KEGG   Homo sapiens (human): 546
Entry
546               CDS       T01001                                 
Symbol
ATRX, JMS, MRX52, RAD54, RAD54L, XH2, XNP, ZNF-HX
Name
(RefSeq) ATRX chromatin remodeler
  KO
K10779  transcriptional regulator ATRX
Organism
hsa  Homo sapiens (human)
Disease
H00045  Pancreatic neuroendocrine tumor
H00228  Thalassemia
H01752  ATR-X syndrome
H02583  X-linked intellectual disability-hypotonic facies 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)
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-rel_dom ADD_ATRX Helicase_C
Other DBs
NCBI-GeneID: 546
NCBI-ProteinID: NP_000480
OMIM: 300032
HGNC: 886
Ensembl: ENSG00000085224
Pharos: P46100(Tbio)
UniProt: P46100 A4LAA3 B4DLW1
Structure
Position
X:complement(77504880..77786216)
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 (3)   
   KEGG BRITE (3)   
Disease (8)   
   KEGG DISEASE (4)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (38)   
   KEGG ORTHOLOGY (1)   
   RefGene (29)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
Protein sequence (15)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (66)   
   RefSeq(nuc) (12)   
   GenBank (27)   
   EMBL (27)   
3D Structure (12)   
   PDB (12)   
Protein domain (3)   
   Pfam (3)   
All databases (146)   

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