Gene

ttn.1

ID
ZDB-GENE-030616-413
Name
titin, tandem duplicate 1
Symbol
ttn.1 Nomenclature History
Previous Names
  • TTN1 (1)
  • ttnb
  • ttnl
  • hm:zeh1256r
  • im:6911926
  • si:dZ167C3.1
  • si:dz249n21.1
  • wu:fc09a12
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to have actin filament binding activity and muscle alpha-actinin binding activity. Involved in myofibril assembly and skeletal muscle tissue development. Predicted to localize to M band; Z disc; and striated muscle thin filament. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Is expressed in several structures, including cardiovascular system; floor plate; mesoderm; musculature system; and pectoral fin. Orthologous to human TTN (titin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
74 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ttn.1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive limb-girdle muscular dystrophy type 2J Alliance Muscular dystrophy, limb-girdle, autosomal recessive 10 608807
dilated cardiomyopathy 1G Alliance Cardiomyopathy, dilated, 1G 604145
hypertrophic cardiomyopathy 9 Alliance Cardiomyopathy, familial hypertrophic, 9 613765
myofibrillar myopathy 9 Alliance Myopathy, myofibrillar, 9, with early respiratory failure 603689
tibial muscular dystrophy Alliance Tibial muscular dystrophy, tardive 600334
Salih myopathy 611705
Associated With ttn.1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR008266 Tyrosine-protein kinase, active site
Domain IPR000719 Protein kinase domain
Domain IPR003598 Immunoglobulin subtype 2
Domain IPR003599 Immunoglobulin subtype
Domain IPR003961 Fibronectin type III
Domain IPR007110 Immunoglobulin-like domain
Domain IPR013098 Immunoglobulin I-set
Domain IPR040849 MyBP-C, tri-helix bundle domain
Family IPR039696 Microfibril-associated glycoprotein 3-like
Homologous_superfamily IPR011009 Protein kinase-like domain superfamily
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR036116 Fibronectin type III superfamily
Homologous_superfamily IPR036179 Immunoglobulin-like domain superfamily
Domain Details Per Protein
Protein Length Fibronectin type III Fibronectin type III superfamily Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype Immunoglobulin subtype 2 Microfibril-associated glycoprotein 3-like MyBP-C, tri-helix bundle domain Protein kinase domain Protein kinase-like domain superfamily Tyrosine-protein kinase, active site
UniProtKB:G1K2X0 29152
UniProtKB:A0A2R8QPI1 294
UniProtKB:Q7ZZ46 22017
UniProtKB:A0A2R8PZT6 27459
UniProtKB:A5X6X6 28835
UniProtKB:Q7ZZ47 670
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations