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HomoloGene:4942. Gene conserved in Euteleostomi Download , Links
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.

   MYOT,  H.sapiens
myotilin
    NP_006781.1
498 aa
   MYOT,  P.troglodytes
myotilin
    XP_517948.2
383 aa
   MYOT,  M.mulatta
myotilin
    XP_001106921.2
498 aa
   MYOT,  C.lupus
myotilin
    XP_003639423.1
498 aa
   MYOT,  B.taurus
myotilin
    NP_001068803.1
499 aa
   Myot,  M.musculus
myotilin
    NP_001028793.1
496 aa
   LOC100912306,  R.norvegicus
myotilin-like
    XP_006244741.1
497 aa
   Myot,  R.norvegicus
myotilin
    NP_001099618.1
496 aa
   LOC100909761,  R.norvegicus
myotilin-like
    XP_006255053.1
497 aa
   MYOT,  G.gallus
myotilin
    XP_414618.4
773 aa
   myot,  X.tropicalis
myotilin
    NP_001017159.2
497 aa
   LOC100329862,  D.rerio
myotilin-like
    XP_002664374.3
653 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
Muscular dystrophy, limb-girdle, type 1A.
Myopathy, spheroid body.
Myotilinopathy.



Publications
Articles associated with genes and sequences of this homology group.

Solution structure of the first immunoglobulin domain of human myotilin.
Heikkinen O, et al. J Biomol NMR 44, 107-12 (2009).
Myotilin overexpression enhances myopathology in the LGMD1A mouse model.
Garvey SM, et al. Muscle Nerve 37, 663-7 (2008).
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
Berciano J, et al. J Neurol Neurosurg Psychiatry 79, 205-8 (2008).
Myotilinopathy in a family with late onset myopathy.
PĂ©nisson-Besnier I, et al. Neuromuscul Disord 16, 427-31 (2006).



Conserved Domains
Conserved Domains from CDD found in protein sequences by rpsblast searching.
I-set (pfam07679)
  Immunoglobulin I-set domain.
Ig (cl11960)
  Immunoglobulin domain.
I-set (pfam07679)
  Immunoglobulin I-set domain.
Ig (cl11960)
  Immunoglobulin domain.



Related Homology Resources
Links to curated and computed homology information found in other databases.
Orthology group for M.musculus Myot includes H.sapiens MYOT and R.norvegicus Myot.



UniGene
Links to UniGene entries found by comparing the homologous proteins against the transcript database.

Chordata
Mammalia - mammals (12 transcripts, 10 species)
Ascidiacea - tunicates (2 transcripts, 2 species)
Aves - birds (2 transcripts, 2 species)
Amniota - vertebrates (1 transcript, 1 species)
Actinopterygii - bony fishes (1 transcript, 1 species)

 

 

 

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