KEGG   Homo sapiens (human): 55870
Entry
55870             CDS       T01001                                 
Symbol
ASH1L, ASH1, ASH1L1, KMT2H, MRD52
Name
(RefSeq) ASH1 like histone lysine methyltransferase
  KO
K06101  [histone H3]-lysine4 N-trimethyltransferase ASH1L [EC:2.1.1.354]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa01100  Metabolic pathways
Disease
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    55870 (ASH1L)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    55870 (ASH1L)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.354  [histone H3]-lysine4 N-trimethyltransferase
     55870 (ASH1L)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HMTs (histone methyltransferases)
    HKMTs (histone lysine methyltransferases)
     55870 (ASH1L)
SSDB
Motif
Pfam: SET BAH AWS Bromodomain PHD_5 PHD PHD_2
Other DBs
NCBI-GeneID: 55870
NCBI-ProteinID: NP_060959
OMIM: 607999
HGNC: 19088
Ensembl: ENSG00000116539
UniProt: Q9NR48
Structure
Position
1:complement(155335268..155563202)
AA seq 2964 aa
MDPRNTAMLGLGSDSEGFSRKSPSAISTGTLVSKREVELEKNTKEEEDLRKRNRERNIEA
GKDDGLTDAQQQFSVKETNFSEGNLKLKIGLQAKRTKKPPKNLENYVCRPAIKTTIKHPR
KALKSGKMTDEKNEHCPSKRDPSKLYKKADDVAAIECQSEEVIRLHSQGENNPLSKKLSP
VHSEMADYINATPSTLLGSRDPDLKDRALLNGGTSVTEKLAQLIATCPPSKSSKTKPKKL
GTGTTAGLVSKDLIRKAGVGSVAGIIHKDLIKKPTISTAVGLVTKDPGKKPVFNAAVGLV
NKDSVKKLGTGTTAVFINKNLGKKPGTITTVGLLSKDSGKKLGIGIVPGLVHKESGKKLG
LGTVVGLVNKDLGKKLGSTVGLVAKDCAKKIVASSAMGLVNKDIGKKLMSCPLAGLISKD
AINLKAEALLPTQEPLKASCSTNINNQESQELSESLKDSATSKTFEKNVVRQNKESILEK
FSVRKEIINLEKEMFNEGTCIQQDSFSSSEKGSYETSKHEKQPPVYCTSPDFKMGGASDV
STAKSPFSAVGESNLPSPSPTVSVNPLTRSPPETSSQLAPNPLLLSSTTELIEEISESVG
KNQFTSESTHLNVGHRSVGHSISIECKGIDKEVNDSKTTHIDIPRISSSLGKKPSLTSES
SIHTITPSVVNFTSLFSNKPFLKLGAVSASDKHCQVAESLSTSLQSKPLKKRKGRKPRWT
KVVARSTCRSPKGLELERSELFKNVSCSSLSNSNSEPAKFMKNIGPPSFVDHDFLKRRLP
KLSKSTAPSLALLADSEKPSHKSFATHKLSSSMCVSSDLLSDIYKPKRGRPKSKEMPQLE
GPPKRTLKIPASKVFSLQSKEEQEPPILQPEIEIPSFKQGLSVSPFPKKRGRPKRQMRSP
VKMKPPVLSVAPFVATESPSKLESESDNHRSSSDFFESEDQLQDPDDLDDSHRPSVCSMS
DLEMEPDKKITKRNNGQLMKTIIRKINKMKTLKRKKLLNQILSSSVESSNKGKVQSKLHN
TVSSLAATFGSKLGQQINVSKKGTIYIGKRRGRKPKTVLNGILSGSPTSLAVLEQTAQQA
AGSALGQILPPLLPSSASSSEILPSPICSQSSGTSGGQSPVSSDAGFVEPSSVPYLHLHS
RQGSMIQTLAMKKASKGRRRLSPPTLLPNSPSHLSELTSLKEATPSPISESHSDETIPSD
SGIGTDNNSTSDRAEKFCGQKKRRHSFEHVSLIPPETSTVLSSLKEKHKHKCKRRNHDYL
SYDKMKRQKRKRKKKYPQLRNRQDPDFIAELEELISRLSEIRITHRSHHFIPRDLLPTIF
RINFNSFYTHPSFPLDPLHYIRKPDLKKKRGRPPKMREAMAEMPFMHSLSFPLSSTGFYP
SYGMPYSPSPLTAAPIGLGYYGRYPPTLYPPPPSPSFTTPLPPPSYMHAGHLLLNPAKYH
KKKHKLLRQEAFLTTSRTPLLSMSTYPSVPPEMAYGWMVEHKHRHRHKHREHRSSEQPQV
SMDTGSSRSVLESLKRYRFGKDAVGERYKHKEKHRCHMSCPHLSPSKSLINREEQWVHRE
PSESSPLALGLQTPLQIDCSESSPSLSLGGFTPNSEPASSDEHTNLFTSAIGSCRVSNPN
SSGRKKLTDSPGLFSAQDTSLNRLHRKESLPSNERAVQTLAGSQPTSDKPSQRPSESTNC
SPTRKRSSSESTSSTVNGVPSRSPRLVASGDDSVDSLLQRMVQNEDQEPMEKSIDAVIAT
ASAPPSSSPGRSHSKDRTLGKPDSLLVPAVTSDSCNNSISLLSEKLTSSCSPHHIKRSVV
EAMQRQARKMCNYDKILATKKNLDHVNKILKAKKLQRQARTGNNFVKRRPGRPRKCPLQA
VVSMQAFQAAQFVNPELNRDEEGAALHLSPDTVTDVIEAVVQSVNLNPEHKKGLKRKGWL
LEEQTRKKQKPLPEEEEQENNKSFNEAPVEIPSPSETPAKPSEPESTLQPVLSLIPREKK
PPRPPKKKYQKAGLYSDVYKTTDPKSRLIQLKKEKLEYTPGEHEYGLFPAPIHVGKYLRQ
KRIDFQLPYDILWQWKHNQLYKKPDVPLYKKIRSNVYVDVKPLSGYEATTCNCKKPDDDT
RKGCVDDCLNRMIFAECSPNTCPCGEQCCNQRIQRHEWVQCLERFRAEEKGWGIRTKEPL
KAGQFIIEYLGEVVSEQEFRNRMIEQYHNHSDHYCLNLDSGMVIDSYRMGNEARFINHSC
DPNCEMQKWSVNGVYRIGLYALKDMPAGTELTYDYNFHSFNVEKQQLCKCGFEKCRGIIG
GKSQRVNGLTSSKNSQPMATHKKSGRSKEKRKSKHKLKKRRGHLSEEPSENINTPTRLTP
QLQMKPMSNRERNFVLKHHVFLVRNWEKIRQKQEEVKHTSDNIHSASLYTRWNGICRDDG
NIKSDVFMTQFSALQTARSVRTRRLAAAEENIEVARAARLAQIFKEICDGIISYKDSSRQ
ALAAPLLNLPPKKKNADYYEKISDPLDLITIEKQILTGYYKTVEAFDADMLKVFRNAEKY
YGRKSPVGRDVCRLRKAYYNARHEASAQIDEIVGETASEADSSETSVSEKENGHEKDDDV
IRCICGLYKDEGLMIQCDKCMVWQHCDCMGVNSDVEHYLCEQCDPRPVDREVPMIPRPHY
AQPGCVYFICLLRDDLLLRQGDCVYLMRDSRRTPDGHPVRQSYRLLSHINRDKLDIFRIE
KLWKNEKEERFAFGHHYFRPHETHHSPSRRFYHNELFRVPLYEIIPLEAVVGTCCVLDLY
TYCKGRPKGVKEQDVYICDYRLDKSAHLFYKIHRNRYPVCTKPYAFDHFPKKLTPKKDFS
PHYVPDNYKRNGGRSSWKSERSKPPLKDLGQEDDALPLIEEVLASQEQAANEIPSLEEPE
REGATANVSEGEKKTEESSQEPQSTCTPEERRHNQRERLNQILLNLLEKIPGKNAIDVTY
LLEEGSGRKLRRRTLFIPENSFRK
NT seq 8895 nt   +upstreamnt  +downstreamnt
atggaccctagaaatactgctatgttaggattgggttctgattccgaaggtttttcaaga
aagagtccttctgccatcagtactggcacattggtcagtaagagagaagtagagctagaa
aaaaacacaaaggaggaagaggaccttcgcaaacggaatcgagaaagaaacatcgaagct
gggaaagatgatggtttgactgatgcacagcaacagttttcagtgaaagaaacaaacttt
tcagagggaaatttaaaattgaaaattggcctccaggctaagagaactaaaaaacctcca
aagaacttggagaactatgtatgtcgacctgccataaaaacaactattaagcacccaagg
aaagcacttaaaagtggaaagatgacggatgaaaagaatgaacactgtccttcaaaacga
gacccttcaaagttgtacaagaaagcagatgatgttgcagccattgaatgccagtctgaa
gaagtcatccgtcttcattcacagggagaaaacaatcctttgtctaagaagctgtctcca
gtacactcagaaatggcagattatattaatgcaacgccatctactcttcttggtagccgg
gatcctgatttaaaggacagagcattacttaatggaggaactagtgtaacagaaaagttg
gcacagctgattgctacctgtcctccttccaagtcttccaagacaaaaccgaagaagtta
ggaactggcactacagcaggattggttagcaaggatttgatcaggaaagcaggtgttggc
tctgtagctggaataatacataaggacttaataaaaaagccaaccatcagcacagcagtt
ggattggtaactaaagatcctgggaaaaagccagtgtttaatgcagcagtaggattggtc
aataaggactctgtgaaaaaactgggaactggcactacagcggtattcattaataaaaac
ttaggcaaaaagccaggaactatcactacagtaggactgctaagcaaagattcaggaaag
aagctaggaattggtattgttccaggtttagtgcataaagagtctggcaagaagttagga
cttggcactgtggttggactggttaataaagatttgggaaagaaattgggttctactgtt
ggcctagtggccaaggactgtgcaaagaagattgtagcaagttcagcaatgggattggtt
aataaggacattggaaagaaactaatgagttgtcctttggcaggtctgatcagtaaagat
gccataaaccttaaagccgaagcactgctccccactcaggaaccgcttaaggcttcttgt
agtacaaacatcaataatcaggaaagtcaggaactttctgaatccctgaaagatagtgcc
accagcaaaacttttgaaaagaatgttgtacggcagaataaagaaagcatattggaaaag
ttctcagtacgaaaagaaatcattaatttggagaaagaaatgtttaatgaaggaacatgc
attcagcaagacagtttctcatccagtgaaaagggatcttatgaaacctcaaagcatgaa
aagcagcctcctgtatattgcacttctccggactttaaaatgggaggtgcttctgatgta
tctaccgctaaatccccattcagtgcagtaggagaaagcaatctcccttccccatcacct
actgtatctgttaatcctttaaccagaagtccccctgaaacttcttcacagttggctcct
aatccattacttttaagttctactacagaactaatcgaagaaatttctgaatctgttgga
aagaaccagtttacttctgaaagtacccacttgaacgttggtcataggtcagttggtcat
agtataagtattgaatgtaaagggattgataaagaggtaaatgattcaaaaactacccat
atagatattccaagaataagctcttcccttggaaaaaagccaagtttgacttctgaatcc
agcattcatactattactccttcagttgttaacttcactagtttatttagtaataagcct
tttttaaaactgggtgcagtatctgcatcagacaaacactgccaagttgctgaaagccta
agtactagtttgcagtccaaaccattaaaaaaaagaaaaggaagaaaacctcggtggact
aaagtggtggcaagaagcacatgccggtctccaaaagggctagaattagaaagatcagag
ctttttaaaaacgtttcatgtagctcactatcaaatagtaattctgagccagccaagttt
atgaaaaacattggacccccttcatttgtagatcatgacttccttaaacgccgattgcca
aagttgagcaaatccacagctccatctcttgctctcttagctgatagtgaaaaaccatct
cataagtcttttgctactcacaaactatcctccagtatgtgtgtctctagtgaccttttg
tctgatatttataagcccaaaagaggaaggcctaaatctaaggagatgcctcaactggaa
gggccacctaaaaggactttaaaaatccctgcttctaaagtgttttctttacagtctaag
gaagaacaagaacccccaattttacagccagaaattgaaatcccttccttcaaacaaggt
ctgtctgtgtctccttttccaaaaaagagaggcaggcctaagaggcaaatgaggtcacca
gtcaagatgaagccacctgtactgtcagtggctccatttgttgccactgaaagtccaagc
aagctagaatctgaaagtgacaaccatagaagtagcagtgatttctttgagagcgaggat
caacttcaggatccagatgacctagatgacagtcataggccaagtgtctgtagtatgagt
gaccttgagatggaaccagataaaaaaattaccaagagaaacaatggacaattaatgaaa
acaattatccgcaaaataaataaaatgaagactttaaagagaaagaaactgttgaatcag
attctttcaagttctgtagaatcaagtaataaagggaaagtgcaatccaaactccataat
acggtatcaagtcttgctgccacatttggctctaaattgggccaacagataaatgtcagc
aagaaaggaaccatttatataggaaagagaagaggtcgcaaaccaaaaactgtcttaaat
ggtattctttctggtagtcctactagccttgctgttcttgagcaaacagctcaacaggca
gctgggtcagcattaggacagattcttcccccattactgccttcatctgctagtagttct
gagattcttccatcacctatttgctctcagtcttctgggactagtggaggtcagagccct
gtaagtagtgatgcaggttttgttgaacccagttcagtgccatatttgcatttacactcc
agacagggcagtatgattcagactcttgcaatgaagaaggcctcaaaggggaggaggcgg
ttatctcctcctactttgttgccaaattctccttcgcacttgagtgaactcacatctcta
aaagaagctactccttccccaatcagtgagtctcatagtgatgagaccattcccagtgat
agtggaattggaacagataataacagcacatcagacagggcagagaaattttgtgggcaa
aaaaagaggaggcattcttttgagcatgtttctctgattccccctgaaacctctacagtg
ctaagcagtcttaaagaaaaacataaacacaaatgtaagcgcaggaatcatgattacctc
agctatgacaagatgaaaaggcagaaacgaaaacggaaaaagaaatatccccagcttcga
aatagacaggatccagactttattgcagagctggaggaactaataagtcgcctaagtgaa
attcggatcactcatcgaagtcatcattttatcccccgagatcttctgccaactatcttt
cgaatcaactttaatagtttctatacacatccttctttccccttagaccctttgcactac
attcgaaaacctgacttaaaaaagaaaagagggagaccccctaagatgagggaggcaatg
gctgaaatgccttttatgcacagccttagttttcctctttctagtactggattctatcca
tcttatggtatgccttactctccttcaccccttacagctgctcccataggattaggttac
tatggaaggtatcctcccactctttatccacctcctccatctccttctttcaccacgcca
cttccacctccttcctatatgcatgctggtcatttacttctcaatcctgccaaataccat
aagaaaaagcataagctacttcgacaggaggcctttcttacaaccagcaggactcccctc
ctttccatgagtacctaccccagtgttcctcctgagatggcctatggttggatggttgag
cacaaacacaggcaccgtcacaaacacagagaacaccgttcttctgaacaaccccaggtt
tctatggacactggctcttcccgatctgtcctggaatctttgaagcgctatagatttgga
aaggatgctgttggagagcgatataagcataaggaaaagcaccgttgtcacatgtcctgc
cctcatctctctccttcaaaaagcttaataaacagagaggaacagtgggtccaccgagag
ccttcagaatctagtccattggccttgggattgcagacacctttacagattgactgttca
gaaagttctccaagcttatcccttggaggattcactcccaactctgagccagccagcagt
gatgaacatacaaaccttttcacaagtgcaataggcagctgcagagtttcaaaccctaac
tccagtggccggaagaaattaactgacagccctggactcttttctgcacaggacacttca
ctaaatcggcttcacagaaaggagtcactgccttctaacgaaagggcagtacagactttg
gcaggctcccagccaacctctgataaaccctcccagcggccatcagagagcacaaattgt
agccctacccggaaaaggtcttcatctgagagtacttcttcaacagtaaacggagttccc
tctcgaagtccaagattagttgcttctggggatgactctgtggatagtctgctgcagcgg
atggtacaaaatgaggaccaagagcccatggagaaaagtattgatgctgtgattgcaact
gcctctgcaccaccttcttccagtccaggccgtagccacagcaaggaccgaaccctggga
aaaccagacagccttttagtgcctgcagtcacaagtgactcttgcaataatagcatctca
ctcctatctgaaaagttgacaagcagctgttccccccatcatatcaagagaagtgtagtg
gaagctatgcaacgccaagctcggaaaatgtgcaattacgacaaaatcttggccacaaag
aaaaacctagaccatgtcaataaaatcttaaaagccaaaaaacttcaaaggcaggccagg
acagggaataactttgtgaaacgtaggccaggtcgacctcggaaatgtccccttcaggct
gtcgtatcaatgcaagcattccaggctgctcagtttgtcaacccagaattgaacagagac
gaggaaggagcagcactgcacctcagtcctgacacagttacagatgtaattgaggctgtt
gttcagagtgtaaatctgaacccagaacataaaaaggggttgaagagaaaaggttggcta
ttggaagaacagaccagaaaaaagcagaagccattaccagaggaagaagagcaagagaat
aataaaagctttaatgaagcaccagttgagattcccagtccttctgaaaccccagctaaa
ccttctgaacctgaaagtaccttgcagcctgtgctttctctcatcccaagggaaaagaag
cccccacgtcccccaaagaagaagtatcagaaagcagggctgtattctgacgtttacaaa
actacagacccaaagagtcgattgatccaattaaagaaagagaagctggagtatactcca
ggagagcatgaatatggattatttccagcgcccattcatgttggaaagtatctaagacaa
aagagaattgacttccagcttccttatgatatcctttggcagtggaaacacaatcagcta
tacaaaaagccagatgtcccactatataagaaaattcgttcaaatgtctacgttgatgtc
aaacccctttctggttacgaagctaccacctgtaactgtaagaagccagatgatgacacc
aggaagggctgtgttgatgactgcctcaatagaatgatctttgctgagtgttcccccaac
acttgcccatgtggcgagcaatgctgtaaccagaggatacagaggcatgaatgggtgcaa
tgtctagaacgatttcgagctgaggaaaaaggttggggaatcagaaccaaagagccccta
aaagctgggcagttcatcattgaatacctaggggaggtcgtcagtgaacaggagttcagg
aacaggatgattgagcagtatcataatcacagtgaccactactgcctgaacctggatagt
gggatggtgattgacagttaccgcatgggaaatgaggcccgattcatcaaccatagctgt
gacccaaattgtgaaatgcagaaatggtctgttaatggagtataccggattggactctat
gctcttaaagacatgccagctgggactgaactcacttatgattataactttcattccttc
aatgtggaaaaacagcaactttgtaagtgtggctttgagaaatgtcgaggaatcatcgga
ggcaagagtcagcgtgtgaatggactcaccagcagcaaaaacagccagcccatggccaca
cacaaaaaatctggacggtcaaaagagaagagaaagtctaagcacaagctgaagaaaagg
agaggccatctctctgaggaacccagtgaaaatatcaacaccccaactagattgaccccc
caattacagatgaagccaatgtccaatcgtgaaaggaactttgtgttaaagcatcatgta
ttcttggtccgaaactgggagaagattcgtcaaaaacaggaggaagtaaagcacaccagt
gataatattcactcagcatcattatatacccgttggaatgggatctgccgagatgatggg
aatatcaagtctgatgtcttcatgacccagttctctgccctgcagacagctcgatctgtt
cgaacaagacggttggcagctgcagaggaaaatattgaagtggctcgggcagcccgccta
gcccagatcttcaaagaaatttgtgatggtatcatctcttataaagattcttcccggcaa
gcactggcagctccacttttgaaccttcccccaaagaaaaagaatgctgattattatgag
aagatctctgatcccctagatcttatcaccatagagaagcagatcctcactggttactat
aagacagtggaagcttttgatgctgacatgctcaaagtctttcggaatgctgagaagtac
tatgggcgtaaatccccagttgggagagatgtttgtcgtctacgaaaggcctattacaat
gcccggcatgaggcatcagcccagattgatgagattgtgggagagacagcaagtgaggca
gacagcagtgagacctcagtctctgaaaaggagaatgggcatgagaaggacgacgatgtt
attcgctgtatctgtggcctctacaaggatgaaggtctcatgatccagtgtgacaagtgc
atggtatggcagcactgtgattgtatgggagtgaactcagatgtggagcactacctttgt
gagcagtgtgacccaaggcctgtggacagggaggttcccatgatccctcggccccactat
gcccaacctggctgtgtctacttcatctgtttgctccgagatgacttgctgcttcgtcag
ggtgactgtgtgtatctgatgagggatagtcggcgcacccctgatggccacccggtccgt
cagtcctatcgactgttatctcacattaaccgagataaacttgacatctttcgcattgag
aagctttggaagaatgaaaaagaggaacggtttgcctttggtcaccattatttccgtccc
cacgaaacacaccactctccatcccgtcggttctatcataatgaactatttcgggtgcca
ctctatgagatcattcccttggaggctgtagtggggacctgctgtgtgttggacctttat
acgtattgtaaagggagacccaaaggagtaaaggagcaagatgtgtacatctgtgattat
cggcttgacaagtcagcacacctgttttacaagatccaccggaaccgctatcctgtctgc
accaaaccctatgcttttgatcacttccccaagaagctcactcccaaaaaagatttctcg
cctcattacgtcccagacaactacaagaggaatggaggacgatcatcctggaagtctgag
cgctcaaagccacccctaaaagacttgggccaggaggatgatgctctacccttgattgaa
gaggttctagccagtcaagagcaagcagccaatgagatacccagcctggaggagccagaa
cgggaaggggccactgctaacgtcagtgagggtgaaaaaaaaacagaggaaagtagtcaa
gaaccccagtcaacctgtacccctgaggaacgacggcataaccaacgggaacgactcaac
cagatcttgctcaatctccttgaaaaaatccctggaaaaaatgccattgatgtgacctac
ttgctggaggaaggatcaggcaggaaactgcgaaggcgtactttgtttatcccagaaaac
agctttcgaaagtga

DBGET integrated database retrieval system