NSD1 (NM_172349) Human Tagged ORF Clone
CAT#: RG218297
- TrueORF®
NSD1 (tGFP-tagged) - Human nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 1
ORF Plasmid: DDK
"NM_172349" in other vectors (2)
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CNY 20,900.00
Specifications
Product Data | |
Type | Human Tagged ORF Clone |
Tag | TurboGFP |
Synonyms | ARA267; KMT3B; SOTOS; SOTOS1; STO |
Vector | pCMV6-AC-GFP |
E. coli Selection | Ampicillin (100 ug/mL) |
Mammalian Cell Selection | Neomycin |
Sequence Data |
>RG218297 representing NM_172349
Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGCCCCTGAAGACAAGGACAGCCCTTTCGGATGATCCAGATTCCAGTACCAGTACATTAGGAAACATGC TAGAATTACCTGGAACTTCATCATCATCTACTTCACAGGAATTGCCATTTTGTCAACCTAAGAAAAAGTC TACGCCACTGAAGTATGAAGTTGGAGATCTCATCTGGGCAAAATTCAAGAGACGCCCATGGTGGCCCTGC AGGATTTGTTCTGATCCGTTGATTAACACACATTCAAAAATGAAAGTTTCCAACCGGAGGCCCTATCGGC AGTACTACGTGGAGGCTTTTGGAGATCCTTCTGAGAGAGCCTGGGTGGCTGGAAAAGCAATCGTCATGTT TGAAGGCAGACATCAATTCGAAGAGCTACCTGTCCTTAGGAGAAGAGGGAAACAGAAAGAAAAAGGATAT AGGCATAAGGTTCCTCAGAAAATTTTGAGTAAATGGGAAGCCAGTGTTGGACTTGCAGAACAGTATGATG TTCCCAAGGGGTCAAAGAACCGAAAATGTATTCCTGGTTCAATCAAGTTGGACAGTGAAGAAGATATGCC ATTTGAAGACTGCACAAATGATCCTGAGTCAGAACATGACCTGTTGCTTAATGGCTGTTTGAAATCACTG GCTTTTGATTCTGAACATTCTGCAGATGAGAAGGAAAAGCCTTGCGCTAAATCTCGAGCCAGAAAGAGCT CTGATAATCCAAAAAGGACTAGTGTGAAAAAGGGCCACATACAATTTGAAGCACATAAAGATGAACGGAG GGGAAAGATTCCAGAGAACCTTGGCCTAAACTTTATCTCTGGGGATATATCTGATACGCAGGCCTCTAAT GAACTTTCCAGGATAGCAAATAGCCTCACAGGGTCCAACACTGCCCCAGGAAGTTTTCTGTTTTCTTCCT GTGGAAAAAACACTGCAAAGAAAGAATTTGAGACTTCAAATGGTGACTCTTTATTGGGCTTGCCTGAGGG TGCTTTGATCTCAAAGTGTTCTCGAGAGAAGAATAAACCCCAACGAAGCCTGGTGTGTGGTTCAAAAGTG AAGCTCTGCTATATTGGAGCAGGTGATGAGGAAAAGCGAAGTGATTCCATTAGTATCTGTACCACTTCTG ATGATGGAAGCAGTGACCTGGATCCCATAGAACACAGCTCAGAGTCTGATAACAGTGTCCTTGAAATTCC AGATGCTTTCGATAGAACAGAGAACATGTTATCTATGCAGAAAAATGAAAAGATAAAGTATTCTAGGTTT GCTGCCACAAACACTAGGGTAAAAGCAAAACAGAAGCCTCTCATTAGTAACTCACATACAGACCACTTAA TGGGTTGTACTAAGAGTGCAGAGCCTGGAACCGAGACGTCTCAGGTTAATCTCTCTGATCTGAAGGCATC TACTCTTGTTCACAAACCCCAGTCAGATTTTACAAATGATGCTCTCTCTCCAAAATTCAACCTGTCATCA AGCATATCCAGTGAGAACTCGTTAATAAAGGGTGGGGCAGCAAATCAAGCTCTATTACATTCGAAAAGCA AACAGCCCAAGTTCCGAAGTATAAAGTGCAAACACAAAGAAAATCCAGTTATGGCAGAACCCCCAGTTAT AAATGAGGAGTGCAGTTTGAAATGCTGCTCTTCTGATACCAAAGGCTCTCCTTTGGCCAGCATTTCTAAA AGTGGGAAAGTGGATGGTCTAAAACTACTGAACAATATGCATGAGAAAACCAGGGATTCAAGTGACATAG AAACAGCAGTGGTGAAACATGTTTTATCCGAGTTGAAGGAACTCTCTTACAGATCCTTAGGTGAGGATGT CAGTGACTCTGGAACATCAAAGCCATCAAAACCATTACTTTTCTCTTCTGCTTCTAGTCAGAATCACATA CCTATTGAACCAGACTACAAATTCAGTACATTGCTAATGATGTTGAAAGATATGCATGATAGTAAGACGA AGGAGCAGCGGTTGATGACTGCTCAAAACCTGGTCTCTTACCGGAGTCCTGGTCGTGGGGACTGTTCTAC TAATAGTCCTGTAGGAGTCTCTAAGGTTTTGGTTTCAGGAGGCTCCACACACAATTCAGAGAAAAAGGGA GATGGCACTCAGAACTCCGCCAATCCTAGCCCTAGTGGGGGTGACTCTGCATTATCTGGCGAGTTGTCTG CTTCCCTACCTGGCTTACTGTCCGACAAGAGAGACCTCCCTGCTTCTGGTAAAAGTCGTTCAGACTGTGT TACTAGGCGCAACTGTGGACGATCAAAGCCTTCATCCAAATTGCGAGATGCTTTTTCAGCCCAAATGGTA AAGAACACAGTGAACCGTAAAGCCTTAAAGACCGAGCGCAAAAGAAAACTGAATCAGCTTCCAAGTGTGA CTCTTGATGCTGTACTGCAGGGAGACCGAGAACGTGGAGGTTCATTGAGAGGTGGGGCAGAAGATCCTAG TAAAGAGGATCCCCTTCAGATAATGGGCCACTTAACAAGTGAAGATGGTGACCATTTTTCTGATGTGCAT TTCGATAGCAAGGTTAAGCAATCTGATCCTGGTAAAATTTCTGAAAAAGGACTCTCTTTTGAAAACGGAA AAGGCCCAGAGCTGGACTCTGTAATGAACAGTGAGAATGATGAACTCAATGGTGTAAATCAAGTGGTGCC TAAAAAGCGGTGGCAGCGTTTAAACCAAAGGCGCACTAAACCTCGTAAGCGCATGAACAGATTTAAAGAG AAAGAAAACTCTGAGTGTGCCTTTAGGGTCTTACTTCCTAGTGACCCTGTGCAGGAGGGGCGGGATGAGT TTCCAGAGCATAGAACTCCTTCAGCAAGCATACTTGAGGAACCACTGACAGAGCAAAATCATGCTGACTG CTTAGATTCAGCTGGGCCACGGTTAAATGTTTGTGATAAATCCAGTGCCAGCATTGGTGACATGGAAAAG GAGCCAGGAATTCCCAGTTTGACACCACAGGCTGAGCTCCCTGAACCAGCTGTGCGGTCAGAGAAGAAAC GCCTTAGGAAGCCAAGCAAGTGGCTTTTGGAATATACAGAAGAATATGATCAGATATTTGCTCCTAAGAA AAAACAAAAGAAGGTACAGGAGCAGGTGCACAAGGTAAGTTCCCGCTGTGAAGAGGAAAGCCTTCTAGCC CGAGGTCGATCTAGTGCTCAGAACAAGCAGGTGGACGAGAATTCTTTGATTTCAACCAAAGAAGAGCCTC CAGTTCTTGAAAGGGAGGCTCCGTTTTTGGAGGGCCCCTTGGCTCAGTCAGAACTTGGAGGTGGACATGC TGAGTTGCCGCAGCTGACCTTGTCTGTGCCTGTGGCTCCGGAAGTCTCTCCACGGCCTGCCCTTGAGTCT GAGGAATTGCTAGTTAAAACGCCAGGAAATTATGAAAGTAAACGTCAAAGAAAACCAACTAAGAAACTTC TTGAATCCAATGATTTAGACCCTGGATTTATGCCCAAGAAGGGGGACCTTGGCCTTTCTAAAAAGTGCTA TGAAGCTGGTCACCTGGAGAATGGCATAACTGAATCTTGTGCCACATCTTATTCAAAAGATTTTGGTGGA GGCACTACCAAGATATTTGACAAGCCAAGGAAGCGAAAACGACAGAGGCATGCTGCAGCCAAGATGCAGT GTAAAAAAGTGAAAAATGATGACTCGTCAAAAGAGATTCCAGGCTCAGAGGGAGAACTAATGCCTCACAG GACGGCCACAAGCCCCAAGGAGACTGTTGAGGAAGGTGTAGAACACGATCCCGGGATGCCTGCCTCTAAA AAAATGCAGGGTGAACGCGGTGGAGGAGCTGCACTCAAGGAGAATGTCTGTCAGAATTGTGAAAAATTGG GTGAGCTGCTGTTATGTGAGGCTCAGTGCTGTGGGGCTTTCCACCTGGAGTGCCTTGGATTGACTGAGAT GCCAAGAGGAAAATTTATCTGCAATGAATGTCGCACAGGAATCCATACCTGTTTTGTATGTAAGCAGAGT GGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGTGTGTCCAGAAGT ACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGC TAATCCAGCCAATGTTTCTGCATCTAAAGGTCGGTTGATGCGCTGTGTCCGCTGTCCTGTGGCATACCAC GCCAATGACTTTTGCCTGGCTGCTGGGTCAAAGATCCTTGCATCTAATAGTATCATCTGCCCTAATCACT TTACCCCTAGGCGGGGCTGCCGAAATCATGAGCATGTTAATGTTAGCTGGTGCTTTGTGTGCTCAGAAGG AGGCAGCCTTCTGTGCTGTGATTCTTGCCCTGCTGCTTTTCATCGTGAATGCCTGAACATTGATATCCCT GAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAA AAGTTGGACGATACAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCCAACATTGATAA GATGAGACATGATGTGGGAGAGTTCCCAGTCCTCTTTTTTGGATCTAATGACTATTTGTGGACTCACCAG GCCCGAGTCTTCCCTTACATGGAGGGTGACGTGAGCAGCAAGGATAAGATGGGCAAAGGAGTGGATGGGA CATATAAAAAAGCTCTTCAGGAAGCTGCAGCAAGGTTTGAGGAATTAAAGGCCCAAAAAGAGCTAAGACA GCTGCAGGAAGACCGAAAGAATGACAAGAAGCCACCACCTTATAAACATATAAAGGTAAACCGTCCTATT GGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGA ACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCC TGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACA TTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGGTGAATTTGTGAATGAGTATGTGG GTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTT CTATATGCTCACCCTAGACAAAGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATG AATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTT TTGCACTAAGTGACATTAAAGCAGGCACTGAACTTACCTTCAACTACAACCTAGAATGTCTTGGGAATGG AAAGACTGTTTGCAAATGTGGAGCCCCGAACTGCAGTGGCTTCTTGGGTGTAAGGCCAAAGAATCAACCC ATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAA TCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACC AGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGGAAATGGGAATGT CCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTT GTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGA CCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCT CCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATA AACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCC ATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTC GCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGG CAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAG GTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGC CCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGC TCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCA GAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTG AGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTC CTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTT GGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTG TCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCAC TCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTC AGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAG GCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTC TCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGC CCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGC TGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAAC CAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAA G ACGCGTACGCGGCCGCTCGAG - GFP Tag - GTTTAA >RG218297 representing NM_172349
Red=Cloning site Green=Tags(s) MPLKTRTALSDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPC RICSDPLINTHSKMKVSNRRPYRQYYVEAFGDPSERAWVAGKAIVMFEGRHQFEELPVLRRRGKQKEKGY RHKVPQKILSKWEASVGLAEQYDVPKGSKNRKCIPGSIKLDSEEDMPFEDCTNDPESEHDLLLNGCLKSL AFDSEHSADEKEKPCAKSRARKSSDNPKRTSVKKGHIQFEAHKDERRGKIPENLGLNFISGDISDTQASN ELSRIANSLTGSNTAPGSFLFSSCGKNTAKKEFETSNGDSLLGLPEGALISKCSREKNKPQRSLVCGSKV KLCYIGAGDEEKRSDSISICTTSDDGSSDLDPIEHSSESDNSVLEIPDAFDRTENMLSMQKNEKIKYSRF AATNTRVKAKQKPLISNSHTDHLMGCTKSAEPGTETSQVNLSDLKASTLVHKPQSDFTNDALSPKFNLSS SISSENSLIKGGAANQALLHSKSKQPKFRSIKCKHKENPVMAEPPVINEECSLKCCSSDTKGSPLASISK SGKVDGLKLLNNMHEKTRDSSDIETAVVKHVLSELKELSYRSLGEDVSDSGTSKPSKPLLFSSASSQNHI PIEPDYKFSTLLMMLKDMHDSKTKEQRLMTAQNLVSYRSPGRGDCSTNSPVGVSKVLVSGGSTHNSEKKG DGTQNSANPSPSGGDSALSGELSASLPGLLSDKRDLPASGKSRSDCVTRRNCGRSKPSSKLRDAFSAQMV KNTVNRKALKTERKRKLNQLPSVTLDAVLQGDRERGGSLRGGAEDPSKEDPLQIMGHLTSEDGDHFSDVH FDSKVKQSDPGKISEKGLSFENGKGPELDSVMNSENDELNGVNQVVPKKRWQRLNQRRTKPRKRMNRFKE KENSECAFRVLLPSDPVQEGRDEFPEHRTPSASILEEPLTEQNHADCLDSAGPRLNVCDKSSASIGDMEK EPGIPSLTPQAELPEPAVRSEKKRLRKPSKWLLEYTEEYDQIFAPKKKQKKVQEQVHKVSSRCEEESLLA RGRSSAQNKQVDENSLISTKEEPPVLEREAPFLEGPLAQSELGGGHAELPQLTLSVPVAPEVSPRPALES EELLVKTPGNYESKRQRKPTKKLLESNDLDPGFMPKKGDLGLSKKCYEAGHLENGITESCATSYSKDFGG GTTKIFDKPRKRKRQRHAAAKMQCKKVKNDDSSKEIPGSEGELMPHRTATSPKETVEEGVEHDPGMPASK KMQGERGGGAALKENVCQNCEKLGELLLCEAQCCGAFHLECLGLTEMPRGKFICNECRTGIHTCFVCKQS GEDVKRCLLPLCGKFYHEECVQKYPPTVMQNKGFRCSLHICITCHAANPANVSASKGRLMRCVRCPVAYH ANDFCLAAGSKILASNSIICPNHFTPRRGCRNHEHVNVSWCFVCSEGGSLLCCDSCPAAFHRECLNIDIP EGNWYCNDCKAGKKPHYREIVWVKVGRYRWWPAEICHPRAVPSNIDKMRHDVGEFPVLFFGSNDYLWTHQ ARVFPYMEGDVSSKDKMGKGVDGTYKKALQEAAARFEELKAQKELRQLQEDRKNDKKPPPYKHIKVNRPI GRVQIFTADLSEIPRCNCKATDENPCGIDSECINRMLLYECHPTVCPAGGRCQNQCFSKRQYPEVEIFRT LQRGWGLRTKTDIKKGEFVNEYVGELIDEEECRARIRYAQEHDITNFYMLTLDKDRIIDAGPKGNYARFM NHCCQPNCETQKWSVNGDTRVGLFALSDIKAGTELTFNYNLECLGNGKTVCKCGAPNCSGFLGVRPKNQP IATEEKSKKFKKKQQGKRRTQGEITKEREDECFSCGDAGQLVSCKKPGCPKVYHADCLNLTKRPAGKWEC PWHQCDICGKEAASFCEMCPSSFCKQHREGMLFISKLDGRLSCTEHDPCGPNPLEPGEIREYVPPPVPLP PGPSTHLAEQSTGMAAQAPKMSDKPPADTNQMLSLSKKALAGTCQRPLLPERPLERTDSRPQPLDKVRDL AGSGTKSQSLVSSQRPLDRPPAVAGPRPQLSDKPSPVTSPSSSPSVRSQPLERPLGTADPRLDKSIGAAS PRPQSLEKTSVPTGLRLPPPDRLLITSSPKPQTSDRPTDKPHASLSQRLPPPEKVLSAVVQTLVAKEKAL RPVDQNTQSKNRAALVMDLIDLTPRQKERAASPHQVTPQADEKMPVLESSSWPASKGLGHMPRAVEKGCV SDPLQTSGKAAAPSEDPWQAVKSLTQARLLSQPPAKAFLYEPTTQASGRASAGAEQTPGPLSQSPGLVKQ AKQMVGGQQLPALAAKSGQSFRSLGKAPASLPTEEKKLVTTEQSPWALGKASSRAGLWPIVAGQTLAQSC WSAGSTQTLAQTCWSLGRGQDPKPEQNTLPALNQAPSSHKCAESEQK TRTRPLE - GFP Tag - V |
Restriction Sites | SgfI-MluI Cloning Scheme for this gene Plasmid Map |
ACCN | NM_172349 |
ORF Size | 7281 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_172349.2, NP_758859.1 |
RefSeq Size | 12213 bp |
RefSeq ORF | 7284 bp |
Locus ID | 64324 |
UniProt ID | Q96L73 |
Protein Families | Druggable Genome |
Protein Pathways | Lysine degradation |
Gene Summary | This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018] |
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