KEGG   Homo sapiens (human): 8291Help
Entry
8291              CDS       T01001                                 

Gene name
DYSF, FER1L1, LGMD2B, LGMDR2, MMD1
Definition
(RefSeq) dysferlin
  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 myopathy
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: C2 FerB Ferlin_C FerA FerI Pex24p PTEN_C2 dsRBD2
Motif
Other DBs
NCBI-GeneID: 8291
NCBI-ProteinID: NP_003485
OMIM: 603009
HGNC: 3097
Ensembl: ENSG00000135636
Vega: OTTHUMG00000129757
Pharos: O75923(Tbio)
UniProt: O75923
Structure
PDB: 

Position
2p13.2
AA seq 2080 aa AA seqDB 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  +upstreamnt  +downstreamnt
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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