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titin

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

7273

PubChem

7273

Alliance of Genome Resources

HGNC:12403

Annotation

Keyword

3D-structure
ATP-binding
Alternative splicing
Calcium
Calmodulin-binding
Cardiomyopathy
Coiled coil
Cytoplasm
Direct protein sequencing
Disease variant
Disulfide bond
Immunoglobulin domain
Limb-girdle muscular dystrophy
Magnesium
Metal-binding
Myofibrillar myopathy
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Serine/threonine-protein kinase

Proteins

Displaying **all 4** entries
UniProt	Protein Name
A0A0A0MTS7
Q7Z3B7
A0A0A0MRA3
Q8WZ42	Connectin Rhabdomyosarcoma antigen MU-RMS-40.14

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 29 in total

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GO Term	Evidence Code	PMID
skeletal muscle contraction	NAS	16407954
cardiac muscle hypertrophy	IMP	11846417
chromatin remodeling	IEA
protein phosphorylation
muscle contraction	NAS	10481174

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]

signal transduction [inference]

intracellular signal transduction [inference]

protein kinase A signaling

cell cycle process [inference]

mitotic cell cycle process [inference]

mitotic chromosome condensation

actin filament-based process [inference]

actin cytoskeleton organization [inference]

actomyosin structure organization [inference]

myofibril assembly [inference]

cardiac myofibril assembly

myosin filament organization [inference]

myosin filament assembly [inference]

striated muscle myosin thick filament assembly [inference]

skeletal muscle myosin thick filament assembly

actin filament-based movement [inference]

actin-mediated cell contraction [inference]

actin-myosin filament sliding [inference]

muscle filament sliding

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

protein phosphorylation

cellular developmental process [inference]

cell development [inference]

muscle cell development [inference]

cardiac muscle cell development

cardiac cell development [inference]

cardiac muscle cell development

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

actin cytoskeleton organization [inference]

actomyosin structure organization [inference]

myofibril assembly [inference]

cardiac myofibril assembly

myosin filament organization [inference]

myosin filament assembly [inference]

striated muscle myosin thick filament assembly [inference]

skeletal muscle myosin thick filament assembly

chromosome organization [inference]

chromosome condensation [inference]

mitotic chromosome condensation

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

striated muscle myosin thick filament assembly [inference]

skeletal muscle myosin thick filament assembly

protein-containing complex assembly [inference]

myosin filament assembly [inference]

striated muscle myosin thick filament assembly [inference]

skeletal muscle myosin thick filament assembly

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

myofibril assembly [inference]

cardiac myofibril assembly

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

myosin filament assembly [inference]

striated muscle myosin thick filament assembly [inference]

skeletal muscle myosin thick filament assembly

protein-DNA complex organization [inference]

chromatin organization [inference]

chromatin remodeling

supramolecular fiber organization [inference]

actin filament organization [inference]

skeletal muscle thin filament assembly

myofibril assembly [inference]

cardiac myofibril assembly

myosin filament organization [inference]

myosin filament assembly [inference]

striated muscle myosin thick filament assembly [inference]

skeletal muscle myosin thick filament assembly

multicellular organismal process [inference]

system process [inference]

muscle system process [inference]

muscle contraction

striated muscle contraction

muscle hypertrophy [inference]

striated muscle hypertrophy [inference]

cardiac muscle hypertrophy

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

striated muscle myosin thick filament assembly [inference]

skeletal muscle myosin thick filament assembly

anatomical structure development [inference]

cell development [inference]

muscle cell development [inference]

cardiac muscle cell development

cardiac cell development [inference]

cardiac muscle cell development

cellular developmental process [inference]

cell development [inference]

muscle cell development [inference]

cardiac muscle cell development

cardiac cell development [inference]

cardiac muscle cell development

response to stimulus [inference]

response to external stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus [inference]

detection of muscle stretch

response to mechanical stimulus [inference]

response to muscle stretch [inference]

detection of muscle stretch

detection of mechanical stimulus [inference]

detection of muscle stretch

response to abiotic stimulus [inference]

detection of abiotic stimulus [inference]

detection of mechanical stimulus [inference]

detection of muscle stretch

response to mechanical stimulus [inference]

response to muscle stretch [inference]

detection of muscle stretch

detection of mechanical stimulus [inference]

detection of muscle stretch

response to chemical [inference]

response to organic substance [inference]

response to calcium ion

response to inorganic substance [inference]

response to metal ion [inference]

response to calcium ion

response to oxygen-containing compound [inference]

response to calcium ion

response to salt [inference]

response to calcium ion

detection of stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus [inference]

detection of muscle stretch

detection of abiotic stimulus [inference]

detection of mechanical stimulus [inference]

detection of muscle stretch

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

regulation of localization [inference]

regulation of transport [inference]

regulation of secretion [inference]

positive regulation of secretion [inference]

positive regulation of secretion by cell [inference]

positive regulation of protein secretion

regulation of secretion by cell [inference]

regulation of protein secretion [inference]

positive regulation of protein secretion

positive regulation of secretion by cell [inference]

positive regulation of protein secretion

positive regulation of transport [inference]

positive regulation of secretion [inference]

positive regulation of secretion by cell [inference]

positive regulation of protein secretion

positive regulation of protein transport [inference]

positive regulation of protein secretion

regulation of protein transport [inference]

regulation of protein secretion [inference]

positive regulation of protein secretion

positive regulation of protein transport [inference]

positive regulation of protein secretion

regulation of cellular localization [inference]

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of protein transport [inference]

regulation of protein secretion [inference]

positive regulation of protein secretion

positive regulation of protein transport [inference]

positive regulation of protein secretion

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of protein secretion

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of protein secretion

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

positive regulation of secretion by cell [inference]

positive regulation of protein secretion

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of protein secretion

positive regulation of transport [inference]

positive regulation of secretion [inference]

positive regulation of secretion by cell [inference]

positive regulation of protein secretion

positive regulation of protein transport [inference]

positive regulation of protein secretion

regulation of cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

protein kinase A signaling

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

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

positive regulation of secretion by cell [inference]

positive regulation of protein secretion

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of protein secretion

regulation of cellular localization [inference]

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of protein transport [inference]

regulation of protein secretion [inference]

positive regulation of protein secretion

positive regulation of protein transport [inference]

positive regulation of protein secretion

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of protein secretion

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of protein secretion

regulation of secretion by cell [inference]

regulation of protein secretion [inference]

positive regulation of protein secretion

positive regulation of secretion by cell [inference]

positive regulation of protein secretion

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
condensed nuclear chromosome	IDA	9548712
extracellular region	TAS
cytosol	TAS
striated muscle thin filament	IDA	11717165
Z disc	IDA	11717165 19850579 9501083 9817758

GO Hierarchy

cellular component

protein-containing complex [inference]

titin-telethonin complex

cellular anatomical entity [inference]

myofilament [inference]

striated muscle thin filament

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]

chromosome [inference]

nuclear chromosome [inference]

condensed nuclear chromosome

condensed chromosome [inference]

condensed nuclear chromosome

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

chromosome [inference]

nuclear chromosome [inference]

condensed nuclear chromosome

condensed chromosome [inference]

condensed nuclear chromosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **41 - 44** of 44 in total

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GO Term	Evidence Code	PMID
histone H2BS36 kinase activity	IEA
histone H3S57 kinase activity	IEA
histone H3T45 kinase activity	IEA
histone H2AT120 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

protein tyrosine kinase activity

histone kinase activity [inference]

histone H2A kinase activity [inference]

histone H3 kinase activity [inference]

histone H4 kinase activity [inference]

histone H4S1 kinase activity

histone H2B kinase activity [inference]

histone H2AX kinase activity [inference]

histone H2AXS139 kinase activity

protein serine kinase activity

phosphotransferase activity, alcohol group as acceptor [inference]

protein kinase activity [inference]

protein serine/threonine kinase activity

protein tyrosine kinase activity

histone kinase activity [inference]

histone H2A kinase activity [inference]

histone H3 kinase activity [inference]

histone H4 kinase activity [inference]

histone H4S1 kinase activity

histone H2B kinase activity [inference]

histone H2AX kinase activity [inference]

histone H2AXS139 kinase activity

protein serine kinase activity

catalytic activity, acting on a protein [inference]

protein kinase activity [inference]

protein serine/threonine kinase activity

protein tyrosine kinase activity

histone kinase activity [inference]

histone H2A kinase activity [inference]

histone H3 kinase activity [inference]

histone H4 kinase activity [inference]

histone H4S1 kinase activity

histone H2B kinase activity [inference]

histone H2AX kinase activity [inference]

histone H2AXS139 kinase activity

protein serine kinase activity

histone modifying activity [inference]

histone kinase activity [inference]

histone H2A kinase activity [inference]

histone H3 kinase activity [inference]

histone H4 kinase activity [inference]

histone H4S1 kinase activity

histone H2B kinase activity [inference]

histone H2AX kinase activity [inference]

histone H2AXS139 kinase activity

structural molecule activity [inference]

binding [inference]

protein binding

calmodulin binding

cytoskeletal protein binding [inference]

actin binding [inference]

actin filament binding

telethonin binding

actinin binding

alpha-actinin binding [inference]

muscle alpha-actinin binding

enzyme binding

protease binding

kinase binding [inference]

protein kinase binding

identical protein binding

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

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

cation binding [inference]

metal ion binding [inference]

calcium ion binding

protein-containing complex binding [inference]

actin filament 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]

kinase regulator activity [inference]

protein kinase regulator activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

twitchin

Functional Category

G: Carbohydrate transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
ATP binding
protein phosphorylation

Displaying **all 10** entries
InterPro
Fibronectin type III superfamily
Fibronectin type III
Immunoglobulin I-set
Immunoglobulin subtype 2
Immunoglobulin subtype
Immunoglobulin-like domain superfamily
Immunoglobulin-like domain
Immunoglobulin-like fold
Protein kinase domain
Protein kinase-like domain superfamily

Disease

Disease Ontology

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:0081341	congenital myopathy 5	Alliance of Genome Resources
DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J	Alliance of Genome Resources
DOID:0110315	hypertrophic cardiomyopathy 9	Alliance of Genome Resources
DOID:0110430	dilated cardiomyopathy 1G	Alliance of Genome Resources
DOID:0111078	tibial muscular dystrophy	Alliance of Genome Resources
DOID:0111188	myofibrillar myopathy 9	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 15 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Danio rerio	7273	ZFIN:ZDB-GENE-030113-2
Mus musculus	22138	ZFIN:ZDB-GENE-030616-413	MOUSE33513
Drosophila melanogaster	84033	FB:FBgn0005666
Pan troglodytes	459784		PANTR29255
Callithrix jacchus	100396664		CALJA37523
Pongo abelii	100435464		PONAB24111
Cricetulus griseus	100767264		CRIGR08195
Felis catus	101080315		FELCA20412
Gorilla gorilla gorilla	101126591		GORGO27103
Chinchilla lanigera	102024966		CHILA00514

GlyTouCan

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UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements