KEGG T01001: 4625

Homo sapiens (human): 4625

Entry

4625 CDS T01001

Gene name

MYH7, CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM

Definition

myosin, heavy chain 7, cardiac muscle, beta

Orthology

K10352

myosin heavy chain

Organism

hsa Homo sapiens (human)

Pathway

hsa04260	Cardiac muscle contraction
hsa04530	Tight junction
hsa05410	Hypertrophic cardiomyopathy (HCM)
hsa05414	Dilated cardiomyopathy
hsa05416	Viral myocarditis

Disease

H00292	Hypertrophic cardiomyopathy (HCM)
H00294	Dilated cardiomyopathy (DCM)
H00594	Distal muscular dystrophies
H00656	Scapuloperoneal myopathy (SPM)
H00703	Myosin storage myopathy (MSM)
H01216	Left ventricular noncompaction (LVNC)

Drug target

Other:

D04510

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

Pfam:

Myosin_tail_1 Myosin_head Myosin_N Filament Reo_sigmaC IQ AAA_22

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2FXO 4DB1 2FXM

Position

14q12

AA seq 1935 aa
MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVT
AETEYGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGL
FCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
GAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANPALEAFGNAKTVRNDN
SSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDM
LLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFG
NMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQNVQQV
IYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINF
TNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMF
PKATDMTFKAKLFDNHLGKSANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDP
LNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKKGSSFQTVSALHRENLNKLMT
NLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQ
RYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDER
LSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLL
KSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLAD
AEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELT
LAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTL
TKAKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKQQLDERL
KKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEEELEAERTARAKVEKLRSDLS
RELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSV
AELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHR
SKAEETQRSVNDLTSQRAKLQTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLE
EEVKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAI
QRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAA
ALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKR
ENKNLQEEISDLTEQLGSSGKTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILR
AQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEG
DLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNL
LQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTE
VEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEA
EQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKN
LLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKL
RAKSRDIGTKGLNEE

NT seq 5808 nt +upstreamnt +downstreamnt
atgggagattcggagatggcagtctttggggctgccgccccctacctgcgcaagtcagag
aaggagcggctagaagcgcagaccaggccttttgacctcaagaaggatgtcttcgtgcct
gatgacaaacaggagtttgtcaaggccaagatcgtgtctcgagagggtggcaaagtcact
gccgagaccgagtatggcaagacagtgaccgtgaaggaggaccaggtgatgcagcagaac
ccacccaagttcgacaaaatcgaggacatggccatgctgaccttcctgcatgagcccgcg
gtgctctacaacctcaaggatcgctacggctcctggatgatctacacctactcgggcctc
ttctgtgtcaccgtcaacccttacaagtggctgccggtgtacactcctgaggtggtggct
gcctaccggggcaagaagaggagcgaggccccgccccacatcttctccatctccgacaac
gcctatcagtacatgctgacagacagagaaaaccagtccatcctgatcaccggagaatcc
ggagcagggaagacagtcaacaccaagagggtcatccagtactttgctgttattgcagcc
attggggaccgcagcaagaaggaccagagcccgggcaagggcaccctggaggaccagatc
atccaggccaaccctgctctggaggcctttggcaatgccaagaccgtccggaacgacaac
tcctcccgcttcgggaaattcattcgaattcattttggggcaacaggaaagttggcatct
gcagacatagagacctatcttctggaaaaatccagagttattttccagctgaaagcagag
agagattatcacattttctaccaaatcctgtctaacaaaaagcctgagctgctggacatg
ctgctgatcaccaacaacccctacgattatgcattcatctcccaaggagagaccaccgtg
gcctccattgatgacgctgaggagctcatggccactgataacgcttttgatgtgctgggc
ttcacttcagaggagaaaaactccatgtataagctgacaggcgccatcatgcactttgga
aacatgaagttcaagctgaagcagcgggaggagcaggcggagccagacggcactgaagag
gctgacaagtctgcctacctcatggggctgaactcagccgacctgctcaaggggctgtgc
caccctcgggtgaaagtgggcaatgagtacgtcaccaaggggcagaatgtccagcaggtg
atatatgccactggggcactggccaaggcagtgtatgagaggatgttcaactggatggtg
acgcgcatcaatgccaccctggagaccaagcagccacgccagtacttcataggagtcctg
gacatcgctggcttcgagatcttcgatttcaacagctttgagcagctctgcatcaacttc
accaacgagaagctgcagcagttcttcaaccaccacatgtttgtgctggagcaggaggag
tacaagaaggagggcatcgagtggacattcattgactttggcatggacctgcaggcctgc
attgacctcatcgagaagcccatgggcatcatgtccatcctggaagaggagtgcatgttc
cccaaggccaccgacatgaccttcaaggccaagctgtttgacaaccacctgggcaaatcc
gccaacttccagaagccacgcaatatcaaggggaagcctgaagcccacttctccctgatc
cactatgccggcatcgtggactacaacatcattggctggctgcagaagaacaaggatcct
ctcaatgagactgtcgtgggcttgtatcagaagtcttccctcaagctgctcagcaccctg
tttgccaactatgctggggctgatgcgcctattgagaagggcaaaggcaaggccaagaaa
ggctcgtcctttcagactgtgtcagctctgcacagggaaaatctgaacaagctgatgacc
aacttgcgctccacccatccccactttgtacgttgtatcatccctaatgagacaaagtct
ccaggggtgatggacaaccccctggtcatgcaccagctgcgctgcaatggtgtgctggag
ggcatccgcatctgcaggaaaggcttccccaaccgcatcctctacggggacttccggcag
aggtatcgcatcctgaacccagcggccatccctgagggacagttcattgatagcaggaag
ggggcagagaagctgctcagctccctggacattgatcacaaccagtacaagtttggccac
accaaggtgttcttcaaggccgggctgctggggctgctggaggaaatgagggacgagagg
ctgagccgcatcatcacgcgtatccaggcccagtcccgaggtgtgctcgccagaatggag
tacaaaaagctgctggaacgtagagactccctgctggtaatccagtggaacattcgggcc
ttcatgggggtcaagaattggccctggatgaagctctacttcaagatcaagccgctgctg
aagagtgcagaaagagagaaggagatggcctccatgaaggaggagttcacacgcctcaaa
gaggcgctagagaagtccgaggctcgccgcaaggagctggaggagaagatggtgtccctg
ctgcaggagaagaatgacctgcagctccaagtgcaggcggaacaagacaacctggcagat
gctgaggagcgctgtgatcagctgatcaaaaacaagattcagctggaggccaaggtgaag
gagatgaacgagaggctggaggatgaggaggagatgaatgctgagctcactgccaagaag
cgcaagctggaagatgagtgctcagagctcaaaagggacatcgatgatctggagctgaca
ctggccaaagtggagaaggagaaacacgcaacagagaacaaggtgaaaaacctgacagag
gagatggctgggctggatgagatcattgccaagctgaccaaggagaagaaagctctgcaa
gaggcccaccaacaggctctggatgaccttcaggccgaggaggacaaggtcaacaccctg
actaaggccaaagtcaagctggagcagcaagtggatgatctggaaggatccctggagcaa
gagaagaaggtgcgcatggacctggagcgagcgaagcggaagctggagggcgacctgaag
ctgacccaggagagcatcatggacctggagaatgacaagcagcagctggatgagcggctg
aaaaaaaaagactttgagctgaatgctctcaacgcaaggattgaggatgaacaggccctc
ggcagccagctgcagaagaagctcaaggagcttcaggcacgcatcgaggagctggaggag
gagctggaggccgagcgcaccgccagggctaaggtggagaagctgcgctcagacctgtct
cgggagctggaggagatcagcgagcggctggaagaggccggcggggccacgtccgtgcag
atcgagatgaacaagaagcgcgaggccgagttccagaagatgcggcgggacctggaggag
gccacgctgcagcacgaggccactgccgcggccctgcgcaagaagcacgccgacagcgtg
gccgagctgggcgagcagatcgacaacctgcagcgggtgaagcagaagctggagaaggag
aagagcgagttcaagctggagctggatgacgtcacctccaacatggagcagatcatcaag
gccaaggctaacctggagaagatgtgccggaccttggaagaccagatgaatgagcaccgg
agcaaggcggaggagacccagcgttctgtcaacgacctcaccagccagcgggccaagttg
caaaccgagaatggtgagctgtcccggcagctggatgagaaggaggcactgatctcccag
ctgacccgaggcaagctcacctacacccagcagctggaggacctcaagaggcagctggag
gaggaggttaaggcgaagaacgccctggcccacgcactgcagtcggcccggcatgactgc
gacctgctgcgggagcagtacgaggaggagacggaggccaaggccgagctgcagcgcgtc
ctttccaaggccaactcggaggtggcccagtggaggaccaagtatgagacggacgccatt
cagcggactgaggagctcgaggaggccaagaagaagctggcccagcggctgcaggaagct
gaggaggccgtggaggctgttaatgccaagtgctcctcgctggagaagaccaagcaccgg
ctacagaatgagatcgaggacttgatggtggacgtagagcgctccaatgctgctgctgca
gccctggacaagaagcagaggaacttcgacaagatcctggccgagtggaagcagaagtat
gaggagtcgcagtcggagctggagtcctcgcagaaggaggctcgctccctcagcacagag
ctcttcaaactcaagaacgcctatgaggagtccctggaacatctggagaccttcaagcgg
gagaacaaaaacctgcaggaggagatctccgacttgactgagcagttgggttccagcgga
aagactatccatgagctggagaaggtccgaaagcagctggaggccgagaagatggagctg
cagtcagccctggaggaggccgaggcctccctggagcacgaggagggcaagatcctccgg
gcccagctggagttcaaccagatcaaggcagagatcgagcggaagctggcagagaaggac
gaggagatggaacaggccaagcgcaaccacctgcgggtggtggactcgctgcagacctcc
ctggacgcagagacacgcagccgcaacgaggccctgagggtgaagaagaagatggaagga
gacctcaatgagatggagatccagctcagccacgccaaccgcatggccgccgaggcccag
aagcaagtcaagagcctccagagcttgttgaaggacacccagattcagctggacgatgca
gtccgtgccaacgacgacctgaaggagaacatcgccatcgtggagcggcgcaacaacctg
ctgcaggctgagctggaggagttgcgtgccgtggtggagcagacagagcggtcccggaag
ctggcggagcaggagctgattgagactagtgagcgggtgcagctgctgcattcccagaac
accagcctcatcaaccagaagaagaagatggatgctgacctgtcccagctccagactgaa
gtggaggaggcagtgcaggagtgcaggaatgctgaggagaaggccaagaaggccatcacg
gatgccgccatgatggcagaggagctgaagaaggagcaggacaccagcgcccacctggag
cgcatgaagaagaacatggaacagaccattaaggacctgcagcaccggctggacgaagcc
gagcagatcgccctcaagggcggcaagaagcagctgcagaagctggaagcgcgggtgcgg
gagctggagaatgagctggaggccgagcagaagcgcaacgcagagtcggtgaagggcatg
aggaagagcgagcggcgcatcaaggagctcacctaccagacggaggaggacaggaaaaac
ctgctgcggctgcaggacctggtagacaagctgcagctaaaggtcaaggcctacaagcgc
caggccgaggaggcggaggagcaagccaacaccaacctgtccaagttccgcaaggtgcag
cacgagctggatgaggcagaggagcgggcggacatcgccgagtcccaggtcaacaagctg
cgggccaagagccgtgacattggcacgaagggcttgaatgaggagtag

All links

Ontology (2)   
   KEGG BRITE (2)   
Pathway (5)   
   KEGG PATHWAY (5)   
Disease (12)   
   KEGG DISEASE (6)   
   OMIM (6)   
Drug (1)   
   KEGG DRUG (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (15)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (37)   
   RefSeq(nuc) (1)   
   GenBank (18)   
   EMBL (18)   
3D Structure (3)   
   PDB (3)   
Protein domain (7)   
   Pfam (7)   
All databases (93)   

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