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HomoloGene:20748. Gene conserved in Bilateria 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.

DYSF,  H.sapiens
dysferlin
NP_001124454.1
2112 aa
DYSF,  P.troglodytes
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
XP_003309136.1
2078 aa
DYSF,  M.mulatta
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
XP_002799336.1
2053 aa
DYSF,  C.lupus
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
XP_003432278.1
2115 aa
DYSF,  B.taurus
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
NP_001095960.1
2107 aa
Dysf,  M.musculus
dysferlin
NP_067444.2
2100 aa
Dysf,  R.norvegicus
dysferlin
NP_001101339.1
2029 aa
DYSF,  G.gallus
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
XP_423126.4
1987 aa
dysf,  D.rerio
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
NP_001244122.1
2088 aa
fer-1,  C.elegans
fer-1
NP_492337.1
2034 aa
ferl-1,  C.elegans
ferl-1
NP_491602.2
898 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 2B.
Miyoshi myopathy.
Myopathy, distal, with anterior tibial onset.



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

Dysferlin stabilizes stress-induced Ca2+ signaling in the transverse tubule membrane.
Kerr JP, et al. Proc Natl Acad Sci U S A 110, 20831-6 (2013).
Dual effects of exercise in dysferlinopathy.
Biondi O, et al. Am J Pathol 182, 2298-309 (2013).
Dysferlin regulates cell adhesion in human monocytes.
de Morrée A, et al. J Biol Chem 288, 14147-57 (2013).
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.
Zhao Z, et al. Clin Neurol Neurosurg 115, 1234-7 (2013).
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
Takahashi T, et al. J Neurol Neurosurg Psychiatry 84, 433-40 (2013).



Conserved Domains
Conserved Domains from CDD found in protein sequences by rpsblast searching.
FerB (pfam08150)
  FerB (NUC096) domain.
DysFC (smart00694)
  Dysferlin domain, C-terminal region.
FerI (pfam08151)
  FerI (NUC094) domain.
FerA (pfam08165)
  FerA (NUC095) domain.
DysFN (smart00693)
  Dysferlin domain, N-terminal region.
C2 (cl14603)
  C2 domain.
C2 (cl14603)
  C2 domain.



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



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

Chordata
Mammalia - mammals (17 transcripts, 10 species)
Actinopterygii - bony fishes (11 transcripts, 6 species)
Aves - birds (4 transcripts, 1 species)
Ascidiacea - tunicates (1 transcript, 1 species)
Amphibia - amphibians (1 transcript, 1 species)

Mollusca
Gastropoda - gastropods (4 transcripts, 2 species)

Cnidaria
Hydrozoa - hydrozoans (2 transcripts, 1 species)
Anthozoa - anthozoans (2 transcripts, 1 species)

Nematoda
Chromadorea - nematodes (1 transcript, 1 species)

Platyhelminthes
Trematoda - flatworms (1 transcript, 1 species)

Annelida
Hirudinida - segmented worms (1 transcript, 1 species)

Echinodermata
Echinoidea - sea urchins (1 transcript, 1 species)

 

 

 

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