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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 11 in total

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GO Term	Evidence Code	PMID
actin filament-based movement	IDA	16611632
cardiac myofibril assembly	ISS
actin-myosin filament sliding	IBA IMP	19799913
mesenchyme migration	ISS
negative regulation of apoptotic process	IEA

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 15 in total

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GO Term	Evidence Code	PMID
filopodium	ISS
lamellipodium	ISS
I band	ISS
glutamatergic synapse	IEA
blood microparticle	HDA	22516433

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

Displaying **all 5** entries
GO Term	Evidence Code	PMID
ATP binding	IDA	16611632
myosin binding	IBA IDA IPI	16611632 19799913
hydrolase activity	IEA
protein binding	IPI	30021884 33961781
microfilament motor activity	IDA	16611632 17765196

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
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

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 entries **1 - 10** of 12 in total

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DO ID	Disease Name	Source
DOID:0081112	Baraitser-Winter syndrome 1	Alliance of Genome Resources
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:0110550	autosomal dominant nonsyndromic deafness 20	Alliance of Genome Resources
DOID:10486	intestinal atresia	Alliance of Genome Resources
DOID:10763	hypertension	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy	Alliance of Genome Resources
DOID:13099	Moyamoya disease	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 61 in total

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000961	Cyanosis
HP:0000969	Edema
HP:0001279	Syncope
HP:0001297	Stroke
HP:0001631	Atrial septal defect
HP:0001633	Abnormal mitral valve morphology
HP:0001635	Congestive heart failure
HP:0001639	Hypertrophic cardiomyopathy

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

PubChem Disease

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
Mus musculus	11459		MOUSE59418
Mus musculus	11464	MGI:87905	MOUSE35547
Mus musculus	11468		MOUSE49024
Mus musculus	11475		MOUSE25390
Rattus norvegicus	25365		RATNO30973
Rattus norvegicus	29275	RGD:2026	RATNO26061
Rattus norvegicus	29437		RATNO14939
Danio rerio	58114	ZFIN:ZDB-GENE-000322-1
Rattus norvegicus	81633		RATNO16338
Danio rerio	322509		DANRE03740

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements