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actin alpha 1, skeletal muscle

Summary

Gene Symbol

ACTA1

Aliases

NEM3
nemaline myopathy type 3

Organism

Homo sapiens (human)

External Links

NCBI Gene

HGNC

129

PubChem

Alliance of Genome Resources

HGNC:129

Annotation

Keyword

3D-structure
ATP-binding
Acetylation
Cytoskeleton
Disease variant
Hydrolase
Isopeptide bond
Methylation
Muscle protein
Nemaline myopathy
Oxidation
Reference proteome

Proteins

Displaying 1 entry
UniProt	Protein Name
P68133	Alpha-actin-1

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
muscle contraction	TAS	10508519
response to mechanical stimulus	IEA
positive regulation of gene expression	ISS
skeletal muscle thin filament assembly	IMP	11333380
skeletal muscle thin filament assembly	IBA

GO Hierarchy

biological process

cellular process [inference]

cellular developmental process [inference]

cell development [inference]

muscle cell development [inference]

myotube cell development [inference]

skeletal muscle fiber development

cellular response to stimulus [inference]

skeletal muscle fiber adaptation

cellular response to chemical stimulus [inference]

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to potassium ion

cellular response to oxygen-containing compound [inference]

cellular response to potassium ion

cellular response to salt [inference]

cellular response to potassium ion

cellular component organization or biogenesis [inference]

cellular component organization [inference]

supramolecular fiber organization [inference]

actin filament organization [inference]

skeletal muscle thin filament assembly

multicellular organismal process [inference]

system process [inference]

muscle system process [inference]

muscle contraction

tissue migration [inference]

mesenchyme migration

developmental process [inference]

anatomical structure development [inference]

cell development [inference]

muscle cell development [inference]

myotube cell development [inference]

skeletal muscle fiber development

cellular developmental process [inference]

cell development [inference]

muscle cell development [inference]

myotube cell development [inference]

skeletal muscle fiber development

response to stimulus [inference]

response to external stimulus [inference]

response to mechanical stimulus

response to abiotic stimulus [inference]

response to mechanical stimulus

response to endogenous stimulus [inference]

response to hormone [inference]

response to steroid hormone

response to chemical [inference]

response to organic substance [inference]

response to hormone [inference]

response to steroid hormone

response to organic cyclic compound [inference]

response to steroid hormone

response to lipid [inference]

response to steroid hormone

response to inorganic substance [inference]

response to metal ion [inference]

response to potassium ion [inference]

cellular response to potassium ion

cellular response to metal ion [inference]

cellular response to potassium ion

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to potassium ion

cellular response to chemical stimulus [inference]

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to potassium ion

cellular response to oxygen-containing compound [inference]

cellular response to potassium ion

cellular response to salt [inference]

cellular response to potassium ion

response to oxygen-containing compound [inference]

response to potassium ion [inference]

cellular response to potassium ion

cellular response to oxygen-containing compound [inference]

cellular response to potassium ion

response to salt [inference]

response to potassium ion [inference]

cellular response to potassium ion

cellular response to salt [inference]

cellular response to potassium ion

cellular response to stimulus [inference]

skeletal muscle fiber adaptation

cellular response to chemical stimulus [inference]

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to potassium ion

cellular response to oxygen-containing compound [inference]

cellular response to potassium ion

cellular response to salt [inference]

cellular response to potassium ion

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

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GO Term	Evidence Code	PMID
stress fiber	IDA	15198992
stress fiber	IBA
extracellular space	HDA	23580065
cytosol	TAS
striated muscle thin filament	IDA	15198992

GO Hierarchy

cellular component

cellular anatomical entity [inference]

actin filament bundle [inference]

contractile actin filament bundle [inference]

stress fiber

myofilament [inference]

striated muscle thin filament

actomyosin [inference]

stress fiber

cell projection [inference]

plasma membrane bounded cell projection [inference]

lamellipodium

actin-based cell projection [inference]

filopodium

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

actin cytoskeleton

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

actin cytoskeleton

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

actin filament

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GO Term	Evidence Code	PMID
structural constituent of cytoskeleton	TAS	10508519
protein binding	IPI	12849983 18835984 28514442 32814053 33961781
ATP binding	TAS	10508519
hydrolase activity	IEA
myosin binding	TAS	10508519

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity

structural molecule activity [inference]

structural constituent of cytoskeleton

binding [inference]

protein binding

cytoskeletal protein binding [inference]

myosin binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

ADP binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

actin, alpha cardiac muscle 1

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
P: Inorganic ion transport and metabolism

Displaying **all 3** entries
Gene Ontology
ATP binding
hydrolase activity
nucleotide binding

Displaying **all 4** entries
InterPro
ATPase, nucleotide binding domain
Actin family
Actin, conserved site
Actin/actin-like conserved site

Human Protein Atlas

ENSG00000143632

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0081339	congenital myopathy 2B	Alliance of Genome Resources
DOID:0081340	congenital myopathy 2C	Alliance of Genome Resources
DOID:0110927	nemaline myopathy 3	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000218	High palate
HP:0000239	Large fontanelles
HP:0000275	Narrow face
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000298	Mask-like facies

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Disease ID	Disease Name
ORPHA:97244	rigid spine syndrome
OMIM:616852	progressive scapulohumeroperoneal distal myopathy
ORPHA:171439	childhood-onset nemaline myopathy
OMIM:161800	nemaline myopathy 3
ORPHA:171436	typical nemaline myopathy
ORPHA:97240	zebra body myopathy
ORPHA:2020	congenital fiber-type disproportion myopathy
ORPHA:171430	severe congenital nemaline myopathy
OMIM:620278	congenital myopathy 2c, severe infantile, autosomal dominant
ORPHA:171433	intermediate nemaline myopathy

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	58	Xenbase:XB-GENE-22063999
Saccharomyces cerevisiae S288C	59	SGD:S000001855
Saccharomyces cerevisiae S288C	60	SGD:S000001855
Saccharomyces cerevisiae S288C	70	SGD:S000001855
Saccharomyces cerevisiae S288C	71	SGD:S000001855
Mus musculus	11459	Xenbase:XB-GENE-22063999	MOUSE59418
Saccharomyces cerevisiae S288C	11461	SGD:S000001855
Mus musculus	11464	SGD:S000001855	MOUSE35547
Saccharomyces cerevisiae S288C	11465	SGD:S000001855
Mus musculus	11468		MOUSE49024

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External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements