MYOD1 (myogenic differentiation 1)

Gene

• Entrez ID: 4654
• Gene name: Myogenic differentiation 1
• Gene symbol: MYOD1
• Synonyms: CMYO17, CMYP17, MYF3, MYOD, MYODRIF, PUM, bHLHc1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	ISS
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	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001102	Function	RNA polymerase II activating transcription factor binding	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	11076940
GO:0003682	Function	Chromatin binding	ISS
GO:0005515	Function	Protein binding	IPI	10915743, 12887892, 32296183
GO:0005634	Component	Nucleus	TAS	3175662
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006468	Process	Protein phosphorylation	TAS	3175662
GO:0007517	Process	Muscle organ development	TAS	1846704
GO:0007518	Process	Myoblast fate determination	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:0014904	Process	Myotube cell development	IDA	10672515
GO:0014908	Process	Myotube differentiation involved in skeletal muscle regeneration	IEA
GO:0030016	Component	Myofibril	IEA
GO:0031490	Function	Chromatin DNA binding	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0035257	Function	Nuclear hormone receptor binding	IPI	9862959
GO:0035562	Process	Negative regulation of chromatin binding	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IBA	21873635
GO:0042693	Process	Muscle cell fate commitment	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043415	Process	Positive regulation of skeletal muscle tissue regeneration	IEA
GO:0043484	Process	Regulation of RNA splicing	IDA	10672515
GO:0043503	Process	Skeletal muscle fiber adaptation	IEA
GO:0043966	Process	Histone H3 acetylation	ISS
GO:0043967	Process	Histone H4 acetylation	ISS
GO:0045663	Process	Positive regulation of myoblast differentiation	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11076940
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048743	Process	Positive regulation of skeletal muscle fiber development	IBA	21873635
GO:0051099	Process	Positive regulation of binding	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	IDA	10672515
GO:0051149	Process	Positive regulation of muscle cell differentiation	TAS
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	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	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990841	Function	Promoter-specific chromatin binding	ISS
GO:2000818	Process	Negative regulation of myoblast proliferation	IEA

Other IDs

• MIM: 159970
• HGNC: 7611
• e!Ensembl: ENSG00000129152

Protein

• UniProt ID: 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

Pathways

KEGG:

Spinocerebellar ataxia

Reactome:

Myogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Akinesia	Akinesia	rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335, rs751889864, rs559933584, rs761899995, rs797045528, rs551423795, rs886037842, rs560525099, rs775583136, rs1349476281, rs794727884, rs1479498379, rs1555142142, rs1558010146, rs1558003446, rs1554757237, rs770987150, rs768892432, rs1558008455, rs1560224831, rs1558005340, rs747595523, rs1567568217, rs774070092, rs776532930, rs765096923, rs1560200925, rs201947904, rs1595903667, rs376573993, rs778172294, rs759488854, rs761584017, rs769850502
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591	21258934
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Rhabdomyosarcoma	Rhabdomyosarcoma	rs137854557, rs121909224, rs63751466, rs11540652, rs28934874, rs104894229, rs104894230, rs267606708, rs80357867, rs276174889, rs80359011, rs80358556, rs80359391, rs80357989, rs886037650, rs886037651, rs201744589, rs587780067, rs587781462, rs587782144, rs55863639, rs768638173, rs864622639, rs875989784, rs876657714, rs878855246, rs199474742, rs879253942, rs886037721, rs1057519989, rs750380279, rs1131691211, rs1202793339, rs1567611375
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophy	Generalized amyotrophy
Posterolateral diaphragmatic hernia	Congenital hernia of foramen of Bochdalek		21258934
Morgagni diaphragmatic hernia	Congenital hernia of foramen of Morgagni		21258934
Pulmonary hypoplasia	Congenital hypoplasia of lung	rs1569032634
Dandy-walker syndrome	Dandy-Walker Syndrome
Embryonal rhabdomyosarcoma	Embryonal Rhabdomyosarcoma		24793135
Fetal akinesia deformation sequence	Fetal akinesia deformation sequence
Cystic hygroma	Lymphangioma, Cystic
Malignant neoplasm	Malignant Neoplasms
Micrognathism	Micrognathism
Pena shokeir syndrome	Pena-Shokeir syndrome type I		26733463
Posteriorly rotated ear	Posteriorly rotated ear
Pterygium	Pterygium