DYSF
entrez
8291
canonical
uniprot
O75923
canonical
ensembl
ENSG00000135636
resolver
ensp
ENSP00000258104
resolver
ensp
ENSP00000377678
resolver
ensp
ENSP00000386285
resolver
ensp
ENSP00000386512
resolver
ensp
ENSP00000386547
resolver
ensp
ENSP00000386617
resolver
ensp
ENSP00000386683
resolver
ensp
ENSP00000386881
resolver
ensp
ENSP00000387137
resolver
ensp
ENSP00000398305
resolver
ensp
ENSP00000407046
resolver
genesymbol
DYSF
resolver
genesymbol_syn
FER1L1
resolver
hgnc
HGNC:3097
resolver
uniprot
A0FK00
resolver
uniprot
B1PZ70
resolver
uniprot
B1PZ71
resolver
uniprot
B1PZ72
resolver
uniprot
B1PZ73
resolver
uniprot
B1PZ74
resolver
uniprot
B1PZ75
resolver
uniprot
B1PZ76
resolver
uniprot
B1PZ77
resolver
uniprot
B1PZ78
resolver
uniprot
B1PZ79
resolver
uniprot
B1PZ80
resolver
uniprot
B1PZ81
resolver
uniprot
B3KQB9
resolver
uniprot
O75696
resolver
uniprot
Q09EX5
resolver
uniprot
Q0H395
resolver
uniprot
Q53QY3
resolver
uniprot
Q53TD2
resolver
uniprot
Q8TEL8
resolver
uniprot
Q9UEN7
resolver
uniprot_entry
DYSF_HUMAN
resolver
uniprot_sec
A0FK00
resolver
uniprot_sec
B1PZ70
resolver
uniprot_sec
B1PZ71
resolver
uniprot_sec
B1PZ72
resolver
uniprot_sec
B1PZ73
resolver
uniprot_sec
B1PZ74
resolver
uniprot_sec
B1PZ75
resolver
uniprot_sec
B1PZ76
resolver
uniprot_sec
B1PZ77
resolver
uniprot_sec
B1PZ78
resolver
uniprot_sec
B1PZ79
resolver
uniprot_sec
B1PZ80
resolver
uniprot_sec
B1PZ81
resolver
uniprot_sec
B3KQB9
resolver
uniprot_sec
O75696
resolver
uniprot_sec
Q09EX5
resolver
uniprot_sec
Q0H395
resolver
uniprot_sec
Q53QY3
resolver
uniprot_sec
Q53TD2
resolver
uniprot_sec
Q8TEL8
resolver
uniprot_sec
Q9UEN7
resolver
amino_acid_sequence
MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2) [MIM:253601]: An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. {ECO:0000269|PubMed:10196377, ECO:0000269|PubMed:11134403, ECO:0000269|PubMed:14678801, ECO:0000269|PubMed:15469449, ECO:0000269|PubMed:16010686, ECO:0000269|PubMed:16100712, ECO:0000269|PubMed:16705711, ECO:0000269|PubMed:16996541, ECO:0000269|PubMed:17185750, ECO:0000269|PubMed:17287450, ECO:0000269|PubMed:18306167, ECO:0000269|PubMed:18853459, ECO:0000269|PubMed:19084402, ECO:0000269|PubMed:9731526}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]: A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. {ECO:0000269|PubMed:10196377, ECO:0000269|PubMed:11134403, ECO:0000269|PubMed:11468312, ECO:0000269|PubMed:11959863, ECO:0000269|PubMed:12796534, ECO:0000269|PubMed:15116377, ECO:0000269|PubMed:15469449, ECO:0000269|PubMed:15477515, ECO:0000269|PubMed:15515206, ECO:0000269|PubMed:16010686, ECO:0000269|PubMed:16100712, ECO:0000269|PubMed:17287450, ECO:0000269|PubMed:18306167, ECO:0000269|PubMed:18853459, ECO:0000269|PubMed:9731526, ECO:0000269|Ref.29}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Distal myopathy with anterior tibial onset (DMAT) [MIM:606768]: Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive. {ECO:0000269|PubMed:11198284}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
237295
uniprot
proteins
mutagenesis
MUTAGEN 16; /note="D->A: Fails to bind calcium."; /evidence="ECO:0000269|PubMed:24461013"; MUTAGEN 21; /note="D->A: Fails to bind calcium."; /evidence="ECO:0000269|PubMed:24461013"; MUTAGEN 71; /note="D->A: Fails to bind calcium."; /evidence="ECO:0000269|PubMed:24461013"; MUTAGEN 79; /note="R->D: Moderately increased calcium affinity."; /evidence="ECO:0000269|PubMed:24461013"; MUTAGEN 80; /note="F->A: Reduced calcium affinity."; /evidence="ECO:0000269|PubMed:24461013
uniprot
proteins
protein_family
Ferlin family
uniprot
proteins
pubmed
10196375
uniprot
proteins
pubmed
10196377
uniprot
proteins
pubmed
10496277
uniprot
proteins
pubmed
11134403
uniprot
proteins
pubmed
11198284
uniprot
proteins
pubmed
11468312
uniprot
proteins
pubmed
11532985
uniprot
proteins
pubmed
11959863
uniprot
proteins
pubmed
12796534
uniprot
proteins
pubmed
14678801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15116377
uniprot
proteins
pubmed
15318348
uniprot
proteins
pubmed
15469449
uniprot
proteins
pubmed
15477515
uniprot
proteins
pubmed
15515206
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15835269
uniprot
proteins
pubmed
16010686
uniprot
proteins
pubmed
16100712
uniprot
proteins
pubmed
16705711
uniprot
proteins
pubmed
16896923
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16996541
uniprot
proteins
pubmed
17185750
uniprot
proteins
pubmed
17287450
uniprot
proteins
pubmed
17363620
uniprot
proteins
pubmed
17554076
uniprot
proteins
pubmed
18306167
uniprot
proteins
pubmed
18853459
uniprot
proteins
pubmed
19084402
uniprot
proteins
pubmed
19221801
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24239457
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24438169
uniprot
proteins
pubmed
24461013
uniprot
proteins
pubmed
24687993
uniprot
proteins
pubmed
26707827
uniprot
proteins
pubmed
9731526
uniprot
proteins
pubmed
9731527
uniprot
proteins
sequence_length
2080
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000269|PubMed:10196377}; Single-pass type IV membrane protein {ECO:0000305}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q9ESD7}; Single-pass type IV membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:10196375, ECO:0000269|PubMed:26707827}; Single-pass type IV membrane protein {ECO:0000305}. Late endosome membrane {ECO:0000269|PubMed:26707827}; Single-pass type IV membrane protein {ECO:0000305}. Note=Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca(2+)-dependent manner toward the plasma membrane. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a caveolin-independent mechanism. Retained by caveolin at the plasmma membrane (By similarity). Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites (By similarity). {ECO:0000250|UniProtKB:Q9ESD7}.
uniprot
proteins
transmembrane_region
TRANSMEM 2047..2067; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins