ACTS_HUMAN
Source:
hRBCD
; ID:
IPI00021428
PM19886704
PM23856902
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:
ACTA1
, ACTA
Protein names and data:
ACTS_HUMAN
, Actin, alpha skeletal muscle
, Alpha-actin-1; Flags: Precursor
Lenght: 377 a.a.
Mass: 42051 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:
102610
161800
255310
)
Nemaline myopathy 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-like or rod-shaped structures in muscle fibers on histologic examination. Note=The disease is caused by mutations affecting the gene represented in this entry. Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]: A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent. Note=The disease is caused by mutations affecting the gene represented in this entry. Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cytoskeleton.
Genetic variants
3 - 3
D -> Y (in NEM3; some patients have core lesions on muscle biopsy). VAR_062424
17 - 17
G -> R (in MPCETM). VAR_011680
27 - 27
D -> N (in NEM3). VAR_062425
37 - 37
V -> L (in NEM3). VAR_062426
40 - 40
P -> L (in NEM3). VAR_062427
42 - 42
H -> Y (in NEM3; severe). VAR_015579
43 - 43
Q -> R (in NEM3). VAR_062428
44 - 44
G -> V (in NEM3). VAR_062429
45 - 45
V -> F (in NEM3). VAR_062430
66 - 66
I -> N (in NEM3). VAR_062431
68 - 68
T -> I (in NEM3). VAR_062432
74 - 74
E -> K (in NEM3). VAR_062433
75 - 75
H -> L (in NEM3). VAR_062434
75 - 75
H -> R (in NEM3). VAR_062435
77 - 77
I -> L (in NEM3). VAR_062436
79 - 79
T -> A (in NEM3). VAR_062437
85 - 85
E -> K (in NEM3). VAR_062438
96 - 96
L -> P (in NEM3; autosomal recessive). VAR_011681
116 - 116
A -> T (in NEM3). VAR_062439
117 - 117
N -> S (in NEM3; autosomal dominant). VAR_011682
117 - 117
N -> T (in NEM3). VAR_062440
118 - 118
R -> H (in NEM3). VAR_062441
134 - 134
M -> V (in NEM3; autosomal dominant). VAR_013470
136 - 136
V -> A (in NEM3). VAR_062442
138 - 138
I -> M (in NEM3; autosomal recessive). VAR_011683
140 - 140
A -> P (in NEM3). VAR_062443
142 - 142
L -> P (in NEM3). VAR_062444
148 - 148
G -> D (in NEM3). VAR_062445
150 - 150
T -> N (in NEM3). VAR_062446
156 - 156
D -> N (in NEM3). VAR_062447
165 - 165
V -> L (in MPCETM). VAR_011684
165 - 165
V -> M (in NEM3; results in sequestration of sarcomeric and Z line proteins into intranuclear aggregates; there is some evidence of muscle regeneration suggesting a compensatory effect). VAR_062448
172 - 172
A -> G (in NEM3). VAR_062449
181 - 181
D -> G (in NEM3). VAR_062450
181 - 181
D -> H (in NEM3). VAR_062451
181 - 181
D -> N (in NEM3). VAR_062452
184 - 184
G -> D (in NEM3; mild). VAR_015580
185 - 185
R -> C (in NEM3; severe). VAR_015582
185 - 185
R -> D (in NEM3; requires 2 nucleotide substitutions). VAR_062453
185 - 185
R -> G (in NEM3; autosomal dominant; severe). VAR_015581
185 - 185
R -> S (in NEM3). VAR_062454
198 - 198
R -> L (in NEM3). VAR_062455
199 - 199
G -> S (in NEM3). VAR_062456
223 - 223
L -> P (in CFTD). VAR_032917
226 - 226
E -> G (in NEM3). VAR_062457
226 - 226
E -> Q (in NEM3). VAR_062458
227 - 227
N -> V (in NEM3; requires 2 nucleotide substitutions). VAR_062459
229 - 229
M -> I (in NEM3). VAR_062460
229 - 229
M -> T (in NEM3). VAR_062461
229 - 229
M -> V (in NEM3). VAR_062462
243 - 243
E -> K (in NEM3). VAR_062463
248 - 248
Q -> K (in NEM3). VAR_062464
248 - 248
Q -> R (in NEM3). VAR_062465
253 - 253
G -> D (in NEM3). VAR_062466
258 - 258
R -> H (in NEM3; severe). VAR_015583
258 - 258
R -> L (in NEM3). VAR_062467
261 - 261
E -> V (in NEM3; autosomal recessive). VAR_011685
265 - 265
Q -> L (in NEM3; severe). VAR_015584
270 - 270
G -> C (in NEM3; autosomal dominant). VAR_011686
270 - 270
G -> D (in NEM3). VAR_062468
270 - 270
G -> R (in NEM3). VAR_062469
271 - 271
M -> R (in NEM3; autosomal dominant). VAR_013471
274 - 274
A -> E (in NEM3). VAR_062470
281 - 281
Y -> H (in NEM3). VAR_062471
282 - 282
N -> K (in NEM3; severe). VAR_015585
285 - 285
M -> K (in NEM3). VAR_062472
288 - 288
D -> G (in NEM3; severe). VAR_015586
294 - 294
D -> V (in CFTD; results in decreased motility due to abnormal interactions between actin and tropomyosin with tropomyosin stabilized in the 'off' position; the mutant protein incorporates into actin filaments and does not result in increased actin aggregation or disruption of the sarcomere). VAR_032918
334 - 334
P -> S (in CFTD). VAR_032919
336 - 336
E -> A (in NEM3). VAR_062473
338 - 338
K -> E (in NEM3). VAR_062474
338 - 338
K -> I (in NEM3). VAR_062475
350 - 350
S -> L (in NEM3). VAR_062476
359 - 359
I -> L (in NEM3; autosomal dominant; severe). VAR_015587
372 - 372
V -> F (in NEM3; severe). VAR_011687
374 - 374
R -> S (in NEM3). VAR_062477
375 - 375
K -> E (in NEM3). VAR_062478
375 - 375
K -> Q (in NEM3). VAR_062479
Database cross-references
UniProt:
P68133
Ensembl:
ENST00000366684
MIM:
102610
MIM:
161800
MIM:
255310
neXtProt:
NX_P68133
Antibodypedia:
P68133
(may not find the protein thus also not any antibody)
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