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Aliases for SIM1 Gene

Aliases for SIM1 Gene

  • Single-Minded Family BHLH Transcription Factor 1 2 3
  • Class E Basic Helix-Loop-Helix Protein 14 3 4
  • BHLHe14 3 4
  • Single-Minded (Drosophila) Homolog 1 2
  • Single-Minded Homolog 1 (Drosophila) 2
  • Single-Minded Homolog 1 3

External Ids for SIM1 Gene

Summaries for SIM1 Gene

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 6q16 deletion syndrome. 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 AHRR.

UniProtKB/Swiss-Prot for SIM1 Gene

  • Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult

Gene Wiki entry for SIM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIM1 Gene

Genomics for SIM1 Gene

Genomic Location for SIM1 Gene

Start:
100,385,015 bp from pter
End:
100,464,929 bp from pter
Size:
79,915 bases
Orientation:
Minus strand

Genomic View for SIM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIM1 Gene

Regulatory Elements for SIM1 Gene

Proteins for SIM1 Gene

  • Protein details for SIM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P81133-SIM1_HUMAN
    Recommended name:
    Single-minded homolog 1
    Protein Accession:
    P81133
    Secondary Accessions:
    • Q5TDP7

    Protein attributes for SIM1 Gene

    Size:
    766 amino acids
    Molecular mass:
    85515 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM1 and ARNT

neXtProt entry for SIM1 Gene

Proteomics data for SIM1 Gene at MOPED

Post-translational modifications for SIM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SIM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SIM1 Gene

Domains for SIM1 Gene

Gene Families for SIM1 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

UniProtKB/Swiss-Prot:

SIM1_HUMAN
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.:
    • P81133
  • Contains 1 PAC (PAS-associated C-terminal) domain.:
    • P81133
  • Contains 2 PAS (PER-ARNT-SIM) domains.:
    • P81133
  • Contains 1 Single-minded C-terminal domain.:
    • P81133
genes like me logo Genes that share domains with SIM1: view

Function for SIM1 Gene

Molecular function for SIM1 Gene

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

Gene Ontology (GO) - Molecular Function for SIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0004871 signal transducer activity IEA --
GO:0005515 protein binding --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with SIM1: view
genes like me logo Genes that share phenotypes with SIM1: view

Animal Models for SIM1 Gene

MGI Knock Outs for SIM1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SIM1 Gene

Localization for SIM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIM1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SIM1 Gene COMPARTMENTS Subcellular localization image for SIM1 gene
Compartment Confidence
nucleus 3
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with SIM1: view

Pathways for SIM1 Gene

SuperPathways for SIM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007165 signal transduction IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with SIM1: view

No data available for Pathways by source for SIM1 Gene

Transcripts for SIM1 Gene

mRNA/cDNA for SIM1 Gene

(4) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SIM1 Gene

Single-minded homolog 1 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SIM1 Gene

No ASD Table

Relevant External Links for SIM1 Gene

GeneLoc Exon Structure for
SIM1
ECgene alternative splicing isoforms for
SIM1

Expression for SIM1 Gene

mRNA expression in normal human tissues for SIM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIM1 Gene

This gene is overexpressed in Kidney - Cortex (12.7), Adipose - Subcutaneous (8.3), Pancreas (5.0), and Brain - Hypothalamus (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SIM1 Gene

SOURCE GeneReport for Unigene cluster for SIM1 Gene Hs.520293

genes like me logo Genes that share expressions with SIM1: view

Orthologs for SIM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SIM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIM1 36
  • 99.78 (n)
  • 99.61 (a)
SIM1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SIM1 36
  • 92.38 (n)
  • 97.13 (a)
SIM1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SIM1 36
  • 93.39 (n)
  • 98.69 (a)
SIM1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sim1 36
  • 88.28 (n)
  • 96.73 (a)
Sim1 16
Sim1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIM1 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIM1 37
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sim1 36
  • 87.84 (n)
  • 96.34 (a)
chicken
(Gallus gallus)
Aves SIM1 36
  • 83.31 (n)
  • 91.76 (a)
SIM1 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIM1 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sim1 36
  • 76.03 (n)
  • 85.83 (a)
zebrafish
(Danio rerio)
Actinopterygii sim1 36
sim1a 36
  • 70.41 (n)
  • 77.02 (a)
sim1a 37
  • 76 (a)
OneToMany
sim1b 37
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sim 37
  • 43 (a)
OneToMany
sim 38
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea hlh-34 37
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 62 (a)
OneToMany
Species with no ortholog for SIM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SIM1 Gene

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

Paralogs for SIM1 Gene

Selected SIMAP similar genes for SIM1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SIM1: view

Variants for SIM1 Gene

Sequence variations from dbSNP and Humsavar for SIM1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs189557 -- 100,453,961(-) GGATC(C/T)CCTAT intron-variant
rs241808 -- 100,452,632(-) CTTTC(C/T)AGCTC intron-variant
rs241809 -- 100,456,312(-) TGTGC(C/T)AGAGC intron-variant
rs241819 -- 100,462,922(-) AGCAC(C/T)GCCTA intron-variant
rs241820 -- 100,465,353(-) CGAAC(C/G)CTGCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SIM1 Gene

Variant ID Type Subtype PubMed ID
nsv515895 CNV Loss 19592680
esv2732482 CNV Deletion 23290073
esv2732483 CNV Deletion 23290073
esv2732485 CNV Deletion 23290073

Relevant External Links for SIM1 Gene

HapMap Linkage Disequilibrium report
SIM1
Human Gene Mutation Database (HGMD)
SIM1

Disorders for SIM1 Gene

(1) OMIM Diseases for SIM1 Gene (603128)

(1) University of Copenhagen DISEASES for SIM1 Gene

(2) Novoseek inferred disease relationships for SIM1 Gene

Disease -log(P) Hits PubMed IDs
obesity 45.1 16
down syndrome 30.9 1

Relevant External Links for SIM1

Genetic Association Database (GAD)
SIM1
Human Genome Epidemiology (HuGE) Navigator
SIM1
genes like me logo Genes that share disorders with SIM1: view

No data available for UniProtKB/Swiss-Prot for SIM1 Gene

Publications for SIM1 Gene

  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. (PMID: 9199934) Chrast R. … Antonarakis S.E. (Genome Res. 1997) 2 3 4 23
  2. A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2. (PMID: 14697214) Yamaki A. … Shimizu Y. (Biochem. Biophys. Res. Commun. 2004) 3 4 23
  3. Studies of the SIM1 gene in relation to human obesity and obesity-related traits. (PMID: 16924270) Hung C.C. … Farooqi I.S. (Int J Obes (Lond) 2007) 3 23 49
  4. Common variation in SIM1 is reproducibly associated with BMI in Pima Indians. (PMID: 19401419) Traurig M. … Baier L.J. (Diabetes 2009) 3 23 49
  5. SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake. (PMID: 16709610) Kublaoui B.M. … Zinn A.R. (Endocrinology 2006) 3 23

Products for SIM1 Gene

Sources for SIM1 Gene

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