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)
Pathway
hsa03083  Polycomb repressive complex
Network
nt06523  Epigenetic regulation by Polycomb complexes
  Element
N01585  Deubiquitination of H2AK119
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]
 09120 Genetic Information Processing
  09126 Chromosome
   03083 Polycomb repressive complex
    171023 (ASXL1)
 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 repressive complex (PRC) and associated proteins
    PR-DUB complex
     171023 (ASXL1)
SSDB
Motif
Pfam: ASXH PHD_3 HARE-HTH
Other DBs
NCBI-GeneID: 171023
NCBI-ProteinID: NP_056153
OMIM: 612990
HGNC: 18318
Ensembl: ENSG00000171456
UniProt: Q8IXJ9
Structure
Position
20:32358331..32439319
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (8)   
   KEGG DISEASE (5)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (27)   
   KEGG ORTHOLOGY (1)   
   RefGene (18)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (27)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (25)   
DNA sequence (57)   
   RefSeq(nuc) (25)   
   GenBank (16)   
   EMBL (16)   
3D Structure (2)   
   PDB (2)   
Protein domain (3)   
   Pfam (3)   
All databases (130)   

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