InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACTA1

Summary

InnateDB Protein

IDBP-107313.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACTA1

Protein Name

actin, alpha 1, skeletal muscle

Synonyms

ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1; NEM2; NEM3;

Species

Homo sapiens

Ensembl Protein

ENSP00000355645

InnateDB Gene

IDBG-107311 (ACTA1)

Protein Structure

UniProt Annotation

Function

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Subcellular Localization

Cytoplasm, cytoskeleton.

Disease Associations

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. {ECO:0000269PubMed:10508519, ECO:0000269PubMed:11166164, ECO:0000269PubMed:11333380, ECO:0000269PubMed:15198992, ECO:0000269PubMed:15236405, ECO:0000269PubMed:15336687, ECO:0000269PubMed:15520409, ECO:0000269PubMed:16427282, ECO:0000269PubMed:16945537}. 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. {ECO:0000269PubMed:10508519}. 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. {ECO:0000269PubMed:15468086}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 108 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	108 [view]
Protein-Protein	108 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0017022	myosin binding
GO:0043531	ADP binding

Biological Process

GO:0006936	muscle contraction
GO:0009612	response to mechanical stimulus
GO:0009991	response to extracellular stimulus
GO:0010226	response to lithium ion
GO:0016049	cell growth
GO:0030049	muscle filament sliding
GO:0030240	skeletal muscle thin filament assembly
GO:0043503	skeletal muscle fiber adaptation
GO:0048545	response to steroid hormone
GO:0048741	skeletal muscle fiber development

Cellular Component

GO:0001725	stress fiber
GO:0005615	extracellular space
GO:0005829	cytosol
GO:0005865	striated muscle thin filament
GO:0005884	actin filament
GO:0015629	actin cytoskeleton
GO:0030017	sarcomere
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle