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Gene Model: Acta1

NomenclatureGenomic Location
SymbolActa1ChromosomeX
NameActin, alpha skeletal muscleLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChrX: 55 Mbp

Molecular Function

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Molecular Function Terms:

binding
   nucleotide binding
      purine nucleotide binding
         adenyl nucleotide binding
            adenyl ribonucleotide binding
               ATP binding

Human Disease Association

Defects in ACTA1 are the cause of nemaline myopathy type 3 (NEM3) [MIM:161800]. A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination.

Defects in ACTA1 are a cause of congenital myopathy with excess of thin myofilaments (CM) [MIM:102610].

Defects in ACTA1 are a cause of congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]; also known as congenital fiber-type disproportion myopathy (CFTDM). CFTD is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions.

Predicted Transcript
     1 ATGTGTGATGAGGATGAGACCACCGCGCTCGTATGCGACAACGGCTCCGGCCTTGTGAAG
    61 GCTGGCTTCGCCGGGGACGATGCCCCCAGAGCTGTATTCCCCTCCATTGTTGGCCGCCCC
   121 CGTCATCAGGGTGTCATGGTGGGTATGGGTCAAAAAGACTCCTACGTAGGGGATGAAGCT
   181 CAGAGCAAAAGAGGTATCCTGACCCTGAAGTACCCCATTGAGCATGGCATCATCACCAAC
   241 TGGGATGACATGGAGAAGATCTGGCACCACACCTTCTACAATGAGCTCCGTGTGGCCCCT
   301 GAGGAGCACCCCACCCTGCTCACTGAGGCCCCTCTCAACCCCAAGGCCAACCGTGAAAAG
   361 ATGACCCAGATCATGTTTGAGACCTTCAACGTCCCTGCCATGTATGTGGCCATCCAGGCT
   421 GTGCTGTCCCTCTATGCCTCTGGCCGTACCACCGGTATTGTGCTGGACTCTGGTGATGGT
   481 GTTACCCACAATGTGCCCATCTATGAGGGTTATGCTCTCCCACATGCCATCATGCGCTTG
   541 GACTTGGCTGGTCGGGATCTCACTGACTACCTGATGAAGATCCTGACTGAGAGAGGCTAC
   601 TCTTTTGTCACCACTGCTGAGCGTGAGATTGTCCGTGACATCAAGGAAAAGCTGTGCTAC
   661 GTGGCTCTGGACTTCGAGAATGAGATGGCTACCGCTGCCTCCTCCTCTTCCTTGGAAAAG
   721 AGCTATGAATTGCCTGATGGGCAGGTCATCACCATTGGTAATGAACGTTTCCGTTGCCCA
   781 GAGACCCTCTTCCAGCCATCTTTCATTGGTATGGAATCAGCTGGTATTCATGAGACAACA
   841 TACAACAGCATCATGAAGTGCGATATTGACATCAGGAAGGACCTGTATGCCAACAATGTC
   901 ATGTCTGGTGGTACCACCATGTATCCCGGTATTGCTGACCGCATGCAGAAGGAAATCACT
   961 GCTCTGGCTCCCAGCACAATGAAGATCAAGATCATTGCCCCACCAGAGCGTAAGTACTCC
  1021 GTCTGGATCGGTGGCTCCATCTTGGCTTCCCTGTCCACCTTCCAGCAGATGTGGATCACA
  1081 AAACAAGAATACGATGAAGCCGGCCCATCCATTGTCCACCGTAAATGCTTCTAA

Predicted Protein Product
MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
MSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIT
KQEYDEAGPSIVHRKCF
Protein Alignment to Mouse
sp|P68134|ACTS_MOUSE Actin, alpha skeletal muscle OS=Mus musculus GN=Acta1
            PE=1 SV=1
      MGI:87902 Acta1 actin, alpha 1, skeletal muscle (Chr 8)
        Length = 377

 Score = 1975 (700.3 bits), Expect = 7.5e-205, P = 7.5e-205
 Identities = 377/377 (100%), Positives = 377/377 (100%)

Query:     1 MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA 60
             MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
Sbjct:     1 MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA 60

Query:    61 QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK 120
             QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
Sbjct:    61 QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK 120

Query:   121 MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL 180
             MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
Sbjct:   121 MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL 180

Query:   181 DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK 240
             DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
Sbjct:   181 DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK 240

Query:   241 SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV 300
             SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
Sbjct:   241 SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV 300

Query:   301 MSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIT 360
             MSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIT
Sbjct:   301 MSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIT 360

Query:   361 KQEYDEAGPSIVHRKCF 377
             KQEYDEAGPSIVHRKCF
Sbjct:   361 KQEYDEAGPSIVHRKCF 377