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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

KEGG Gene ID

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
Proteomics identification
Reference proteome

Proteins

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
muscle contraction	TAS
positive regulation of gene expression	ISS
skeletal muscle thin filament assembly	IMP
skeletal muscle thin filament assembly	IBA
skeletal muscle fiber development	ISS

GO Hierarchy

biological process

cellular process [inference]

cellular developmental process [inference]

cell development [inference]

muscle cell development [inference]

striated muscle cell development [inference]

myotube cell development [inference]

skeletal muscle fiber development

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]

striated muscle cell development [inference]

myotube cell development [inference]

skeletal muscle fiber development

cellular developmental process [inference]

cell development [inference]

muscle cell development [inference]

striated muscle cell development [inference]

myotube cell development [inference]

skeletal muscle fiber development

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of 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

regulation of cellular process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

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 metabolic process [inference]

positive regulation of 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

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 cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of 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

Displaying entries **6 - 10** of 18 in total

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GO Term	Evidence Code	PMID
cytoskeleton	IEA
striated muscle thin filament	IDA
striated muscle thin filament	IBA
actin filament	IDA
actin filament	IBA

GO Hierarchy

cellular component

cellular anatomical structure [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

membraneless organelle [inference]

intracellular membraneless organelle [inference]

cytoskeleton

actin cytoskeleton

intracellular organelle [inference]

intracellular membraneless organelle [inference]

cytoskeleton

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

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
structural constituent of cytoskeleton	TAS
structural constituent of cytoskeleton	IBA
protein binding	IPI
ATP binding	TAS
hydrolase activity

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]

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

ADP binding

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]

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide 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

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:0081340	congenital myopathy 2C	Alliance of Genome Resources
DOID:0081339	congenital myopathy 2B	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:161800	nemaline myopathy 3
OMIM:620265	congenital myopathy 2b, severe infantile, autosomal recessive
ORPHA:171439	childhood-onset nemaline myopathy
ORPHA:97240	zebra body myopathy
OMIM:620278	congenital myopathy 2c, severe infantile, autosomal dominant
ORPHA:171433	intermediate nemaline myopathy
ORPHA:171436	typical nemaline myopathy
OMIM:616852	progressive scapulohumeroperoneal distal myopathy
ORPHA:171430	severe congenital nemaline myopathy

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying **all 2** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	11459	MGI:87902
Rattus norvegicus	29437	RGD:2025

GlyTouCan

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UniCarb-DR

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Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements