KEGG   Homo sapiens (human): 7403
Entry
7403              CDS       T01001                                 
Symbol
KDM6A, KABUK2, UTX, bA386N14.2
Name
(RefSeq) lysine demethylase 6A
  KO
K11447  lysine-specific demethylase 6A [EC:1.14.11.68]
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00119  MLL-AF4 fusion to transcriptional activation
Disease
H00570  Kabuki syndrome
H01667  Medulloblastoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    7403 (KDM6A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    7403 (KDM6A)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.11  With 2-oxoglutarate as one donor, and incorporation of one atom of oxygen into each donor
    1.14.11.68  [histone H3]-trimethyl-L-lysine27 demethylase
     7403 (KDM6A)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HMT complexes
    MLL3/MLL4 complex
     7403 (KDM6A)
   Histone demethylases
    7403 (KDM6A)
SSDB
Motif
Pfam: KDM6_C-hel JmjC TPR_1 KDM6_GATAL TPR_2 TPR_8 TPR_16 TPR_17 TPR_12 TPR_19 TPR_7 TPR_9 TPR_11 SNAP TPR_15 ANAPC3
Other DBs
NCBI-GeneID: 7403
NCBI-ProteinID: NP_066963
OMIM: 300128
HGNC: 12637
Ensembl: ENSG00000147050
UniProt: O15550 Q59HG3
Structure
Position
X:44873188..45112779
AA seq 1401 aa
MKSCGVSLATAAAAAAAFGDEEKKMAAGKASGESEEASPSLTAEEREALGGLDSRLFGFV
RFHEDGARTKALLGKAVRCYESLILKAEGKVESDFFCQLGHFNLLLEDYPKALSAYQRYY
SLQSDYWKNAAFLYGLGLVYFHYNAFQWAIKAFQEVLYVDPSFCRAKEIHLRLGLMFKVN
TDYESSLKHFQLALVDCNPCTLSNAEIQFHIAHLYETQRKYHSAKEAYEQLLQTENLSAQ
VKATVLQQLGWMHHTVDLLGDKATKESYAIQYLQKSLEADPNSGQSWYFLGRCYSSIGKV
QDAFISYRQSIDKSEASADTWCSIGVLYQQQNQPMDALQAYICAVQLDHGHAAAWMDLGT
LYESCNQPQDAIKCYLNATRSKSCSNTSALAARIKYLQAQLCNLPQGSLQNKTKLLPSIE
EAWSLPIPAELTSRQGAMNTAQQNTSDNWSGGHAVSHPPVQQQAHSWCLTPQKLQHLEQL
RANRNNLNPAQKLMLEQLESQFVLMQQHQMRPTGVAQVRSTGIPNGPTADSSLPTNSVSG
QQPQLALTRVPSVSQPGVRPACPGQPLANGPFSAGHVPCSTSRTLGSTDTILIGNNHITG
SGSNGNVPYLQRNALTLPHNRTNLTSSAEEPWKNQLSNSTQGLHKGQSSHSAGPNGERPL
SSTGPSQHLQAAGSGIQNQNGHPTLPSNSVTQGAALNHLSSHTATSGGQQGITLTKESKP
SGNILTVPETSRHTGETPNSTASVEGLPNHVHQMTADAVCSPSHGDSKSPGLLSSDNPQL
SALLMGKANNNVGTGTCDKVNNIHPAVHTKTDNSVASSPSSAISTATPSPKSTEQTTTNS
VTSLNSPHSGLHTINGEGMEESQSPMKTDLLLVNHKPSPQIIPSMSVSIYPSSAEVLKAC
RNLGKNGLSNSSILLDKCPPPRPPSSPYPPLPKDKLNPPTPSIYLENKRDAFFPPLHQFC
TNPNNPVTVIRGLAGALKLDLGLFSTKTLVEANNEHMVEVRTQLLQPADENWDPTGTKKI
WHCESNRSHTTIAKYAQYQASSFQESLREENEKRSHHKDHSDSESTSSDNSGRRRKGPFK
TIKFGTNIDLSDDKKWKLQLHELTKLPAFVRVVSAGNLLSHVGHTILGMNTVQLYMKVPG
SRTPGHQENNNFCSVNINIGPGDCEWFVVPEGYWGVLNDFCEKNNLNFLMGSWWPNLEDL
YEANVPVYRFIQRPGDLVWINAGTVHWVQAIGWCNNIAWNVGPLTACQYKLAVERYEWNK
LQSVKSIVPMVHLSWNMARNIKVSDPKLFEMIKYCLLRTLKQCQTLREALIAAGKEIIWH
GRTKEEPAHYCSICEVEVFDLLFVTNESNSRKTYIVHCQDCARKTSGNLENFVVLEQYKM
EDLMQVYDQFTLAPPLPSASS
NT seq 4206 nt   +upstreamnt  +downstreamnt
atgaaatcctgcggagtgtcgctcgctaccgccgccgctgccgccgccgctttcggtgat
gaggaaaagaaaatggcggcgggaaaagcgagcggcgagagcgaggaggcgtcccccagc
ctgacagccgaggagagggaggcgctcggcggactggacagccgcctctttgggttcgtg
agatttcatgaagatggcgccaggacgaaggccctactgggcaaggctgttcgctgctat
gaatctctaatcttaaaagctgaaggaaaagtggagtctgatttcttttgtcaattaggt
cacttcaacctcttattggaagattatccaaaagcattatctgcataccagaggtactac
agtttacagtctgactactggaagaatgctgcctttttatatggtcttggtttggtctac
ttccattataatgcatttcagtgggcaattaaagcatttcaggaggtgctttatgttgat
cccagcttttgtcgagccaaggaaattcatttacgacttgggcttatgttcaaagtgaac
acagactatgagtctagtttaaagcattttcagttagctttggttgactgtaatccctgc
actttgtccaatgctgaaattcaatttcacattgcccacttatatgaaacccagaggaaa
tatcattctgcaaaagaagcttatgaacaacttttgcagacagagaatctttctgcacaa
gtaaaagcaactgtcttacaacagttaggttggatgcatcacactgtagatctcctggga
gataaagccaccaaggaaagctatgctattcagtatctccaaaagtccttggaagcagat
cctaattctggccagtcctggtatttcctcggaaggtgctattcaagtattgggaaagtt
caggatgcctttatatcttacaggcagtctattgataaatcagaagcaagtgcagataca
tggtgttcaataggtgtgctatatcagcagcaaaatcagcccatggatgctttacaggcc
tatatttgtgctgtacaattggaccatggccatgctgcagcctggatggacctaggcact
ctctatgaatcctgcaaccagcctcaggatgccattaaatgctacttaaatgcaactaga
agcaaaagttgtagtaatacctctgcacttgcagcacgaattaagtatttacaggctcag
ttgtgtaaccttccacaaggtagtctacagaataaaactaaattacttcctagtattgag
gaggcgtggagcctaccaattcccgcagagcttacctccaggcagggtgccatgaacaca
gcacagcagaatacttctgacaattggagtggtggacatgctgtgtcacatcctccagta
cagcaacaagctcattcatggtgtttgacaccacagaaattacagcatttggaacagctc
cgcgcaaatagaaataatttaaatccagcacagaaactgatgctggaacagctggaaagt
cagtttgtcttaatgcaacaacaccaaatgagaccaacaggagttgcacaggtacgatct
actggaattcctaatgggccaacagctgactcatcactgcctacaaactcagtctctggc
cagcagccacagcttgctctgaccagagtgcctagcgtctctcagcctggagtccgtcct
gcctgccctgggcagcctttggccaatggacccttttctgcaggccatgttccctgtagc
acatcaagaacgctgggaagtacagacactattttgataggcaataatcatataacagga
agtggaagtaatggaaacgtgccttacctgcagcgaaacgcactcactctacctcataac
cgcacaaacctgaccagcagcgcagaggagccgtggaaaaaccaactatctaactccact
caggggcttcacaaaggtcagagttcacattcggcaggtcctaatggtgaacgacctctc
tcttccactgggccttcccagcatctccaggcagctggctctggtattcagaatcagaac
ggacatcccaccctgcctagcaattcagtaacacagggggctgctctcaatcacctctcc
tctcacactgctacctcaggtggacaacaaggcattaccttaaccaaagagagcaagcct
tcaggaaacatattgacggtgcctgaaacaagcaggcacactggagagacacctaacagc
actgccagtgtcgagggacttcctaatcatgtccatcagatgacggcagatgctgtttgc
agtcctagccatggagattctaagtcaccaggtttactaagttcagacaatcctcagctc
tctgccttgttgatgggaaaagccaataacaatgtgggtactggaacctgtgacaaagtc
aataacatccacccagctgttcatacaaagactgataactctgttgcctcttcaccatct
tcagccatttcaacagcaacaccttctccaaaatccactgagcagacaaccacaaacagt
gttaccagccttaacagccctcacagtgggctacacacaattaatggagaagggatggaa
gaatctcagagccccatgaaaacagatctgcttctggttaaccacaaacctagtccacag
atcataccatcaatgtctgtgtccatataccccagctcagcagaagttctgaaggcatgc
aggaatctaggtaaaaatggcttatctaacagtagcattttgttggataaatgtccacct
ccaagaccaccatcttcaccataccctcccttgccaaaggacaagttgaatccacctaca
cctagtatttacttggaaaataaacgtgatgctttctttcctccattacatcaattttgt
acaaatccgaacaaccctgttacagtaatacgtggccttgctggagctcttaagttagac
ctgggacttttctctactaaaactttggtggaagctaacaatgaacatatggtagaagtg
aggacacagttgttgcagccagcagatgaaaactgggatcccactggaacaaagaaaatc
tggcattgtgaaagtaatagatctcatactacaattgctaaatatgcacagtaccaggcc
tcctcattccaggaatcattgagagaagaaaatgaaaaaagaagtcatcataaagaccac
tcagatagtgaatctacatcgtcagataattctgggaggaggaggaaaggaccctttaaa
accataaagtttgggaccaatattgacctatctgatgacaaaaagtggaagttgcagcta
catgagctgactaaacttcctgcttttgtgcgtgtcgtatcagcaggaaatcttctaagc
catgttggtcataccatattgggcatgaacacagttcaactatacatgaaagttccaggg
agcagaacaccaggtcatcaggaaaataacaacttctgttcagttaacataaatattggc
ccaggtgactgtgaatggtttgttgttcctgaaggttactggggtgttctgaatgacttc
tgtgaaaaaaataatttgaatttcctaatgggttcttggtggcccaatcttgaagatctt
tatgaagcaaatgttccagtgtataggtttattcagcgacctggagatttggtctggata
aatgcaggcactgttcattgggttcaggctattggctggtgcaacaacattgcttggaat
gttggtccacttacagcctgccagtataaattggcagtggaacggtacgaatggaacaaa
ttgcaaagtgtgaagtcaatagtacccatggttcatctttcctggaatatggcacgaaat
atcaaggtctcagatccaaagctttttgaaatgattaagtattgtcttctaagaactctg
aagcaatgtcagacattgagggaagctctcattgctgcaggaaaagagattatatggcat
gggcggacaaaagaagaaccagctcattactgtagcatttgtgaagtggaggtttttgat
ctgctttttgtcactaatgagagtaattcacgaaagacctacatagtacattgccaagat
tgtgcacgaaaaacaagcggaaacttggaaaactttgtggtgctagaacagtacaaaatg
gaggacctgatgcaagtctatgaccaatttacattagctcctccattaccatccgcctca
tcttga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (34)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (31)   
DNA sequence (82)   
   RefSeq(nuc) (34)   
   GenBank (24)   
   EMBL (24)   
3D Structure (4)   
   PDB (4)   
Protein domain (16)   
   Pfam (16)   
All databases (163)   

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