Human Gene MYOD1 (uc001mni.3) Description and Page Index
Description: Homo sapiens myogenic differentiation 1 (MYOD1), mRNA. RefSeq Summary (NM_002478): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X56677.1, X17650.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153307, SAMEA2162946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250003.4/ ENSP00000250003.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr11:17,741,110-17,743,678 Size: 2,569 Total Exon Count: 3 Strand: + Coding Region Position: hg19 chr11:17,741,330-17,743,055 Size: 1,726 Coding Exon Count: 3
ID:MYOD1_HUMAN DESCRIPTION: RecName: Full=Myoblast determination protein 1; AltName: Full=Class C basic helix-loop-helix protein 1; Short=bHLHc1; AltName: Full=Myogenic factor 3; Short=Myf-3; FUNCTION: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Activates muscle-specific promoters. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity). SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Seems to form active heterodimers with ITF-2. Interacts with SUV39H1 and CDK9. Interacts with DDX5 (By similarity). INTERACTION: P15923-1:TCF3; NbExp=2; IntAct=EBI-488878, EBI-769645; SUBCELLULAR LOCATION: Nucleus. PTM: Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation. PTM: Acetylated by a complex containing EP300 and PCAF. The acetylation is essential to activate target genes. Conversely, its deacetylation by SIRT1 inhibits its function (By similarity). PTM: Ubiquitinated on the N-terminus; which is required for proteasomal degradation. SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain. WEB RESOURCE: Name=Wikipedia; Note=MyoD entry; URL="http://en.wikipedia.org/wiki/MyoD";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): MYOD1 CDC HuGE Published Literature: MYOD1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P15172
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
LP895802 - Sequence 666 from Patent EP3253886. AK314968 - Homo sapiens cDNA, FLJ95884, highly similar to Homo sapiens myogenic factor 3 (MYOD1), mRNA. BC000353 - Homo sapiens cDNA clone IMAGE:2961494, **** WARNING: chimeric clone ****. DD153960 - New method. JD096789 - Sequence 77813 from Patent EP1572962. JD084715 - Sequence 65739 from Patent EP1572962. JD075892 - Sequence 56916 from Patent EP1572962. DD153961 - New method. JD470083 - Sequence 451107 from Patent EP1572962. JD317914 - Sequence 298938 from Patent EP1572962. JD445557 - Sequence 426581 from Patent EP1572962. X56677 - Human MyoD mRNA. JD174507 - Sequence 155531 from Patent EP1572962. BC064493 - Homo sapiens myogenic differentiation 1, mRNA (cDNA clone MGC:71135 IMAGE:5022419), complete cds. JD459143 - Sequence 440167 from Patent EP1572962. JD500355 - Sequence 481379 from Patent EP1572962. AB463907 - Synthetic construct DNA, clone: pF1KB7631, Homo sapiens MYOD1 gene for myogenic differentiation 1, without stop codon, in Flexi system. BT007157 - Homo sapiens myogenic factor 3 mRNA, complete cds. KJ891665 - Synthetic construct Homo sapiens clone ccsbBroadEn_01059 MYOD1 gene, encodes complete protein. JB759091 - Sequence 16 from Patent WO2013102203. X17650 - Human Myf-3 mRNA for myogenic determining factor 3'-fragment. JD380190 - Sequence 361214 from Patent EP1572962. JD146320 - Sequence 127344 from Patent EP1572962. JD139469 - Sequence 120493 from Patent EP1572962. JD466990 - Sequence 448014 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_MITRPathway - Signal Dependent Regulation of Myogenesis by Corepressor MITR h_hdacPathway - Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)