KEGG   Homo sapiens (human): 58Help
Entry
58                CDS       T01001                                 

Gene name
ACTA1, ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3
Definition
actin, alpha 1, skeletal muscle
Orthology
K10354  
actin, alpha skeletal muscle
Organism
hsa  Homo sapiens (human)
Disease
H00698  
Nemaline myopathy
H00701  
Congenital fiber type disproportion (CFTD)
H00702  
Cap myopathy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
1q42.13
AA seq 377 aa AA seqDB search
MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
MSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIT
KQEYDEAGPSIVHRKCF
NT seq 1134 nt NT seq  +upstreamnt  +downstreamnt
atgtgcgacgaagacgagaccaccgccctcgtgtgcgacaatggctccggcctggtgaaa
gccggcttcgccggggatgacgcccctagggccgtgttcccgtccatcgtgggccgcccc
cgacaccagggcgtcatggtcggtatgggtcagaaagattcctacgtgggcgacgaggct
cagagcaagagaggtatcctgaccctgaagtaccctatcgagcacggcatcatcaccaac
tgggatgacatggagaagatctggcaccacaccttctacaacgagcttcgcgtggctccc
gaggagcaccccaccctgctcaccgaggcccccctcaatcccaaggccaaccgcgagaag
atgacccagatcatgtttgagaccttcaacgtgcccgccatgtacgtggccatccaggcc
gtgctgtccctctacgcctccggcaggaccaccggcatcgtgctggactccggcgacggc
gtcacccacaacgtgcccatttatgagggctacgcgctgccgcacgccatcatgcgcctg
gacctggcgggccgcgatctcaccgactacctgatgaagatcctcactgagcgtggctac
tccttcgtgaccacagctgagcgcgagatcgtgcgcgacatcaaggagaagctgtgctac
gtggccctggacttcgagaacgagatggcgacggccgcctcctcctcctccctggaaaag
agctacgagctgccagacgggcaggtcatcaccatcggcaacgagcgcttccgctgcccg
gagacgctcttccagccctccttcatcggtatggagtcggcgggcattcacgagaccacc
tacaacagcatcatgaagtgtgacatcgacatcaggaaggacctgtatgccaacaacgtc
atgtcggggggcaccacgatgtaccctgggatcgctgaccgcatgcagaaagagatcacc
gcgctggcacccagcaccatgaagatcaagatcatcgccccgccggagcgcaaatactcg
gtgtggatcggcggctccatcctggcctcgctgtccaccttccagcagatgtggatcacc
aagcaggagtacgacgaggccggcccttccatcgtccaccgcaaatgcttctag

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