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ATRX alpha thalassemia/mental retardation syndrome X-linked [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu23446 NM_000489 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu24120 NM_138270 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu54182 XM_005262153 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu54183 XM_005262154 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu54184 XM_005262155 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X3, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu54185 XM_006724666 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X6, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu54186 XM_005262156 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X4, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu54187 XM_005262157 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X5, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu54188 XM_006724667 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X7, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu54189 XM_006724668 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X8, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu23446C NM_000489 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. Customized vector On-demand TBD TBD
OHu24120C NM_138270 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 2, mRNA. Customized vector On-demand TBD TBD
OHu54182C XM_005262153 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X1, mRNA. Customized vector On-demand TBD TBD
OHu54183C XM_005262154 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X2, mRNA. Customized vector On-demand TBD TBD
OHu54184C XM_005262155 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X3, mRNA. Customized vector On-demand TBD TBD
OHu54185C XM_006724666 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X6, mRNA. Customized vector On-demand TBD TBD
OHu54186C XM_005262156 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X4, mRNA. Customized vector On-demand TBD TBD
OHu54187C XM_005262157 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X5, mRNA. Customized vector On-demand TBD TBD
OHu54188C XM_006724667 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X7, mRNA. Customized vector On-demand TBD TBD
OHu54189C XM_006724668 PREDICTED: Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant X8, mRNA. Customized vector On-demand TBD TBD

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Gene Symbol ATRX
Entrez Gene ID 546
Full Name alpha thalassemia/mental retardation syndrome X-linked
Synonyms ATR2, JMS, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX
General protein information
Preferred Names
transcriptional regulator ATRX
Names
transcriptional regulator ATRX
RAD54 homolog
X-linked helicase II
Zinc finger helicase
helicase 2, X-linked
X-linked nuclear protein
ATP-dependent helicase ATRX
DNA dependent ATPase and helicase
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
NP_000480.2
NP_612114.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq21.1

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 an X-linked mental retardation (XLMR) syndrome most often accompanied by 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, Aug 2013].
Disorder

MIM: 300032

Alpha-thalassemia/mental retardation syndrome, 301040 (3);

mRNA Protein Product Sequence Price Select
NM_000489, 530788275 NP_000480, 530788276 transcriptional regulator ATRX isoform 1 ORF Sequence $3500.00
NM_138270, 530788277 NP_612114, 530788278 transcriptional regulator ATRX isoform 2 ORF Sequence $3500.00
XM_005262153, 578838406 XP_005262210, 578838407 transcriptional regulator ATRX isoform X1 ORF Sequence $3500.00
XM_005262154, 578838408 XP_005262211, 578838409 transcriptional regulator ATRX isoform X2 ORF Sequence $3500.00
XM_005262155, 578838410 XP_005262212, 578838411 transcriptional regulator ATRX isoform X3 ORF Sequence $3500.00
XM_005262156, 578838414 XP_005262213, 578838415 transcriptional regulator ATRX isoform X4 ORF Sequence $3500.00
XM_005262157, 578838416 XP_005262214, 578838417 transcriptional regulator ATRX isoform X5 ORF Sequence $3500.00
XM_006724666, 578838412 XP_006724729, 578838413 transcriptional regulator ATRX isoform X6 ORF Sequence $3500.00
XM_006724667, 578838418 XP_006724730, 578838419 transcriptional regulator ATRX isoform X7 ORF Sequence $3500.00
XM_006724668, 578838420 XP_006724731, 578838421 transcriptional regulator ATRX isoform X8 ORF Sequence $2500.00
Homo sapiens (human)ATRXNP_000480.3
Pan troglodytes (chimpanzee)ATRXNP_001009018.1
Macaca mulatta (Rhesus monkey)ATRXXP_001099874.1
Canis lupus familiaris (dog)ATRXXP_538084.2
Bos taurus (cattle)ATRXXP_005228030.1
Mus musculus (house mouse)AtrxNP_033556.2
Rattus norvegicus (Norway rat)AtrxXP_006257219.1
Gallus gallus (chicken)ATRXXP_420305.3
Danio rerio (zebrafish)atrxNP_956947.2
Xenopus (Silurana) tropicalis (western clawed frog)atrxXP_002931858.1
Process
IDNameEvidence
GO:0006200ATP catabolic processIDA
GO:0006281DNA repairIEA
GO:0006306DNA methylationTAS
GO:0006310DNA recombinationTAS
GO:0006334nucleosome assemblyIDA
GO:0006336DNA replication-independent nucleosome assemblyIMP
GO:0006338chromatin remodelingIDA
GO:0006351transcription, DNA-templatedIEA
GO:0006355regulation of transcription, DNA-templatedTAS
GO:0010571positive regulation of nuclear cell cycle DNA replicationISS
GO:0030330DNA damage response, signal transduction by p53 class mediatorISS
GO:0030900forebrain developmentIEA
GO:0031297replication fork processingISS
GO:0032206positive regulation of telomere maintenanceISS
GO:0032508DNA duplex unwindingTAS
GO:0045944positive regulation of transcription from RNA polymerase II promoterIMP
GO:0072711cellular response to hydroxyureaISS
GO:1901581negative regulation of telomeric RNA transcription from RNA pol II promoterISS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005720nuclear heterochromatinTAS
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005739mitochondrionIDA
GO:0016605PML bodyIEA
GO:0031933telomeric heterochromatinISS
GO:0070603SWI/SNF superfamily-type complexIDA
Function
IDNameEvidence
GO:0003677DNA bindingIEA
GO:0003678DNA helicase activityTAS
GO:0003682chromatin bindingIEA
GO:0004386helicase activityTAS
GO:0005515protein bindingIPI
GO:0005524ATP bindingIEA
GO:0008270zinc ion bindingIEA
GO:0015616DNA translocase activityIDA
GO:0035064methylated histone bindingIDA
GO:0042393histone bindingIDA
GO:0070087chromo shadow domain bindingIPI
GeneCards ATRX
UniProt P46100, A4LAA3, B4DLW1
Vega OTTHUMG00000022686
MIM 300032
Ensembl ENSG00000085224
HGNC 886
HPRD 02069

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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