Search by BoMiProt ID - Bomi5334


Primary Information

BoMiProt ID Bomi5334
Protein Name Dysferlin/Dystrophy-associated fer-1-like protein/Fer-1-like protein 1
Organism Bos taurus
Uniprot IdA6QQP7
Milk FractionWhey
Ref Sequence Id NP_001095960.1
Aminoacid Length 2107
Molecular Weight 239314
Fasta Sequence https://www.uniprot.org/uniprot/A6QQP7.fasta
Gene Name DYSF/FER1L1
Gene Id 508157
Protein Existence Status reviewed

Secondary Information

Protein Function Dysferlin is associated with cell membrane related function, which affect its repair, vesicle trafficking, as well as Ca(2+) homeostasis. dysferlin is also known to play a role in membrane repair and in T-tubule biogenesis and maintenance.
Biochemical Properties Dysferlin is the first identified member of a putative muscle-specific repair complex that permits rapid resealing of membranes disrupted by mechanical stress. Membrane resealing is a function conserved by most cells and is mediated by a mechanism closely resembling regulated, Ca2+-dependent exocytosis.
PTMs Phosphorylation at Thr
Site(s) of PTM(s)

N-glycosylation, O-glycosylation,
Phosphorylation
>sp|A6QQP7|DYSF_BOVIN Dysferlin OS=Bos taurus OX=9913 GN=DYSF PE=2 SV=1 MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNNVNPVWNEGFEWDLKGIPLD QGSELLVVVKDHETMGRNRFLGEANIPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQ VSYTPLPGAVPTFPPLTPLEPSPTLPDMDTVADTGGEEDTEDQGLT*166GDEAEPFLDQSGAL GPGAPSTPKKQPSHPPPYHPGGGRKRSAPAPSKPLSDKPQDFQIRVQVIKGRQLPGVNIK PVVKVTAAGQTKRTRIHKGNSPVFNETLFFNVFDSPAELFNEPIFITVVDSRSLRTDALI GEFRLDVGSIYREPRHAYLRKWLLLSDPDDFSAGARGYLKASLCVLGPGDEAPLERKDPS EDKEDIESNLLRPIGVALRGAHFCLKVFRAEDLPQMDDAVMDNVRQIFGFDSNKKNLVDP FVEVSFAGKMLCSKILEKTANPQWNQSITLPAMFPSMCEKMRIRVVDWDRLTHNDIVATT YLSMSKISASGGEIEEEPAGVVKPPPATELDDHLGFLPTFGPCYINLYGSPREFTGFPDP YAELNTGKGEGVAYRGRLLLSLETKLVERSEQKVEALSADDILRVEKYLRRRKYSLFAAF YSATMLQDVDDAVQFEVSIGNYGNKFDTTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPV VVLSSYWEDIRHRVEAQNQLLRIADQLEAGLEQVHLALKAQCSDEDVDSLVAQLMDELIA GCSQPLGDVQEMPSATHLDQYLYQLRTRHLSQITEAAQALKLGHSELPAALEQAEDWLLR LRALADEPQNSLPDIVIWMLQGDKRVAYQRVPAHEVLFSRRGTSYCGKNCGKLQTIFLKY PMEGVPRARMPVQIRVRLWFGLSVDEKEFNQFAEGKLSVFAETYENQTKLALVGNWGTTG LTYPKFSDITGRIKLPKDSFRPSAGWAWAGDWFVCPEKTLLHDTDAGHLSFVEEVFENQT RLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITI PPDRKPRHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWK FHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVVDDRSEDSVSVSTLSFGVN RPTISCIFDYGNRYHLRCYMYQARDLPAMDKDSFSDPYAVVSFLHQSQKTVVAKNTLNPT WDQTLIFYEIEIFGEPSSIAEQPPSIVVELYDHDTYGVDEFMGRCICQPSLERTPRLAWF PLTRGSQPAGELLASFELIQREKPAIHHIPGFEVQDTTGILEESEDTDLPYPPPQREANI YMVPQNIKPVLQRTAIEILAWGLRNMKSYQLASVSSPSLVVECGGQSVQSCVIKNLRKNP NFDICTLFMEVMLPREELYCPPIVVKVIDNRQFGRRPVVGQCTIRSLEGFLCDPYSEESP SPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQFADGLSGLAPTNMASSPSSLHKILLEEE FIDWWSKFFASIGESEKCGSYLEKDFDTLKVYDTSLENVKAFEGLSDFCNTFKLYRGKTQ EETEDPSVIGEFKGLFKIYPLPEDPAIPLPPRQFHQLASQGPQECLVRVYIIRAFGLQPK DPNGKCDPYIKISIGKKSVSDQDSYIPCTLEPVFGKMFELTCTLPLEKDLKVTLYDYDLL SKDEKIGETVIDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKA PVYRTDRVVFQDKEYTVEEIEAGRVPNPHLGPVEERLALHVLQQQGLIPEHVESRPLYSP LQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTKDVILDDLSITGE KMSDIYVKGWMVGFEEHKQKTDVHYRSLGGEGNFNWRFVFPFDYLPAEQVCTVSKKDAFW RLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNHMPKPAKTAEKCSADQLEDTFHP ERFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVTESEHEERPAGHGRDEPNMNP KLEDPRRPDTSFLWFTSPYKTMKFILWRRFRCAIIFFLILFIFLLFLGIFVYSFPNYAAM KLVKPFS
Predicted Disorder Regions NA
DisProt Annotation
TM Helix Prediction 1TMH; (2072-2094)
Additional Comments Dysferlin deficiency manifests as muscular dystrophy of proximal and distal muscles. Cardiomyopathies have been also reported, and some dysferlinopathy mouse models develop cardiac dysfunction under stress. 
Bibliography 1.Cárdenas AM, González-Jamett AM, Cea LA, Bevilacqua JA, Caviedes P. Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies. Exp Neurol. 2016 Sep;283(Pt A):246-54. doi: 10.1016/j.expneurol.2016.06.026. Epub 2016 Jun 25. PMID: 27349407. 2.Hofhuis J, Bersch K, Wagner S, Molina C, Fakuade FE, Iyer LM, Streckfuss-Bömeke K, Toischer K, Zelarayán LC, Voigt N, Nikolaev VO, Maier LS, Klinge L, Thoms S. Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system. Europace. 2020 Jul 1;22(7):1119-1131. doi: 10.1093/europace/euaa093. PMID: 32572487. 3.