ACTC_HUMAN
Source:
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
ACTC1
, ACTC
Protein names and data:
ACTC_HUMAN
, Actin, alpha cardiac muscle 1
, Alpha-cardiac actin; Flags: Precursor
Lenght: 377 a.a.
Mass: 42019 Da
fasta formatted sequence
Function:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Disease:
( OMIM:
102540
612098
612794
613424
)
Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry. Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene represented in this entry. Atrial septal defect 5 (ASD5) [MIM:612794]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cytoskeleton.
Genetic variants
90 - 90
H -> Y (in CMH11). VAR_045924
97 - 97
R -> C (in CMH11). VAR_045925
101 - 101
E -> K (in CMH11). VAR_012857
125 - 125
M -> V (in ASD5; reduced affinity for myosin; normal actin filament polymerization ability; normal actomyosin motor function). VAR_046502
166 - 166
P -> A (in CMH11). VAR_012858
168 - 168
Y -> C (in CMH11). VAR_046503
297 - 297
A -> S (in CMH11). VAR_012859
307 - 307
M -> L (in CMH11). VAR_046504
314 - 314
R -> H (in CMD1R). VAR_012860
333 - 333
A -> P (in CMH11). VAR_012861
363 - 363
E -> G (in CMD1R). VAR_012862
Database cross-references
UniProt:
P68032
Ensembl:
ENST00000290378
MIM:
102540
MIM:
612098
MIM:
612794
MIM:
613424
neXtProt:
NX_P68032
Antibodypedia:
P68032
(may not find the protein thus also not any antibody)
Local full text data:
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