SIM1:    About MalaCards
    down syndrome    diffuse large b-cell lymphoma    b-cell lymphomas    morbid obesity
    obesity    obesity, association with    astrocytoma    schizophrenia
    neuronitis

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

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SIM1 (7 documents)

    Export disorders for SIM1 gene to outside databases

    Publications
    for SIM1 gene

    (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 9 sources (see all 31):
    (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. (1997)
    2. A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2. (PubMed id 14697214)1, 2, 9 Yamaki A.... Shimizu Y. (2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. 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. (2001)
    5. 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. (2006)
    6. Common Variation in SIM1 is Reproducibly Associated with Body Mass Index in Pima Indians. (PubMed id 19401419)1, 9 Traurig M....Baier L.J. (2009)
    7. Studies of the SIM1 gene in relation to human obesity and obesity-related traits. (PubMed id 16924270)1, 9 Hung C.C....Farooqi I.S. (2007)
    8. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. (PubMed id 10587584)1, 9 Holder J.L....Zinn A.R. (2000)
    9. Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome. (PubMed id 8812055)1, 9 Fan C.M....Tessier-Lavigne M. (1996)
    10. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. (PubMed id 12161602)1, 9 Faivre L....Vekemans M. (2002)

    External Searches for SIM1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing SIM1 gene

    (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

    Other Databases showing SIM1 gene

    (According to HUGE)
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    Specialized Databases showing SIM1 gene

    (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 SIM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SIM1

    Intellectual Property
    for SIM1 gene

    (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:
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