Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	6492
Gene name	SIM bHLH transcription factor 1
Gene symbol	SIM1
Synonyms (NCBI Gene)	bHLHe14
Chromosome	6
Chromosome location	6q16.3
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 leve

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs145361258	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1064795024	T>C	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT636241	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT636240	hsa-miR-3152-3p	HITS-CLIP	23824327
MIRT636239	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT636238	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT636237	hsa-miR-4455	HITS-CLIP	23824327
MIRT636236	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT636241	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT636240	hsa-miR-3152-3p	HITS-CLIP	23824327
MIRT636239	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT636238	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT636237	hsa-miR-4455	HITS-CLIP	23824327
MIRT636236	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT636240	hsa-miR-3152-3p	HITS-CLIP	27418678
MIRT636240	hsa-miR-3152-3p	HITS-CLIP	27418678
MIRT636240	hsa-miR-3152-3p	HITS-CLIP	27418678
MIRT636239	hsa-miR-374a-5p	HITS-CLIP	27418678
MIRT636239	hsa-miR-374a-5p	HITS-CLIP	27418678
MIRT636239	hsa-miR-374a-5p	HITS-CLIP	27418678
MIRT636238	hsa-miR-374b-5p	HITS-CLIP	27418678
MIRT636238	hsa-miR-374b-5p	HITS-CLIP	27418678
MIRT636238	hsa-miR-374b-5p	HITS-CLIP	27418678
MIRT636237	hsa-miR-4455	HITS-CLIP	27418678
MIRT636237	hsa-miR-4455	HITS-CLIP	27418678
MIRT636237	hsa-miR-4455	HITS-CLIP	27418678
MIRT636237	hsa-miR-4455	HITS-CLIP	27418678
MIRT636236	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT636236	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT636236	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT636236	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT636241	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT636241	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT636241	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT636241	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT636241	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT636240	hsa-miR-3152-3p	HITS-CLIP	23824327
MIRT636239	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT636238	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT636237	hsa-miR-4455	HITS-CLIP	23824327
MIRT636236	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT636241	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT636240	hsa-miR-3152-3p	HITS-CLIP	23824327
MIRT636239	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT636238	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT636237	hsa-miR-4455	HITS-CLIP	23824327
MIRT636236	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT1349419	hsa-miR-1271	CLIP-seq
MIRT1349420	hsa-miR-218	CLIP-seq
MIRT1349421	hsa-miR-455-5p	CLIP-seq
MIRT1349422	hsa-miR-636	CLIP-seq
MIRT1349423	hsa-miR-96	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001657	Process	Ureteric bud development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8812055
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8812055, 9199934
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	9199934
GO:0030154	Process	Cell differentiation	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048731	Process	System development	IEA

MIM	HGNC	e!Ensembl
603128	10882	ENSG00000112246

P81133

Protein name

Single-minded homolog 1 (Class E basic helix-loop-helix protein 14) (bHLHe14)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	2 → 52	Helix-loop-helix DNA-binding domain	Domain
PF00989	PAS	79 → 167	PAS fold	Domain
PF08447	PAS_3	242 → 329	PAS fold	Domain
PF06621	SIM_C	359 → 669	Single-minded protein C-terminus	Family

Sequence

MKEKSKNAARTRREKENSEFYELAKLLPLPSAITSQLDKASIIRLTTSYLKMRVVFPEGL
GEAWGHSSRTSPLDNVGRELGSHLLQTLDGFIFVVAPDGKIMYISETASVHLGLSQVELT
GNSIYEYIHPADHDEMTAVLTAHQPYHSHFVQEYEIERSFFLRMKCVLAKRNAGLTCGGY
KVIHCSGYLKIRQYSLDMSPFDGCYQNVGLVAVGHSLPPSAVTEIKLHSNMFMFRASLDM
KLIFLDSRVAELTGYEPQDLIEKTLYHHVHGCDTFHLRCAHHLLLVKGQVTTKYYRFLAK
HGGWVWVQSYATIVHNSRSSRPHCIVSVNYVLTDTEYKGLQLSLDQISASKPAFSYTSSS
TPTMTDNRKGAKSRLSSSKSKSRTSPYPQYSGFHTERSESDHDSQWGGSPLTDTASPQLL
DPADRPGSQHDASCAYRQFSDRSSLCYGFALDHSRLVEERHFHTQACEGGRCEAGRYFLG
TPQAGREPWWGSRAALPLTKASPESREAYENSMPHIASVHRIHGRGHWDEDSVVSSPDPG
SASESGDRYRTEQYQSSPHEPSKIETLIRATQQMIKEEENRLQLRKAPSDQLASINGAGK
KHSLCFANYQQPPPTGEVCHGSALANTSPCDHIQQREGKMLSPHENDYDNSPTALSRISS
PNSDRISKSSLILAKDYLHSDISPHQTAGDHPTVSPNCFGSHRQYFDKHAYTLTGYALEH
LYDSETIRNYSLGCNGSHFDVTSHLRMQPDPAQGHKGTSVIITNGS

Sequence length

766

Interactions

View interactions

198

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Brachydactyly	Likely pathogenic	rs1057518333	RCV001249456
Obesity due to SIM1 deficiency	Pathogenic	rs2114540946	RCV002273359
SIM1-associated metabolic syndrome	Likely pathogenic	rs2482134518	RCV002468461
SIM1-related disorder	Likely pathogenic	rs772202157	RCV001269255

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Microcephaly	Uncertain significance	rs762042848	RCV001252816
Monogenic diabetes	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs74726213, rs1486871541, rs138546433, rs141415931, rs532142781, rs150382307, rs137870558	RCV001174498 RCV000664102 RCV001174379 RCV001174376 RCV001174499 RCV001174377 RCV001174378
Obesity	Uncertain significance	rs2114540224	RCV001706813
Obesity with Prader-Willi like phenotype	Uncertain significance	rs1403566831	RCV002468410
Oromandibular-limb hypogenesis spectrum	Conflicting classifications of pathogenicity; Benign	rs74726213, rs146866401	RCV000240299 RCV000240578
Ovarian serous cystadenocarcinoma	Benign	rs13201004	RCV005899020
Schaaf-Yang syndrome	Uncertain significance	rs886060892, rs886060897, rs146022425, rs886060891	RCV000309217 RCV000303368 RCV000269537 RCV000344231
See cases	Uncertain significance	rs1185696205	RCV001195876
SIM1-related obesity	Uncertain significance	rs774538591	RCV003228645

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	39201344
Cognition Disorders	Associate	25234154
Developmental Disabilities	Associate	25234154
Diabetes Insipidus	Associate	40428410
Fatty Liver	Associate	40428410
Food Addiction	Associate	25234154
Hypercholesterolemia	Associate	40428410
Hyperinsulinism	Associate	40428410
Hyperphagia	Associate	40428410
Muscle Hypotonia	Associate	25234154
Neoplasms Adipose Tissue	Associate	21512513
Obesity	Associate	19401419, 20075856, 21512513, 23778136, 23778139, 25234154, 25351778, 30991789, 37329217, 40428410
Overweight	Associate	25234154
Prader Willi Syndrome	Associate	25351778
Schaaf Yang syndrome	Associate	23778136
Seizures	Inhibit	23778139

SIM1 (SIM bHLH transcription factor 1)