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SIM1 - SIM bHLH transcription factor 1 Gene

Also Known as bHLHe14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6492

About SIM1

Cytogenetic location: 6q16.3 Genomic coordinates (GRCh38): 6:100,385,009-100,464,921 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues, 7 paralogues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 6.6) and fat (RPKM 0.4).

Summary

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]

SIM1 Products (2)

mRNA	Protein	Name
NM_001374769.1	NP_001361698.1	single-minded homolog 1
NM_005068.3	NP_005059.2	single-minded homolog 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SIM1 Protein Structure

HLH

PAS

PAS_3

SIM_C

0
200
400
600
766 a.a.

Protein Preferred Names	Protein Names
single-minded homolog 1	class E basic helix-loop-helix protein 14

SIM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SIM1	P81133	ARNT2	Homo sapiens	Q9HBZ2	Y2H Array	32296183
Intra	SIM1	P81133	ARNT2	Homo sapiens	Q9HBZ2	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Obesity Due To Sim1 Deficiency
Sim1-Related Prader-Willi-Like Syndrome	Sim1-Related Pwls
6q16 Microdeletion Syndrome	Del(6)(Q16) Monosomy 6q16 Prader-Willi-Like Syndrome Due To Microdeletion 6q16
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Leptin Deficiency Or Dysfunction	Morbid Obesity Obesity Due To Congenital Leptin Deficiency LEPD Congenital Leptin Deficiency Obesity, Morbid Obesity, Morbid, Due To Leptin Deficiency Severe Obesity Obesity, Morbid, Nonsyndromic 1 Leptin Deficiency Obesity, Severe, Due To Leptin Deficiency Leptin Morbid Obesity Due To Leptin Deficiency Obesity Morbid Leptin Dysfunction
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Pseudohypoparathyroidism, Type Ia	Albright'S Hereditary Osteodystrophy Albright Hereditary Osteodystrophy Pseudohypoparathyroidism Type 1a PHP1A Albright Hereditary Osteodystrophy With Multiple Hormone Resistance Pseudohypoparathyroidism Ia AHO Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy Pseudo-Pseudohypoparathyroidism Pseudohypoparathyroidism Type I A Php Ia Pseudopseudohypoparathyroidism Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance Pphp Pseudopseudo-Hypoparathyroidism Aho-Php Syndrome Ia Albright Hereditary Osteodystrophy-Php Syndrome Ia Pseudohypoparathyroidism 1a Pseudohypoparathyroidism
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-141438	SIM1	Degrader	99.47%	Unkown
HY-141438A	cis-SIM1	Control	/	Unkown
HY-RS12922	SIM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18152	Sim1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SIM1	VGNC	VGNC:46174
Bos taurus	SIM1	VGNC	VGNC:34623
Felis catus	SIM1	VGNC	VGNC:65147
Mus musculus	SIM1	MGD	MGI:98306
Macaca mulatta	SIM1	VGNC	VGNC:77217
Rattus norvegicus	SIM1	RGD	RGD:1309949
Others	SIM1	NCBI