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Target not currently curated in GtoImmuPdb

Target id: 2265

Nomenclature: titin

Family: Myosin Light Chain Kinase (MLCK) family

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 34350 2q31.2 TTN titin
Mouse - 35213 2 45.13 cM Ttn titin
Rat - - 3q23 Ttn titin
Previous and Unofficial Names Click here for help
cardiomyopathy, dilated 1G (autosomal dominant) | CMD1G | connectin | mdm | MYLK5 | shru | TMD
Database Links Click here for help
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
RefSeq Nucleotide
RefSeq Protein
Selected 3D Structures Click here for help
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 Click here for help
EC Number:
Clinically-Relevant Mutations and Pathophysiology Click here for help
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 22/02/2024. IUPHAR/BPS Guide to PHARMACOLOGY,