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

Gene name
ACTA1, ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, SHPM
Definition
(RefSeq) actin alpha 1, skeletal muscle
  KO
K10354  actin, alpha skeletal muscle
Organism
hsa  Homo sapiens (human)
Disease
H00698  Nemaline myopathy
H00701  Congenital fiber type disproportion
H00702  Cap myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    58 (ACTA1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actins
    Actins
     58 (ACTA1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Actin
Motif
Other DBs
NCBI-GeneID: 58
NCBI-ProteinID: NP_001091
OMIM: 102610
HGNC: 129
Ensembl: ENSG00000143632
Vega: OTTHUMG00000038006
Pharos: P68133(Tbio)
UniProt: P68133
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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