Gene table of ACTA1 : actin, alpha 1, skeletal muscle

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ACTA1	OMIM link	Number of associated genes	genes
PS161800	NEMALINE MYOPATHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	10	CFL2, TPM3, KLHL41, NEB, ACTA1, LMOD3, TNNT1, KBTBD13, TPM2, KLHL40
255310	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	TPM3, RYR1, ACTA1, SEPN1, MYH7
616852	MYOPATHY, SCAPULOHUMEROPERONEAL	ClinVar, OMIM	link to OMIM	1	ACTA1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Muscle contraction	R-HSA-397014	6.96
Striated Muscle Contraction	R-HSA-390522	7.81

Associated GO terms for Molecular function

GO term	GO ID	GO IC
structural constituent of cytoskeleton	GO:0005200	5.12
purine ribonucleoside triphosphate binding	GO:0035639	2.22
myosin binding	GO:0017022	5.66
binding	GO:0005488	0.18
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
structural molecule activity	GO:0005198	3.1
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
small molecule binding	GO:0036094	1.89
ADP binding	GO:0043531	6.24
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
cytoskeletal protein binding	GO:0008092	3.02
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19