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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4654
Gene name	Myogenic differentiation 1
Gene symbol	MYOD1
Synonyms (NCBI Gene)	CMYO17CMYP17MYF3MYODMYODRIFPUMbHLHc1
Chromosome	11
Chromosome location	11p15.1
Summary	This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiati

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1179926739	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003570	hsa-miR-1-3p	Review	19815577
MIRT019143	hsa-miR-335-5p	Microarray	18185580
MIRT043226	hsa-miR-324-5p	CLASH	23622248
MIRT1170234	hsa-miR-1275	CLIP-seq
MIRT1170235	hsa-miR-29a	CLIP-seq
MIRT1170236	hsa-miR-29b	CLIP-seq
MIRT1170237	hsa-miR-29c	CLIP-seq
MIRT1170238	hsa-miR-3147	CLIP-seq
MIRT1170239	hsa-miR-3178	CLIP-seq
MIRT1170240	hsa-miR-320a	CLIP-seq
MIRT1170241	hsa-miR-320b	CLIP-seq
MIRT1170242	hsa-miR-320c	CLIP-seq
MIRT1170243	hsa-miR-320d	CLIP-seq
MIRT1170244	hsa-miR-329	CLIP-seq
MIRT1170245	hsa-miR-362-3p	CLIP-seq
MIRT1170246	hsa-miR-3689a-3p	CLIP-seq
MIRT1170247	hsa-miR-3689c	CLIP-seq
MIRT1170248	hsa-miR-3919	CLIP-seq
MIRT1170249	hsa-miR-4425	CLIP-seq
MIRT1170250	hsa-miR-4429	CLIP-seq
MIRT1170251	hsa-miR-4525	CLIP-seq
MIRT1170252	hsa-miR-4634	CLIP-seq
MIRT1170253	hsa-miR-4665-5p	CLIP-seq
MIRT1170254	hsa-miR-4723-5p	CLIP-seq
MIRT1170255	hsa-miR-4728-5p	CLIP-seq
MIRT1170256	hsa-miR-4756-3p	CLIP-seq
MIRT1170257	hsa-miR-625	CLIP-seq
MIRT1170255	hsa-miR-4728-5p	CLIP-seq
MIRT2454735	hsa-miR-3180	CLIP-seq
MIRT2454736	hsa-miR-3180-3p	CLIP-seq
MIRT2454737	hsa-miR-4258	CLIP-seq
MIRT2454738	hsa-miR-4277	CLIP-seq
MIRT2454739	hsa-miR-4713-5p	CLIP-seq
MIRT2454735	hsa-miR-3180	CLIP-seq
MIRT2454736	hsa-miR-3180-3p	CLIP-seq
MIRT2454737	hsa-miR-4258	CLIP-seq
MIRT2454738	hsa-miR-4277	CLIP-seq
MIRT2454739	hsa-miR-4713-5p	CLIP-seq
MIRT2454735	hsa-miR-3180	CLIP-seq
MIRT2454736	hsa-miR-3180-3p	CLIP-seq
MIRT2454737	hsa-miR-4258	CLIP-seq
MIRT2454738	hsa-miR-4277	CLIP-seq
MIRT2454739	hsa-miR-4713-5p	CLIP-seq

Show/Hide all (96)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	ISS
GO:0000791	Component	Euchromatin	IEA
GO:0000791	Component	Euchromatin	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	11076940
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	TAS	1846704
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001216	Function	DNA-binding transcription activator activity	IEA
GO:0001216	Function	DNA-binding transcription activator activity	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	11076940
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	10915743, 12887892, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	3175662
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	1846704
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006468	Process	Protein phosphorylation	TAS	3175662
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	TAS	1846704
GO:0007518	Process	Myoblast fate determination	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007519	Process	Skeletal muscle tissue development	TAS	3175662
GO:0007520	Process	Myoblast fusion	IEA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009888	Process	Tissue development	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0014902	Process	Myotube differentiation	IEA
GO:0014904	Process	Myotube cell development	IDA	10672515
GO:0014908	Process	Myotube differentiation involved in skeletal muscle regeneration	IEA
GO:0016922	Function	Nuclear receptor binding	IPI	9862959
GO:0019899	Function	Enzyme binding	IEA
GO:0030016	Component	Myofibril	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IBA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0042692	Process	Muscle cell differentiation	IEA
GO:0042693	Process	Muscle cell fate commitment	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043415	Process	Positive regulation of skeletal muscle tissue regeneration	IEA
GO:0043425	Function	BHLH transcription factor binding	IEA
GO:0043484	Process	Regulation of RNA splicing	IDA	10672515
GO:0043503	Process	Skeletal muscle fiber adaptation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045445	Process	Myoblast differentiation	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11076940
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IBA
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	IDA	10672515
GO:0051149	Process	Positive regulation of muscle cell differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0070888	Function	E-box binding	IEA
GO:0070888	Function	E-box binding	ISS
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	ISS
GO:0071453	Process	Cellular response to oxygen levels	IEA
GO:1901741	Process	Positive regulation of myoblast fusion	IDA	10672515
GO:1905382	Process	Positive regulation of snRNA transcription by RNA polymerase II	IEA
GO:1905382	Process	Positive regulation of snRNA transcription by RNA polymerase II	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	ISS
GO:2000818	Process	Negative regulation of myoblast proliferation	IEA

MIM	HGNC	e!Ensembl
159970	7611	ENSG00000129152

P15172

Protein name

Myoblast determination protein 1 (Class C basic helix-loop-helix protein 1) (bHLHc1) (Myogenic factor 3) (Myf-3)

Protein function

Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Ind

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01586	Basic	27 → 109	Myogenic Basic domain	Family
PF00010	HLH	110 → 161	Helix-loop-helix DNA-binding domain	Domain
PF12232	Myf5	191 → 259	Myogenic determination factor 5	Family

Sequence

MELLSPPLRDVDLTAPDGSLCSFATTDDFYDDPCFDSPDLRFFEDLDPRLMHVGALLKPE
EHSHFPAAVHPAPGAREDEHVRAPSGHHQAGRCLLWACKACKRKTTNADRRKAATMRERR
RLSKVNEAFETLKRCTSSNPNQRLPKVEILRNAIRYIEGLQALLRDQDAAPPGAAAAFYA
PGPLPPGRGGEHYSGDSDASSPRSNCSDGMMDYSGPPSGARRRNCYEGAYYNEAPSEPRP
GKSAAVSSLDCLSSIVERISTESPAAPALLLADVPSESPPRRQEAAAPSEGESSGDPTQS
PDAAPQCPAGANPNPIYQVL

Sequence length

320

Interactions

View interactions

	KEGG		Reactome
	Spinocerebellar ataxia		Myogenesis

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis multiplex congenita	Pathogenic	rs1179926739	RCV000855714
Autosomal dominant centronuclear myopathy	Pathogenic	rs1179926739	RCV000855714
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies	Pathogenic	rs1179926739, rs147517396, rs768652299	RCV001253807 RCV001253805 RCV001253806

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
MYOD1-related disorder	Likely benign; Benign	rs202101200, rs146220306, rs375842019, rs141519188, rs373565128, rs201495274, rs369966548, rs201759677	RCV003974212 RCV003931592 RCV003958922 RCV003976466 RCV003928509 RCV003955861 RCV003923075 RCV003968304

Show/Hide Text Mining Associations (65)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	27195289
Astrocytoma	Associate	15367334
Brachial Plexus Neuropathies	Associate	37055794
Breast Neoplasms	Associate	18628976
Carcinoma	Associate	24824843, 26501226, 27562493, 30181563, 32859634, 35452896, 37315267
Carcinoma Lobular	Associate	18628976
Carcinoma Renal Cell	Associate	27562493
Carcinoma Squamous Cell	Associate	33896245
Carotid Stenosis	Associate	20966410
Colitis Ulcerative	Associate	21830274
Critical Illness	Associate	30992050
Cryopyrin Associated Periodic Syndromes	Inhibit	37380094
Death Sudden Cardiac	Associate	18758635
Desmoplastic Small Round Cell Tumor	Associate	7495304
Diaphyseal medullary stenosis with malignant fibrous histiocytoma	Associate	12401825
Esophageal Neoplasms	Associate	22430803
Esotropia	Associate	34044792
Fibrosis	Associate	22319435
Frailty	Associate	28869034
Genetic Diseases Inborn	Associate	21266958
Head and Neck Neoplasms	Associate	22430803, 27688110
Helicobacter Infections	Associate	27259265
Hemoglobin SC Disease	Associate	34782706
Immunoglobulin G4 Related Disease	Associate	19299559, 23230269
Insulin Resistance	Associate	23404842
Leiomyosarcoma	Associate	28884746
Leprosy Paucibacillary	Associate	2260621
Leukemia Myeloid Acute	Associate	11313277
Lymphoma Large B Cell Diffuse	Associate	18288132
Malignant Teratocarcinosarcoma	Associate	30829729, 36719455, 37378830
Medulloblastoma	Associate	21148633
Melanoma	Associate	15526363
Muscle Neoplasms	Associate	19299559, 20110400, 28869034
Muscular Atrophy	Associate	23404842
Muscular Atrophy	Stimulate	35800215
Muscular Diseases	Associate	27651888
Muscular Dystrophies	Associate	18334989, 24396035
Muscular Dystrophy Duchenne	Associate	18334989, 21266958, 24396035, 30846748, 32359374, 33610829, 38282008, 8361505
Muscular Dystrophy Facioscapulohumeral	Associate	17013991, 23561550
Myasthenia Gravis	Associate	30696470
Myasthenic Syndromes Congenital	Associate	27286495
Myocardial Stunning	Associate	18758635
Myositis Inclusion Body	Associate	17077152
Myositis Inclusion Body	Inhibit	23058947
Myostatin related muscle hypertrophy	Associate	28869034
Myotonic Dystrophy	Associate	27286495, 36631509, 36767649
Neoplasms	Associate	15526363, 16435141, 1764365, 18288132, 19750229, 20980337, 22542536, 23230269, 25197361, 26501226, 28540987, 30181563, 31383960, 33318583, 33913590 View all (7 more)
Neuroblastoma	Associate	7495304
Neuroectodermal Tumors Primitive Peripheral	Associate	36913073
Neurofibrosarcoma	Associate	38178234
Obesity	Associate	23404842
Prostatic Neoplasms	Associate	20053773
Pulmonary Disease Chronic Obstructive	Associate	17573449, 24666540, 34831227
Pulmonary Disease Chronic Obstructive	Inhibit	19717478
Rhabdomyosarcoma	Associate	17468105, 1764365, 19299559, 20701800, 2260621, 23230269, 24824843, 27286495, 27562493, 30181563, 30975722, 32859634, 33627785, 33913590, 34285060 View all (7 more)
Rhabdomyosarcoma Alveolar	Associate	18487991, 21321994, 23733015, 23999248, 34782706
Rhabdomyosarcoma Embryonal	Associate	11272905, 19299559, 20701800, 23733015, 27562493, 27764816, 34782706, 9546368
Sarcoma	Associate	8160771
Sarcoma Ewing	Associate	2260621
Scoliosis	Associate	32815649
Trochlear Nerve Diseases	Associate	29843669
Tuberculosis Multidrug Resistant	Associate	20980337
Turner Syndrome	Associate	23761422
Uterine Cervical Neoplasms	Associate	29806603
Wilms Tumor	Associate	2260621

MYOD1 (myogenic differentiation 1)