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
   Cys4 GATA-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
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

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (39)   
   KEGG ORTHOLOGY (1)   
   RefGene (29)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (25)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (21)   
DNA sequence (77)   
   RefSeq(nuc) (23)   
   GenBank (27)   
   EMBL (27)   
Protein domain (3)   
   Pfam (3)   
All databases (157)   

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