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_002963
OMIM: 603560
HGNC: 10542
Ensembl: ENSG00000100241
UniProt: O95248
Position
22:complement(50445000..50475035)
AA seq 1893 aa
MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPER
NPPTFFVAVLTDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTA
PAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAG
GSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFLS
RSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELL
DVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSL
KMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVL
EGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENP
YPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVP
SGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRC
LAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSP
GVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDE
RSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLR
ERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTE
SGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGL
RVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAA
LTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDI
RATFAFTLGSAHTPGRPPRVTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEH
RGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVERACCRDYQRLGLGTLSS
SLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRSG
RSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASG
RNTLSGFSSAHMGSHVPSPRARVTTLSNPMAASASRRTAPRGKWGSVRTSGRSSGLGTDV
GSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVF
EARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSG
SSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAG
QSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIEL
GLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDF
YTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLL
EELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQ
EGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAF
MKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFF
DVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA
NT seq 5682 nt   +upstreamnt  +downstreamnt
atggcgcggctcgcggactacttcgtgctggtggcgttcgggccgcacccgcgcgggagt
ggggaaggccagggccagattctgcagcgcttcccagagaaggactgggaggacaaccca
ttcccccagggcatcgagctgttttgccagcccagcgggtggcagctgtgtcccgagagg
aatccaccgaccttctttgttgctgtcctcaccgacatcaactccgagcgccactactgc
gcctgcttgaccttctgggagccagcggagccttcacaggaaacgacgcgcgtggaggat
gccacagagagggaggaagagggggatgagggaggccagacccacctgtctcccacagca
cctgccccatctgcccagctgtttgcaccgaagacgctggtactggtgtcgcgactcgac
cacacggaggtgttcaggaacagccttggcctcatctatgccatccacgtggagggcctg
aatgtgtgcctggagaacgtgattgggaacctgctgacgtgcactgtgcccctggctggg
ggctcgcagaggacgatctctttgggggctggtgaccggcaggtcatccagactccactg
gccgactcgctgcccgtcagccgctgcagcgtggccctgctcttccgccagctaggcatc
accaacgtgctgtctttgttctgtgccgccctcacggagcacaaggttctcttcctgtcc
cggagctaccagcggctcgccgatgcctgtaggggcctcctggcactgctgtttcctctc
agatacagcttcacctatgtgcccatcctgccggctcagctgctggaggtcctcagcaca
cccacgcccttcatcattggggtcaacgcggccttccaggcagagacccaggagctgctc
gatgtgattgttgctgatctggatggagggacggtcaccattcctgagtgtgtgcacatt
ccacccttgccagagccactgcagagtcagacgcacagtgtgctgagcatggtcctggac
ccggagctggagttggctgacctcgccttccctccgcccacgacatccacctcctccctg
aagatgcaggacaaggagctgcgcgcggtcttcctgcggctgttcgctcagctgctgcag
ggctatcgctggtgcctgcacgtcgtgcgcatccacccggagcctgtcatccgcttccat
aaggcagccttcctgggccagcgtgggctggtagaggacgatttcctgatgaaggtgctg
gagggcatggcctttgctggctttgtgtcagagcgtggggtcccataccgccctacggac
ctgttcgatgagctggtggcccacgaggtggcaaggatgcgggcggatgagaaccacccc
cagcgtgtcctgcgtcacgtccaggaactggcagagcagctctacaagaacgagaacccg
tacccagccgtggcgatgcacaaggtacagaggcccggtgagagcagccacctgcgacgg
gtgccccgacccttcccccggctggatgagggcaccgtgcagtggatcgtggaccaggct
gcagccaagatgcagggtgcacccccagctgtgaaggccgagaggaggaccaccgtgccc
tcagggccccccatgactgccatactggagcggtgcagtgggctgcatgtcaacagcgcc
cggcggctggaggttgtgcgcaactgcatctcctacgtgtttgaggggaaaatgcttgag
gccaagaagctgctcccagccgtgttgagggccctgaaggggcgagctgcccgccgctgc
ctcgcccaggagctgcacctgcatgtgcagcagaaccgtgcggtcctggaccaccagcag
tttgactttgtcgtccgtatgatgaactgctgcctgcaggactgcacttctctggacgag
catggcattgcggcggctctgctgcctctggtcacagccttctgccggaagctgagcccg
ggggtgacgcagtttgcatacagctgtgtgcaggagcacgtggtgtggagcacgccacag
ttctgggaggccatgttctatggggatgtgcagactcacatccgggccctctacctggag
cccacggaggacctggcccccgcccaggaggttggggaggcaccttcccaggaggacgag
cgctctgccctagacgtggcttctgagcagcggcgcttgtggccaactctgagtcgtgag
aagcagcaggagctggtgcagaaggaggagagcacggtgttcagccaggccatccactat
gccaaccgcatgagctacctcctcctgcccctggacagcagcaagagccgcctacttcgg
gagcgtgccgggctgggcgacctggagagcgccagcaacagcctggtcaccaacagcatg
gctggcagtgtggccgagagctatgacacggagagcggcttcgaggatgcagagacctgc
gacgtagctggggctgtggtccgcttcatcaaccgctttgtggacaaggtctgcacggag
agtggggtcaccagcgaccacctcaaggggctgcatgtcatggtgccagacattgtccag
atgcacatcgagaccctggaggccgtgcagcgggagagccggaggctgccgcccatccag
aagcccaagctgctgcggccgcgcctgctgccgggtgaggagtgtgtgctggacggcctg
cgcgtctacctgctgccggatgggcgtgaggagggcgcggggggcagtgctgggggacca
gcattgctcccagctgagggcgccgtcttcctcaccacgtaccgggtcatcttcacgggg
atgcccacggaccccctggttggggagcaggtggtggtccgctccttcccggtggctgcg
ctgaccaaggagaagcgcatcagcgtccagacccctgtggaccagctcctgcaggacggg
ctccagctgcgctcctgcacattccagctgctgaaaatggcctttgacgaggaggtgggg
tctgacagcgccgagctcttccgtaagcagctgcataagctgcggtacccgccggacatc
agggccacctttgcgttcaccttgggctctgcccacacacctggccggccaccgcgagtc
accaaggacaagggtccttccctcagaaccctgtcccggaacctggtcaagaacgccaag
aagaccatcgggcggcagcatgtcactcgcaagaagtacaacccccccagctgggagcac
cggggccagccgccccctgaggaccaggaggacgagatctcagtgtcggaggagctggag
cccagcacgctgaccccgtcctcagccctgaagccctccgaccgcatgaccatgagcagc
ctggtggaaagggcttgctgtcgcgactaccagcgcctcggtctgggcaccctgagcagc
agcctgagccgggccaagtctgagcccttccgcatttctccggtcaaccgcatgtatgcc
atctgccgcagctacccagggctgctgatcgtgccccagagtgtccaggacaacgccctg
cagcgcgtgtcccgctgctaccgccagaaccgcttccccgtggtctgctggcgcagcggg
cggtccaaggcggtgctgctgcgctctggaggcctgcatggcaaaggtgtcgtcggcctc
ttcaaggcccagaacgcaccttctccaggccagtcccaggcggactcgagtagcctggag
caggagaagtacctgcaggctgtggtcagctccatgccccgctacgccgacgcgtcggga
cgcaacacgcttagcggcttctcctcagcccacatgggcagtcacgttcccagccccaga
gccagggtcaccacgctgtccaaccccatggcggcctcggcctccagacggaccgcaccc
cgaggtaagtggggcagtgtccggaccagtggacgcagcagtggccttggcaccgatgtg
ggctcccggctagctggcagagacgcgctggccccaccccaggccaacgggggccctccc
gacccgggcttcctgcgtccgcagcgagcagccctctatatccttggggacaaagcccag
ctcaagggtgtgcggtcagaccccctgcagcagtgggagctggtgcccattgaggtattc
gaggcacggcaggtgaaggctagcttcaagaagctgctgaaagcatgtgtcccaggctgc
cccgctgctgagcccagcccagcctccttcctgcgctcactggaggactcagagtggctg
atccagatccacaagctgctgcaggtgtctgtgctggtggtggagctcctggattcaggc
tcctccgtgctggtgggcctggaggatggctgggacatcaccacccaggtggtatccttg
gtgcagctgctctcagaccccttctaccgcacgctggagggctttcgcctgctggtggag
aaggagtggctgtccttcggccatcgcttcagccaccgtggagctcacaccctggccggg
cagagcagcggcttcacacccgtcttcctgcagttcctggactgcgtacaccaggtccac
ctgcagttccccatggagtttgagttcagccagttctacctcaagttcctcggctaccac
catgtgtcccgccgtttccggaccttcctgctcgactctgactatgagcgcattgagctg
gggctgctgtatgaggagaagggggaacgcaggggccaggtgccgtgcaggtctgtgtgg
gagtatgtggaccggctgagcaagaggacgcctgtgttccacaattacatgtatgcgccc
gaggacgcagaggtcctgcggccctacagcaacgtgtccaacctgaaggtgtgggacttc
tacactgaggagacgctggccgagggccctccctatgactgggaactggcccaggggccc
cctgaacccccagaggaagaacggtctgatggaggcgctccccagagcaggcgccgcgtg
gtgtggccctgttacgacagctgcccgcgggcccagcctgacgccatctcacgcctgctg
gaggagctgcagaggctggagacagagttgggccaacccgctgagcgctggaaggacacc
tgggaccgggtgaaggctgcacagcgcctcgagggccggccagacggccgtggcacccct
agctccctccttgtgtccaccgcaccccaccaccgtcgctcgctgggtgtgtacctgcag
gaggggcccgtgggctccaccctgagcctcagcctggacagcgaccagagtagtggctca
accacatccggctcccgtcaggctgcccgccgcagcaccagcaccctgtacagccagttc
cagacagcagagagtgagaacaggtcctacgagggcactctgtacaagaagggggccttc
atgaagccttggaaggcccgctggttcgtgctggacaagaccaagcaccagctgcgctac
tacgaccaccgtgtggacacagagtgcaagggtgtcatcgacttggcggaggtggaggct
gtggcacctggcacgcccactatgggtgcccctaagactgtggacgagaaggccttcttt
gacgtgaagacaacgcgtcgcgtttacaacttctgtgcccaggacgtgccctcggcccag
cagtgggtggaccggatccagagctgcctgtcggacgcctga

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