KEGG   Homo sapiens (human): 58
Entry
58                CDS       T01001                                 
Symbol
ACTA1, ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYP2A, CMYP2B, CMYP2C, MPFD, NEM1, NEM2, NEM3, SHPM
Name
(RefSeq) actin alpha 1, skeletal muscle
  KO
K10354  actin, alpha skeletal muscle
Organism
hsa  Homo sapiens (human)
Pathway
hsa04814  Motor proteins
hsa04820  Cytoskeleton in muscle cells
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01818  Actin thin filament, muscle contraction
N01819  Actin thin filament, length regulation
N01820  Sarcomere, Z-disc
Disease
H00698  Nemaline myopathy
H00701  Congenital fiber type disproportion
H00702  Cap myopathy
H01810  Congenital myopathy
H02721  Scapulohumeroperoneal myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04814 Motor proteins
    58 (ACTA1)
   04820 Cytoskeleton in muscle cells
    58 (ACTA1)
 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)
SSDB
Motif
Pfam: Actin
Other DBs
NCBI-GeneID: 58
NCBI-ProteinID: NP_001091
OMIM: 102610
HGNC: 129
Ensembl: ENSG00000143632
UniProt: P68133
Structure
LinkDB
Position
1:complement(229431245..229434094)
AA seq 377 aa
MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
MSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIT
KQEYDEAGPSIVHRKCF
NT seq 1134 nt   +upstreamnt  +downstreamnt
atgtgcgacgaagacgagaccaccgccctcgtgtgcgacaatggctccggcctggtgaaa
gccggcttcgccggggatgacgcccctagggccgtgttcccgtccatcgtgggccgcccc
cgacaccagggcgtcatggtcggtatgggtcagaaagattcctacgtgggcgacgaggct
cagagcaagagaggtatcctgaccctgaagtaccctatcgagcacggcatcatcaccaac
tgggatgacatggagaagatctggcaccacaccttctacaacgagcttcgcgtggctccc
gaggagcaccccaccctgctcaccgaggcccccctcaatcccaaggccaaccgcgagaag
atgacccagatcatgtttgagaccttcaacgtgcccgccatgtacgtggccatccaggcc
gtgctgtccctctacgcctccggcaggaccaccggcatcgtgctggactccggcgacggc
gtcacccacaacgtgcccatttatgagggctacgcgctgccgcacgccatcatgcgcctg
gacctggcgggccgcgatctcaccgactacctgatgaagatcctcactgagcgtggctac
tccttcgtgaccacagctgagcgcgagatcgtgcgcgacatcaaggagaagctgtgctac
gtggccctggacttcgagaacgagatggcgacggccgcctcctcctcctccctggaaaag
agctacgagctgccagacgggcaggtcatcaccatcggcaacgagcgcttccgctgcccg
gagacgctcttccagccctccttcatcggtatggagtcggcgggcattcacgagaccacc
tacaacagcatcatgaagtgtgacatcgacatcaggaaggacctgtatgccaacaacgtc
atgtcggggggcaccacgatgtaccctgggatcgctgaccgcatgcagaaagagatcacc
gcgctggcacccagcaccatgaagatcaagatcatcgccccgccggagcgcaaatactcg
gtgtggatcggcggctccatcctggcctcgctgtccaccttccagcagatgtggatcacc
aagcaggagtacgacgaggccggcccttccatcgtccaccgcaaatgcttctag

KEGG   Homo sapiens (human): 70
Entry
70                CDS       T01001                                 
Symbol
ACTC1, ACTC, ASD5, CMD1R, CMH11, LVNC4
Name
(RefSeq) actin alpha cardiac muscle 1
  KO
K12314  actin, alpha cardiac muscle
Organism
hsa  Homo sapiens (human)
Pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04814  Motor proteins
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01818  Actin thin filament, muscle contraction
N01819  Actin thin filament, length regulation
N01820  Sarcomere, Z-disc
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
H00546  Atrial septal defect
H01216  Left ventricular noncompaction
H01219  Restrictive cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04814 Motor proteins
    70 (ACTC1)
   04820 Cytoskeleton in muscle cells
    70 (ACTC1)
 09150 Organismal Systems
  09153 Circulatory system
   04260 Cardiac muscle contraction
    70 (ACTC1)
   04261 Adrenergic signaling in cardiomyocytes
    70 (ACTC1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    70 (ACTC1)
   05414 Dilated cardiomyopathy
    70 (ACTC1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    70 (ACTC1)
   04147 Exosome [BR:hsa04147]
    70 (ACTC1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actins
    Actins
     70 (ACTC1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of colorectal cancer cells
   70 (ACTC1)
  Exosomal proteins of bladder cancer cells
   70 (ACTC1)
SSDB
Motif
Pfam: Actin
Other DBs
NCBI-GeneID: 70
NCBI-ProteinID: NP_005150
OMIM: 102540
HGNC: 143
Ensembl: ENSG00000159251
UniProt: P68032 B3KPP5
Structure
LinkDB
Position
15:complement(34790230..34795549)
AA seq 377 aa
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIS
KQEYDEAGPSIVHRKCF
NT seq 1134 nt   +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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