KEGG   Homo sapiens (human): 171023
Entry
171023            CDS       T01001                                 

Symbol
ASXL1, BOPS, MDS
Name
(RefSeq) ASXL transcriptional regulator 1
  KO
K11471  additional sex combs-like protein
Organism
hsa  Homo sapiens (human)
Disease
H01481  Myelodysplastic syndrome
H02047  Bohring-Opitz syndrome
H02410  Myelodysplastic/myeloproliferative neoplasms
H02411  Chronic myelomonocytic leukemia
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]
    171023 (ASXL1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   Polycomb group proteins
    Other polycomb group proteins
     171023 (ASXL1)
SSDB
Motif
Pfam: ASXH PHD_3 HARE-HTH LEP503
Other DBs
NCBI-GeneID: 171023
NCBI-ProteinID: NP_056153
OMIM: 612990
HGNC: 18318
Ensembl: ENSG00000171456
Vega: OTTHUMG00000032218
Pharos: Q8IXJ9(Tbio)
UniProt: Q8IXJ9
LinkDB
Position
20q11.21
AA seq 1541 aa
MKDKQKKKKERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMRSGTSPLACLNAML
HSNSRGGEGLFYKLPGRISLFTLKKDALQWSRHPATVEGEEPEDTADVESCGSNEASTVS
GENDVSLDETSSNASCSTESQSRPLSNPRDSYRASSQANKQKKKTGVMLPRVVLTPLKVN
GAHVESASGFSGCHADGESGSPSSSSSGSLALGSAAIRGQAEVTQDPAPLLRGFRKPATG
QMKRNRGEEIDFETPGSILVNTNLRALINSRTFHALPSHFQQQLLFLLPEVDRQVGTDGL
LRLSSSALNNEFFTHAAQSWRERLADGEFTHEMQVRIRQEMEKEKKVEQWKEKFFEDYYG
QKLGLTKEESLQQNVGQEEAEIKSGLCVPGESVRIQRGPATRQRDGHFKKRSRPDLRTRA
RRNLYKKQESEQAGVAKDAKSVASDVPLYKDGEAKTDPAGLSSPHLPGTSSAAPDLEGPE
FPVESVASRIQAEPDNLARASASPDRIPSLPQETVDQEPKDQKRKSFEQAASASFPEKKP
RLEDRQSFRNTIESVHTEKPQPTKEEPKVPPIRIQLSRIKPPWVVKGQPTYQICPRIIPT
TESSCRGWTGARTLADIKARALQVRGARGHHCHREAATTAIGGGGGPGGGGGGATDEGGG
RGSSSGDGGEACGHPEPRGGPSTPGKCTSDLQRTQLLPPYPLNGEHTQAGTAMSRARRED
LPSLRKEESCLLQRATVGLTDGLGDASQLPVAPTGDQPCQALPLLSSQTSVAERLVEQPQ
LHPDVRTECESGTTSWESDDEEQGPTVPADNGPIPSLVGDDTLEKGTGQALDSHPTMKDP
VNVTPSSTPESSPTDCLQNRAFDDELGLGGSCPPMRESDTRQENLKTKALVSNSSLHWIP
IPSNDEVVKQPKPESREHIPSVEPQVGEEWEKAAPTPPALPGDLTAEEGLDPLDSLTSLW
TVPSRGGSDSNGSYCQQVDIEKLKINGDSEALSPHGESTDTASDFEGHLTEDSSEADTRE
AAVTKGSSVDKDEKPNWNQSAPLSKVNGDMRLVTRTDGMVAPQSWVSRVCAVRQKIPDSL
LLASTEYQPRAVCLSMPGSSVEATNPLVMQLLQGSLPLEKVLPPAHDDSMSESPQVPLTK
DQSHGSLRMGSLHGLGKNSGMVDGSSPSSLRALKEPLLPDSCETGTGLARIEATQAPGAP
QKNCKAVPSFDSLHPVTNPITSSRKLEEMDSKEQFSSFSCEDQKEVRAMSQDSNSNAAPG
KSPGDLTTSRTPRFSSPNVISFGPEQTGRALGDQSNVTGQGKKLFGSGNVAATLQRPRPA
DPMPLPAEIPPVFPSGKLGPSTNSMSGGVQTPREDWAPKPHAFVGSVKNEKTFVGGPLKA
NAENRKATGHSPLELVGHLEGMPFVMDLPFWKLPREPGKGLSEPLEPSSLPSQLSIKQAF
YGKLSKLQLSSTSFNYSSSSPTFPKGLAGSVVQLSHKANFGASHSASLSLQMFTDSSTVE
SISLQCACSLKAMIMCQGCGAFCHDDCIGPSKLCVLCLVVR
NT seq 4626 nt   +upstreamnt  +downstreamnt
atgaaggacaaacagaagaagaagaaggagcgcacgtgggccgaggccgcgcgcctggta
ttagaaaactactcggatgctccaatgacaccaaaacagattctgcaggtcatagaggca
gaaggactaaaggaaatgagaagtgggacttcccctctcgcatgcctcaatgctatgcta
cattccaattcaagaggaggagaggggttgttttataaactgcctggccgaatcagcctt
ttcacgctcaagaaggatgccctgcagtggtctcgccatccagctacagtggagggagag
gagccagaggacacggctgatgtggagagctgtgggtctaatgaagccagcactgtgagt
ggtgaaaacgatgtatctcttgatgaaacatcttcgaacgcatcctgttctacagaatct
cagagtcgacctctttccaatcccagggacagctacagagcttcctcacaggcgaacaaa
caaaagaaaaagactggggtgatgctgcctcgagttgtcctgactcctctgaaggtaaac
ggggcccacgtggaatctgcatcagggttctcgggctgccacgccgatggcgagagcggc
agcccgtccagcagcagcagcggctctctggccctgggcagcgctgctattcgtggccag
gccgaggtcacccaggaccctgccccgctcctgagaggcttccggaagccagccacaggt
caaatgaagcgcaacagaggggaagaaatagattttgagacacctgggtccattcttgtc
aacaccaacctccgtgccctgatcaactctcggaccttccatgccttaccatcacacttc
cagcagcagctcctcttcctcctgcctgaagtagacagacaggtggggacggatggcctg
ttgcgtctcagcagcagtgcactaaataacgagttttttacccatgcggctcagagctgg
cgggagcgcctggctgatggtgaatttactcatgagatgcaagtcaggatacgacaggaa
atggagaaggaaaagaaggtggaacaatggaaagaaaagttctttgaagactactatgga
cagaagctgggtttgaccaaagaagagtcattgcagcagaacgtgggccaggaggaggct
gaaatcaaaagtggcttgtgtgtcccaggagaatcagtgcgtatacagcgtggtccagcc
acccgacagcgagatgggcattttaagaaacgctctcggccagatctccgaaccagagcc
agaaggaatctgtacaaaaaacaggagtcagaacaagcaggggttgctaaggatgcaaaa
tctgtggcctcagatgttcccctctacaaggatggggaggctaagactgacccagcaggg
ctgagcagtccccatctgccaggcacatcctctgcagcacccgacctggagggtcccgaa
ttcccagttgagtctgtggcttctcggatccaggctgagccagacaacttggcacgtgcc
tctgcatctccagacagaattcctagcctgcctcaggaaactgtggatcaggaacccaag
gatcagaagaggaaatcctttgagcaggcggcctctgcatcctttcccgaaaagaagccc
cggcttgaagatcgtcagtcctttcgtaacacaattgaaagtgttcacaccgaaaagcca
cagcccactaaagaggagcccaaagtcccgcccatccggattcaactttcacgtatcaaa
ccaccctgggtggttaaaggtcagcccacttaccagatatgcccccggatcatccccacc
acggagtcctcctgccggggttggactggcgccaggaccctcgcagacattaaagcccgt
gctctgcaggtccgaggggcgagaggtcaccactgccatagagaggcggccaccactgcc
atcggaggggggggtggcccgggtggaggtggcggcggggccaccgatgagggaggtggc
agaggcagcagcagtggtgatggtggtgaggcctgtggccaccctgagcccaggggaggc
ccgagcacccctggaaagtgtacgtcagatctacagcgaacacaactactgccgccttat
cctctaaatggggagcatacccaggccggaactgccatgtccagagctaggagagaggac
ctgccttctctgagaaaggaggaaagctgcctactacagagggctacagttggactcaca
gatgggctaggagatgcctcccaactccccgttgctcccactggggaccagccatgccag
gccttgcccctactgtcctcccaaacctcagtagctgagagattagtggagcagcctcag
ttgcatccggatgttagaactgaatgtgagtctggcaccacttcctgggaaagtgatgat
gaggagcaaggacccaccgttcctgcagacaatggtcccattccgtctctagtgggagat
gatacattagagaaaggaactggccaagctcttgacagtcatcccactatgaaggatcct
gtaaatgtgacccccagttccacacctgaatcctcaccgactgattgcctgcagaacaga
gcatttgatgacgaattagggcttggtggctcatgccctcctatgagggaaagtgatact
agacaagaaaacttgaaaaccaaggctctcgtttctaacagttctttgcattggataccc
atcccatcgaatgatgaggtagtgaaacagcccaaaccagaatccagagaacacatacca
tctgttgagccccaggttggagaggagtgggagaaagctgctcccacccctcctgcattg
cctggggatttgacagctgaggagggtctagatcctcttgacagccttacttcactctgg
actgtgccatctcgaggaggcagtgacagcaatggcagttactgtcaacaggtggacatt
gaaaagctgaaaatcaacggagactctgaagcactgagtcctcacggtgagtccacggat
acagcctctgactttgaaggtcacctcacggaggacagcagtgaggctgacactagagaa
gctgcagtgacaaagggatcttcggtggacaaggatgagaaacccaattggaaccaatct
gccccactgtccaaggtgaatggtgacatgcgtctggttacaaggacagatgggatggtt
gctcctcagagctgggtgtctcgagtatgtgcggtccgccaaaagatcccagattcccta
ctgctggccagtactgagtaccagccaagagccgtgtgcctgtccatgcctgggtcctca
gtggaggccactaacccacttgtgatgcagttgctgcagggtagcttgcccctagagaag
gttcttccaccagcccacgatgacagcatgtcagaatccccacaagtaccacttacaaaa
gaccagagccatggctcgctacgcatgggatctttacatggtcttggaaaaaacagtggc
atggttgatggaagcagccccagttctttaagggctttgaaggagcctcttctgccagat
agctgtgaaacaggcactggtcttgccaggattgaggccacccaggctcctggagcaccc
caaaagaattgcaaggcagtcccaagttttgactccctccatccagtgacaaatcccatt
acatcctctaggaaactggaagaaatggattccaaagagcagttctcttcctttagttgt
gaagatcagaaggaagtccgtgctatgtcacaggacagtaattcaaatgctgctccagga
aagagcccaggagatcttactacctcgagaacacctcgtttctcatctccaaatgtgatc
tcctttggtccagagcagacaggtcgggccctgggtgatcagagcaatgttacaggccaa
gggaagaagctttttggctctgggaatgtggctgcaacccttcagcgccccaggcctgcg
gacccgatgcctcttcctgctgagatccctccagtttttcccagtgggaagttgggacca
agcacaaactccatgtctggtggggtacagactccaagggaagactgggctccaaagcca
catgcctttgttggcagcgtcaagaatgagaagacttttgtggggggtcctcttaaggca
aatgccgagaacaggaaagctactgggcatagtcccctggaactggtgggtcacttggaa
gggatgccctttgtcatggacttgcccttctggaaattaccccgagagccagggaagggg
ctcagtgagcctctggagccttcttctctcccctcccaactcagcatcaagcaggcattt
tatgggaagctttctaaactccaactgagttccaccagctttaattattcctctagctct
cccacctttcccaaaggccttgctggaagtgtggtgcagctgagccacaaagcaaacttt
ggtgcgagccacagtgcatcactttccttgcaaatgttcactgacagcagcacggtggaa
agcatctcgctccagtgtgcgtgcagcctgaaagccatgatcatgtgccaaggctgcggt
gcgttctgtcacgatgactgtattggaccctcaaagctctgtgtattgtgccttgtggtg
agataa

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