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Aliases for SIM1 Gene

Aliases for SIM1 Gene

  • Single-Minded Family BHLH Transcription Factor 1 2 3 5
  • 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

Previous GeneCards Identifiers for SIM1 Gene

  • GC06M100704
  • GC06M100853
  • GC06M100882
  • GC06M100943
  • GC06M098275
  • GC06M100834

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 cognitive disability 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 Due To Sim1 Deficiency and Prader-Willi-Like Syndrome Due To A Point Mutation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and signal transducer activity. An important paralog of this gene is SIM2.

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

Additional gene information for SIM1 Gene

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

Genomics for SIM1 Gene

GeneHancer (GH) Regulatory Elements for SIM1 Gene

Promoters and enhancers for SIM1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I100460 Enhancer 1.1 ENCODE dbSUPER 550.8 +1.5 1476 5.4 PKNOX1 FEZF1 ZNF2 ZNF121 GLIS2 ZNF213 FOS RUNX3 KLF13 SP3 SIM1 ASCC3 LOC102724406 RPS3P5 GC06P100411
GH06I100493 Enhancer 0.6 ENCODE 11.3 -28.5 -28511 0.2 USF1 MNT ELF1 FOXA1 ZNF507 ZNF217 GATA3 CUX1 FOS FOSL2 SIM1 LOC102724406 RPS3P5 GC06P100503
GH06I100453 Enhancer 1.5 VISTA FANTOM5 ENCODE dbSUPER 2.3 +8.4 8421 6.4 ZNF202 PKNOX1 SUZ12 RNF2 BMI1 SP1 CBX8 PRDM6 POLR2A SMARCA4 ASCC3 LOC102724406 RPS3P5 SIM1 GC06P100411
GH06I100466 Enhancer 0.5 dbSUPER 0.8 -2.5 -2497 1.4 ZNF202 SUZ12 ZNF341 EZH2 ASCC3 LOC102724406 RPS3P5 SIM1 GC06P100503 GC06P100411
GH06I100479 Enhancer 0.7 ENCODE 0.4 -14.7 -14731 0.1 CTCF ESRRA ZNF2 THRB RAD21 CC2D1A ARID2 ZNF143 SMC3 RUNX3 SIM1 GC06P100503
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SIM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SIM1 gene promoter:

Genomic Locations for SIM1 Gene

Genomic Locations for SIM1 Gene
79,921 bases
Minus strand

Genomic View for SIM1 Gene

Genes around SIM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIM1 Gene

Proteins for SIM1 Gene

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

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

    Protein attributes for SIM1 Gene

    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

Post-translational modifications for SIM1 Gene

No Post-translational modifications

Other Protein References for SIM1 Gene

No data available for DME Specific Peptides for SIM1 Gene

Domains & Families for SIM1 Gene

Gene Families for SIM1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for SIM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

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.

Phenotypes From GWAS Catalog for SIM1 Gene

Gene Ontology (GO) - Molecular Function for SIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0003677 DNA binding IEA,TAS --
GO:0003700 DNA binding transcription factor activity TAS 8812055
GO:0046982 protein heterodimerization activity IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with SIM1: view
genes like me logo Genes that share phenotypes with SIM1: view

Human Phenotype Ontology for SIM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SIM1 Gene

MGI Knock Outs for SIM1:

Clone Products

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

Localization for SIM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIM1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SIM1 gene
Compartment Confidence
nucleus 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SIM1 Gene

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

Pathways & Interactions 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:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with SIM1: view

No data available for Pathways by source and SIGNOR curated interactions for SIM1 Gene

Drugs & Compounds for SIM1 Gene

No Compound Related Data Available

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:

Clone Products

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

No ASD Table

Relevant External Links for SIM1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SIM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x12.7), Adipose - Subcutaneous (x8.3), Pancreas (x5.0), and Brain - Hypothalamus (x4.9).

Protein differential expression in normal tissues from HIPED for SIM1 Gene

This gene is overexpressed in Heart (64.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SIM1 Gene

Protein tissue co-expression partners for SIM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SIM1 Gene:


SOURCE GeneReport for Unigene cluster for SIM1 Gene:


Evidence on tissue expression from TISSUES for SIM1 Gene

  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SIM1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with SIM1: view

No data available for mRNA Expression by UniProt/SwissProt for SIM1 Gene

Orthologs for SIM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SIM1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SIM1 33 34
  • 99.78 (n)
(Monodelphis domestica)
Mammalia SIM1 34
  • 94 (a)
(Canis familiaris)
Mammalia SIM1 33 34
  • 93.39 (n)
(Bos Taurus)
Mammalia SIM1 33 34
  • 92.38 (n)
(Ornithorhynchus anatinus)
Mammalia SIM1 34
  • 92 (a)
(Mus musculus)
Mammalia Sim1 33 16 34
  • 88.28 (n)
(Rattus norvegicus)
Mammalia Sim1 33
  • 87.84 (n)
(Gallus gallus)
Aves SIM1 33 34
  • 83.31 (n)
(Anolis carolinensis)
Reptilia SIM1 34
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sim1 33
  • 76.03 (n)
(Danio rerio)
Actinopterygii sim1a 33 34
  • 70.41 (n)
sim1b 34
  • 69 (a)
sim1 33
fruit fly
(Drosophila melanogaster)
Insecta sim 35 34
  • 67 (a)
(Caenorhabditis elegans)
Secernentea hlh-34 34
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
Species where no ortholog for SIM1 was found in the sources mined by GeneCards:
  • 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

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

Paralogs for SIM1 Gene

Paralogs for SIM1 Gene

(1) 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 Variation AA Info Type
rs114523604 likely-benign, Schaaf-yang syndrome 100,389,986(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs13201004 likely-benign, Schaaf-yang syndrome 100,388,908(-) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs138590764 uncertain-significance, Schaaf-yang syndrome 100,393,488(-) A/G coding_sequence_variant, intron_variant, synonymous_variant
rs1395119 benign, Schaaf-yang syndrome 100,390,013(-) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs145341368 uncertain-significance, Schaaf-yang syndrome 100,390,178(-) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2732482 CNV deletion 23290073
esv2732483 CNV deletion 23290073
esv2732485 CNV deletion 23290073
nsv1028122 CNV gain 25217958
nsv515895 CNV loss 19592680

Variation tolerance for SIM1 Gene

Residual Variation Intolerance Score: 7.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.02; 90.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIM1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIM1 Gene

Disorders for SIM1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SIM1 Gene - From: OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SIM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SIM1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SIM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 SE (Genome research 1997) 2 3 4 22 58
  2. Common variation in SIM1 is reproducibly associated with BMI in Pima Indians. (PMID: 19401419) Traurig M … Baier LJ (Diabetes 2009) 3 22 44 58
  3. Studies of the SIM1 gene in relation to human obesity and obesity-related traits. (PMID: 16924270) Hung CC … Farooqi IS (International journal of obesity (2005) 2007) 3 22 44 58
  4. A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2. (PMID: 14697214) Yamaki A … Shimizu Y (Biochemical and biophysical research communications 2004) 3 4 22 58
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58

Products for SIM1 Gene

Sources for SIM1 Gene

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