Homo sapiens (human): 55870
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SET
BAH
AWS
Bromodomain
PHD_5
PHD
PHD_2
Motif
Other DBs
NCBI-GeneID:
55870
NCBI-ProteinID:
NP_001353106
OMIM:
607999
HGNC:
19088
Ensembl:
ENSG00000116539
UniProt:
Q9NR48
Structure
PDB
PDBj
LinkDB
All DBs
Position
1:complement(155335268..155563202)
Genome browser
AA seq
2969 aa
AA seq
DB search
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
PPRPPKKKYQKAGLYSDVYKTTDPKSRLIQLKKEKLEYTPGEHEYGLFPAPIHVVFFVSG
KYLRQKRIDFQLPYDILWQWKHNQLYKKPDVPLYKKIRSNVYVDVKPLSGYEATTCNCKK
PDDDTRKGCVDDCLNRMIFAECSPNTCPCGEQCCNQRIQRHEWVQCLERFRAEEKGWGIR
TKEPLKAGQFIIEYLGEVVSEQEFRNRMIEQYHNHSDHYCLNLDSGMVIDSYRMGNEARF
INHSCDPNCEMQKWSVNGVYRIGLYALKDMPAGTELTYDYNFHSFNVEKQQLCKCGFEKC
RGIIGGKSQRVNGLTSSKNSQPMATHKKSGRSKEKRKSKHKLKKRRGHLSEEPSENINTP
TRLTPQLQMKPMSNRERNFVLKHHVFLVRNWEKIRQKQEEVKHTSDNIHSASLYTRWNGI
CRDDGNIKSDVFMTQFSALQTARSVRTRRLAAAEENIEVARAARLAQIFKEICDGIISYK
DSSRQALAAPLLNLPPKKKNADYYEKISDPLDLITIEKQILTGYYKTVEAFDADMLKVFR
NAEKYYGRKSPVGRDVCRLRKAYYNARHEASAQIDEIVGETASEADSSETSVSEKENGHE
KDDDVIRCICGLYKDEGLMIQCDKCMVWQHCDCMGVNSDVEHYLCEQCDPRPVDREVPMI
PRPHYAQPGCVYFICLLRDDLLLRQGDCVYLMRDSRRTPDGHPVRQSYRLLSHINRDKLD
IFRIEKLWKNEKEERFAFGHHYFRPHETHHSPSRRFYHNELFRVPLYEIIPLEAVVGTCC
VLDLYTYCKGRPKGVKEQDVYICDYRLDKSAHLFYKIHRNRYPVCTKPYAFDHFPKKLTP
KKDFSPHYVPDNYKRNGGRSSWKSERSKPPLKDLGQEDDALPLIEEVLASQEQAANEIPS
LEEPEREGATANVSEGEKKTEESSQEPQSTCTPEERRHNQRERLNQILLNLLEKIPGKNA
IDVTYLLEEGSGRKLRRRTLFIPENSFRK
NT seq
8910 nt
NT seq
+upstream
nt +downstream
nt
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
ggagagcatgaatatggattatttccagcgcccattcatgttgtgttttttgtttcagga
aagtatctaagacaaaagagaattgacttccagcttccttatgatatcctttggcagtgg
aaacacaatcagctatacaaaaagccagatgtcccactatataagaaaattcgttcaaat
gtctacgttgatgtcaaacccctttctggttacgaagctaccacctgtaactgtaagaag
ccagatgatgacaccaggaagggctgtgttgatgactgcctcaatagaatgatctttgct
gagtgttcccccaacacttgcccatgtggcgagcaatgctgtaaccagaggatacagagg
catgaatgggtgcaatgtctagaacgatttcgagctgaggaaaaaggttggggaatcaga
accaaagagcccctaaaagctgggcagttcatcattgaatacctaggggaggtcgtcagt
gaacaggagttcaggaacaggatgattgagcagtatcataatcacagtgaccactactgc
ctgaacctggatagtgggatggtgattgacagttaccgcatgggaaatgaggcccgattc
atcaaccatagctgtgacccaaattgtgaaatgcagaaatggtctgttaatggagtatac
cggattggactctatgctcttaaagacatgccagctgggactgaactcacttatgattat
aactttcattccttcaatgtggaaaaacagcaactttgtaagtgtggctttgagaaatgt
cgaggaatcatcggaggcaagagtcagcgtgtgaatggactcaccagcagcaaaaacagc
cagcccatggccacacacaaaaaatctggacggtcaaaagagaagagaaagtctaagcac
aagctgaagaaaaggagaggccatctctctgaggaacccagtgaaaatatcaacacccca
actagattgaccccccaattacagatgaagccaatgtccaatcgtgaaaggaactttgtg
ttaaagcatcatgtattcttggtccgaaactgggagaagattcgtcaaaaacaggaggaa
gtaaagcacaccagtgataatattcactcagcatcattatatacccgttggaatgggatc
tgccgagatgatgggaatatcaagtctgatgtcttcatgacccagttctctgccctgcag
acagctcgatctgttcgaacaagacggttggcagctgcagaggaaaatattgaagtggct
cgggcagcccgcctagcccagatcttcaaagaaatttgtgatggtatcatctcttataaa
gattcttcccggcaagcactggcagctccacttttgaaccttcccccaaagaaaaagaat
gctgattattatgagaagatctctgatcccctagatcttatcaccatagagaagcagatc
ctcactggttactataagacagtggaagcttttgatgctgacatgctcaaagtctttcgg
aatgctgagaagtactatgggcgtaaatccccagttgggagagatgtttgtcgtctacga
aaggcctattacaatgcccggcatgaggcatcagcccagattgatgagattgtgggagag
acagcaagtgaggcagacagcagtgagacctcagtctctgaaaaggagaatgggcatgag
aaggacgacgatgttattcgctgtatctgtggcctctacaaggatgaaggtctcatgatc
cagtgtgacaagtgcatggtatggcagcactgtgattgtatgggagtgaactcagatgtg
gagcactacctttgtgagcagtgtgacccaaggcctgtggacagggaggttcccatgatc
cctcggccccactatgcccaacctggctgtgtctacttcatctgtttgctccgagatgac
ttgctgcttcgtcagggtgactgtgtgtatctgatgagggatagtcggcgcacccctgat
ggccacccggtccgtcagtcctatcgactgttatctcacattaaccgagataaacttgac
atctttcgcattgagaagctttggaagaatgaaaaagaggaacggtttgcctttggtcac
cattatttccgtccccacgaaacacaccactctccatcccgtcggttctatcataatgaa
ctatttcgggtgccactctatgagatcattcccttggaggctgtagtggggacctgctgt
gtgttggacctttatacgtattgtaaagggagacccaaaggagtaaaggagcaagatgtg
tacatctgtgattatcggcttgacaagtcagcacacctgttttacaagatccaccggaac
cgctatcctgtctgcaccaaaccctatgcttttgatcacttccccaagaagctcactccc
aaaaaagatttctcgcctcattacgtcccagacaactacaagaggaatggaggacgatca
tcctggaagtctgagcgctcaaagccacccctaaaagacttgggccaggaggatgatgct
ctacccttgattgaagaggttctagccagtcaagagcaagcagccaatgagatacccagc
ctggaggagccagaacgggaaggggccactgctaacgtcagtgagggtgaaaaaaaaaca
gaggaaagtagtcaagaaccccagtcaacctgtacccctgaggaacgacggcataaccaa
cgggaacgactcaaccagatcttgctcaatctccttgaaaaaatccctggaaaaaatgcc
attgatgtgacctacttgctggaggaaggatcaggcaggaaactgcgaaggcgtactttg
tttatcccagaaaacagctttcgaaagtga
DBGET
integrated database retrieval system
