Details for: ATRX

Gene ID: 546

Symbol: ATRX

Ensembl ID: ENSG00000085224

Description: ATRX chromatin remodeler

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 757.5289
    Cell Significance Index: -117.8300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 440.1061
    Cell Significance Index: -111.6300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 344.0729
    Cell Significance Index: -141.7400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 294.9234
    Cell Significance Index: -139.2400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 266.1615
    Cell Significance Index: -108.1300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 239.1593
    Cell Significance Index: -123.0200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 208.4283
    Cell Significance Index: -139.8600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 114.1669
    Cell Significance Index: -109.0000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 101.7230
    Cell Significance Index: -125.4200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 47.5090
    Cell Significance Index: -127.2700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 37.2918
    Cell Significance Index: -114.5400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 32.4698
    Cell Significance Index: -128.1300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 32.2445
    Cell Significance Index: -70.5700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 3.9295
    Cell Significance Index: 220.5100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 3.6867
    Cell Significance Index: 226.6000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.2741
    Cell Significance Index: 1174.3500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 3.0058
    Cell Significance Index: 156.5700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.8472
    Cell Significance Index: 565.0400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.6538
    Cell Significance Index: 478.4100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 2.6511
    Cell Significance Index: 63.5800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.5774
    Cell Significance Index: 316.9200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.4905
    Cell Significance Index: 342.0100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.4632
    Cell Significance Index: 53.9400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.3275
    Cell Significance Index: 1609.7600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.1211
    Cell Significance Index: 162.7700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.8443
    Cell Significance Index: 118.9900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.8327
    Cell Significance Index: 35.7700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.6456
    Cell Significance Index: 45.9900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.4529
    Cell Significance Index: 793.4600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.4366
    Cell Significance Index: 96.6000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.4108
    Cell Significance Index: 74.0700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.0128
    Cell Significance Index: 447.7900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8266
    Cell Significance Index: 23.8200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.8202
    Cell Significance Index: 105.1400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.8125
    Cell Significance Index: 95.8200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.7556
    Cell Significance Index: 33.4200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7375
    Cell Significance Index: 33.4300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.6506
    Cell Significance Index: 11.1500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.6397
    Cell Significance Index: 1204.4800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.5541
    Cell Significance Index: 14.5700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.5513
    Cell Significance Index: 14.1700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5229
    Cell Significance Index: 24.3800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4798
    Cell Significance Index: 18.1700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.4310
    Cell Significance Index: 273.7100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3906
    Cell Significance Index: 78.3600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3246
    Cell Significance Index: 293.1200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.3169
    Cell Significance Index: 143.8200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3066
    Cell Significance Index: 14.4100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.3013
    Cell Significance Index: 463.8600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.2746
    Cell Significance Index: 506.3500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2176
    Cell Significance Index: 7.5600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1859
    Cell Significance Index: 11.7200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1576
    Cell Significance Index: 26.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1309
    Cell Significance Index: 4.6000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0989
    Cell Significance Index: 134.4500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0511
    Cell Significance Index: 37.4400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0307
    Cell Significance Index: -5.8400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0850
    Cell Significance Index: -63.0000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.1001
    Cell Significance Index: -75.7600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1139
    Cell Significance Index: -71.1000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.1408
    Cell Significance Index: -13.9300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1592
    Cell Significance Index: -4.2500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1660
    Cell Significance Index: -93.6100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2386
    Cell Significance Index: -6.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2648
    Cell Significance Index: -27.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.2846
    Cell Significance Index: -46.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3026
    Cell Significance Index: -43.9900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3128
    Cell Significance Index: -40.4100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3170
    Cell Significance Index: -66.7700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3263
    Cell Significance Index: -16.9500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3966
    Cell Significance Index: -28.0500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.4577
    Cell Significance Index: -131.6800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5400
    Cell Significance Index: -15.4100
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.5527
    Cell Significance Index: -4.2600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.5756
    Cell Significance Index: -42.9000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.5838
    Cell Significance Index: -66.8900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6975
    Cell Significance Index: -72.6300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.7124
    Cell Significance Index: -83.0300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.7571
    Cell Significance Index: -86.4200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.8893
    Cell Significance Index: -19.0100
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.9393
    Cell Significance Index: -13.5100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.0204
    Cell Significance Index: -29.2500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.0548
    Cell Significance Index: -24.3700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -1.1988
    Cell Significance Index: -14.2900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -1.2118
    Cell Significance Index: -17.8900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -1.3318
    Cell Significance Index: -105.4800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -1.3937
    Cell Significance Index: -28.9100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -1.7047
    Cell Significance Index: -28.5300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.9196
    Cell Significance Index: -41.5900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -2.0962
    Cell Significance Index: -28.6000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -2.1692
    Cell Significance Index: -69.4800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -2.1772
    Cell Significance Index: -133.4800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -2.2568
    Cell Significance Index: -71.3800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -2.2847
    Cell Significance Index: -67.1000
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -2.3063
    Cell Significance Index: -32.8300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -2.3624
    Cell Significance Index: -21.7600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -2.5586
    Cell Significance Index: -68.4400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -2.5684
    Cell Significance Index: -53.7600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -2.5927
    Cell Significance Index: -66.2400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -2.7410
    Cell Significance Index: -89.7400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Chromatin Remodeler**: ATRX is a member of the SNF2 family of chromatin remodelers, which are essential for the dynamic reorganization of chromatin structure to facilitate gene expression and DNA repair. 2. **Telomere Maintenance**: ATRX is involved in the regulation of telomere length by maintaining the integrity of telomeric chromatin and preventing the activation of telomere maintenance pathways. 3. **Gene Regulation**: ATRX regulates gene expression by facilitating the removal of epigenetic barriers to gene transcription, including histone modifications and DNA methylation. 4. **Immune Function**: ATRX is expressed in various immune cells, including T cells and dendritic cells, and plays a role in regulating immune responses, including the activation of T cells and the production of cytokines. **Pathways and Functions:** 1. **Alternative Lengthening of Telomeres (alt)**: ATRX is involved in the regulation of telomere length by preventing the activation of alt pathways, which can lead to telomere shortening. 2. **Atp-dependent Chromatin Remodeler Activity**: ATRX is a member of the SNF2 family of chromatin remodelers, which are essential for the dynamic reorganization of chromatin structure to facilitate gene expression and DNA repair. 3. **Cell Cycle Regulation**: ATRX regulates the cell cycle by maintaining the integrity of telomeric chromatin and preventing the activation of telomere maintenance pathways. 4. **DNA Repair**: ATRX is involved in the regulation of DNA repair by maintaining the integrity of telomeric chromatin and preventing the activation of DNA repair pathways. **Clinical Significance:** 1. **Cancer**: Mutations in the ATRX gene have been implicated in various types of cancer, including leukemia, lymphoma, and breast cancer. 2. **Developmental Disorders**: ATRX mutations have been associated with developmental disorders, including Angelman syndrome and Prader-Willi syndrome. 3. **Autoimmune Conditions**: ATRX mutations have been implicated in autoimmune conditions, including type 1 diabetes and multiple sclerosis. 4. **Immune-Related Disorders**: ATRX mutations have been associated with immune-related disorders, including autoimmune lymphoproliferative syndrome and primary immunodeficiency diseases. In conclusion, the ATRX gene plays a critical role in maintaining telomere length, regulating gene expression, and influencing immune cell function. Mutations in the ATRX gene have been implicated in various diseases, including cancer, developmental disorders, and autoimmune conditions, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 2420390440

Symbol: ATRX_HUMAN

Name: Transcriptional regulator ATRX

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8968741

Title: ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

PubMed ID: 8968741

DOI: 10.1093/hmg/5.12.1899

PubMed ID: 9244431

Title: Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.

PubMed ID: 9244431

DOI: 10.1006/geno.1997.4793

PubMed ID: 12777533

Title: Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees.

PubMed ID: 12777533

DOI: 10.1093/molbev/msg134

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 7874112

Title: Cloning and characterization of a new human Xq13 gene, encoding a putative helicase.

PubMed ID: 7874112

DOI: 10.1093/hmg/3.11.1957

PubMed ID: 8162050

Title: Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3.

PubMed ID: 8162050

DOI: 10.1093/hmg/3.1.39

PubMed ID: 7697714

Title: Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

PubMed ID: 7697714

DOI: 10.1016/0092-8674(95)90287-2

PubMed ID: 9499421

Title: Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein.

PubMed ID: 9499421

DOI: 10.1093/hmg/7.4.679

PubMed ID: 10570185

Title: Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

PubMed ID: 10570185

DOI: 10.1073/pnas.96.24.13983

PubMed ID: 10751095

Title: Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

PubMed ID: 10751095

DOI: 10.1002/(sici)1096-8628(20000306)91:1<83::aid-ajmg15>3.3.co;2-e

PubMed ID: 10699177

Title: Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association.

PubMed ID: 10699177

DOI: 10.1093/hmg/9.4.539

PubMed ID: 12858175

Title: Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

PubMed ID: 12858175

DOI: 10.1038/ng1213

PubMed ID: 12953102

Title: The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies.

PubMed ID: 12953102

DOI: 10.1073/pnas.1937626100

PubMed ID: 14990586

Title: A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein.

PubMed ID: 14990586

DOI: 10.1074/jbc.m401321200

PubMed ID: 15882967

Title: The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain.

PubMed ID: 15882967

DOI: 10.1016/j.bbrc.2005.04.016

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17296936

Title: Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

PubMed ID: 17296936

DOI: 10.1073/pnas.0608056104

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21029860

Title: ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

PubMed ID: 21029860

DOI: 10.1016/j.cell.2010.09.023

PubMed ID: 20211137

Title: Distinct factors control histone variant H3.3 localization at specific genomic regions.

PubMed ID: 20211137

DOI: 10.1016/j.cell.2010.01.003

PubMed ID: 20504901

Title: The death-associated protein DAXX is a novel histone chaperone involved in the replication-independent deposition of H3.3.

PubMed ID: 20504901

DOI: 10.1101/gad.566910

PubMed ID: 20651253

Title: Daxx is an H3.3-specific histone chaperone and cooperates with ATRX in replication-independent chromatin assembly at telomeres.

PubMed ID: 20651253

DOI: 10.1073/pnas.1008850107

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21421568

Title: The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

PubMed ID: 21421568

DOI: 10.1093/hmg/ddr107

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22391447

Title: ATRX-mediated chromatin association of histone variant macroH2A1 regulates alpha-globin expression.

PubMed ID: 22391447

DOI: 10.1101/gad.179416.111

PubMed ID: 22829774

Title: Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway.

PubMed ID: 22829774

DOI: 10.1371/journal.pgen.1002772

PubMed ID: 23222847

Title: DAXX-dependent supply of soluble (H3.3-H4) dimers to PML bodies pending deposition into chromatin.

PubMed ID: 23222847

DOI: 10.1101/gr.142703.112

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 24500201

Title: Alternative lengthening of telomeres is characterized by reduced compaction of telomeric chromatin.

PubMed ID: 24500201

DOI: 10.1093/nar/gku114

PubMed ID: 24651726

Title: ATRX dysfunction induces replication defects in primary mouse cells.

PubMed ID: 24651726

DOI: 10.1371/journal.pone.0092915

PubMed ID: 25114211

Title: Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.

PubMed ID: 25114211

DOI: 10.1073/pnas.1413825111

PubMed ID: 25772364

Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.

PubMed ID: 25772364

DOI: 10.1016/j.celrep.2015.02.033

PubMed ID: 27029610

Title: ATRX binds to atypical chromatin domains at the 3' exons of zinc finger genes to preserve H3K9me3 enrichment.

PubMed ID: 27029610

DOI: 10.1080/15592294.2016.1169351

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 17609377

Title: Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.

PubMed ID: 17609377

DOI: 10.1073/pnas.0704057104

PubMed ID: 21666679

Title: ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome.

PubMed ID: 21666679

DOI: 10.1038/nsmb.2062

PubMed ID: 21666677

Title: Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin.

PubMed ID: 21666677

DOI: 10.1038/nsmb.2070

PubMed ID: 9043863

Title: A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

PubMed ID: 9043863

DOI: 10.1159/000472225

PubMed ID: 8630485

Title: XNP mutation in a large family with Juberg-Marsidi syndrome.

PubMed ID: 8630485

DOI: 10.1038/ng0496-359

PubMed ID: 9326931

Title: Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.

PubMed ID: 9326931

DOI: 10.1038/ng1097-146

PubMed ID: 10660327

Title: New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome.

PubMed ID: 10660327

PubMed ID: 10417298

Title: Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PubMed ID: 10417298

DOI: 10.1086/302499

PubMed ID: 10398237

Title: Carpenter-Waziri syndrome results from a mutation in XNP.

PubMed ID: 10398237

DOI: 10.1002/(sici)1096-8628(19990730)85:3<249::aid-ajmg12>3.0.co;2-u

PubMed ID: 10204841

Title: Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

PubMed ID: 10204841

PubMed ID: 10995512

Title: Molecular genetic study of Japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

PubMed ID: 10995512

DOI: 10.1002/1096-8628(20000918)94:3<242::aid-ajmg11>3.3.co;2-b

PubMed ID: 11050622

Title: Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

PubMed ID: 11050622

DOI: 10.1002/1096-8628(20001023)94:5<383::aid-ajmg7>3.0.co;2-7

PubMed ID: 12116232

Title: Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PubMed ID: 12116232

DOI: 10.1002/ajmg.10446

PubMed ID: 16222662

Title: Asplenia in ATR-X syndrome: a second report.

PubMed ID: 16222662

DOI: 10.1002/ajmg.a.30990

PubMed ID: 15565397

Title: A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

PubMed ID: 15565397

DOI: 10.1007/s10048-004-0190-3

PubMed ID: 16955409

Title: ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

PubMed ID: 16955409

DOI: 10.1002/ajmg.a.31400

Sequence Information:

  • Length: 2492
  • Mass: 282587
  • Checksum: 938F82D6D6F99805
  • Sequence:
  • MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS 
    KEEGTSSSEK SKSSGSSRSK RKPSIVTKYV ESDDEKPLDD ETVNEDASNE NSENDITMQS 
    LPKGTVIVQP EPVLNEDKDD FKGPEFRSRS KMKTENLKKR GEDGLHGIVS CTACGQQVNH 
    FQKDSIYRHP SLQVLICKNC FKYYMSDDIS RDSDGMDEQC RWCAEGGNLI CCDFCHNAFC 
    KKCILRNLGR KELSTIMDEN NQWYCYICHP EPLLDLVTAC NSVFENLEQL LQQNKKKIKV 
    DSEKSNKVYE HTSRFSPKKT SSNCNGEEKK LDDSCSGSVT YSYSALIVPK EMIKKAKKLI 
    ETTANMNSSY VKFLKQATDN SEISSATKLR QLKAFKSVLA DIKKAHLALE EDLNSEFRAM 
    DAVNKEKNTK EHKVIDAKFE TKARKGEKPC ALEKKDISKS EAKLSRKQVD SEHMHQNVPT 
    EEQRTNKSTG GEHKKSDRKE EPQYEPANTS EDLDMDIVSV PSSVPEDIFE NLETAMEVQS 
    SVDHQGDGSS GTEQEVESSS VKLNISSKDN RGGIKSKTTA KVTKELYVKL TPVSLSNSPI 
    KGADCQEVPQ DKDGYKSCGL NPKLEKCGLG QENSDNEHLV ENEVSLLLEE SDLRRSPRVK 
    TTPLRRPTET NPVTSNSDEE CNETVKEKQK LSVPVRKKDK RNSSDSAIDN PKPNKLPKSK 
    QSETVDQNSD SDEMLAILKE VSRMSHSSSS DTDINEIHTN HKTLYDLKTQ AGKDDKGKRK 
    RKSSTSGSDF DTKKGKSAKS SIISKKKRQT QSESSNYDSE LEKEIKSMSK IGAARTTKKR 
    IPNTKDFDSS EDEKHSKKGM DNQGHKNLKT SQEGSSDDAE RKQERETFSS AEGTVDKDTT 
    IMELRDRLPK KQQASASTDG VDKLSGKEES FTSLEVRKVA ETKEKSKHLK TKTCKKVQDG 
    LSDIAEKFLK KDQSDETSED DKKQSKKGTE EKKKPSDFKK KVIKMEQQYE SSSDGTEKLP 
    EREEICHFPK GIKQIKNGTT DGEKKSKKIR DKTSKKKDEL SDYAEKSTGK GDSCDSSEDK 
    KSKNGAYGRE KKRCKLLGKS SRKRQDCSSS DTEKYSMKED GCNSSDKRLK RIELRERRNL 
    SSKRNTKEIQ SGSSSSDAEE SSEDNKKKKQ RTSSKKKAVI VKEKKRNSLR TSTKRKQADI 
    TSSSSSDIED DDQNSIGEGS SDEQKIKPVT ENLVLSSHTG FCQSSGDEAL SKSVPVTVDD 
    DDDDNDPENR IAKKMLLEEI KANLSSDEDG SSDDEPEEGK KRTGKQNEEN PGDEEAKNQV 
    NSESDSDSEE SKKPRYRHRL LRHKLTVSDG ESGEEKKTKP KEHKEVKGRN RRKVSSEDSE 
    DSDFQESGVS EEVSESEDEQ RPRTRSAKKA ELEENQRSYK QKKKRRRIKV QEDSSSENKS 
    NSEEEEEEKE EEEEEEEEEE EEEEDENDDS KSPGKGRKKI RKILKDDKLR TETQNALKEE 
    EERRKRIAER EREREKLREV IEIEDASPTK CPITTKLVLD EDEETKEPLV QVHRNMVIKL 
    KPHQVDGVQF MWDCCCESVK KTKKSPGSGC ILAHCMGLGK TLQVVSFLHT VLLCDKLDFS 
    TALVVCPLNT ALNWMNEFEK WQEGLKDDEK LEVSELATVK RPQERSYMLQ RWQEDGGVMI 
    IGYEMYRNLA QGRNVKSRKL KEIFNKALVD PGPDFVVCDE GHILKNEASA VSKAMNSIRS 
    RRRIILTGTP LQNNLIEYHC MVNFIKENLL GSIKEFRNRF INPIQNGQCA DSTMVDVRVM 
    KKRAHILYEM LAGCVQRKDY TALTKFLPPK HEYVLAVRMT SIQCKLYQYY LDHLTGVGNN 
    SEGGRGKAGA KLFQDFQMLS RIWTHPWCLQ LDYISKENKG YFDEDSMDEF IASDSDETSM 
    SLSSDDYTKK KKKGKKGKKD SSSSGSGSDN DVEVIKVWNS RSRGGGEGNV DETGNNPSVS 
    LKLEESKATS SSNPSSPAPD WYKDFVTDAD AEVLEHSGKM VLLFEILRMA EEIGDKVLVF 
    SQSLISLDLI EDFLELASRE KTEDKDKPLI YKGEGKWLRN IDYYRLDGST TAQSRKKWAE 
    EFNDETNVRG RLFIISTKAG SLGINLVAAN RVIIFDASWN PSYDIQSIFR VYRFGQTKPV 
    YVYRFLAQGT MEDKIYDRQV TKQSLSFRVV DQQQVERHFT MNELTELYTF EPDLLDDPNS 
    EKKKKRDTPM LPKDTILAEL LQIHKEHIVG YHEHDSLLDH KEEEELTEEE RKAAWAEYEA 
    EKKGLTMRFN IPTGTNLPPV SFNSQTPYIP FNLGALSAMS NQQLEDLINQ GREKVVEATN 
    SVTAVRIQPL EDIISAVWKE NMNLSEAQVQ ALALSRQASQ ELDVKRREAI YNDVLTKQQM 
    LISCVQRILM NRRLQQQYNQ QQQQQMTYQQ ATLGHLMMPK PPNLIMNPSN YQQIDMRGMY 
    QPVAGGMQPP PLQRAPPPMR SKNPGPSQGK SM

Genular Protein ID: 914767088

Symbol: B4DLW1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 322
  • Mass: 37129
  • Checksum: A7EEADA84098E0DC
  • Sequence:
  • MEDKIYDRQV TKQSLSFRVV DQQQVERHFT MNELTELYTF EPDLLDDPNS EKKKKRDTPM 
    LPKDTILAEL LQIHKEHIVG YHEHDSLLDH KEEEELTEEE RKAAWAEYEA EKKGLTMRFN 
    IPTGTNLPPV SFNSQTPYIP FNLGALSAMS NQQLEDLINQ GREKVVEATN SVTAVRIQPL 
    EDIISAAWKE NMNLSEAQVQ ALALSRQASQ ELDVKRREAI YNDVLTKQQM LISCVQRILM 
    NRRLQQQYNQ QQQQQMTYQQ ATLGHLMMPK PPNLIMNPSN YQQIDMRGMY QPVAGGMQPP 
    PLQRAPPPMR SKNPGPSQGK SM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.