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actin alpha cardiac muscle 1

Summary

Gene Symbol

ACTC1

Aliases

CMD1R

Organism

Homo sapiens (human)

External Links

NCBI Gene

HGNC

143

PubChem

Alliance of Genome Resources

HGNC:143

Annotation

Keyword

3D-structure
ATP-binding
Acetylation
Atrial septal defect
Cardiomyopathy
Cytoskeleton
Disease variant
Hydrolase
Isopeptide bond
Methylation
Muscle protein
Oxidation
Reference proteome

Proteins

Displaying **all 2** entries
UniProt	Protein Name
B3KPP5
P68032	Alpha-cardiac actin

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
actin filament organization	IBA
positive regulation of gene expression	ISS
actin filament-based movement	IDA	16611632
skeletal muscle thin filament assembly	ISS
actomyosin structure organization	ISS

GO Hierarchy

biological process

cellular process [inference]

actin filament-based process [inference]

actin cytoskeleton organization [inference]

actomyosin structure organization

myofibril assembly [inference]

cardiac myofibril assembly

actin filament-based movement

actin-mediated cell contraction [inference]

actin-myosin filament sliding

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

actin cytoskeleton organization [inference]

actomyosin structure organization

myofibril assembly [inference]

cardiac myofibril assembly

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

myofibril assembly [inference]

cardiac myofibril assembly

cellular component assembly [inference]

cellular component assembly involved in morphogenesis [inference]

myofibril assembly [inference]

cardiac myofibril assembly

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

myofibril assembly [inference]

cardiac myofibril assembly

supramolecular fiber organization [inference]

actin filament organization

skeletal muscle thin filament assembly

myofibril assembly [inference]

cardiac myofibril assembly

multicellular organismal process [inference]

system process [inference]

circulatory system process [inference]

heart process [inference]

heart contraction

tissue migration [inference]

mesenchyme migration

developmental process [inference]

anatomical structure morphogenesis [inference]

tissue morphogenesis [inference]

muscle tissue morphogenesis [inference]

cardiac muscle tissue morphogenesis

anatomical structure formation involved in morphogenesis [inference]

cellular component assembly involved in morphogenesis [inference]

myofibril assembly [inference]

cardiac myofibril assembly

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

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

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

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

negative regulation of apoptotic process

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

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

negative regulation of cellular process [inference]

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
extracellular space	HDA	22664934 23580065
cytoplasm	IDA	20962418
cytosol	TAS
actin filament	IDA	16611632 19799913
actin filament	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cell junction [inference]

synapse [inference]

glutamatergic synapse

anchoring junction [inference]

cell-substrate junction [inference]

focal adhesion

I band

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
microfilament motor activity	IDA	16611632 17765196
protein binding	IPI	30021884 33961781
ATP binding	IDA	16611632
hydrolase activity	IEA
myosin binding	IDA	19799913

GO Hierarchy

molecular function

cytoskeletal motor activity [inference]

microfilament motor activity

catalytic activity [inference]

hydrolase activity

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]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP 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]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ATP-dependent activity [inference]

microfilament motor activity

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
J: Translation, ribosomal structure and biogenesis
T: Signal transduction mechanisms

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

ENSG00000159251

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 4** entries
DO ID	Disease Name	Source
DOID:0110110	atrial heart septal defect 5	Alliance of Genome Resources
DOID:0110317	hypertrophic cardiomyopathy 11	Alliance of Genome Resources
DOID:0110456	dilated cardiomyopathy 1R	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **41 - 50** of 61 in total

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HPO ID	HPO Term
HP:0005133	Right ventricular dilatation
HP:0005162	Abnormal left ventricular function
HP:0005180	Tricuspid regurgitation
HP:0005317	Increased pulmonary vascular resistance
HP:0005957	Breathing dysregulation
HP:0006536	Airway obstruction
HP:0010741	Pedal edema
HP:0011462	Young adult onset
HP:0011463	Childhood onset
HP:0011675	Arrhythmia

Displaying **all 5** entries
Disease ID	Disease Name
OMIM:612098	hypertrophic cardiomyopathy 11
OMIM:613424	dilated cardiomyopathy 1R
OMIM:612794	atrial septal defect 5
ORPHA:154	dilated cardiomyopathy 1KK obsolete familial isolated dilated cardiomyopathy
ORPHA:99103	atrial septal defect, ostium secundum type

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

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Species	Gene ID	Orthologous MAtrix
Ciona intestinalis	100184134	CIOIN10005
Ciona intestinalis	100185123	CIOIN11931
Ciona intestinalis	100186048	CIOIN09394
Salmo salar	100194557	SALSA70990
Ictalurus punctatus	100304861	ICTPU05245
Oryctolagus cuniculus	100340339	RABIT06206
Callithrix jacchus	100398865	CALJA00948
Pongo abelii	100442237	PONAB09093
Ictalurus punctatus	100528996	ICTPU35164
Oreochromis niloticus	100534411	ORENI30198

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Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements