Primary Information |
|---|
| BoMiProt ID | Bomi5334 |
|---|
| Protein Name | Dysferlin/Dystrophy-associated fer-1-like protein/Fer-1-like protein 1 |
|---|
| Organism | Bos taurus |
|---|
| Uniprot ID | A6QQP7 |
|---|
| Milk Fraction | Whey |
|---|
| Ref Sequence ID | NP_001095960.1 |
|---|
| Aminoacid Length | 2107 |
|---|
| Molecular Weight | 239314 |
|---|
| FASTA Sequence |
Download |
|---|
| 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. |
|---|
