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 ... See more...

Aliases for SIM1 Gene

Aliases for SIM1 Gene

  • SIM BHLH Transcription Factor 1 2 3 5
  • BHLHe14 2 3 4
  • Single-Minded Family BHLH Transcription Factor 1 2 3
  • Class E Basic Helix-Loop-Helix Protein 14 3 4
  • Single-Minded Homolog 1 3 4
  • Single-Minded (Drosophila) Homolog 1 2
  • Single-Minded Homolog 1 (Drosophila) 2
  • BHLHE14 4
  • SIM1 5

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 (SIM BHLH Transcription Factor 1) is a Protein Coding gene. Diseases associated with SIM1 include Obesity Due To Sim1 Deficiency and Sim1-Related Prader-Willi-Like Syndrome. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and obsolete signal transducer activity. An important paralog of this gene is SIM2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SIM1 Gene

Genomics for SIM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SIM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J100460 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.7 +1.5 1476 5.4 BRCA1 RNF2 SP1 CTCF PRDM10 ZNF692 PRDM1 ZIC2 PKNOX1 POLR2A lnc-ASCC3-3 SIM1 ASCC3 ENSG00000228082 RPS3P5 lnc-ASCC3-4 MCHR2
GH06J100493 Enhancer 0.8 Ensembl ENCODE 11.3 -28.0 -27988 1.8 ZHX2 FOXA1 POLR2A YY1 USF1 ZNF217 CUX1 MBD2 GATA3 DPF2 SIM1 ENSG00000228082 ASCC3 RPS3P5 HSALNG0052234 lnc-PRDM13-10
GH06J100453 Enhancer 1.3 VISTA FANTOM5 ENCODE dbSUPER 2.3 +8.4 8421 6.4 RNF2 POLR2A EZH2 CBX2 BMI1 CBX8 ZNF202 PRDM6 SMARCA4 SP1 ASCC3 ENSG00000228082 RPS3P5 SIM1 lnc-ASCC3-3 lnc-ASCC3-4 MCHR2
GH06J100435 Enhancer 0.2 Ensembl 11 +29.5 29528 0.4 SIM1 lnc-ASCC3-3 SIM1-AS1 ENSG00000228082 lnc-ASCC3-4 MCHR2
GH06J100431 Enhancer 0.2 Ensembl 11 +32.6 32628 0.6 SIM1 lnc-ASCC3-3 SIM1-AS1 ENSG00000228082 lnc-ASCC3-4 MCHR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SIM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SIM1

Top Transcription factor binding sites by QIAGEN in the SIM1 gene promoter:
  • AP-4
  • CREB
  • E47
  • Evi-1
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-3
  • S8
  • Tal-1beta

Genomic Locations for SIM1 Gene

Genomic Locations for SIM1 Gene
chr6:100,385,009-100,464,929
(GRCh38/hg38)
Size:
79,921 bases
Orientation:
Minus strand
chr6:100,832,891-100,912,805
(GRCh37/hg19)
Size:
79,915 bases
Orientation:
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:
    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; forms a heterodimer with ARNT, ARNT2 (By similarity).

neXtProt entry for SIM1 Gene

Post-translational modifications for SIM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

Protein Domains for SIM1 Gene

InterPro:
Blocks:
  • PAS domain
  • Nuclear translocator signature
  • Basic helix-loop-helix dimerization domain bHLH
  • PAC motif
  • PAS fold-3
  • Single-minded, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for SIM1 Gene

GenScript: Design optimal peptide antigens:
  • Class E basic helix-loop-helix protein 14 (SIM1_HUMAN)
genes like me logo Genes that share domains with SIM1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SIM1 Gene

Function for SIM1 Gene

Molecular function for SIM1 Gene

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

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 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding TAS,IEA --
GO:0003700 DNA-binding transcription factor activity TAS 8812055
GO:0005515 protein binding IEA --
GO:0046982 protein heterodimerization activity ISS --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIM1

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

COMPARTMENTS
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 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 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:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with SIM1: view

Pathways & Interactions for SIM1 Gene

PathCards logo

SuperPathways for SIM1 Gene

No Data Available

SIGNOR curated interactions for SIM1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for SIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS,IEA --
genes like me logo Genes that share ontologies with SIM1: view

No data available for Pathways by source for SIM1 Gene

Drugs & Compounds for SIM1 Gene

No Compound Related Data Available

Transcripts for SIM1 Gene

mRNA/cDNA for SIM1 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIM1

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

No ASD Table

Relevant External Links for SIM1 Gene

GeneLoc Exon Structure for
SIM1

Expression for SIM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for SIM1 Gene



Protein tissue co-expression partners for SIM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SIM1

SOURCE GeneReport for Unigene cluster for SIM1 Gene:

Hs.520293

Evidence on tissue expression from TISSUES for SIM1 Gene

  • Nervous system(2.9)
  • Kidney(2.4)
  • Muscle(2.3)
  • Skin(2.2)
  • Blood(2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia SIM1 30 31
  • 99.78 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SIM1 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SIM1 30 31
  • 93.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SIM1 30 31
  • 92.38 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SIM1 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Sim1 30 17 31
  • 88.28 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sim1 30
  • 87.84 (n)
Chicken
(Gallus gallus)
Aves SIM1 30 31
  • 83.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SIM1 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sim1 30
  • 76.03 (n)
Zebrafish
(Danio rerio)
Actinopterygii sim1a 30 31
  • 70.41 (n)
OneToMany
sim1b 31
  • 69 (a)
OneToMany
sim1 30
Fruit Fly
(Drosophila melanogaster)
Insecta sim 31 32
  • 43 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hlh-34 31
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 62 (a)
OneToMany
Species where no ortholog for SIM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SIM1: view image

Paralogs for SIM1 Gene

Paralogs for SIM1 Gene

(1) SIMAP similar genes for SIM1 Gene using alignment to 2 proteins:

  • SIM1_HUMAN
  • L0R542_HUMAN
genes like me logo Genes that share paralogs with SIM1: view

Variants for SIM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SIM1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
713941 Likely Benign: not provided 100,390,869(-) G/C MISSENSE_VARIANT
724976 Likely Benign: not provided 100,390,730(-) A/G SYNONYMOUS_VARIANT
725739 Benign: not provided 100,393,659(-) G/A SYNONYMOUS_VARIANT
728950 Benign/Likely Benign: Obesity due to SIM1 deficiency; not provided 100,390,562(-) G/C SYNONYMOUS_VARIANT
732562 Likely Benign: not provided 100,448,470(-) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SIM1 Gene

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)
SIM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIM1

SNP Genotyping and Copy Number Assay Products

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

Disorders for SIM1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for SIM1 Gene - From: 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  2. Common variation in SIM1 is reproducibly associated with BMI in Pima Indians. (PMID: 19401419) Traurig M … Baier LJ (Diabetes 2009) 3 23 41
  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 23 41
  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 23
  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 41

Products for SIM1 Gene

Sources for SIM1 Gene