KEGG   Homo sapiens (human): 4654
Entry
4654              CDS       T01001                                 

Gene name
MYOD1, MYF3, MYOD, MYODRIF, PUM, bHLHc1
Definition
(RefSeq) myogenic differentiation 1
  KO
K09064  myogenic factor 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H01810  Congenital myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    4654 (MYOD1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    4654 (MYOD1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix (bHLH)
   Myogenic transcription factors
    4654 (MYOD1)
Motif
Pfam: Basic Myf5 HLH
Other DBs
NCBI-GeneID: 4654
NCBI-ProteinID: NP_002469
OMIM: 159970
HGNC: 7611
Ensembl: ENSG00000129152
Vega: OTTHUMG00000166358
Pharos: P15172(Tbio)
UniProt: P15172
Position
11p15.1
AA seq 320 aa
MELLSPPLRDVDLTAPDGSLCSFATTDDFYDDPCFDSPDLRFFEDLDPRLMHVGALLKPE
EHSHFPAAVHPAPGAREDEHVRAPSGHHQAGRCLLWACKACKRKTTNADRRKAATMRERR
RLSKVNEAFETLKRCTSSNPNQRLPKVEILRNAIRYIEGLQALLRDQDAAPPGAAAAFYA
PGPLPPGRGGEHYSGDSDASSPRSNCSDGMMDYSGPPSGARRRNCYEGAYYNEAPSEPRP
GKSAAVSSLDCLSSIVERISTESPAAPALLLADVPSESPPRRQEAAAPSEGESSGDPTQS
PDAAPQCPAGANPNPIYQVL
NT seq 963 nt   +upstreamnt  +downstreamnt
atggagctactgtcgccaccgctccgcgacgtagacctgacggcccccgacggctctctc
tgctcctttgccacaacggacgacttctatgacgacccgtgtttcgactccccggacctg
cgcttcttcgaagacctggacccgcgcctgatgcacgtgggcgcgctcctgaaacccgaa
gagcactcgcacttccccgcggcggtgcacccggccccgggcgcacgtgaggacgagcat
gtgcgcgcgcccagcgggcaccaccaggcgggccgctgcctactgtgggcctgcaaggcg
tgcaagcgcaagaccaccaacgccgaccgccgcaaggccgccaccatgcgcgagcggcgc
cgcctgagcaaagtaaatgaggcctttgagacactcaagcgctgcacgtcgagcaatcca
aaccagcggttgcccaaggtggagatcctgcgcaacgccatccgctatatcgagggcctg
caggctctgctgcgcgaccaggacgccgcgccccctggcgccgcagccgccttctatgcg
ccgggcccgctgcccccgggccgcggcggcgagcactacagcggcgactccgacgcgtcc
agcccgcgctccaactgctccgacggcatgatggactacagcggccccccgagcggcgcc
cggcggcggaactgctacgaaggcgcctactacaacgaggcgcccagcgaacccaggccc
gggaagagtgcggcggtgtcgagcctagactgcctgtccagcatcgtggagcgcatctcc
accgagagccctgcggcgcccgccctcctgctggcggacgtgccttctgagtcgcctccg
cgcaggcaagaggctgccgcccccagcgagggagagagcagcggcgaccccacccagtca
ccggacgccgccccgcagtgccctgcgggtgcgaaccccaacccgatataccaggtgctc
tga

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