| Entry |
|
| Gene name |
MYH6, ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC
|
| Definition |
myosin, heavy chain 6, cardiac muscle, alpha
|
| Orthology |
|
| Organism |
|
| Pathway |
| Cardiac muscle contraction | | Tight junction | | Hypertrophic cardiomyopathy (HCM) | | Dilated cardiomyopathy | | Viral myocarditis |
|
| Disease |
| Hypertrophic cardiomyopathy (HCM) | | Dilated cardiomyopathy (DCM) | | Atrial septal defect |
|
| Drug target |
|
| Class |
Cellular Processes; Cell communication; Tight junction [PATH: hsa04530]
Organismal Systems; Circulatory system; Cardiac muscle contraction [PATH: hsa04260]
Human Diseases; Cardiovascular diseases; Hypertrophic cardiomyopathy (HCM) [PATH: hsa05410]
Human Diseases; Cardiovascular diseases; Dilated cardiomyopathy (DCM) [PATH: hsa05414]
Human Diseases; Cardiovascular diseases; Viral myocarditis [PATH: hsa05416]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
14q12
|
| AA seq |
1939 aa  
MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVI
AETENGKTVTVKEDQVLQQNPPKFDKIEDMAMLTFLHEPAVLFNLKERYAAWMIYTYSGL
FCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
GAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRND
NSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLD
MLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHY
GNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQ
VYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCIN
FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECM
FPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKD
PLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKL
MTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDF
RQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRD
ERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKP
LLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNL
NDAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLE
LTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQVEEDKVN
SLSKSKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKLQLEE
KLKKKEFDINQQNSKIEDEQVLALQLQKKLKENQARIEELEEELEAERTARAKVEKLRSD
LSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHAD
SVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKVSRTLEDQANE
YRVKLEEAQRSLNDFTTQRAKLQTENGELARQLEEKEALISQLTRGKLSYTQQMEDLKRQ
LEEEGKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETD
AIQRTEELEEAKKKLAQRLQDAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAA
AAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETF
KRENKNLQEEISDLTEQLGEGGKNVHELEKVRKQLEVEKLELQSALEEAEASLEHEEGKI
LRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHQRVVDSLQTSLDAETRSRNEVLRVKKKM
EGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRN
NLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMESDLTQLQ
SEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLD
EAEQIALKGGKKQLQKLEARVRELEGELEAEQKRNAESVKGMRKSERRIKELTYQTEEDK
KNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVN
KLRAKSRDIGAKQKMHDEE |
| NT seq |
5820 nt  +upstreamnt +downstreamnt
atgaccgatgcccagatggctgactttggggcagcggcccagtacctccgcaagtcagag
aaggagcgtctagaggcccagacccggccctttgacattcgcactgagtgcttcgtgccc
gatgacaaggaagagtttgtcaaagccaagattttgtcccgggagggaggcaaggtcatt
gctgaaaccgagaatgggaagacggtgactgtgaaggaggaccaggtgttgcagcagaac
ccacccaagttcgacaagattgaggacatggccatgctgaccttcctgcacgagcccgcg
gtgcttttcaacctcaaggagcgctacgcggcctggatgatatatacctactcgggcctc
ttctgtgtcactgtcaacccctacaagtggctgccggtgtacaatgccgaggtggtggcc
gcctaccggggcaagaagaggagtgaggccccgccccacatcttctccatctccgacaac
gcctatcagtacatgctgacagatcgggagaaccagtccatcctcatcacgggagaatcc
ggggcggggaagactgtgaacaccaagcgtgtcatccagtactttgccagcattgcagcc
ataggtgaccgtggcaagaaggacaatgccaatgcgaacaagggcaccctggaggaccag
atcatccaggccaaccccgctctggaggccttcggcaatgccaagactgtccggaacgac
aactcctcccgctttgggaaattcattaggatccactttggggccactggaaagctggct
tctgcagacatagagacctacctgctggagaagtcccgggtgatcttccagctgaaagct
gagagaaactaccacatcttctaccagattctgtccaacaagaagccggagttgctggac
atgctgctggtcaccaacaatccctacgactacgccttcgtgtctcagggagaggtgtcc
gtggcctccattgatgactccgaggagctcatggccaccgatagtgcctttgacgtgctg
ggcttcacttcagaggagaaagctggcgtctacaagctgacgggagccatcatgcactac
gggaacatgaagttcaagcagaagcagcgggaggagcaggcggagccagacggcaccgaa
gatgctgacaagtcggcctacctcatggggctgaactcagctgacctgctcaaggggctg
tgccaccctcgggtgaaagtgggcaacgagtatgtcaccaaggggcagagcgtgcagcag
gtgtactactccatcggggctctggccaaggcagtgtatgagaagatgttcaactggatg
gtgacgcgcatcaacgccaccctggagaccaagcagccacgccagtacttcataggagtc
ctggacatcgctggcttcgagatcttcgacttcaacagctttgagcagctctgcatcaac
ttcaccaacgagaagctgcagcagttcttcaaccaccacatgttcgtgctggagcaggag
gagtacaagaaggagggcattgagtggacattcattgactttggcatggacctgcaggcc
tgcattgacctcatcgagaagcccatgggcatcatgtccatcctggaggaggagtgcatg
ttccccaaggccactgacatgaccttcaaggccaagctgtacgacaaccacctgggcaag
tccaacaatttccagaagccacgcaacatcaaggggaagcaggaagcccacttctccctg
atccactacgccggcactgtggactacaacatcctgggctggctggaaaaaaacaaggat
cctctcaacgagactgttgtggccctgtaccagaagtcctccctcaagctcatggccact
ctcttctcctcctacgcaactgccgatactggggacagtggtaaaagcaaaggaggcaag
aaaaagggctcatccttccagacggtgtcggctctccaccgggaaaatctcaacaagcta
atgaccaacctgaggaccacccatcctcactttgtgcgttgcatcatccccaatgagcgg
aaggctccaggggtgatggacaaccccctggtcatgcaccagctgcgctgcaatggcgtg
ctggagggcatccgcatctgcaggaagggcttccccaaccgcatcctctacggggacttc
cggcagaggtatcgcatcctgaacccagtggccatccctgagggacagttcattgatagc
aggaaggggacagagaagctgctcagctctctggacattgatcacaaccagtacaagttt
ggccacaccaaggtgttcttcaaggcagggctgcttgggctgctggaggagatgcgggat
gagaggctgagccgcatcatcacgcgcatgcaggcccaagcccggggccagctcatgcgc
attgagttcaagaagatagtggaacgcagggatgccctgctggtaatccagtggaacatt
cgggccttcatgggggtcaagaattggccctggatgaagctctacttcaagatcaagccg
ctgctgaagagcgcagagacggagaaggagatggccaccatgaaggaagagttcgggcgc
atcaaagagacgctggagaagtccgaggctcgccgcaaggagctggaggagaagatggtg
tccctgctgcaggagaagaatgacctgcagctccaagtgcaggcggaacaagacaacctc
aatgatgctgaggagcgctgcgaccagctgatcaaaaacaagattcagctggaggccaaa
gtaaaggagatgaatgagaggctggaggatgaggaggagatgaacgcggagctcactgcc
aagaagcgcaagctggaagacgagtgctcagagctcaagaaggacattgatgacctggag
ctgacactggccaaggtggagaaggagaagcatgcaacagagaacaaggtgaagaaccta
acagaggagatggctgggctggatgaaatcatcgctaagctgaccaaggagaagaaagct
ctacaagaggcccatcagcaggccctggatgaccttcaggttgaggaagacaaggtcaac
agcctgtccaagtctaaggtcaagctggagcagcaggtggatgatctggagggatcccta
gagcaagagaagaaggtgcgcatggacctggagcgagcaaagcggaaactggagggcgac
ctgaagctgacccaggagagcatcatggacctggaaaatgataaactgcagctggaagaa
aagcttaagaagaaggagtttgacattaatcagcagaacagtaagattgaggatgagcag
gtgctggcccttcaactacagaagaaactgaaggaaaaccaggcacgcatcgaggagctg
gaggaggagctggaggccgagcgcaccgccagggctaaggtggagaagctgcgctcagac
ctgtctcgggagctggaggagatcagcgagcggctggaagaggccggcggggccacgtcc
gtgcagatcgagatgaacaagaagcgcgaggccgagttccagaagatgcggcgggacctg
gaggaggccacgctgcagcacgaggccactgccgcggccctgcgcaagaagcacgccgac
agcgtggccgagctgggcgagcagatcgacaacctgcagcgggtgaagcagaagctggag
aaggagaagagcgagttcaagctggagctggatgacgtcacctccaacatggagcagatc
atcaaggccaaggcaaacctggagaaagtgtctcggacgctggaggaccaggccaatgag
taccgcgtgaagctagaagaggcccaacgctccctcaatgatttcaccacccagcgagcc
aagctgcagaccgagaatggagagttggcccggcagctagaggaaaaggaggcgctaatc
tcgcagctgacccgggggaagctctcttatacccagcaaatggaggacctcaaaaggcag
ctggaggaggagggcaaggcgaagaacgccctggcccatgcactgcagtcggcccggcat
gactgcgacctgctgcgggagcagtacgaggaggagacagaggccaaggccgagctgcag
cgcgtcctgtccaaggccaactcggaggtggcccagtggaggaccaagtatgagacggac
gccattcagcggactgaggagctcgaagaggccaaaaagaagctggcccagcggctgcag
gatgccgaggaggccgtggaggctgttaatgccaagtgctcctcactggagaagaccaag
caccggctacagaatgagatagaggacttgatggtggacgtagagcgctccaatgctgct
gctgcagccctggacaagaagcagagaaactttgacaagatcctggccgagtggaagcag
aagtatgaggagtcgcagtctgagctggagtcctcacagaaggaggctcgctccctcagc
acagagctcttcaagctcaagaacgcctacgaggagtccctggagcacctagagaccttc
aagcgggagaacaagaaccttcaggaggaaatctcggaccttactgagcagctaggagaa
ggaggaaagaatgtgcatgagctggagaaggtccgcaaacagctggaggtggagaagctg
gagctgcagtcagccctggaggaggcagaggcctccctggagcacgaggagggcaagatc
ctccgggcccagctagagttcaaccagatcaaggcagagatcgagcggaagctggcagag
aaggacgaggagatggaacaggccaagcgcaaccaccagcgggtggtggactcgctgcag
acctccctggatgcagagacacgcagccgcaacgaggtcctgagggtgaagaagaagatg
gaaggagacctcaatgagatggagatccagctcagccacgccaaccgcatggctgccgag
gcccagaagcaagtcaagagcctccagagcttgctgaaggacacccagatccagctggac
gatgcggtccgtgccaacgacgacctgaaggagaacatcgccatcgtggagcggcgcaac
aacctgctgcaggctgagctggaggagctgcgtgccgtggtggagcagacagagcggtcc
cggaagctggcggagcaggagctgattgagaccagcgagcgggtgcagctgctgcattcc
cagaacaccagcctcatcaaccagaagaagaagatggagtcggatctgacccagctccag
tcggaagtggaggaggcagtgcaggagtgcagaaacgccgaggagaaggccaagaaggcc
atcacggatgccgccatgatggcagaggagctgaagaaggagcaggacaccagcgcccac
ctggagcgcatgaagaagaacatggagcagaccattaaggacctgcagcaccggctggac
gaggccgagcagatcgccctcaagggaggcaagaagcagctgcagaagctggaagcgcgg
gtgcgggagctggagggtgagctggaggccgagcagaagcgcaacgcagagtcggtgaag
ggcatgaggaagagcgagcggcgcatcaaggagctcacctaccagacagaggaagacaaa
aagaacctgctgcggctacaggacctggtggacaagctgcaactgaaggtcaaggcctac
aagcgccaggccgaggaggcggaggagcaagccaacaccaacctgtccaagttccgcaag
gtgcagcatgagctggatgaggcagaggagcgggcggacatcgctgagtcccaggtcaac
aagcttcgagccaagagccgtgacattggtgccaagcaaaaaatgcacgatgaggagtga |