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Identification
HMDB Protein ID HMDBP07464
Secondary Accession Numbers
  • 13172
Name Transcriptional regulator ATRX
Synonyms
  1. ATP-dependent helicase ATRX
  2. X-linked helicase II
  3. X-linked nuclear protein
  4. XNP
  5. Znf-HX
Gene Name ATRX
Protein Type Unknown
Biological Properties
General Function Involved in nucleic acid binding
Specific Function Could be a global transcriptional regulator. Modifies gene expression by affecting chromatin. May be involved in brain development and facial morphogenesis.
Pathways Not Available
Reactions
Adenosine triphosphate + Water → ADP + Phosphate details
GO Classification
Biological Process
DNA repair
regulation of transcription, DNA-dependent
DNA methylation
DNA recombination
forebrain development
Cellular Component
nuclear heterochromatin
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
hydrolase activity
transition metal ion binding
zinc ion binding
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
adenyl ribonucleotide binding
atp binding
protein binding
nucleic acid binding
dna binding
nucleoside-triphosphatase activity
helicase activity
hydrolase activity, acting on acid anhydrides
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
pyrophosphatase activity
Molecular Function
metal ion binding
ATP binding
zinc ion binding
chromatin binding
DNA helicase activity
DNA binding
Cellular Location
  1. Nucleus
Gene Properties
Chromosome Location X
Locus Xq21.1
SNPs ATRX
Gene Sequence
>7479 bp
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
GTCGATAAGCTTTCTGGGAAAGAGCAGAGTTTTACTTCTTTGGAAGTTAGAAAAGTTGCT
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
Protein Properties
Number of Residues 2492
Molecular Weight 282583.585
Theoretical pI 6.586
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Transcriptional regulator ATRX
MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENS
KEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQS
LPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNH
FQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQCRWCAEGGNLICCDFCHNAFC
KKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACNSVFENLEQLLQQNKKKIKV
DSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPKEMIKKAKKLI
ETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM
DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPT
EEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQS
SVDHQGDGSSGTEQEVESSSVKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLPNSPI
KGADCQEVPQDKDGYKSCGLNPKLEKCGLGQENSDNEHLVENEVSLLLEESDLRRSPRVK
TTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDKRNSSDSAIDNPKPNKLPKSK
QSETVDQNSDSDEMLAILKGVSRMSHSSSSDTDINEIHTNHKTLYDLKTQAGKDDKGKRK
RKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKR
IPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTT
IMELRDRLPKKQQASASTDGVDKLSGKEQSFTSLEVRKVAETKEKSKHLKTKTCKKVQDG
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
GenBank ID Protein 6960326
UniProtKB/Swiss-Prot ID P46100
UniProtKB/Swiss-Prot Entry Name ATRX_HUMAN
PDB IDs
GenBank Gene ID U72937
GeneCard ID ATRX
GenAtlas ID ATRX
HGNC ID HGNC:886
References
General References
  1. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [PubMed:19608861 ]
  2. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [PubMed:18669648 ]
  3. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. [PubMed:19690332 ]
  4. Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP: Large-scale characterization of HeLa cell nuclear phosphoproteins. Proc Natl Acad Sci U S A. 2004 Aug 17;101(33):12130-5. Epub 2004 Aug 9. [PubMed:15302935 ]
  5. Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed:17081983 ]
  6. Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD: Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra. J Proteome Res. 2007 Nov;6(11):4150-62. Epub 2007 Oct 9. [PubMed:17924679 ]
  7. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309. [PubMed:19413330 ]
  8. Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science. 2007 May 25;316(5828):1160-6. [PubMed:17525332 ]
  9. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed:15772651 ]
  10. Molina H, Horn DM, Tang N, Mathivanan S, Pandey A: Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. Proc Natl Acad Sci U S A. 2007 Feb 13;104(7):2199-204. Epub 2007 Feb 7. [PubMed:17287340 ]
  11. Kitano T, Schwarz C, Nickel B, Paabo S: Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. Mol Biol Evol. 2003 Aug;20(8):1281-9. Epub 2003 May 30. [PubMed:12777533 ]
  12. Picketts DJ, Higgs DR, Bachoo S, Blake DJ, Quarrell OW, Gibbons RJ: ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Hum Mol Genet. 1996 Dec;5(12):1899-907. [PubMed:8968741 ]
  13. Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontes M: Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. Genomics. 1997 Jul 15;43(2):149-55. [PubMed:9244431 ]
  14. Stayton CL, Dabovic B, Gulisano M, Gecz J, Broccoli V, Giovanazzi S, Bossolasco M, Monaco L, Rastan S, Boncinelli E, et al.: Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. Hum Mol Genet. 1994 Nov;3(11):1957-64. [PubMed:7874112 ]
  15. Gecz J, Pollard H, Consalez G, Villard L, Stayton C, Millasseau P, Khrestchatisky M, Fontes M: Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. Hum Mol Genet. 1994 Jan;3(1):39-44. [PubMed:8162050 ]
  16. Gibbons RJ, Picketts DJ, Villard L, Higgs DR: Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell. 1995 Mar 24;80(6):837-45. [PubMed:7697714 ]
  17. Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontes M, Colleaux L: Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. Hum Mol Genet. 1998 Apr;7(4):679-84. [PubMed:9499421 ]
  18. McDowell TL, Gibbons RJ, Sutherland H, O'Rourke DM, Bickmore WA, Pombo A, Turley H, Gatter K, Picketts DJ, Buckle VJ, Chapman L, Rhodes D, Higgs DR: Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc Natl Acad Sci U S A. 1999 Nov 23;96(24):13983-8. [PubMed:10570185 ]
  19. Villard L, Fontes M, Ades LC, Gecz J: Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. Am J Med Genet. 2000 Mar 6;91(1):83-5. [PubMed:10751095 ]
  20. Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub H, Langford C, Boultwood J, Wainscoat JS, Higgs DR: Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). Nat Genet. 2003 Aug;34(4):446-9. [PubMed:12858175 ]
  21. Lechner MS, Schultz DC, Negorev D, Maul GG, Rauscher FJ 3rd: The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Biochem Biophys Res Commun. 2005 Jun 17;331(4):929-37. [PubMed:15882967 ]
  22. Argentaro A, Yang JC, Chapman L, Kowalczyk MS, Gibbons RJ, Higgs DR, Neuhaus D, Rhodes D: Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX. Proc Natl Acad Sci U S A. 2007 Jul 17;104(29):11939-44. Epub 2007 Jul 3. [PubMed:17609377 ]
  23. Villard L, Lacombe D, Fontes M: A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. Eur J Hum Genet. 1996;4(6):316-20. [PubMed:9043863 ]
  24. Villard L, Gecz J, Mattei JF, Fontes M, Saugier-Veber P, Munnich A, Lyonnet S: XNP mutation in a large family with Juberg-Marsidi syndrome. Nat Genet. 1996 Apr;12(4):359-60. [PubMed:8630485 ]
  25. Gibbons RJ, Bachoo S, Picketts DJ, Aftimos S, Asenbauer B, Bergoffen J, Berry SA, Dahl N, Fryer A, Keppler K, Kurosawa K, Levin ML, Masuno M, Neri G, Pierpont ME, Slaney SF, Higgs DR: Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet. 1997 Oct;17(2):146-8. [PubMed:9326931 ]
  26. Fichera M, Romano C, Castiglia L, Failla P, Ruberto C, Amata S, Greco D, Cardoso C, Fontes M, Ragusa A: New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online. Hum Mutat. 1998;12(3):214. [PubMed:10660327 ]
  27. Lossi AM, Millan JM, Villard L, Orellana C, Cardoso C, Prieto F, Fontes M, Martinez F: Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. Am J Hum Genet. 1999 Aug;65(2):558-62. [PubMed:10417298 ]
  28. Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontes M, Curtis M: Carpenter-Waziri syndrome results from a mutation in XNP. Am J Med Genet. 1999 Jul 30;85(3):249-51. [PubMed:10398237 ]
  29. Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontes M: Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. J Med Genet. 1999 Mar;36(3):183-6. [PubMed:10204841 ]
  30. Wada T, Kubota T, Fukushima Y, Saitoh S: Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet. 2000 Sep 18;94(3):242-8. [PubMed:10995512 ]
  31. Stevenson RE, Abidi F, Schwartz CE, Lubs HA, Holmes LB: Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. Am J Med Genet. 2000 Oct 23;94(5):383-5. [PubMed:11050622 ]
  32. Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, van Roosmalen T, Jacobs A, Obbema H, Brunner HG, Hamel BC, van Bokhoven H: Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am J Med Genet. 2002 Jul 1;110(3):243-7. [PubMed:12116232 ]
  33. Leahy RT, Philip RK, Gibbons RJ, Fisher C, Suri M, Reardon W: Asplenia in ATR-X syndrome: a second report. Am J Med Genet A. 2005 Nov 15;139(1):37-9. [PubMed:16222662 ]
  34. Wieland I, Sabathil J, Ostendorf A, Rittinger O, Ropke A, Winnepenninckx B, Kooy F, Holinski-Feder E, Wieacker P: A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation. Neurogenetics. 2005 Feb;6(1):45-7. [PubMed:15565397 ]
  35. Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P: ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. Am J Med Genet A. 2006 Oct 15;140(20):2212-5. [PubMed:16955409 ]