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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 **1 - 5** of 44 in total

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GO Term	Evidence Code	PMID
protease binding	IPI	9642272
protein serine/threonine kinase activity	IDA	9804419
3-phosphoinositide-dependent protein kinase activity	IEA
DNA-dependent protein kinase activity	IEA
AMP-activated protein 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

down syndrome cell adhesion molecule-like protein

Functional Category

M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 5** entries
InterPro
Immunoglobulin I-set
Immunoglobulin subtype
Immunoglobulin-like domain superfamily
Immunoglobulin-like domain
Immunoglobulin-like fold

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

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OrthoDB (Group)

International Collaboration

Acknowledgements