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obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Summary

Gene Symbol

OBSCN

Organism

Homo sapiens (human)

External Links

NCBI Gene

84033

PubChem

84033

Alliance of Genome Resources

HGNC:15719

Annotation

Keyword

3D-structure
ATP-binding
Alternative splicing
Calmodulin-binding
Cell membrane
Chromosomal rearrangement
Coiled coil
Cytoplasm
Developmental protein
Differentiation
Disease variant
Disulfide bond
Immunoglobulin domain
Lipid-binding
Magnesium
Metal-binding
Muscle protein
Nucleus
Phosphoprotein
Reference proteome
Repeat
SH3 domain
Serine/threonine-protein kinase

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q5VST9	Obscurin-RhoGEF Obscurin-myosin light chain kinase
A6NGQ3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
regulation of small GTPase mediated signal transduction	TAS
sarcomere organization	TAS	18782775
protein phosphorylation	IEA
protein localization to M-band	ISS	18782775
chromatin remodeling	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

protein phosphorylation

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation

macromolecule modification [inference]

protein modification process [inference]

protein phosphorylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation

cellular process [inference]

actin filament-based process [inference]

actin cytoskeleton organization [inference]

actomyosin structure organization [inference]

sarcomere organization

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

protein phosphorylation

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to M-band

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

actin cytoskeleton organization [inference]

actomyosin structure organization [inference]

sarcomere organization

protein-containing complex organization [inference]

protein-DNA complex organization [inference]

chromatin organization [inference]

chromatin remodeling

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to M-band

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to M-band

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of intracellular signal transduction [inference]

regulation of small GTPase mediated signal transduction

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of intracellular signal transduction [inference]

regulation of small GTPase mediated signal transduction

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of intracellular signal transduction [inference]

regulation of small GTPase mediated signal transduction

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

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GO Term	Evidence Code	PMID
sarcolemma	IEA
myofibril	NAS	11717165
plasma membrane	IDA
nuclear body	IDA
M band	ISS	11717165 18782775

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

membrane [inference]

plasma membrane

sarcolemma

organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

contractile fiber [inference]

myofibril

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

contractile fiber [inference]

myofibril

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

contractile fiber [inference]

myofibril

Displaying entries **16 - 17** of 17 in total

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GO Term	Evidence Code	PMID
phosphatidylinositol-5-phosphate binding	IDA	28826662
histone H2AS1 kinase activity	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

kinase activity [inference]

protein kinase activity [inference]

protein serine/threonine kinase activity

histone H2AS1 kinase activity

histone kinase activity [inference]

histone H2A kinase activity [inference]

histone H2AS1 kinase activity

protein serine kinase activity

phosphotransferase activity, alcohol group as acceptor [inference]

protein kinase activity [inference]

protein serine/threonine kinase activity

histone H2AS1 kinase activity

histone kinase activity [inference]

histone H2A kinase activity [inference]

histone H2AS1 kinase activity

protein serine kinase activity

catalytic activity, acting on a protein [inference]

protein kinase activity [inference]

protein serine/threonine kinase activity

histone H2AS1 kinase activity

histone kinase activity [inference]

histone H2A kinase activity [inference]

histone H2AS1 kinase activity

protein serine kinase activity

histone modifying activity [inference]

histone kinase activity [inference]

histone H2A kinase activity [inference]

histone H2AS1 kinase activity

structural molecule activity [inference]

structural constituent of muscle

binding [inference]

protein binding

calmodulin binding

cytoskeletal protein binding [inference]

lipid binding [inference]

phospholipid binding [inference]

phosphatidylinositol binding [inference]

phosphatidylinositol phosphate binding [inference]

phosphatidylinositol bisphosphate binding [inference]

phosphatidylinositol-4,5-bisphosphate 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

phosphatidylinositol-3,4-bisphosphate binding

cation binding [inference]

metal ion 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

molecular function regulator activity [inference]

enzyme regulator activity [inference]

nucleoside-triphosphatase regulator activity [inference]

GTPase regulator activity [inference]

guanyl-nucleotide exchange factor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

obscurin

Functional Category

K: Transcription
M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones

Displaying **all 2** entries
Gene Ontology
kinase activity
phosphorylation

Displaying **all 4** entries
InterPro
Immunoglobulin I-set
Immunoglobulin-like domain superfamily
Immunoglobulin-like domain
Immunoglobulin-like fold

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:12930	dilated cardiomyopathy	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 17 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	43814		FB:FBgn0005666
Rattus norvegicus	338458		RGD:631335	RATNO01933
Mus musculus	380698		MGI:2681862	MOUSE03341
Danio rerio	445358		ZFIN:ZDB-GENE-040812-4
Pan troglodytes	457798	9598_0:00077b		PANTR23867
Macaca mulatta	703527			MACMU06201
Callithrix jacchus	100389254			CALJA16917
Pongo abelii	100451393	9601_0:0002bb		PONAB17607
Pan paniscus	100978824	9597_0:00080a		PANPA03941
Gorilla gorilla gorilla	101133709	9595_0:000610		GORGO20637

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Other Information

Tools

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements