KEGG   Homo sapiens (human): 6305
Entry
6305              CDS       T01001                                 
Symbol
SBF1, CMT4B3, DENND7A, MTMR5
Name
(RefSeq) SET binding factor 1
  KO
K18061  myotubularin-related protein 5/13
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    6305 (SBF1)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein tyrosine phosphatases (PTPs)
  Class I PTPs (Dual specificity phosphatases)
   Myotubularins
    6305 (SBF1)
SSDB
Motif
Pfam: SBF2 Myotub-related DENN uDENN GRAM PH dDENN PH_11 SPA PH_8 PH_2
Other DBs
NCBI-GeneID: 6305
NCBI-ProteinID: NP_001352748
OMIM: 603560
HGNC: 10542
Ensembl: ENSG00000100241
UniProt: O95248
LinkDB
Position
22:complement(50445000..50475035)
AA seq 1868 aa
MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPER
NPPTFFVAVLTDINSERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPT
APAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLA
GGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFL
SRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQEL
LDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSS
LKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKV
LEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNEN
PYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTV
PSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARR
CLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLS
PGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQED
ERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLL
RERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCT
ESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDG
LRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVA
ALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPD
IRATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWE
HRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLS
SSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRS
GRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADAS
GRNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFL
RPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEP
SPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLS
DPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPM
EFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDR
LSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPE
EERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVK
AAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGS
RQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRV
DTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDR
IQSCLSDA
NT seq 5607 nt   +upstreamnt  +downstreamnt
atggcgcggctcgcggactacttcgtgctggtggcgttcgggccgcacccgcgcgggagt
ggggaaggccagggccagattctgcagcgcttcccagagaaggactgggaggacaaccca
ttcccccagggcatcgagctgttttgccagcccagcgggtggcagctgtgtcccgagagg
aatccaccgaccttctttgttgctgtcctcaccgacatcaactccgagcgccactactgc
gcctgcttgaccttctgggagccagcggagccttcacagcaggaaacgacgcgcgtggag
gatgccacagagagggaggaagagggggatgagggaggccagacccacctgtctcccaca
gcacctgccccatctgcccagctgtttgcaccgaagacgctggtactggtgtcgcgactc
gaccacacggaggtgttcaggaacagccttggcctcatctatgccatccacgtggagggc
ctgaatgtgtgcctggagaacgtgattgggaacctgctgacgtgcactgtgcccctggct
gggggctcgcagaggacgatctctttgggggctggtgaccggcaggtcatccagactcca
ctggccgactcgctgcccgtcagccgctgcagcgtggccctgctcttccgccagctaggc
atcaccaacgtgctgtctttgttctgtgccgccctcacggagcacaaggttctcttcctg
tcccggagctaccagcggctcgccgatgcctgtaggggcctcctggcactgctgtttcct
ctcagatacagcttcacctatgtgcccatcctgccggctcagctgctggaggtcctcagc
acacccacgcccttcatcattggggtcaacgcggccttccaggcagagacccaggagctg
ctcgatgtgattgttgctgatctggatggagggacggtcaccattcctgagtgtgtgcac
attccacccttgccagagccactgcagagtcagacgcacagtgtgctgagcatggtcctg
gacccggagctggagttggctgacctcgccttccctccgcccacgacatccacctcctcc
ctgaagatgcaggacaaggagctgcgcgcggtcttcctgcggctgttcgctcagctgctg
cagggctatcgctggtgcctgcacgtcgtgcgcatccacccggagcctgtcatccgcttc
cataaggcagccttcctgggccagcgtgggctggtagaggacgatttcctgatgaaggtg
ctggagggcatggcctttgctggctttgtgtcagagcgtggggtcccataccgccctacg
gacctgttcgatgagctggtggcccacgaggtggcaaggatgcgggcggatgagaaccac
ccccagcgtgtcctgcgtcacgtccaggaactggcagagcagctctacaagaacgagaac
ccgtacccagccgtggcgatgcacaaggtacagaggcccggtgagagcagccacctgcga
cgggtgccccgacccttcccccggctggatgagggcaccgtgcagtggatcgtggaccag
gctgcagccaagatgcagggtgcacccccagctgtgaaggccgagaggaggaccaccgtg
ccctcagggccccccatgactgccatactggagcggtgcagtgggctgcatgtcaacagc
gcccggcggctggaggttgtgcgcaactgcatctcctacgtgtttgaggggaaaatgctt
gaggccaagaagctgctcccagccgtgttgagggccctgaaggggcgagctgcccgccgc
tgcctcgcccaggagctgcacctgcatgtgcagcagaaccgtgcggtcctggaccaccag
cagtttgactttgtcgtccgtatgatgaactgctgcctgcaggactgcacttctctggac
gagcatggcattgcggcggctctgctgcctctggtcacagccttctgccggaagctgagc
ccgggggtgacgcagtttgcatacagctgtgtgcaggagcacgtggtgtggagcacgcca
cagttctgggaggccatgttctatggggatgtgcagactcacatccgggccctctacctg
gagcccacggaggacctggcccccgcccaggaggttggggaggcaccttcccaggaggac
gagcgctctgccctagacgtggcttctgagcagcggcgcttgtggccaactctgagtcgt
gagaagcagcaggagctggtgcagaaggaggagagcacggtgttcagccaggccatccac
tatgccaaccgcatgagctacctcctcctgcccctggacagcagcaagagccgcctactt
cgggagcgtgccgggctgggcgacctggagagcgccagcaacagcctggtcaccaacagc
atggctggcagtgtggccgagagctatgacacggagagcggcttcgaggatgcagagacc
tgcgacgtagctggggctgtggtccgcttcatcaaccgctttgtggacaaggtctgcacg
gagagtggggtcaccagcgaccacctcaaggggctgcatgtcatggtgccagacattgtc
cagatgcacatcgagaccctggaggccgtgcagcgggagagccggaggctgccgcccatc
cagaagcccaagctgctgcggccgcgcctgctgccgggtgaggagtgtgtgctggacggc
ctgcgcgtctacctgctgccggatgggcgtgaggagggcgcggggggcagtgctggggga
ccagcattgctcccagctgagggcgccgtcttcctcaccacgtaccgggtcatcttcacg
gggatgcccacggaccccctggttggggagcaggtggtggtccgctccttcccggtggct
gcgctgaccaaggagaagcgcatcagcgtccagacccctgtggaccagctcctgcaggac
gggctccagctgcgctcctgcacattccagctgctgaaaatggcctttgacgaggaggtg
gggtctgacagcgccgagctcttccgtaagcagctgcataagctgcggtacccgccggac
atcagggccacctttgcgttcaccttgggctctgcccacacacctggccggccaccgcga
gtcaccaaggacaagggtccttccctcagaaccctgtcccggaacctggtcaagaacgcc
aagaagaccatcgggcggcagcatgtcactcgcaagaagtacaacccccccagctgggag
caccggggccagccgccccctgaggaccaggaggacgagatctcagtgtcggaggagctg
gagcccagcacgctgaccccgtcctcagccctgaagccctccgaccgcatgaccatgagc
agcctggtggaaagggcttgctgtcgcgactaccagcgcctcggtctgggcaccctgagc
agcagcctgagccgggccaagtctgagcccttccgcatttctccggtcaaccgcatgtat
gccatctgccgcagctacccagggctgctgatcgtgccccagagtgtccaggacaacgcc
ctgcagcgcgtgtcccgctgctaccgccagaaccgcttccccgtggtctgctggcgcagc
gggcggtccaaggcggtgctgctgcgctctggaggcctgcatggcaaaggtgtcgtcggc
ctcttcaaggcccagaacgcaccttctccaggccagtcccaggcggactcgagtagcctg
gagcaggagaagtacctgcaggctgtggtcagctccatgccccgctacgccgacgcgtcg
ggacgcaacacgcttagcggcttctcctcagcccacatgggcagtcacggtaagtggggc
agtgtccggaccagtggacgcagcagtggccttggcaccgatgtgggctcccggctagct
ggcagagacgcgctggccccaccccaggccaacgggggccctcccgacccgggcttcctg
cgtccgcagcgagcagccctctatatccttggggacaaagcccagctcaagggtgtgcgg
tcagaccccctgcagcagtgggagctggtgcccattgaggtattcgaggcacggcaggtg
aaggctagcttcaagaagctgctgaaagcatgtgtcccaggctgccccgctgctgagccc
agcccagcctccttcctgcgctcactggaggactcagagtggctgatccagatccacaag
ctgctgcaggtgtctgtgctggtggtggagctcctggattcaggctcctccgtgctggtg
ggcctggaggatggctgggacatcaccacccaggtggtatccttggtgcagctgctctca
gaccccttctaccgcacgctggagggctttcgcctgctggtggagaaggagtggctgtcc
ttcggccatcgcttcagccaccgtggagctcacaccctggccgggcagagcagcggcttc
acacccgtcttcctgcagttcctggactgcgtacaccaggtccacctgcagttccccatg
gagtttgagttcagccagttctacctcaagttcctcggctaccaccatgtgtcccgccgt
ttccggaccttcctgctcgactctgactatgagcgcattgagctggggctgctgtatgag
gagaagggggaacgcaggggccaggtgccgtgcaggtctgtgtgggagtatgtggaccgg
ctgagcaagaggacgcctgtgttccacaattacatgtatgcgcccgaggacgcagaggtc
ctgcggccctacagcaacgtgtccaacctgaaggtgtgggacttctacactgaggagacg
ctggccgagggccctccctatgactgggaactggcccaggggccccctgaacccccagag
gaagaacggtctgatggaggcgctccccagagcaggcgccgcgtggtgtggccctgttac
gacagctgcccgcgggcccagcctgacgccatctcacgcctgctggaggagctgcagagg
ctggagacagagttgggccaacccgctgagcgctggaaggacacctgggaccgggtgaag
gctgcacagcgcctcgagggccggccagacggccgtggcacccctagctccctccttgtg
tccaccgcaccccaccaccgtcgctcgctgggtgtgtacctgcaggaggggcccgtgggc
tccaccctgagcctcagcctggacagcgaccagagtagtggctcaaccacatccggctcc
cgtcaggctgcccgccgcagcaccagcaccctgtacagccagttccagacagcagagagt
gagaacaggtcctacgagggcactctgtacaagaagggggccttcatgaagccttggaag
gcccgctggttcgtgctggacaagaccaagcaccagctgcgctactacgaccaccgtgtg
gacacagagtgcaagggtgtcatcgacttggcggaggtggaggctgtggcacctggcacg
cccactatgggtgcccctaagactgtggacgagaaggccttctttgacgtgaagacaacg
cgtcgcgtttacaacttctgtgcccaggacgtgccctcggcccagcagtgggtggaccgg
atccagagctgcctgtcggacgcctga

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