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

Gene name
ATRX, ATR2, JMS, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX
Definition
alpha thalassemia/mental retardation syndrome X-linked (EC:3.6.4.12)
Orthology
K10779  
transcriptional regulator ATRX [EC:3.6.4.12]
Organism
hsa  Homo sapiens (human)
Disease
H00228  
Thalassemia
H00480  
Non-syndromic X-linked mental retardation
H00577  
Syndromic X-linked mental retardation with epilepsy or seizures
H00607  
46,XY disorders of sex development (Disorders of gonadal development)
Brite
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
Xq21.1
AA seq 2492 aa AA seqDB search
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 NT seq  +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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