KEGG   Homo sapiens (human): 26040
Entry
26040             CDS       T01001                                 
Symbol
SETBP1, MRD29, SEB
Name
(RefSeq) SET binding protein 1
  KO
K23217  SET-binding protein
Organism
hsa  Homo sapiens (human)
Disease
H00773  Autosomal dominant intellectual developmental disorder
H00922  Schinzel-Giedion midface retraction syndrome
H02410  Myelodysplastic/myeloproliferative neoplasms
H02412  Atypical chronic myeloid leukemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    26040 (SETBP1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   Other histone modification proteins
    26040 (SETBP1)
SSDB
Other DBs
NCBI-GeneID: 26040
NCBI-ProteinID: NP_056374
OMIM: 611060
HGNC: 15573
Ensembl: ENSG00000152217
UniProt: Q9Y6X0
LinkDB
Position
18:44680073..45068510
AA seq 1596 aa
MESRETLSSSRQRGGESDFLPVSSAKPPAAPGCAGEPLLSTPGPGKGIPVGGERMEPEEE
DELGSGRDVDSNSNADSEKWVAGDGLEEQEFSIKEANFTEGSLKLKIQTTKRAKKPPKNL
ENYICPPEIKITIKQSGDQKVSRAGKNSKATKEEERSHSKKKLLTASDLAASDLKGFQPQ
AYERPQKHSTLHYDTGLPQDFTGDTLKPKHQQKSSSQNHMDWSTNSDSGPVTQNCFISPE
SGRETASTSKIPALEPVASFAKAQGKKGSAGNTWSQLSNNNKDLLLGGVAPSPSSHSSPA
PPSSSAECNGLQPLVDQDGGGTKEPPEPPTVGSKKKSSKKDVISQTIPNPDLDWVKNAQK
AFDNTEGKREGYSADSAQEASPARQNVSSASNPENDSSHVRITIPIKAPSLDPTNHKRKK
RQSIKAVVEKIMPEKALASGITMSSEVVNRILSNSEGNKKDPRVPKLSKMIENESPSVGL
ETGGNAEKVIPGGVSKPRKPPMVMTPPTCTDHSPSRKLPEIQHPKFAAKRRWTCSKPKPS
TMLREAVMATSDKLMLEPPSAYPITPSSPLYTNTDSLTVITPVKKKRGRPKKQPLLTVET
IHEGTSTSPVSPISREFPGTKKRKRRRNLAKLAQLVPGEDKPMSEMKFHKKVGKLGVLDK
KTIKTINKMKTLKRKNILNQILSCSSSVALKAKAPPETSPGAAAIESKLGKQINVSKRGT
IYIGKKRGRKPRAELPPPSEEPKTAIKHPRPVSSQPDVPAVPSNFQSLVASSPAAMHPLS
TQLGGSNGNLSPASTETNFSELKTMPNLQPISALPTKTQKGIHSGTWKLSPPRLMANSPS
HLCEIGSLKEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESRRRYSFDFCSLD
NPEAIPSDTSTKNRHGHRQKHLIVDNFLAHESLKKPKHKRKRKSLQNRDDLQFLADLEEL
ITKFQVFRISHRSYTFYHENPYPSIFRINFDHYYPVPYIQYDPLLYLRRTSDLKSKKKRG
RPAKTNDTMTKVPFLQGFSYPIPSGSYYAPYGMPYTSMPMMNLGYYGQYPAPLYLSHTLG
AASPFMRPTVPPPQFHTNSHVKMSGAAKHKAKHGVHLQGPVSMGLGDMQPSLNPPKVGSA
SLSSGRLHKRKHKHKHKHKEDRILGTHDNLSGLFAGKATGFSSHILSERLSSADKELPLV
SEKNKHKEKQKHQHSEAGHKASKNNFEVDTLSTLSLSDAQHWTQAKEKGDLSSEPVDSCT
KRYSGSGGDGGSTRSENLDVFSEMNPSNDKWDSDVSGSKRRSYEGFGTYREKDIQAFKMN
RKERSSYDSSMSPGMPSPHLKVDQTAVHSKNEGSVPTMMTRKKPAAVDSVTIPPAPVLSL
LAASAATSDAVGSSLKKRFKRREIEAIQCEVRKMCNYTKILSTKKNLDHVNKILKAKRLQ
RQSKTGNNFVKKRRGRPRKQPTQFDEDSRDQMPVLEKCIDLPSKRGQKPSLSPLVLEPAA
SQDTIMATIEAVIHMAREAPPLPPPPPPPLPPPPPPPLPPPPPLPKTPRGGKRKHKPQAP
AQPPQQSPPQQPLPQEEEVKAKRQRKSRGSESEVLP
NT seq 4791 nt   +upstreamnt  +downstreamnt
atggagtccagggaaaccttaagcagctcccggcaaagagggggcgagtcagacttcctg
ccggtctcctcagccaagcccccagctgctcctggctgtgcaggagaacctttgctctcc
actccaggacctgggaaggggatcccggtgggcggagagcgcatggagccagaggaggag
gatgaactaggctcagggcgggatgtggattccaactccaacgcggacagtgagaaatgg
gtggcaggagatggtttggaagagcaggaattttctatcaaggaggcaaacttcacagag
ggaagtctgaagctaaagattcagaccacaaagcgggctaagaaacccccaaagaatttg
gagaactatatatgtccacctgagatcaagatcaccatcaagcagtctggggaccagaag
gtgtcccgtgctggaaaaaatagcaaagccacgaaggaggaagaaagaagccactccaaa
aagaagctcctcacagccagtgaccttgcagccagtgacctcaaaggatttcagccacag
gcttacgagaggccccagaaacattcaactctccattatgacacgggcctcccacaggac
ttcaccggtgacaccttaaaaccaaagcaccagcaaaaaagcagcagccagaaccacatg
gactggtccaccaactctgacagcggacccgtcactcagaattgcttcatcagtccagag
tctggcagagaaactgcaagcaccagcaagatccccgctcttgagcccgtggcttccttt
gcaaaggcccagggtaagaaaggcagtgcagggaacacgtggagtcagttgtctaacaat
aacaaagatctgctcttgggaggtgtggctccatccccaagcagccacagctcaccagcc
ccacccagcagctctgctgagtgcaacgggcttcagcccttggtggatcaagatggagga
ggtacaaaggagcccccagaaccacctacggtgggcagcaagaaaaagtccagtaaaaaa
gatgtgataagtcagaccataccaaacccagacctggattgggtcaagaatgcccagaaa
gcatttgacaatacagaagggaaaagggaaggttattccgcagatagtgcccaagaggca
tcaccagccaggcagaacgtgagttctgccagtaatcctgaaaatgactcaagtcatgtc
cggattactatccccatcaaggcaccctctctggatccaaccaaccataagaggaaaaaa
agacagtccattaaagcggtggtggaaaagatcatgccagagaaagccttggcttctgga
atcaccatgagcagtgaagtagttaacaggatactttccaactctgaggggaataagaag
gatccccgtgtccctaagttgagtaaaatgatagagaatgagtccccctcagttggcctt
gaaactggtggaaatgctgagaaagttatcccaggaggtgtgtctaagccgcggaagcca
cccatggtcatgacacctccaacgtgcacagatcactctccatccagaaagctgccagaa
atccagcatccaaaatttgctgcaaaacgaaggtggacttgcagcaaaccaaaacctagc
accatgcttcgagaggcagttatggccacctctgataaactgatgctggagcccccgtct
gcatatcccatcaccccatccagccctctctacaccaacacagacagtcttactgtgatc
actccagtcaaaaagaagcggggacgaccaaagaagcagcctttgctcacagtcgagacg
attcatgagggaacttccaccagccccgtcagtcccatcagccgagagtttcctggcact
aagaaaagaaagcgacgacgcaatttagcgaagttggcccagctagtgccgggagaggac
aaacccatgagcgagatgaaatttcacaagaaagttggaaagctcggcgtgttggataag
aagaccatcaaaactatcaataagatgaagacactcaagaggaaaaacatcttgaatcag
atcttgtcctgttccagcagcgttgctctgaaggcaaaagctcccccagagaccagccct
ggggcagcagccattgaaagcaaactgggcaagcagattaatgtcagcaagaggggaacc
atctacattggcaagaagcggggcaggaagccaagagcagagctgccacccccatccgaa
gaacccaaaacagccatcaagcaccccaggcctgtttctagccagccggatgttccagcc
gtgccttccaactttcagtcacttgtggcgtcttcaccagcagctatgcacccactttca
acacagttaggtgggtccaatggcaacctgagccctgccagcactgaaaccaatttttca
gagttgaaaactatgccaaatctccagcccatcagtgctcttccaaccaaaacccaaaag
ggaatacacagtggaacctggaagctgtctccacccagactgatggccaactccccttca
cacctgtgcgagattggctccctaaaggaaatcacgctgtcccctgtgagcgagtcccac
agtgaggagacgatccccagcgacagcggcattgggacagacaacaacagcacttctgac
caagcggagaagagctcagaatcccgaaggaggtactcttttgatttctgctccctggac
aacccggaggccattccgtccgacaccagcacaaagaaccggcatggccaccggcaaaag
catctcattgtggacaactttctggcccacgaaagcctcaagaagccaaagcacaagagg
aaacggaaaagcctgcaaaaccgcgatgacctccagtttctggcagacctggaggagcta
atcaccaagttccaagtgttcagaatctcccaccggagttacaccttctaccacgagaat
ccatatcccagcatttttcggattaattttgatcactattacccggtgccatatatccag
tatgacccgttgctctatcttcgtaggacttcagacttgaagtcaaagaagaagcgtggt
aggcctgcaaaaaccaatgacaccatgacaaaggtgccttttttacaagggttcagctac
cctattcccagtggaagttactatgcaccctatggaatgccttacacatcaatgcctatg
atgaaccttggttattacggtcagtacccagctcctttgtacctatcgcacacgcttgga
gcagcttccccattcatgaggccaacagtgccaccacctcagttccacacaaactcccac
gtaaagatgtccggtgcagctaagcataaagccaagcatggagtacacctgcagggacct
gttagcatgggccttggtgacatgcagccttctctgaaccctcccaaggtaggcagtgcc
agtctgtccagtggtcggctccataagaggaaacacaaacacaagcataagcacaaggaa
gaccggatcctagggacccatgacaacctgagtggtctttttgcaggcaaagccacaggc
ttctccagccacatcctgagcgagcggctgagtagcgcagacaaagagctcccgctggtg
agtgagaagaacaagcataaggagaaacagaagcaccagcacagcgaagccggccacaaa
gcttctaagaacaactttgaggtggacaccctgtctacactgtcactttccgacgcccag
cattggacacaggccaaggaaaaaggagacttgagcagtgagcctgtggactcatgcacg
aaaagatactctggcagtggcggggatggtggcagcacgagatcagagaacctggacgtg
ttcagtgaaatgaacccttcgaatgacaagtgggacagtgacgtgagtgggagtaaaagg
aggagctatgaaggctttggaacgtacagggaaaaggacatccaagccttcaagatgaac
cgcaaggagagaagttcttatgactcctccatgtctccagggatgccaagtccccactta
aaagtggaccagacagcagtgcatagtaagaacgaaggctcagtgcccaccatgatgacc
aggaagaagccagccgcagttgacagtgttacaattccaccagccccagtgttatctctc
cttgctgcatctgcagcaacgtcggatgcagtcggctcctccctgaagaagaggttcaag
cggcgggagatcgaagccatccagtgcgaagtgcggaagatgtgcaactacaccaagatc
ctgtccaccaagaagaacctggaccacgtgaacaagatcctgaaggccaagcggctgcag
agacaatcaaaaacaggcaacaacttcgtgaagaagaggcgcgggcgtcccaggaagcag
cccacccagttcgatgaggactccagagaccaaatgccggtgctggaaaaatgcatcgac
ctgcccagcaaaagaggccagaagcccagcctgagcccgctggtgctggagcccgccgcc
agccaagacaccatcatggccaccatcgaggcggtcatccacatggcccgggaggcgccg
cccctgcccccgccaccgccgccgcccctgccgccaccgccgccaccacccctgcccccg
ccaccccctctacccaagaccccccgaggcggaaagaggaaacacaaaccgcaggccccc
gctcagcccccacagcagtcgcccccgcagcagccccttccccaggaagaggaggtgaaa
gccaaaaggcagaggaagtcccgagggagtgagagcgaggtccttccctag

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