Homo sapiens (human): 8291
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Entry
8291 CDS
T01001
Symbol
DYSF, FER1L1, LGMD2B, LGMDR2, MMD1
Name
(RefSeq) dysferlin isoform 8
KO
K18261
dysferlin
Organism
hsa
Homo sapiens (human)
Disease
H00566
Distal myopathy with anterior tibial onset
H00593
Limb-girdle muscular dystrophy
H00594
Distal myopathy
H01965
Miyoshi muscular dystrophy
H01974
Limb-girdle muscular dystrophy 2B
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
8291 (DYSF)
09183 Protein families: signaling and cellular processes
04147 Exosome [BR:
hsa04147
]
8291 (DYSF)
Membrane trafficking [BR:
hsa04131
]
Endosome - Lysosome transport
Others
Ferlins
8291 (DYSF)
Exosome [BR:
hsa04147
]
Exosomal proteins
Exosomal proteins of other body fluids (saliva and urine)
8291 (DYSF)
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
C2
dsrm_Ferlin
FerB
Ferlin_C
FerA
FerI
Pex24p
PTEN_C2
dsRBD2
Motif
Other DBs
NCBI-GeneID:
8291
NCBI-ProteinID:
NP_003485
OMIM:
603009
HGNC:
3097
Ensembl:
ENSP00000258104.3
UniProt:
O75923
Structure
PDB
PDBj
LinkDB
All DBs
Position
2:71453561..71686763
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AA seq
2080 aa
AA seq
DB search
MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLD
QGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQ
VSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGP
GAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPV
VKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGE
FRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSED
KEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFV
EVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYL
SMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGFPDPYT
ELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYS
ATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVV
LSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGC
SQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLR
ALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPM
EKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLT
YPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRL
PGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPP
ERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFH
LEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRP
TISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWD
QTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPL
TRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYM
VPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNF
DICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSP
QGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFD
TLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAI
PMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIP
CTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGL
PQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPN
PHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPP
FNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRS
LGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDD
FLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKI
LAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILW
RRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS
NT seq
6243 nt
NT seq
+upstream
nt +downstream
nt
atgctgagggtcttcatcctctatgccgagaacgtccacacacccgacaccgacatcagc
gatgcctactgctccgcggtgtttgcaggggtgaagaagagaaccaaagtcatcaagaac
agcgtgaaccctgtatggaatgagggatttgaatgggacctcaagggcatccccctggac
cagggctctgagcttcatgtggtggtcaaagaccatgagacgatggggaggaacaggttc
ctgggggaagccaaggtcccactccgagaggtcctcgccacccctagtctgtccgccagc
ttcaatgcccccctgctggacaccaagaagcagcccacaggggcctcgctggtcctgcag
gtgtcctacacaccgctgcctggagctgtgcccctgttcccgccccctactcctctggag
ccctccccgactctgcctgacctggatgtagtggcagacacaggaggagaggaagacaca
gaggaccagggactcactggagatgaggcggagccattcctggatcaaagcggaggcccg
ggggctcccaccaccccaaggaaactaccttcacgtcctccgccccactaccccgggatc
aaaagaaagcgaagtgcgcctacatctagaaagctgctgtcagacaaaccgcaggatttc
cagatcagggtccaggtgatcgaggggcgccagctgccgggggtgaacatcaagcctgtg
gtcaaggttaccgctgcagggcagaccaagcggacgcggatccacaagggaaacagccca
ctcttcaatgagactcttttcttcaacttgtttgactctcctggggagctgtttgatgag
cccatctttatcacggtggtagactctcgttctctcaggacagatgctctcctcggggag
ttccggatggacgtgggcaccatttacagagagccccggcacgcctatctcaggaagtgg
ctgctgctctcagaccctgatgacttctctgctggggccagaggctacctgaaaacaagc
ctttgtgtgctggggcctggggacgaagcgcctctggagagaaaagacccctctgaagac
aaggaggacattgaaagcaacctgctccggcccacaggcgtagccctgcgaggagcccac
ttctgcctgaaggtcttccgggccgaggacttgccgcagatggacgatgccgtgatggac
aacgtgaaacagatctttggcttcgagagtaacaagaagaacttggtggacccctttgtg
gaggtcagctttgcggggaaaatgctgtgcagcaagatcttggagaagacggccaaccct
cagtggaaccagaacatcacactgcctgccatgtttccctccatgtgcgaaaaaatgagg
attcgtatcatagactgggaccgcctgactcacaatgacatcgtggctaccacctacctg
agtatgtcgaaaatctctgcccctggaggagaaatagaagaggagcctgcaggtgctgtc
aagccttcgaaagcctcagacttggatgactacctgggcttcctccccacttttgggccc
tgctacatcaacctctatggcagtcccagagagttcacaggcttcccagacccctacaca
gagctcaacacaggcaagggggaaggtgtggcttatcgtggccggcttctgctctccctg
gagaccaagctggtggagcacagtgaacagaaggtggaggaccttcctgcggatgacatc
ctccgggtggagaagtaccttaggaggcgcaagtactccctgtttgcggccttctactca
gccaccatgctgcaggatgtggatgatgccatccagtttgaggtcagcatcgggaactac
gggaacaagttcgacatgacctgcctgccgctggcctccaccactcagtacagccgtgca
gtctttgacgggtgccactactactacctaccctggggtaacgtgaaacctgtggtggtg
ctgtcatcctactgggaggacatcagccatagaatcgagactcagaaccagctgcttggg
attgctgaccggctggaagctggcctggagcaggtccacctggccctgaaggcgcagtgc
tccacggaggacgtggactcgctggtggctcagctgacggatgagctcatcgcaggctgc
agccagcctctgggtgacatccatgagacaccctctgccacccacctggaccagtacctg
taccagctgcgcacccatcacctgagccaaatcactgaggctgccctggccctgaagctc
ggccacagtgagctccctgcagctctggagcaggcggaggactggctcctgcgtctgcgt
gccctggcagaggagccccagaacagcctgccggacatcgtcatctggatgctgcaggga
gacaagcgtgtggcataccagcgggtgcccgcccaccaagtcctcttctcccggcggggt
gccaactactgtggcaagaattgtgggaagctacagacaatctttctgaaatatccgatg
gagaaggtgcctggcgcccggatgccagtgcagatacgggtcaagctgtggtttgggctc
tcagtggatgagaaggagttcaaccagtttgctgaggggaagctgtctgtctttgctgaa
acctatgagaacgagactaagttggcccttgttgggaactggggcacaacgggcctcacc
taccccaagttttctgacgtcacgggcaagatcaagctacccaaggacagcttccgcccc
tcggccggctggacctgggctggagattggttcgtgtgtccggagaagactctgctccat
gacatggacgccggtcacctgagcttcgtggaagaggtgtttgagaaccagacccggctt
cccggaggccagtggatctacatgagtgacaactacaccgatgtgaacggggagaaggtg
cttcccaaggatgacattgagtgcccactgggctggaagtgggaagatgaggaatggtcc
acagacctcaaccgggctgtcgatgagcaaggctgggagtatagcatcaccatccccccg
gagcggaagccgaagcactgggtccctgctgagaagatgtactacacacaccgacggcgg
cgctgggtgcgcctgcgcaggagggatctcagccaaatggaagcactgaaaaggcacagg
caggcggaggcggagggcgagggctgggagtacgcctctctttttggctggaagttccac
ctcgagtaccgcaagacagatgccttccgccgccgccgctggcgccgtcgcatggagcca
ctggagaagacggggcctgcagctgtgtttgcccttgagggggccctgggcggcgtgatg
gatgacaagagtgaagattccatgtccgtctccaccttgagcttcggtgtgaacagaccc
acgatttcctgcatattcgactatgggaaccgctaccatctacgctgctacatgtaccag
gcccgggacctggctgcgatggacaaggactctttttctgatccctatgccatcgtctcc
ttcctgcaccagagccagaagacggtggtggtgaagaacacccttaaccccacctgggac
cagacgctcatcttctacgagatcgagatctttggcgagccggccacagttgctgagcaa
ccgcccagcattgtggtggagctgtacgaccatgacacttatggtgcagacgagtttatg
ggtcgctgcatctgtcaaccgagtctggaacggatgccacggctggcctggttcccactg
acgaggggcagccagccgtcgggggagctgctggcctcttttgagctcatccagagagag
aagccggccatccaccatattcctggttttgaggtgcaggagacatcaaggatcctggat
gagtctgaggacacagacctgccctacccaccaccccagagggaggccaacatctacatg
gttcctcagaacatcaagccagcgctccagcgtaccgccatcgagatcctggcatggggc
ctgcggaacatgaagagttaccagctggccaacatctcctcccccagcctcgtggtagag
tgtgggggccagacggtgcagtcctgtgtcatcaggaacctccggaagaaccccaacttt
gacatctgcaccctcttcatggaagtgatgctgcccagggaggagctctactgccccccc
atcaccgtcaaggtcatcgataaccgccagtttggccgccggcctgtggtgggccagtgt
accatccgctccctggagagcttcctgtgtgacccctactcggcggagagtccatcccca
cagggtggcccagacgatgtgagcctactcagtcctggggaagacgtgctcatcgacatt
gatgacaaggagcccctcatccccatccaggaggaagagttcatcgattggtggagcaaa
ttctttgcctccataggggagagggaaaagtgcggctcctacctggagaaggattttgac
accctgaaggtctatgacacacagctggagaatgtggaggcctttgagggcctgtctgac
ttttgtaacaccttcaagctgtaccggggcaagacgcaggaggagacagaagatccatct
gtgattggtgaatttaagggcctcttcaaaatttatcccctcccagaagacccagccatc
cccatgcccccaagacagttccaccagctggccgcccagggaccccaggagtgcttggtc
cgtatctacattgtccgagcatttggcctgcagcccaaggaccccaatggaaagtgtgat
ccttacatcaagatctccatagggaagaaatcagtgagtgaccaggataactacatcccc
tgcacgctggagcccgtatttggaaagatgttcgagctgacctgcactctgcctctggag
aaggacctaaagatcactctctatgactatgacctcctctccaaggacgaaaagatcggt
gagacggtcgtcgacctggagaacaggctgctgtccaagtttggggctcgctgtggactc
ccacagacctactgtgtctctggaccgaaccagtggcgggaccagctccgcccctcccag
ctcctccacctcttctgccagcagcatagagtcaaggcacctgtgtaccggacagaccgt
gtaatgtttcaggataaagaatattccattgaagagatagaggctggcaggatcccaaac
ccacacctgggcccagtggaggagcgtctggctctgcatgtgcttcagcagcagggcctg
gtcccggagcacgtggagtcacggcccctctacagccccctgcagccagacatcgagcag
gggaagctgcagatgtgggtcgacctatttccgaaggccctggggcggcctggacctccc
ttcaacatcaccccacggagagccagaaggtttttcctgcgttgtattatctggaatacc
agagatgtgatcctggatgacctgagcctcacgggggagaagatgagcgacatttatgtg
aaaggttggatgattggctttgaagaacacaagcaaaagacagacgtgcattatcgttcc
ctgggaggtgaaggcaacttcaactggaggttcattttccccttcgactacctgccagct
gagcaagtctgtaccattgccaagaaggatgccttctggaggctggacaagactgagagc
aaaatcccagcacgagtggtgttccagatctgggacaatgacaagttctcctttgatgat
tttctgggctccctgcagctcgatctcaaccgcatgcccaagccagccaagacagccaag
aagtgctccttggaccagctggatgatgctttccacccagaatggtttgtgtcccttttt
gagcagaaaacagtgaagggctggtggccctgtgtagcagaagagggtgagaagaaaata
ctggcgggcaagctggaaatgaccttggagattgtagcagagagtgagcatgaggagcgg
cctgctggccagggccgggatgagcccaacatgaaccctaagcttgaggacccaaggcgc
cccgacacctccttcctgtggtttacctccccatacaagaccatgaagttcatcctgtgg
cggcgtttccggtgggccatcatcctcttcatcatcctcttcatcctgctgctgttcctg
gccatcttcatctacgccttcccgaactatgctgccatgaagctggtgaagcccttcagc
tga
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