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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ACTA1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 58 Official gene symbol ACTA1 Full name actin, alpha 1, skeletal muscle Aliases ,ACTA,ASMA,CFTD,CFTD1,CFTDM,MPFD,NEM1,NEM2,NEM3, Gene summary The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq] Location Chromosome: 1   Locus: 1q42.13 Gene position 229569843 - 229566992  Map Viewer Gene orientation minus Gene size 2852 bp Gene sequence >ACTA1:complement(23084771..23087622):Length=2852 CCACCGCAGCGGACAGCGCCAAGTGAAGCCTCGCTTCCCCTCCGCGGCGACCAGGGCCCG AGCCGAGAGTAGCAGTTGTAGCTACCCGCCCAGGTAGGGCAGGAGTTGGGAGGGGACAGG GGGACAGGGCACTACCGAGGGGAACCTGAAGGACTCCGGGGCAGAACCCAGTCGGTTCAC CTGGTCAGCCCCAGGCCTGCGCCCTGAGCGCTGTGCCTCGTCTCCGGAGCCACACGCGCT TTAAAAAGGAGGCAAGACAGTCAGCCTCTGGAAATTAGACTTCTCCAAATTTTTCTCTAG CCCCTTTGGGCTCCTTTACCTGGCATGTAGGATGTGCCTAGGGAGATAAACGGTTTTGCT TTAGTTGTCGCCAAGGCAGTTCCCTTCCAAACTAGCGCTAGAGCGAATGAGCGAGCAGCC AGGACCACCCATTCTGGGTTTCCAACAGGCGAAAAGGCCCTTTCTGAGTTTGAAATGTCA CAGGGTTCCTAACAGGCCACTCTTCCCTGGATGGGGTGCCAACGCCTTTCCCATGGGCAT CTCCTTCCACCCTCACGCTGGCCCAGCAAGCAGGCAGTGCTGAGGCCTTATCTCCCTAGG TGACAGATGTGGTCAGGGAGGCGCAGAGAGGATGGGCACTAGCGTCCAGCTCCTGGAACA GGTGTCAGGCAGGGAGGGCAGACAGGTCTTGGGGAACATGTTCCCCTGGCTATGTGGACA GAGGACTTCTCAGTGGGGTCTCGCGACCCTGTGCCCCTTTTCCTGGTTCAGGGCAGCCCT TAGCCGGGGCAAAGGTCGAGAAGAGAACCCCTGGTCGCCGCCCTGGCAGAATTTGAGTGG CTCCGGCAGGAGATGTCCCTAGGTTCCTGGGGAGGGAGGACGTCGGGGCCAGCCAGGCTT ACCCCCCCCTGCCGCTGAGACTTCTGCGCTGATGCACCGCGCCTCTTCGCGGTCTCCCTG TCCTTGCAGAAACTAGACACAATGTGCGACGAAGACGAGACCACCGCCCTCGTGTGCGAC AATGGCTCCGGCCTGGTGAAAGCCGGCTTCGCCGGGGATGACGCCCCTAGGGCCGTGTTC CCGTCCATCGTGGGCCGCCCCCGACACCAGGTCAGGCTGCCCCTCCGCAGAGGGAGCCGG CTCGGGGTCCCCGCGTAAGCCAGCCTGGTGCCACCCGGAGCGGCGTTAACGGGTGCGTGG TGTCTCGGCTCTGCAGGGCGTCATGGTCGGTATGGGTCAGAAAGATTCCTACGTGGGCGA CGAGGCTCAGAGCAAGAGAGGTATCCTGACCCTGAAGTACCCTATCGAGCACGGCATCAT CACCAACTGGGATGACATGGAGAAGATCTGGCACCACACCTTCTACAACGAGCTTCGCGT GGCTCCCGAGGAGCACCCCACCCTGCTCACCGAGGCCCCCCTCAATCCCAAGGCCAACCG CGAGAAGATGACCCAGATCATGTTTGAGACCTTCAACGTGCCCGCCATGTACGTGGCCAT CCAGGCCGTGCTGTCCCTCTACGCCTCCGGCAGGACCACCGGTGAGTGCCCGCTGCCCCC AGTCCCCTCTCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCGCTAGCGCTGAGAGCCTAGC CTCGGCCTCGCCCCCAGCCACTCACTCTCTCCCGCGCGCGCACAGGCATCGTGCTGGACT CCGGCGACGGCGTCACCCACAACGTGCCCATTTATGAGGGCTACGCGCTGCCGCACGCCA TCATGCGCCTGGACCTGGCGGGCCGCGATCTCACCGACTACCTGATGAAGATCCTCACTG AGCGTGGCTACTCCTTCGTGACCACAGGTGCGCGGCGCCCCTGCACCCCGGGCGGGAGGG CCGGCGGCGGCCCCTGAGTGAGGGCTCCTCTCCTGCTTCTGCCCTCCGCAGCTGAGCGCG AGATCGTGCGCGACATCAAGGAGAAGCTGTGCTACGTGGCCCTGGACTTCGAGAACGAGA TGGCGACGGCCGCCTCCTCCTCCTCCCTGGAAAAGAGCTACGAGCTGCCAGACGGGCAGG TCATCACCATCGGCAACGAGCGCTTCCGCTGCCCGGAGACGCTCTTCCAGCCCTCCTTCA TCGGTGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCG AGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTATGGAGTCGGCGGGCATTCACGAG ACCACCTACAACAGCATCATGAAGTGTGACATCGACATCAGGAAGGACCTGTATGCCAAC AACGTCATGTCGGGGGGCACCACGATGTACCCTGGGATCGCTGACCGCATGCAGAAAGAG ATCACCGCGCTGGCACCCAGCACCATGAAGATCAAGGTGGGTGGTGGCCTGCGCGGGCTG TCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGATCATC GCCCCGCCGGAGCGCAAATACTCGGTGTGGATCGGCGGCTCCATCCTGGCCTCGCTGTCC ACCTTCCAGCAGATGTGGATCACCAAGCAGGAGTACGACGAGGCCGGCCCTTCCATCGTC CACCGCAAATGCTTCTAGACACACTCCACCTCCAGCACGCGACTTCTCAGGACGACGAAT CTTCTCAATGGGGGGGCGGCTGAGCTCCAGCCACCCCGCAGTCACTTTCTTTGTAACAAC TTCCGTTGCTGCCATCGTAAACTGACACAGTGTTTATAACGTGTACATACATTAACTTAT TACCTCATTTTGTTATTTTTCGAAACAAAGCCCTGTGGAAGAAAATGGAAAACTTGAAGA AGCATTAAAGTCATTCTGTTAAGCTGCGTAAA OMIM ID 102610