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HomoloGene:130650. Gene conserved in Euteleostomi

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Genes Genes identified as putative homologs of one another during the construction of HomoloGene.			Proteins Proteins used in sequence comparisons and their conserved domain architectures.
	TTN, H.sapiens titin			NP_001254479.1 35991 aa
	LOC703527, M.mulatta titin-like			XP_002808058.1 33365 aa
	TTN, C.lupus titin			XP_535982.5 35162 aa
	TTN, B.taurus titin			XP_002685306.2 34369 aa
	Ttn, M.musculus titin			NP_035782.3 33467 aa
	Ttn, R.norvegicus titin			XP_006234489.1 34021 aa
	TTN, G.gallus titin			XP_004942758.1 33713 aa
	ttna, D.rerio titin a			XP_001923800.2 35208 aa

Protein Alignments

Protein multiple alignment, pairwise similarity scores and evolutionary distances.

Show Multiple Alignment

Show Pairwise Alignment Scores

Pairwise alignments generated using BLAST

Regenerate Alignments

Phenotypes Phenotypic information for the genes in this entry imported from model organism databases.
*H.sapiens*
MIM:188840 Cardiomyopathy, familial hypertrophic, 9.
MIM:600334 Tibial muscular dystrophy, tardive.
MIM:603689 Myopathy, proximal, with early respiratory muscle involvement.
MIM:604145 Cardiomyopathy, dilated, 1G.
MIM:608807 Muscular dystrophy, limb-girdle, type 2J.

Publications Articles associated with genes and sequences of this homology group.
Hereditary Myopathy with Early Respiratory Failure Pfeffer G, et al. (1993).
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Ceyhan-Birsoy O, et al. Neurology 81, 1205-14 (2013).
Shortening of the elastic tandem immunoglobulin segment of titin leads to diastolic dysfunction. Chung CS, et al. Circulation 128, 19-28 (2013).
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. Izumi R, et al. J Hum Genet 58, 259-66 (2013).
Titin is a major human disease gene. LeWinter MM & Granzier HL. Circulation 127, 938-44 (2013).
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Norton N, et al. Circ Cardiovasc Genet 6, 144-53 (2013).
Single molecule force spectroscopy on titin implicates immunoglobulin domain stability as a cardiac disease mechanism. Anderson BR, et al. J Biol Chem 288, 5303-15 (2013).
Calcium sensitivity and myofilament lattice structure in titin N2B KO mice. Lee EJ, et al. Arch Biochem Biophys 535, 76-83 (2013).
Altered mechanical properties of titin immunoglobulin domain 27 in the presence of calcium. DuVall MM, et al. Eur Biophys J 42, 301-7 (2013).
Different pressure-temperature behavior of the structured and unstructured regions of titin. Somkuti J, et al. Biochim Biophys Acta 1834, 112-8 (2013).
See all (286)

Conserved Domains Conserved Domains from CDD found in protein sequences by rpsblast searching.
Titin_Z (pfam09042) Titin Z.
I-set (pfam07679) Immunoglobulin I-set domain.
S_TKc (smart00220) Serine/Threonine protein kinases, catalytic domain.
IG (smart00409) Immunoglobulin.
IG_like (smart00410) Immunoglobulin like.
SMC_N (pfam02463) RecF/RecN/SMC N terminal domain.
Ig (cl11960) Immunoglobulin domain.
PPAK (pfam02818) PPAK motif.
I-set (pfam07679) Immunoglobulin I-set domain.
FN3 (cl00065) Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
Ig (cl11960) Immunoglobulin domain.

Related Homology Resources Links to curated and computed homology information found in other databases.
MGI:98864 Orthology group for M.musculus Ttn includes H.sapiens TTN and R.norvegicus Ttn.

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