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ATRX (NM_000489) Human Tagged ORF Clone
CAT#: RC215176
- TrueORF®
ATRX (Myc-DDK-tagged)-Human alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1
"NM_000489" in other vectors (2)
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Frequently bought together (3)
Other products for "ATRX"
Specifications
| Product Data | |
| Type | Human Tagged ORF Clone |
| Tag | Myc-DDK |
| Symbol | ATRX |
| Synonyms | JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX |
| Vector | pCMV6-Entry |
| E. coli Selection | Kanamycin (25 ug/mL) |
| Mammalian Cell Selection | Neomycin |
| Sequence Data |
>RC215176 representing NM_000489
Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGACCGCTGAGCCCATGAGTGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCAC ACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAGATAAAAT CAGTGGTTCTGGAAGTAACTCTGATATGATGGAAAACAGCAAGGAAGAGGGAACTAGCTCTTCAGAAAAA TCCAAGTCTTCAGGATCGTCACGATCAAAGAGGAAACCTTCAATTGTAACAAAGTATGTAGAATCAGATG ATGAAAAACCTTTGGATGATGAAACTGTAAATGAAGATGCGTCTAATGAAAATTCAGAAAATGATATTAC TATGCAGAGCTTGCCAAAAGGTACAGTGATTGTACAGCCAGAGCCAGTGCTGAATGAAGACAAAGATGAT TTTAAAGGGCCTGAATTTAGAAGCAGAAGTAAAATGAAAACTGAAAATCTCAAAAAACGCGGAGAAGATG GGCTTCATGGGATTGTGAGCTGCACTGCTTGTGGACAACAGGTCAATCATTTTCAAAAAGATTCCATTTA TAGACACCCTTCATTGCAAGTTCTTATTTGTAAGAATTGCTTTAAGTATTACATGAGTGATGATATTAGC CGTGACTCAGATGGAATGGATGAACAATGTAGGTGGTGTGCGGAAGGTGGAAACTTGATTTGTTGTGACT TTTGCCATAATGCTTTCTGCAAGAAATGCATTCTACGCAACCTTGGTCGAAAGGAGTTGTCCACAATAAT GGATGAAAACAACCAATGGTATTGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGT AACAGCGTATTTGAGAATTTAGAACAGTTGTTGCAGCAAAATAAGAAGAAGATAAAAGTTGACAGTGAAA AGAGTAATAAAGTATATGAACATACATCCAGATTTTCTCCAAAGAAGACTAGTTCAAATTGTAATGGAGA AGAAAAGAAATTAGATGATTCCTGTTCTGGCTCTGTAACCTACTCTTATTCCGCACTAATTGTGCCCAAA GAGATGATTAAGAAGGCAAAAAAACTGATTGAGACCACAGCCAACATGAACTCCAGTTATGTTAAATTTT TAAAGCAGGCAACAGATAATTCAGAAATCAGTTCTGCTACAAAATTACGTCAGCTTAAGGCTTTTAAGTC TGTGTTGGCTGATATTAAGAAGGCTCATCTTGCATTGGAAGAAGACTTAAATTCCGAGTTTCGAGCGATG GATGCTGTAAACAAAGAGAAAAATACCAAAGAGCATAAAGTCATAGATGCTAAGTTTGAAACAAAAGCAC GAAAAGGAGAAAAACCTTGTGCTTTGGAAAAGAAGGATATTTCAAAGTCAGAAGCTAAACTTTCAAGAAA ACAGGTAGATAGTGAGCACATGCATCAGAATGTTCCAACAGAGGAACAAAGAACAAATAAAAGTACCGGT GGTGAACATAAGAAATCTGATAGAAAAGAAGAACCTCAATATGAACCTGCCAACACTTCTGAAGATTTAG ACATGGATATTGTGTCTGTTCCTTCCTCAGTTCCAGAAGACATTTTTGAGAATCTTGAGACTGCTATGGA AGTTCAGAGTTCAGTTGATCATCAAGGGGATGGCAGCAGTGGAACTGAACAAGAAGTGGAGAGTTCATCT GTAAAATTAAATATTTCTTCAAAAGACAACAGAGGAGGTATTAAATCAAAAACTACAGCTAAAGTAACAA AAGAATTATATGTTAAACTCACTCCTGTTTCCCTTTCTAATTCCCCAATTAAAGGTGCTGATTGTCAGGA AGTTCCACAAGATAAAGATGGCTATAAAAGTTGTGGTCTGAACCCCAAGTTAGAGAAATGTGGACTTGGA CAGGAAAACAGTGATAATGAGCATTTGGTTGAAAATGAAGTTTCATTACTTTTAGAGGAATCTGATCTTC GAAGATCCCCACGTGTAAAGACTACACCCTTGAGGCGACCGACAGAAACTAACCCTGTAACATCTAATTC AGATGAAGAATGTAATGAAACAGTTAAGGAGAAACAAAAACTATCAGTTCCAGTGAGAAAAAAGGATAAG CGTAATTCTTCTGACAGTGCTATAGATAATCCTAAGCCTAATAAATTGCCAAAATCTAAGCAATCAGAGA CTGTGGATCAAAATTCAGATTCTGATGAAATGCTAGCAATCCTCAAAGAGGTGAGCAGGATGAGTCACAG TTCTTCTTCAGATACTGATATTAATGAAATTCATACAAACCATAAGACTTTGTATGATTTAAAGACTCAG GCGGGGAAAGATGATAAAGGAAAAAGGAAACAAAAAAGTTCTACATCTGGCTCAGATTTTGATACTAAAA AGGGCAAATCAGCTAAGAGCTCTATAATTTCTAAAAAGAAACGACAAACCCAGTCTGAGTCTTCTAATTA TGACTCAGAATTAGAAAAAGAGATAAAGAGCATGAGTAAAATTGGTGCTGCCAGAACCACCAAAAAAAGA ATTCCAAATACAAAAGATTTTGACTCTTCTGAAGATGAGAAACACAGCAAAAAAGGAATGGATAATCAAG GGCACAAAAATTTGAAGACCTCACAAGAAGGATCATCTGATGATGCTGAAAGAAAACAAGAGAGAGAGAC TTTCTCTTCAGCAGAAGGCACAGTTGATAAAGACACGACCATCATGGAATTAAGAGATCGACTTCCTAAG AAGCAGCAAGCAAGTGCTTCCACTGATGGTGTCGATAAGCTTTCTGGGAAAGAGGAGAGTTTTACTTCTT TGGAAGTTAGAAAAGTTGCTGAAACTAAAGAAAAGAGCAAGCATCTCAAAACCAAAACATGTAAAAAAGT ACAGGATGGCTTATCTGATATTGCAGAGAAATTCCTAAAGAAAGACCAGAGCGATGAAACTTCTGAAGAT GATAAAAAGCAGAGCAAAAAGGGAACTGAAGAAAAAAAGAAACCTTCAGACTTTAAGAAAAAAGTAATTA AAATGGAACAACAGTATGAATCTTCATCTGATGGCACTGAAAAGTTACCTGAGCGAGAAGAAATTTGTCA TTTTCCTAAGGGCATAAAACAAATTAAGAATGGAACAACTGATGGAGAAAAGAAAAGTAAAAAAATAAGA GATAAAACTTCTAAAAAGAAGGATGAATTATCTGATTATGCTGAGAAGTCAACAGGGAAAGGAGATAGTT GTGACTCTTCAGAGGATAAAAAGAGTAAGAATGGAGCATATGGTAGAGAGAAGAAAAGGTGCAAGTTGCT TGGAAAGAGTTCAAGGAAGAGACAAGATTGTTCATCATCTGATACTGAGAAATATTCCATGAAAGAAGAT GGTTGTAACTCTTCTGATAAGAGACTGAAAAGAATAGAATTGAGGGAAAGAAGAAATTTAAGTTCAAAGA GAAATACTAAGGAAATACAAAGTGGCTCATCATCATCTGATGCTGAGGAAAGTTCTGAAGATAATAAAAA GAAGAAGCAAAGAACTTCATCTAAAAAGAAGGCAGTCATTGTCAAGGAGAAAAAGAGAAACTCCCTAAGA ACAAGCACTAAAAGGAAGCAAGCTGACATTACATCCTCATCTTCTTCTGATATAGAAGATGATGATCAGA ATTCTATAGGTGAGGGAAGCAGCGATGAACAGAAAATTAAGCCTGTGACTGAAAATTTAGTGCTGTCTTC ACATACTGGATTTTGCCAATCTTCAGGAGATGAAGCCTTATCTAAATCAGTGCCTGTCACAGTGGATGAT GATGATGACGACAATGATCCTGAGAATAGAATTGCCAAGAAGATGCTTTTAGAAGAAATTAAAGCCAATC TTTCCTCTGATGAGGATGGATCTTCAGATGATGAGCCAGAAGAAGGGAAAAAAAGAACTGGAAAACAAAA TGAAGAAAACCCAGGAGATGAGGAAGCAAAAAATCAAGTCAATTCTGAATCAGATTCAGATTCTGAAGAA TCTAAGAAGCCAAGATACAGACATAGGCTTTTGCGGCACAAATTGACTGTGAGTGACGGAGAATCTGGAG AAGAAAAAAAGACAAAGCCTAAAGAGCATAAAGAAGTCAAAGGCAGAAACAGAAGAAAGGTGAGCAGTGA AGATTCAGAAGATTCTGATTTTCAGGAATCAGGAGTTAGTGAAGAAGTTAGTGAATCCGAAGATGAACAG CGGCCCAGAACAAGGTCTGCAAAGAAAGCAGAGTTGGAAGAAAATCAGCGGAGCTATAAACAGAAAAAGA AAAGGCGACGTATTAAGGTTCAAGAAGATTCATCCAGTGAAAACAAGAGTAATTCTGAGGAAGAAGAGGA GGAAAAAGAAGAGGAGGAGGAAGAGGAGGAGGAGGAGGAAGAGGAGGAGGAAGATGAAAATGATGATTCC AAGTCTCCTGGAAAAGGCAGAAAGAAAATTCGGAAGATTCTTAAAGATGATAAACTGAGAACAGAAACAC AAAATGCTCTTAAGGAAGAGGAAGAGAGACGAAAACGTATTGCTGAGAGGGAGCGTGAGCGAGAAAAATT GAGAGAGGTGATAGAAATTGAAGATGCTTCACCCACCAAGTGTCCAATAACAACCAAGTTGGTTTTAGAT GAAGATGAAGAAACCAAAGAACCTTTAGTGCAGGTTCATAGAAATATGGTTATCAAATTGAAACCCCATC AAGTAGATGGTGTTCAGTTTATGTGGGATTGCTGCTGTGAGTCTGTGAAAAAAACAAAGAAATCTCCAGG TTCAGGATGCATTCTTGCCCACTGTATGGGCCTTGGTAAGACTTTACAGGTGGTAAGTTTTCTTCATACA GTTCTTTTGTGTGACAAACTGGATTTCAGCACGGCGTTAGTGGTTTGTCCTCTTAATACTGCTTTGAATT GGATGAATGAATTTGAGAAGTGGCAAGAGGGATTAAAAGATGATGAGAAGCTTGAGGTTTCTGAATTAGC AACTGTGAAACGTCCTCAGGAGAGAAGCTACATGCTGCAGAGGTGGCAAGAAGATGGTGGTGTTATGATC ATAGGCTATGAGATGTATAGAAATCTTGCTCAAGGAAGGAATGTGAAGAGTCGGAAACTTAAAGAAATAT TTAACAAAGCTTTGGTTGATCCAGGCCCTGATTTTGTTGTTTGTGATGAAGGCCATATTCTAAAAAATGA AGCATCTGCTGTTTCTAAAGCTATGAATTCTATACGATCAAGGAGGAGGATTATTTTAACAGGAACACCA CTTCAAAATAACCTAATTGAGTATCATTGTATGGTTAATTTTATCAAGGAAAATTTACTTGGATCCATTA AGGAGTTCAGGAATAGATTTATAAATCCAATTCAAAATGGTCAGTGTGCAGATTCTACCATGGTAGATGT CAGAGTGATGAAAAAACGTGCTCACATTCTCTATGAGATGTTAGCTGGATGTGTTCAGAGGAAAGATTAT ACAGCATTAACAAAATTCTTGCCTCCAAAACACGAATATGTGTTAGCTGTGAGAATGACTTCTATTCAGT GCAAGCTCTATCAGTACTACTTAGATCACTTAACAGGTGTGGGCAATAATAGTGAAGGTGGAAGAGGAAA GGCAGGTGCAAAGCTTTTCCAAGATTTTCAGATGTTAAGTAGAATATGGACTCATCCTTGGTGTTTGCAG CTAGACTACATTAGCAAAGAAAATAAGGGTTATTTTGATGAAGACAGTATGGATGAATTTATAGCCTCAG ATTCTGATGAAACCTCCATGAGTTTAAGCTCCGATGATTATACAAAAAAGAAGAAAAAAGGGAAAAAGGG GAAAAAAGATAGTAGCTCAAGTGGAAGTGGCAGTGACAATGATGTTGAAGTGATTAAGGTCTGGAATTCA AGATCTCGGGGAGGTGGTGAAGGAAATGTGGATGAAACAGGAAACAATCCTTCTGTTTCTTTAAAACTGG AAGAAAGTAAAGCTACTTCTTCTTCTAATCCAAGCAGCCCAGCTCCAGACTGGTACAAAGATTTTGTTAC AGATGCTGATGCTGAGGTTTTAGAGCATTCTGGGAAAATGGTACTTCTCTTTGAAATTCTTCGAATGGCA GAGGAAATTGGGGATAAAGTCCTTGTTTTCAGCCAGTCCCTCATATCTCTGGACTTGATTGAAGATTTTC TTGAATTAGCTAGTAGGGAGAAGACAGAAGATAAAGATAAACCCCTTATTTATAAAGGTGAGGGGAAGTG GCTTCGAAACATTGACTATTACCGTTTAGATGGTTCCACTACTGCACAGTCAAGGAAGAAGTGGGCTGAA GAATTTAATGATGAAACTAATGTGAGAGGACGATTATTTATCATTTCTACTAAAGCAGGATCTCTAGGAA TTAATCTGGTAGCTGCTAATCGAGTAATTATATTCGACGCTTCTTGGAATCCATCTTATGACATCCAGAG TATATTCAGAGTTTATCGCTTTGGACAAACTAAGCCTGTTTATGTATATAGGTTCTTAGCTCAGGGAACC ATGGAAGATAAGATTTATGATCGGCAAGTAACTAAGCAGTCACTGTCTTTTCGAGTTGTTGATCAGCAGC AGGTGGAGCGTCATTTTACTATGAATGAGCTTACTGAACTTTATACTTTTGAGCCAGACTTATTAGATGA CCCTAATTCAGAAAAGAAGAAGAAGAGGGATACTCCCATGCTGCCAAAGGATACCATACTTGCAGAGCTC CTTCAGATACATAAAGAACACATTGTAGGATACCATGAACATGATTCTCTTTTGGACCACAAAGAAGAAG AAGAGTTGACTGAAGAAGAAAGAAAAGCAGCTTGGGCTGAGTATGAAGCAGAGAAGAAGGGACTGACCAT GCGTTTCAACATACCAACTGGGACCAATTTACCCCCTGTCAGTTTCAACTCTCAAACTCCTTATATTCCT TTCAATTTGGGAGCCCTGTCAGCAATGAGTAATCAACAGCTGGAGGACCTCATTAATCAAGGAAGAGAAA AAGTTGTAGAAGCAACAAACAGTGTGACAGCAGTGAGGATTCAACCTCTTGAGGATATAATTTCAGCTGT ATGGAAGGAGAACATGAATCTCTCAGAGGCCCAAGTACAGGCGTTAGCATTAAGTAGACAAGCCAGCCAG GAGCTTGATGTTAAACGAAGAGAAGCAATCTACAATGATGTATTGACAAAACAACAGATGTTAATCAGCT GTGTTCAGCGAATACTTATGAACAGAAGGCTCCAGCAGCAGTACAATCAGCAGCAACAGCAACAAATGAC TTATCAACAAGCAACACTGGGTCACCTCATGATGCCAAAGCCCCCAAATTTGATCATGAATCCTTCTAAC TACCAGCAGATTGATATGAGAGGAATGTATCAGCCAGTGGCTGGTGGTATGCAGCCACCACCATTACAGC GTGCACCACCCCCAATGAGAAGCAAAAATCCAGGACCTTCCCAAGGGAAATCAATG ACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGATT ACAAGGATGACGACGATAAGGTTTAA >RC215176 representing NM_000489
Red=Cloning site Green=Tags(s) MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENSKEEGTSSSEK SKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQSLPKGTVIVQPEPVLNEDKDD FKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNHFQKDSIYRHPSLQVLICKNCFKYYMSDDIS RDSDGMDEQCRWCAEGGNLICCDFCHNAFCKKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTAC NSVFENLEQLLQQNKKKIKVDSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPK EMIKKAKKLIETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPTEEQRTNKSTG GEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQSSVDHQGDGSSGTEQEVESSS VKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLSNSPIKGADCQEVPQDKDGYKSCGLNPKLEKCGLG QENSDNEHLVENEVSLLLEESDLRRSPRVKTTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDK RNSSDSAIDNPKPNKLPKSKQSETVDQNSDSDEMLAILKEVSRMSHSSSSDTDINEIHTNHKTLYDLKTQ AGKDDKGKRKQKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKR IPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTTIMELRDRLPK KQQASASTDGVDKLSGKEESFTSLEVRKVAETKEKSKHLKTKTCKKVQDGLSDIAEKFLKKDQSDETSED DKKQSKKGTEEKKKPSDFKKKVIKMEQQYESSSDGTEKLPEREEICHFPKGIKQIKNGTTDGEKKSKKIR DKTSKKKDELSDYAEKSTGKGDSCDSSEDKKSKNGAYGREKKRCKLLGKSSRKRQDCSSSDTEKYSMKED GCNSSDKRLKRIELRERRNLSSKRNTKEIQSGSSSSDAEESSEDNKKKKQRTSSKKKAVIVKEKKRNSLR TSTKRKQADITSSSSSDIEDDDQNSIGEGSSDEQKIKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDD DDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQVNSESDSDSEE SKKPRYRHRLLRHKLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSEDSDFQESGVSEEVSESEDEQ RPRTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKSNSEEEEEEKEEEEEEEEEEEEEEEDENDDS KSPGKGRKKIRKILKDDKLRTETQNALKEEEERRKRIAEREREREKLREVIEIEDASPTKCPITTKLVLD EDEETKEPLVQVHRNMVIKLKPHQVDGVQFMWDCCCESVKKTKKSPGSGCILAHCMGLGKTLQVVSFLHT VLLCDKLDFSTALVVCPLNTALNWMNEFEKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMI IGYEMYRNLAQGRNVKSRKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRSRRRIILTGTP LQNNLIEYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVMKKRAHILYEMLAGCVQRKDY TALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNNSEGGRGKAGAKLFQDFQMLSRIWTHPWCLQ LDYISKENKGYFDEDSMDEFIASDSDETSMSLSSDDYTKKKKKGKKGKKDSSSSGSGSDNDVEVIKVWNS RSRGGGEGNVDETGNNPSVSLKLEESKATSSSNPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMA EEIGDKVLVFSQSLISLDLIEDFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAE EFNDETNVRGRLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPVYVYRFLAQGT MEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNSEKKKKRDTPMLPKDTILAEL LQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEAEKKGLTMRFNIPTGTNLPPVSFNSQTPYIP FNLGALSAMSNQQLEDLINQGREKVVEATNSVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQ ELDVKRREAIYNDVLTKQQMLISCVQRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSN YQQIDMRGMYQPVAGGMQPPPLQRAPPPMRSKNPGPSQGKSM TRTRPLEQKLISEEDLAANDILDYKDDDDKV |
| Restriction Sites |
SgfI-MluI
Cloning Scheme for this gene
Plasmid Map
|
| ACCN | NM_000489 |
| ORF Size | 7476 bp |
| OTI Disclaimer | Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery. The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info |
| OTI Annotation | This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene. |
| Product Components | The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water). |
| Reconstitution | 1. Centrifuge at 5,000xg for 5min. 2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA. 3. Close the tube and incubate for 10 minutes at room temperature. 4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom. 5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C. |
| Reference Data | |
| RefSeq | NM_000489.6 |
| RefSeq Size | 10330 bp |
| RefSeq ORF | 7479 bp |
| Locus ID | 546 |
| UniProt ID | P46100 |
| Cytogenetics | Xq21.1 |
| Domains | SNF2_N, DEAD, helicase_C |
| Protein Families | Druggable Genome, Transcription Factors |
| MW | 282.4 kDa |
| Gene Summary | The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017] |
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