###Gene summary
#Tax_id	Org_name	GeneID	status	Symbol	Functional_stage	Aliases	Description	Other_designations	Map_location	Chromosome	Genomic_nucleotide_accession	Start_pos_on_genomic_acc	End_pos_on_genomic_acc	Orientation	Exon_count	OMIM
9606	Homo sapiens	58	live	ACTA1	Cytoskeletal organization	ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, SHPM	Actin, alpha 1, skeletal muscle,actin, alpha skeletal muscle|nemaline myopathy type 3	1q42.13	1	NC_000001.11	229431245	229434096	minus	7	102610


###Disease involvement
#GeneID	Symbol	Category	Disease	PubMedID	Other reference
58	ACTA1	Muscular dystrophy	Nemaline myopathy	23029319	-
58	ACTA1	Muscular dystrophy	Congenital muscular dystrophy	25182138	-
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.
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.


###RefSeq information
#SNo.	GeneID	Symbol	Status	RNA_nuc_accver	CDPpos	Prot_accver	Genomic_nuc_accver	Start_pos_on_genomic_acc	End_pos_on_genomic_acc	Orientation	Assembly	Mature_peptide_accver	UniProtKBID	PDBID
1	58	ACTA1	REVIEWED	-		-	NG_006672.1	5000	7851	+	-	-	P68133	1T44
2	58	ACTA1	REVIEWED	NM_001100.3	106..1239	NP_001091.1	NC_000001.11	229431244	229434095	-	Reference GRCh3	-	P68133	1T44
3	58	ACTA1	REVIEWED	NM_001100.3	106..1239	NP_001091.1	NC_018912.2	230839338	230842182	-	Alternate CHM1_	-	P68133	1T44
4	58	ACTA1	REVIEWED	NM_001100.3	106..1239	NP_001091.1	NG_006672.1	5000	7851	+	-	-	P68133	1T44


###Gene Ontology
#SNo.	TaxonID	GeneID	GOID	Evidence	Qualifier	GOterm	PubMedID	Category
1	9606	58	GO:0001725	IDA	-	stress fiber	15198992	Component
2	9606	58	GO:0005200	TAS	-	structural constituent of cytoskeleton	10508519	Function
3	9606	58	GO:0005515	IPI	-	protein binding	12849983	Function
4	9606	58	GO:0005524	TAS	-	ATP binding	10508519	Function
5	9606	58	GO:0005615	IDA	-	extracellular space	23580065	Component
6	9606	58	GO:0005829	TAS	-	cytosol	0	Component
7	9606	58	GO:0005865	IDA	-	striated muscle thin filament	15198992	Component
8	9606	58	GO:0005884	IDA	-	actin filament	12849983	Component
9	9606	58	GO:0006936	TAS	-	muscle contraction	10508519	Process
10	9606	58	GO:0009612	IEA	-	response to mechanical stimulus	0	Process
11	9606	58	GO:0009991	IEA	-	response to extracellular stimulus	0	Process
12	9606	58	GO:0010226	IEA	-	response to lithium ion	0	Process
13	9606	58	GO:0010628	ISS	-	positive regulation of gene expression	0	Process
14	9606	58	GO:0015629	IMP	-	actin cytoskeleton	15198992	Component
15	9606	58	GO:0016049	IEA	-	cell growth	0	Process
16	9606	58	GO:0017022	TAS	-	myosin binding	10508519	Function
17	9606	58	GO:0030017	IDA	-	sarcomere	1423520	Component
18	9606	58	GO:0030027	ISS	-	lamellipodium	0	Component
19	9606	58	GO:0030049	TAS	-	muscle filament sliding	0	Process
20	9606	58	GO:0030175	ISS	-	filopodium	0	Component
21	9606	58	GO:0030240	IMP	-	skeletal muscle thin filament assembly	11333380	Process
22	9606	58	GO:0043503	IEA	-	skeletal muscle fiber adaptation	0	Process
23	9606	58	GO:0043531	TAS	-	ADP binding	10508519	Function
24	9606	58	GO:0044297	ISS	-	cell body	0	Component
25	9606	58	GO:0048545	IEA	-	response to steroid hormone	0	Process
26	9606	58	GO:0048741	ISS	-	skeletal muscle fiber development	0	Process
27	9606	58	GO:0070062	IDA	-	extracellular exosome	19199708	Component
28	9606	58	GO:0072562	IDA	-	blood microparticle	22516433	Component
29	9606	58	GO:0090131	ISS	-	mesenchyme migration	0	Process