KEGG   Homo sapiens (human): 70Help
Entry
70                CDS       T01001                                 

Gene name
ACTC1, ACTC, ASD5, CMD1R, CMH11, LVNC4
Definition
actin, alpha, cardiac muscle 1
Orthology
K12314  
actin, alpha cardiac muscle
Organism
hsa  Homo sapiens (human)
Pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Hypertrophic cardiomyopathy (HCM)
Dilated cardiomyopathy
Disease
H00292  
Hypertrophic cardiomyopathy (HCM)
H00294  
Dilated cardiomyopathy (DCM)
H00546  
Atrial septal defect
H01216  
Left ventricular noncompaction (LVNC)
H01219  
Restrictive cardiomyopathy (RCM)
Class
Organismal Systems; Circulatory system; Cardiac muscle contraction [PATH:hsa04260]
Organismal Systems; Circulatory system; Adrenergic signaling in cardiomyocytes [PATH:hsa04261]
Human Diseases; Cardiovascular diseases; Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410]
Human Diseases; Cardiovascular diseases; Dilated cardiomyopathy (DCM) [PATH:hsa05414]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
15q14
AA seq 377 aa AA seqDB search
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIS
KQEYDEAGPSIVHRKCF
NT seq 1134 nt NT seq  +upstreamnt  +downstreamnt
atgtgtgacgacgaggagaccaccgccctggtgtgcgacaacggctctgggctggtgaag
gccggctttgcgggcgatgacgcgccccgcgctgtcttcccgtccatcgtgggccgcccg
cggcaccagggagttatggtgggtatgggtcagaaggactcctacgtaggtgatgaagcc
cagagcaagagaggcatcctgaccctgaagtatcccatcgagcatggtatcatcaccaac
tgggacgacatggagaagatctggcaccacaccttctacaatgagctccgtgtggctccc
gaggagcaccccaccctgctcacagaggccccgctgaaccccaaggccaaccgggagaag
atgactcagatcatgtttgagaccttcaatgtccctgccatgtacgtggccatccaggca
gtgctatccctgtatgcttctggccgtaccacaggcattgttctggactctggggatggt
gtaactcacaatgtccccatctatgagggctacgctttgccccatgccatcatgcgtctg
gatctggctggtcgggacctcactgactacctcatgaagatcctcactgagcgtggctac
tcctttgtcaccactgctgaacgtgaaattgtccgtgacattaaagagaagctgtgctat
gtcgccctggattttgagaatgagatggccacagctgcctcttcctcctccctggagaag
agctatgaactgcctgatggccaagtcatcactattggcaatgagcgcttccgctgtcct
gagacactcttccagccctccttcattggtatggaatctgctggcatccatgaaacaact
tacaatagcatcatgaagtgtgacattgatatccgcaaggacctgtatgccaacaatgtc
ttatctggaggcaccactatgtaccctggtattgctgatcgtatgcagaaggaaatcact
gctctggctcctagcaccatgaagattaagattattgctccccctgagcgtaaatactct
gtctggattgggggctccatcctggcctctctgtccaccttccagcaaatgtggattagc
aagcaagagtacgatgaggcaggcccatccattgtccaccgcaaatgcttctaa

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