KEGG   Homo sapiens (human): 546
Entry
546               CDS       T01001                                 

Gene name
ATRX, JMS, MRX52, RAD54, RAD54L, XH2, XNP, ZNF-HX
Definition
(RefSeq) ATRX chromatin remodeler
  KO
K10779  transcriptional regulator ATRX [EC:3.6.4.12]
Organism
hsa  Homo sapiens (human)
Disease
H00045  Pancreatic neuroendocrine tumor
H00228  Thalassemia
H01752  ATR-X syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    546 (ATRX)
   03036 Chromosome and associated proteins [BR:hsa03036]
    546 (ATRX)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.4  Acting on acid anhydrides to facilitate cellular and subcellular movement
    3.6.4.12  DNA helicase
     546 (ATRX)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   Other Cys4 zinc finger factors
    546 (ATRX)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Heterochromatin formation proteins
   Other heterochromatin formation proteins
    546 (ATRX)
SSDB
Motif
Pfam: SNF2_N ADD_ATRX Helicase_C
Other DBs
NCBI-GeneID: 546
NCBI-ProteinID: NP_000480
OMIM: 300032
HGNC: 886
Ensembl: ENSG00000085224
Vega: OTTHUMG00000022686
Pharos: P46100(Tbio)
UniProt: P46100 B4DLW1 A4LAA3
LinkDB
Structure
PDB: 

Position
Xq21.1
AA seq 2492 aa
MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENS
KEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQS
LPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNH
FQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQCRWCAEGGNLICCDFCHNAFC
KKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACNSVFENLEQLLQQNKKKIKV
DSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPKEMIKKAKKLI
ETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM
DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPT
EEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQS
SVDHQGDGSSGTEQEVESSSVKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLSNSPI
KGADCQEVPQDKDGYKSCGLNPKLEKCGLGQENSDNEHLVENEVSLLLEESDLRRSPRVK
TTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDKRNSSDSAIDNPKPNKLPKSK
QSETVDQNSDSDEMLAILKEVSRMSHSSSSDTDINEIHTNHKTLYDLKTQAGKDDKGKRK
RKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKR
IPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTT
IMELRDRLPKKQQASASTDGVDKLSGKEESFTSLEVRKVAETKEKSKHLKTKTCKKVQDG
LSDIAEKFLKKDQSDETSEDDKKQSKKGTEEKKKPSDFKKKVIKMEQQYESSSDGTEKLP
EREEICHFPKGIKQIKNGTTDGEKKSKKIRDKTSKKKDELSDYAEKSTGKGDSCDSSEDK
KSKNGAYGREKKRCKLLGKSSRKRQDCSSSDTEKYSMKEDGCNSSDKRLKRIELRERRNL
SSKRNTKEIQSGSSSSDAEESSEDNKKKKQRTSSKKKAVIVKEKKRNSLRTSTKRKQADI
TSSSSSDIEDDDQNSIGEGSSDEQKIKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDD
DDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQV
NSESDSDSEESKKPRYRHRLLRHKLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSE
DSDFQESGVSEEVSESEDEQRPRTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKS
NSEEEEEEKEEEEEEEEEEEEEEEDENDDSKSPGKGRKKIRKILKDDKLRTETQNALKEE
EERRKRIAEREREREKLREVIEIEDASPTKCPITTKLVLDEDEETKEPLVQVHRNMVIKL
KPHQVDGVQFMWDCCCESVKKTKKSPGSGCILAHCMGLGKTLQVVSFLHTVLLCDKLDFS
TALVVCPLNTALNWMNEFEKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMI
IGYEMYRNLAQGRNVKSRKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRS
RRRIILTGTPLQNNLIEYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVM
KKRAHILYEMLAGCVQRKDYTALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNN
SEGGRGKAGAKLFQDFQMLSRIWTHPWCLQLDYISKENKGYFDEDSMDEFIASDSDETSM
SLSSDDYTKKKKKGKKGKKDSSSSGSGSDNDVEVIKVWNSRSRGGGEGNVDETGNNPSVS
LKLEESKATSSSNPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMAEEIGDKVLVF
SQSLISLDLIEDFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAE
EFNDETNVRGRLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPV
YVYRFLAQGTMEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNS
EKKKKRDTPMLPKDTILAELLQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEA
EKKGLTMRFNIPTGTNLPPVSFNSQTPYIPFNLGALSAMSNQQLEDLINQGREKVVEATN
SVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQELDVKRREAIYNDVLTKQQM
LISCVQRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSNYQQIDMRGMY
QPVAGGMQPPPLQRAPPPMRSKNPGPSQGKSM
NT seq 7479 nt   +upstreamnt  +downstreamnt
atgaccgctgagcccatgagtgaaagcaagttgaatacattggtgcagaagcttcatgac
ttccttgcacactcatcagaagaatctgaagaaacaagttctcctccacgacttgcaatg
aatcaaaacacagataaaatcagtggttctggaagtaactctgatatgatggaaaacagc
aaggaagagggaactagctcttcagaaaaatccaagtcttcaggatcgtcacgatcaaag
aggaaaccttcaattgtaacaaagtatgtagaatcagatgatgaaaaacctttggatgat
gaaactgtaaatgaagatgcgtctaatgaaaattcagaaaatgatattactatgcagagc
ttgccaaaaggtacagtgattgtacagccagagccagtgctgaatgaagacaaagatgat
tttaaagggcctgaatttagaagcagaagtaaaatgaaaactgaaaatctcaaaaaacgc
ggagaagatgggcttcatgggattgtgagctgcactgcttgtggacaacaggtcaatcat
tttcaaaaagattccatttatagacacccttcattgcaagttcttatttgtaagaattgc
tttaagtattacatgagtgatgatattagccgtgactcagatggaatggatgaacaatgt
aggtggtgtgcggaaggtggaaacttgatttgttgtgacttttgccataatgctttctgc
aagaaatgcattctacgcaaccttggtcgaaaggagttgtccacaataatggatgaaaac
aaccaatggtattgctacatttgtcacccagagcctttgttggacttggtcactgcatgt
aacagcgtatttgagaatttagaacagttgttgcagcaaaataagaagaagataaaagtt
gacagtgaaaagagtaataaagtatatgaacatacatccagattttctccaaagaagact
agttcaaattgtaatggagaagaaaagaaattagatgattcctgttctggctctgtaacc
tactcttattccgcactaattgtgcccaaagagatgattaagaaggcaaaaaaactgatt
gagaccacagccaacatgaactccagttatgttaaatttttaaagcaggcaacagataat
tcagaaatcagttctgctacaaaattacgtcagcttaaggcttttaagtctgtgttggct
gatattaagaaggctcatcttgcattggaagaagacttaaattccgagtttcgagcgatg
gatgctgtaaacaaagagaaaaataccaaagagcataaagtcatagatgctaagtttgaa
acaaaagcacgaaaaggagaaaaaccttgtgctttggaaaagaaggatatttcaaagtca
gaagctaaactttcaagaaaacaggtagatagtgagcacatgcatcagaatgttccaaca
gaggaacaaagaacaaataaaagtaccggtggtgaacataagaaatctgatagaaaagaa
gaacctcaatatgaacctgccaacacttctgaagatttagacatggatattgtgtctgtt
ccttcctcagttccagaagacatttttgagaatcttgagactgctatggaagttcagagt
tcagttgatcatcaaggggatggcagcagtggaactgaacaagaagtggagagttcatct
gtaaaattaaatatttcttcaaaagacaacagaggaggtattaaatcaaaaactacagct
aaagtaacaaaagaattatatgttaaactcactcctgtttccctttctaattccccaatt
aaaggtgctgattgtcaggaagttccacaagataaagatggctataaaagttgtggtctg
aaccccaagttagagaaatgtggacttggacaggaaaacagtgataatgagcatttggtt
gaaaatgaagtttcattacttttagaggaatctgatcttcgaagatccccacgtgtaaag
actacacccttgaggcgaccgacagaaactaaccctgtaacatctaattcagatgaagaa
tgtaatgaaacagttaaggagaaacaaaaactatcagttccagtgagaaaaaaggataag
cgtaattcttctgacagtgctatagataatcctaagcctaataaattgccaaaatctaag
caatcagagactgtggatcaaaattcagattctgatgaaatgctagcaatcctcaaagag
gtgagcaggatgagtcacagttcttcttcagatactgatattaatgaaattcatacaaac
cataagactttgtatgatttaaagactcaggcggggaaagatgataaaggaaaaaggaaa
cgaaaaagttctacatctggctcagattttgatactaaaaagggcaaatcagctaagagc
tctataatttctaaaaagaaacgacaaacccagtctgagtcttctaattatgactcagaa
ttagaaaaagagataaagagcatgagtaaaattggtgctgccagaaccaccaaaaaaaga
attccaaatacaaaagattttgactcttctgaagatgagaaacacagcaaaaaaggaatg
gataatcaagggcacaaaaatttgaagacctcacaagaaggatcatctgatgatgctgaa
agaaaacaagagagagagactttctcttcagcagaaggcacagttgataaagacacgacc
atcatggaattaagagatcgacttcctaagaagcagcaagcaagtgcttccactgatggt
gtcgataagctttctgggaaagaggagagttttacttctttggaagttagaaaagttgct
gaaactaaagaaaagagcaagcatctcaaaaccaaaacatgtaaaaaagtacaggatggc
ttatctgatattgcagagaaattcctaaagaaagaccagagcgatgaaacttctgaagat
gataaaaagcagagcaaaaagggaactgaagaaaaaaagaaaccttcagactttaagaaa
aaagtaattaaaatggaacaacagtatgaatcttcatctgatggcactgaaaagttacct
gagcgagaagaaatttgtcattttcctaagggcataaaacaaattaagaatggaacaact
gatggagaaaagaaaagtaaaaaaataagagataaaacttctaaaaagaaggatgaatta
tctgattatgctgagaagtcaacagggaaaggagatagttgtgactcttcagaggataaa
aagagtaagaatggagcatatggtagagagaagaaaaggtgcaagttgcttggaaagagt
tcaaggaagagacaagattgttcatcatctgatactgagaaatattccatgaaagaagat
ggttgtaactcttctgataagagactgaaaagaatagaattgagggaaagaagaaattta
agttcaaagagaaatactaaggaaatacaaagtggctcatcatcatctgatgctgaggaa
agttctgaagataataaaaagaagaagcaaagaacttcatctaaaaagaaggcagtcatt
gtcaaggagaaaaagagaaactccctaagaacaagcactaaaaggaagcaagctgacatt
acatcctcatcttcttctgatatagaagatgatgatcagaattctataggtgagggaagc
agcgatgaacagaaaattaagcctgtgactgaaaatttagtgctgtcttcacatactgga
ttttgccaatcttcaggagatgaagccttatctaaatcagtgcctgtcacagtggatgat
gatgatgacgacaatgatcctgagaatagaattgccaagaagatgcttttagaagaaatt
aaagccaatctttcctctgatgaggatggatcttcagatgatgagccagaagaagggaaa
aaaagaactggaaaacaaaatgaagaaaacccaggagatgaggaagcaaaaaatcaagtc
aattctgaatcagattcagattctgaagaatctaagaagccaagatacagacataggctt
ttgcggcacaaattgactgtgagtgacggagaatctggagaagaaaaaaagacaaagcct
aaagagcataaagaagtcaaaggcagaaacagaagaaaggtgagcagtgaagattcagaa
gattctgattttcaggaatcaggagttagtgaagaagttagtgaatccgaagatgaacag
cggcccagaacaaggtctgcaaagaaagcagagttggaagaaaatcagcggagctataaa
cagaaaaagaaaaggcgacgtattaaggttcaagaagattcatccagtgaaaacaagagt
aattctgaggaagaagaggaggaaaaagaagaggaggaggaagaggaggaggaggaggaa
gaggaggaggaagatgaaaatgatgattccaagtctcctggaaaaggcagaaagaaaatt
cggaagattcttaaagatgataaactgagaacagaaacacaaaatgctcttaaggaagag
gaagagagacgaaaacgtattgctgagagggagcgtgagcgagaaaaattgagagaggtg
atagaaattgaagatgcttcacccaccaagtgtccaataacaaccaagttggttttagat
gaagatgaagaaaccaaagaacctttagtgcaggttcatagaaatatggttatcaaattg
aaaccccatcaagtagatggtgttcagtttatgtgggattgctgctgtgagtctgtgaaa
aaaacaaagaaatctccaggttcaggatgcattcttgcccactgtatgggccttggtaag
actttacaggtggtaagttttcttcatacagttcttttgtgtgacaaactggatttcagc
acggcgttagtggtttgtcctcttaatactgctttgaattggatgaatgaatttgagaag
tggcaagagggattaaaagatgatgagaagcttgaggtttctgaattagcaactgtgaaa
cgtcctcaggagagaagctacatgctgcagaggtggcaagaagatggtggtgttatgatc
ataggctatgagatgtatagaaatcttgctcaaggaaggaatgtgaagagtcggaaactt
aaagaaatatttaacaaagctttggttgatccaggccctgattttgttgtttgtgatgaa
ggccatattctaaaaaatgaagcatctgctgtttctaaagctatgaattctatacgatca
aggaggaggattattttaacaggaacaccacttcaaaataacctaattgagtatcattgt
atggttaattttatcaaggaaaatttacttggatccattaaggagttcaggaatagattt
ataaatccaattcaaaatggtcagtgtgcagattctaccatggtagatgtcagagtgatg
aaaaaacgtgctcacattctctatgagatgttagctggatgtgttcagaggaaagattat
acagcattaacaaaattcttgcctccaaaacacgaatatgtgttagctgtgagaatgact
tctattcagtgcaagctctatcagtactacttagatcacttaacaggtgtgggcaataat
agtgaaggtggaagaggaaaggcaggtgcaaagcttttccaagattttcagatgttaagt
agaatatggactcatccttggtgtttgcagctagactacattagcaaagaaaataagggt
tattttgatgaagacagtatggatgaatttatagcctcagattctgatgaaacctccatg
agtttaagctccgatgattatacaaaaaagaagaaaaaagggaaaaaggggaaaaaagat
agtagctcaagtggaagtggcagtgacaatgatgttgaagtgattaaggtctggaattca
agatctcggggaggtggtgaaggaaatgtggatgaaacaggaaacaatccttctgtttct
ttaaaactggaagaaagtaaagctacttcttcttctaatccaagcagcccagctccagac
tggtacaaagattttgttacagatgctgatgctgaggttttagagcattctgggaaaatg
gtacttctctttgaaattcttcgaatggcagaggaaattggggataaagtccttgttttc
agccagtccctcatatctctggacttgattgaagattttcttgaattagctagtagggag
aagacagaagataaagataaaccccttatttataaaggtgaggggaagtggcttcgaaac
attgactattaccgtttagatggttccactactgcacagtcaaggaagaagtgggctgaa
gaatttaatgatgaaactaatgtgagaggacgattatttatcatttctactaaagcagga
tctctaggaattaatctggtagctgctaatcgagtaattatattcgacgcttcttggaat
ccatcttatgacatccagagtatattcagagtttatcgctttggacaaactaagcctgtt
tatgtatataggttcttagctcagggaaccatggaagataagatttatgatcggcaagta
actaagcagtcactgtcttttcgagttgttgatcagcagcaggtggagcgtcattttact
atgaatgagcttactgaactttatacttttgagccagacttattagatgaccctaattca
gaaaagaagaagaagagggatactcccatgctgccaaaggataccatacttgcagagctc
cttcagatacataaagaacacattgtaggataccatgaacatgattctcttttggaccac
aaagaagaagaagagttgactgaagaagaaagaaaagcagcttgggctgagtatgaagca
gagaagaagggactgaccatgcgtttcaacataccaactgggaccaatttaccccctgtc
agtttcaactctcaaactccttatattcctttcaatttgggagccctgtcagcaatgagt
aatcaacagctggaggacctcattaatcaaggaagagaaaaagttgtagaagcaacaaac
agtgtgacagcagtgaggattcaacctcttgaggatataatttcagctgtatggaaggag
aacatgaatctctcagaggcccaagtacaggcgttagcattaagtagacaagccagccag
gagcttgatgttaaacgaagagaagcaatctacaatgatgtattgacaaaacaacagatg
ttaatcagctgtgttcagcgaatacttatgaacagaaggctccagcagcagtacaatcag
cagcaacagcaacaaatgacttatcaacaagcaacactgggtcacctcatgatgccaaag
cccccaaatttgatcatgaatccttctaactaccagcagattgatatgagaggaatgtat
cagccagtggctggtggtatgcagccaccaccattacagcgtgcaccacccccaatgaga
agcaaaaatccaggaccttcccaagggaaatcaatgtga

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