titin | Myosin Light Chain Kinase (MLCK) family | IUPHAR/BPS Guide to PHARMACOLOGY

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Target not currently curated in GtoImmuPdb

Target id: 2265

Nomenclature: titin

Family: Myosin Light Chain Kinase (MLCK) family

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 26926 2q31 TTN titin
Mouse - 33467 2 D Ttn titin
Rat - - 3q23 Ttn titin
Previous and Unofficial Names
MYLK5 | shru | TMD | connectin | cardiomyopathy, dilated 1G (autosomal dominant) | CMD1G | mdm
Database Links
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
RefSeq Nucleotide
RefSeq Protein
Selected 3D Structures
Image of receptor 3D structure from RCSB PDB
Description:  Crystal structure of the titin C-terminus in complex with obscurin-like 1.
Resolution:  1.4Å
Species:  Human
References:  2
Image of receptor 3D structure from RCSB PDB
Description:  Crystal structure of the FnIII-tandem A77-A78 from the A-band of titin.
Resolution:  1.65Å
Species:  Human
References:  1
Enzyme Reaction
EC Number:
Clinically-Relevant Mutations and Pathophysiology
Disease:  Autosomal recessive centronuclear myopathy
Synonyms: Centronuclear myopathy [Disease Ontology: DOID:14717]
Disease Ontology: DOID:14717
Orphanet: ORPHA169186
Disease:  Cardiomyopathy, dilated, 1G; CMD1G
Synonyms: Dilated cardiomyopathy [Disease Ontology: DOID:12930]
Familial isolated dilated cardiomyopathy [Orphanet: ORPHA154]
Disease Ontology: DOID:12930
OMIM: 604145
Orphanet: ORPHA154
Disease:  Cardiomyopathy, familial hypertrophic, 9; CMH9
Synonyms: Familial hypertrophic cardiomyopathy [Disease Ontology: DOID:11986]
Familial isolated hypertrophic cardiomyopathy [Orphanet: ORPHA155]
Disease Ontology: DOID:11986
OMIM: 613765
Orphanet: ORPHA155
Disease:  Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Orphanet: ORPHA293899
Disease:  Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Orphanet: ORPHA293888
Disease:  Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Orphanet: ORPHA293910
Disease:  Hereditary myopathy with early respiratory failure
Synonyms: Hereditary proximal myopathy with early respiratory failure [Orphanet: ORPHA178464]
OMIM: 603689
Orphanet: ORPHA178464
Disease:  Infantile nephronophthisis
Orphanet: ORPHA93591
Disease:  Muscular dystrophy, limb-girdle, type 2
Disease Ontology: DOID:11724
OMIM: 608807
Disease:  Myopathy, early-onset, with fatal cardiomyopathy
Synonyms: Early-onset myopathy with fatal cardiomyopathy [Orphanet: ORPHA289377]
OMIM: 611705
Orphanet: ORPHA289377
Disease:  Tibial muscular dystrophy, tardive
OMIM: 600334
Orphanet: ORPHA609


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1. Bucher RM, Svergun DI, Muhle-Goll C, Mayans O. (2010) The structure of the FnIII Tandem A77-A78 points to a periodically conserved architecture in the myosin-binding region of titin. J. Mol. Biol., 401 (5): 843-53. [PMID:20542041]

2. Sauer F, Vahokoski J, Song YH, Wilmanns M. (2010) Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin. EMBO Rep., 11 (7): 534-40. [PMID:20489725]

How to cite this page

Myosin Light Chain Kinase (MLCK) family: titin. Last modified on 29/06/2015. Accessed on 31/05/2020. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2265.