MYOD1 - myogenic differentiation 1 Gene
Also Known as PUM; MYF3; MYOD; bHLHc1; MYODRIF
Species: Homo sapiens
About MYOD1
This gene has 1 transcript (splice variant), 254 orthologues, 3 paralogues and is associated with 56 phenotypes. Low expression observed in reference dataset.
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 initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]
MYOD1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_002478.5 | NP_002469.2 | myoblast determination protein 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription activator activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
11076940 | GOA |
| enables RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
11076940 | GOA |
| enables nuclear receptor binding |
IPI
IPI: Inferred from physical interaction
|
9862959 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10915743 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in myotube cell development |
IDA
IDA: Inferred from direct assay
|
10672515 | GOA |
| involved in positive regulation of muscle cell differentiation |
IDA
IDA: Inferred from direct assay
|
10672515 | GOA |
| involved in positive regulation of myoblast fusion |
IDA
IDA: Inferred from direct assay
|
10672515 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
11076940 | GOA |
| involved in regulation of RNA splicing |
IDA
IDA: Inferred from direct assay
|
10672515 | GOA |
MYOD1 Protein Structure
Basic: Myogenic Basic domain (22 - 109)
HLH: Helix-loop-helix DNA-binding domain (110 - 161)
Myf5: Myogenic determination factor 5 (191 - 259)
- 0
- 100
- 200
- 300
- 320 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
myoblast determination protein 1 |
|
MYOD1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
MYOD1 | P15172 | IGFN1 | Homo sapiens | Q86VF2-5 | 32296183 | |
|
Intra
|
MYOD1 | P15172 | FIGLA | Homo sapiens | Q6QHK4 | 32296183 | |
|
Intra
|
MYOD1 | P15172 | LMO4 | Homo sapiens | P61968 | 32296183 | |
|
Intra
|
MYOD1 | P15172 | EXOC3L1 | Homo sapiens | Q86VI1 | 32296183 | |
|
Intra
|
MYOD1 | P15172 | AP1M1 | Homo sapiens | Q9BXS5 | 32296183 | |
|
Intra
|
MYOD1 | P15172 | TCF3 | Homo sapiens | P15923-1 | 10915743 |
MYOD1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81175 | MyoD1/Myf3 Antibody | WB, ELISA | Human, Mouse, Rat, Chicken |
| HY-P81746 | MyoD1/Myf3 Antibody (YA1491) | WB, IHC-P | Human |
| HY-P84108 | MyoD1/Myf3 Antibody (YA3805) | ICC/IF, FC, ELISA | Human |
| HY-P84108A | MyoD1/Myf3 Antibody (YA3805)(PBS only) | ICC/IF, FC, ELISA | Human |
| HY-P85968 | MyoD1/Myf3 Antibody (YA5660) | WB, IHC-P, ICC/IF, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
|
| Myopathy, Centronuclear, 1 |
|
|
| Distal Arthrogryposis |
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
|
| Alveolar Soft Part Sarcoma |
|
|
| Embryonal Rhabdomyosarcoma |
|
|
| Oculopharyngeal Muscular Dystrophy |
|
|
| Pleomorphic Rhabdomyosarcoma |
|
|
| Extraosseous Ewing Sarcoma |
|
|
| Skeletal Muscle Neoplasm |
|
|
| Malignant Fibrous Histiocytoma |
|
|
| Mesenchymal Chondrosarcoma |
|
|
| Rhabdomyosarcoma 2 |
|
|
| Spindle Cell Rhabdomyosarcoma |
|
|
| Spermatic Cord Cancer |
|
|
| Rhabdomyosarcoma |
|
|
| Rhabdoid Cancer |
|
|
| Muscle Hypertrophy |
|
|
| Retinoblastoma |
|
|
| Breast Rhabdomyosarcoma |
|
|
| Oral Rhabdomyosarcoma |
|
|
| Skeletal Muscle Cancer |
|
|
| Muscle Cancer |
|
|
| Botryoid Rhabdomyosarcoma |
|
|
| Epididymal Neoplasm |
|
|
| Progressive Relapsing Multiple Sclerosis |
|
|
| Malignant Triton Tumor |
|
|
| Myopathy |
|
|
| Inflammatory Leiomyosarcoma |
|
|
| Sarcoma |
|
|
| Muscular Dystrophy |
|
|
| Myotonic Dystrophy 1 |
|
|
| Pulmonary Vein Leiomyosarcoma |
|
|
| Prostate Rhabdomyosarcoma |
|
|
| Malignant Mesenchymoma |
|
|
| Parietal Lobe Neoplasm |
|
|
| Muscular Disease |
|
|
| Prostate Embryonal Rhabdomyosarcoma |
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
|
| Facioscapulohumeral Muscular Dystrophy 1 |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Pineal Region Teratoma |
|
|
| Conventional Fibrosarcoma |
|
|
| Muscle Tissue Disease |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Gallbladder Sarcoma |
|
|
| Ewing Sarcoma |
|
|
| Ectomesenchymoma |
|
|
| Central Nervous System Mesenchymal Non-Meningothelial Tumor |
|
|
| Prostate Sarcoma |
|
|
| Myoblastoma |
|
|
| Cervical Adenosarcoma |
|
|
| Gas Gangrene |
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
|
| Desmoplastic Small Round Cell Tumor |
|
|
| Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
|
| Muscular Dystrophy, Becker Type |
|
|
| Spindle Cell Sarcoma |
|
|
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
|
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
|
| Intravascular Fasciitis |
|
|
| Emery-Dreifuss Muscular Dystrophy |
|
|
| Myxofibrosarcoma |
|
|
| Pulmonary Artery Leiomyosarcoma |
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
|
| Orbit Rhabdomyosarcoma |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Sweeney-Cox Syndrome |
|
|
| Chondrosarcoma, Extraskeletal Myxoid |
|
|
| Prostate Stromal Sarcoma |
|
|
| Inflammatory Myofibroblastic Tumor |
|
|
| Medulloblastoma |
|
|
| Neuromuscular Disease |
|
|
| Wilms Tumor 1 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Peripheral Nervous System Disease |
|
|
| Dilated Cardiomyopathy |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | MYOD1 | VGNC | VGNC:31835 |
| Felis catus | MYOD1 | VGNC | VGNC:68404 |
| Mus musculus | MYOD1 | MGD | MGI:97275 |
| Rattus norvegicus | MYOD1 | RGD | RGD:631429 |
| Macaca mulatta | MYOD1 | VGNC | VGNC:75122 |
| Canis familiaris | MYOD1 | VGNC | VGNC:43578 |
| Others | MYOD1 | NCBI |