MuscleDB::A Gene Database for Skeletal Muscle

Actin, alpha 1, skeletal muscle gene (Gene Id: 58 Symbol: ACTA1) in Homo sapiens

Functional stage: Cytoskeletal organization

Involved disease information

Category	Linked disease	Linked articles	Other references
Muscular dystrophy	Congenital muscular dystrophy	25182138	NA
Muscular dystrophy	Nemaline myopathy	23029319	NA
Congenital muscular dystrophy: Congenital muscular dystrophy (CMD) is a general term for a group of genetic muscle diseases that occur at birth (congenital) or early during infancy. CMDs are generally characterized by diminished muscle tone (hypotonia), which is sometimes referred to as 'floppy baby'; progressive muscle weakness and degeneration (atrophy); abnormally fixed joints that occur when thickening and shortening of tissue such as muscle fibers cause deformity and restrict the movement of an affected area (contractures); spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. https://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/
Nemaline myopathy: Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur. https://ghr.nlm.nih.gov/condition/nemaline-myopathy

Refseq information: 4

SNo.	Status	RNA nucleotide accession	Protein accession	Genomic nucleotide accession	Start position on genomic DNA	End position on genomic DNA	Orientation	Assembly	Symbol	UniProtkb ID	PDB ID
1	REVIEWED	-	-	NG_006672.1	5000	7851	+	-	ACTA1	P68133	1T44
2	REVIEWED	NM_001100.3	NP_001091.1	NC_000001.11	229431244	229434095	-	Reference GRCh3	ACTA1	P68133	1T44
3	REVIEWED	NM_001100.3	NP_001091.1	NC_018912.2	230839338	230842182	-	Alternate CHM1_	ACTA1	P68133	1T44
4	REVIEWED	NM_001100.3	NP_001091.1	NG_006672.1	5000	7851	+	-	ACTA1	P68133	1T44

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Pubmed links

648524 1074709 1383230 1423520 1540415 1544421 1808202 1907279 1991513 2161834 2395459 2455687 2907503 2936753 3793760 3842206 6190133 6865942 6893424 7503723 7642559 7680654 7703225 7780165 7816144 7820861 7908020 7908614 8258301 8395021 8399167 8413665 8416954 8422497 8567732 8612804 8661406 8892894 8997639 8999969 9153421 9199170 9214391 9251807 9298982 9417078 9490638 9512503 9645951 9668039 9695962 9724539 9792688 9832551 9841925 9852149 9971772 10049817 10072583 10074138 10224093 10320340 10366597 10438535 10491393 10508519 10556093 10559237 10564664 10575001 10581178 10583954 10601340 10628374 10666339 10793131 10806479 10882740 10958653 10984435 11018051 11027608 11053353 11071908 11090452 11102443 11106625 11166164 11171322 11259305 11297527 11309382 11333380 11415434 11429692 11438522 11441066 11461920 11468283 11481347 11524436 11536049 11580270 11583571 11687588 11691822 11701614 11702052 11707283 11709093 11795944 11812134 11821948 11839310 11850458 11877456 11889126 11897493 11950878 11969288 12006649 12009869 12033495 12044158 12048248 12062430 12119014 12127568 12163017 12210873 12383268 12384700 12388543 12417592 12417594 12438125 12438242 12466270 12475945 12477932 12480535 12534372 12554937 12571245 12665555 12695497 12714565 12721663 12849983 12857853 14506234 14507647 14576350 14592989 14594945 14634002 14640694 14668487 14676314 14684598 14688263 14690596 14694110 14702039 14966270 15059972 15072110 15107502 15149849 15152255 15198992 15236405 15336687 15454575 15468086 15489334 15494313 15507486 15520409 15558034 15679046 15772115 16009940 16051665 16109371 16427282 16461343 16501887 16526095 16568092 16751776 16916647 16945536 17010111 17082770 17194691 17194709 17266347 17360745 17361185 17387733 17411366 17504171 17573780 17620599 18063690 18157088 18443296 18461503 18662664 18775311 18835984 18976909 19002257 19150851 19199708 19233165 19380743 19383239 19389844 19454010 19553474 19562689 19634497 19635823 19639585 19710135 19819966 19883584 19934221 19948975 20100475 20147394 20169155 20179953 20201926 20301436 20301465 20305087 20332100 20378355 20388088 20391533 20452215 20630939 20686692 20716950 20718862 20809254 20826790 21079800 21080425 21108927 21145461 21151833 21199870 21203488 21319273 21340023 21362503 21385873 21464227 21514153 21606541 21691712 21723825 21764995 21824169 21912905 21917091 21923909 21931536 21975552 21994733 21994736 22004035 22017400 22028271 22031939 22081313 22119785 22209233 22362758 22465675 22516433 22535526 22537596 22640593 22721673 22773844 22863883 22989508 23017337 23042265 23071112 23071671 23174700 23176180 23178941 23190606 23229356 23246001 23247112 23260110 23294842 23353701 23376163 23420843 23443559 23533145 23575248 23580065 23656990 23811015 23831272 23875777 24106267 24189400 24255178 24292274 24307588 24313005 24576301 24706755 24711643 24742657 24778234 24789788 24789789 25182138 25231990 25324306 25527710 25745180 25746564 25747004 25895516 25913210 25921289 25938801 25963833 26172852 26186194 26295568 26465331 26493222 26496610 26506308 27074222 27560372 27880917 28190767 28337446 28341124 28514442

GO Term: 29
SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	-	stress fiber	Component	15198992
2	Homo sapiens	TAS	-	structural constituent of cytoskeleton	Function	10508519
3	Homo sapiens	IPI	-	protein binding	Function	12849983
4	Homo sapiens	TAS	-	ATP binding	Function	10508519
5	Homo sapiens	IDA	-	extracellular space	Component	23580065
6	Homo sapiens	TAS	-	cytosol	Component	No
7	Homo sapiens	IDA	-	striated muscle thin filament	Component	15198992
8	Homo sapiens	IDA	-	actin filament	Component	12849983
9	Homo sapiens	TAS	-	muscle contraction	Process	10508519
10	Homo sapiens	IEA	-	response to mechanical stimulus	Process	No
11	Homo sapiens	IEA	-	response to extracellular stimulus	Process	No
12	Homo sapiens	IEA	-	response to lithium ion	Process	No
13	Homo sapiens	ISS	-	positive regulation of gene expression	Process	No
14	Homo sapiens	IMP	-	actin cytoskeleton	Component	15198992
15	Homo sapiens	IEA	-	cell growth	Process	No
16	Homo sapiens	TAS	-	myosin binding	Function	10508519
17	Homo sapiens	IDA	-	sarcomere	Component	1423520
18	Homo sapiens	ISS	-	lamellipodium	Component	No
19	Homo sapiens	TAS	-	muscle filament sliding	Process	No
20	Homo sapiens	ISS	-	filopodium	Component	No
21	Homo sapiens	IMP	-	skeletal muscle thin filament assembly	Process	11333380
22	Homo sapiens	IEA	-	skeletal muscle fiber adaptation	Process	No
23	Homo sapiens	TAS	-	ADP binding	Function	10508519
24	Homo sapiens	ISS	-	cell body	Component	No
25	Homo sapiens	IEA	-	response to steroid hormone	Process	No
26	Homo sapiens	ISS	-	skeletal muscle fiber development	Process	No
27	Homo sapiens	IDA	-	extracellular exosome	Component	19199708
28	Homo sapiens	IDA	-	blood microparticle	Component	22516433
29	Homo sapiens	ISS	-	mesenchyme migration	Process	No