ATRX report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0006325Biological processchromatin organization
GO_0006366Biological processtranscription by RNA polymerase II
GO_0006281Biological processDNA repair
GO_0007283Biological processspermatogenesis
GO_0060009Biological processSertoli cell development
GO_1904908Biological processnegative regulation of maintenance of mitotic sister chromatid cohesion, telomeric
GO_0030900Biological processforebrain development
GO_0072711Biological processcellular response to hydroxyurea
GO_0035264Biological processmulticellular organism growth
GO_0072520Biological processseminiferous tubule development
GO_0006338Biological processchromatin remodeling
GO_0006334Biological processnucleosome assembly
GO_0000212Biological processmeiotic spindle organization
GO_0010571Biological processpositive regulation of nuclear cell cycle DNA replication
GO_0030330Biological processDNA damage response, signal transduction by p53 class mediator
GO_0031509Biological processsubtelomeric heterochromatin formation
GO_0031297Biological processreplication fork processing
GO_0070198Biological processprotein localization to chromosome, telomeric region
GO_0032206Biological processpositive regulation of telomere maintenance
GO_0070192Biological processchromosome organization involved in meiotic cell cycle
GO_0006355Biological processregulation of DNA-templated transcription
GO_0035128Biological processpost-embryonic forelimb morphogenesis
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0000228Cellular componentnuclear chromosome
GO_0000792Cellular componentheterochromatin
GO_0005654Cellular componentnucleoplasm
GO_0016604Cellular componentnuclear body
GO_0005721Cellular componentpericentric heterochromatin
GO_0016605Cellular componentPML body
GO_0099115Cellular componentchromosome, subtelomeric region
GO_0000779Cellular componentcondensed chromosome, centromeric region
GO_0000781Cellular componentchromosome, telomeric region
GO_0005634Cellular componentnucleus
GO_0035064Molecular functionmethylated histone binding
GO_0004386Molecular functionhelicase activity
GO_0042393Molecular functionhistone binding
GO_0003682Molecular functionchromatin binding
GO_0070087Molecular functionchromo shadow domain binding
GO_0015616Molecular functionDNA translocase activity
GO_0046872Molecular functionmetal ion binding
GO_0005524Molecular functionATP binding
GO_0031490Molecular functionchromatin DNA binding
GO_0140658Molecular functionATP-dependent chromatin remodeler activity
GO_0005515Molecular functionprotein binding
GO_0016887Molecular functionATP hydrolysis activity

IV. Literature review

[source]
Gene nameATRX
Protein nameTranscriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX)
Alternative protein ATRX
Transcriptional regulator ATRX (ATP-dependent helicase ATRX) (X-linked nuclear protein)
Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked nuclear protein)
ATRX chromatin remodeler
Alpha thalassemia/mental retardation syndrome X-linked protein
SynonymsRP5-875J14.1-007
XH2
RP5-875J14.1-004
RAD54L
DescriptionFUNCTION: Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts . May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes . .

AccessionsENST00000493470.2
A4LAA3
A0A6Q8PHA4
L8E6W5
A0A068A261
Q5JX93
ENST00000625063.3
A0A096LPG6
A0A068A230
Q86U63
A0A096LNL7
ENST00000623316.1
A0A096LNX6
ENST00000624032.3
ENST00000624668.3
L8E8D0
ENST00000480283.5
ENST00000400866.4
A0A096LNN3
H0Y3T0
ENST00000395603.7 [P46100-4]
ENST00000675732.1
A0A096LNR8
A0A096LP59
A0A087WWG0
A0A096LNL6
P46100
ENST00000623321.3
ENST00000624166.3
A0A067XLH7
ENST00000622960.1
A0A096LNW1
A0A096LNL9
ENST00000373344.11 [P46100-1]
Q5H9A3
ENST00000623242.3