GlyCosmos Portal

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

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

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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
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 **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 **31 - 40** of 61 in total

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HPO ID	HPO Term
HP:0003581	Adult onset
HP:0003584	Late onset
HP:0003596	Middle age onset
HP:0003621	Juvenile onset
HP:0004308	Ventricular arrhythmia
HP:0004749	Atrial flutter
HP:0004755	Supraventricular tachycardia
HP:0004756	Ventricular tachycardia
HP:0005110	Atrial fibrillation
HP:0005115	Supraventricular arrhythmia

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

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **1 - 10** of **218** in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Saccharomyces cerevisiae S288C	58	SGD:S000001855
Saccharomyces cerevisiae S288C	59	SGD:S000001855
Saccharomyces cerevisiae S288C	60	SGD:S000001855
Xenopus tropicalis	70	Xenbase:XB-GENE-480347
Saccharomyces cerevisiae S288C	71	SGD:S000001855
Mus musculus	11459	SGD:S000001855	MOUSE59418
Saccharomyces cerevisiae S288C	11461	SGD:S000001855
Mus musculus	11464	Xenbase:XB-GENE-480347	MOUSE35547
Saccharomyces cerevisiae S288C	11465	SGD:S000001855
Mus musculus	11468		MOUSE49024

GlyTouCan

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UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements