SIM1 - SIM bHLH transcription factor 1 Gene

Homo sapiens

Also known as bHLHe14

Gene ID: 6492 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-141438	SIM1	Inhibitor	99.57%	Unkown
HY-141438A	cis-SIM1		/	Unkown
HY-RS12922	SIM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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