Details for: WAS

Gene ID: 7454

Symbol: WAS

Ensembl ID: ENSG00000015285

Description: WASP actin nucleation promoting factor

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: 137.3234
    Cell Significance Index: -21.3600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 57.8451
    Cell Significance Index: -23.5000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 49.8459
    Cell Significance Index: -25.6400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 48.4539
    Cell Significance Index: -12.2900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.2918
    Cell Significance Index: -21.3200
  • Cell Name: centroblast (CL0009112)
    Fold Change: 6.7722
    Cell Significance Index: 15.8000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.5461
    Cell Significance Index: -21.8900
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 4.0707
    Cell Significance Index: 10.9100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.9265
    Cell Significance Index: -12.0600
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 3.7925
    Cell Significance Index: 25.1600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 3.6266
    Cell Significance Index: 67.0300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 3.3141
    Cell Significance Index: 97.3300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.3531
    Cell Significance Index: -5.1500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.9997
    Cell Significance Index: 235.8200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 1.9075
    Cell Significance Index: -5.1100
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 1.6808
    Cell Significance Index: 10.7300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.6023
    Cell Significance Index: 103.3800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.5466
    Cell Significance Index: 41.3700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.9268
    Cell Significance Index: 42.0100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5336
    Cell Significance Index: 52.7800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4693
    Cell Significance Index: 423.7000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2454
    Cell Significance Index: 39.9100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1314
    Cell Significance Index: 25.0100
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 0.1197
    Cell Significance Index: 1.2000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1026
    Cell Significance Index: 11.1700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0576
    Cell Significance Index: 1.6600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0440
    Cell Significance Index: 27.4800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0100
    Cell Significance Index: 6.9500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0079
    Cell Significance Index: -1.5600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0080
    Cell Significance Index: -15.1500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0114
    Cell Significance Index: -8.4700
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0130
    Cell Significance Index: -0.1900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0141
    Cell Significance Index: -25.9300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0149
    Cell Significance Index: -0.3100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0175
    Cell Significance Index: -26.8800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0181
    Cell Significance Index: -10.2100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0204
    Cell Significance Index: -9.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0215
    Cell Significance Index: -0.7600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0220
    Cell Significance Index: -29.9200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0256
    Cell Significance Index: -0.6400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0274
    Cell Significance Index: -20.7800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0289
    Cell Significance Index: -15.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0303
    Cell Significance Index: -10.8800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0349
    Cell Significance Index: -25.5700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0363
    Cell Significance Index: -7.6500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0380
    Cell Significance Index: -24.1400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0579
    Cell Significance Index: -26.2800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0599
    Cell Significance Index: -12.0200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0614
    Cell Significance Index: -6.2700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0620
    Cell Significance Index: -10.5900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0714
    Cell Significance Index: -3.6100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0767
    Cell Significance Index: -1.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0794
    Cell Significance Index: -4.8700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0859
    Cell Significance Index: -1.8600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0937
    Cell Significance Index: -10.7300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0971
    Cell Significance Index: -1.3800
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1009
    Cell Significance Index: -1.7400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1010
    Cell Significance Index: -4.1400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1030
    Cell Significance Index: -7.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1099
    Cell Significance Index: -19.8100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1178
    Cell Significance Index: -15.1000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1182
    Cell Significance Index: -5.1400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1193
    Cell Significance Index: -3.8200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1489
    Cell Significance Index: -20.4500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1512
    Cell Significance Index: -10.6900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1608
    Cell Significance Index: -23.3700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1719
    Cell Significance Index: -19.6300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1775
    Cell Significance Index: -21.8200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1797
    Cell Significance Index: -23.2100
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: -0.1871
    Cell Significance Index: -1.0200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1938
    Cell Significance Index: -20.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2037
    Cell Significance Index: -23.7400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.2194
    Cell Significance Index: -13.1700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2234
    Cell Significance Index: -10.5000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2337
    Cell Significance Index: -6.5300
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.2442
    Cell Significance Index: -4.1500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2758
    Cell Significance Index: -21.1700
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: -0.2937
    Cell Significance Index: -0.9000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3142
    Cell Significance Index: -23.4200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3259
    Cell Significance Index: -25.8100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3273
    Cell Significance Index: -22.0100
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: -0.3407
    Cell Significance Index: -2.7600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3696
    Cell Significance Index: -22.7200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3717
    Cell Significance Index: -17.3300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3721
    Cell Significance Index: -23.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3947
    Cell Significance Index: -22.1500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3961
    Cell Significance Index: -8.4400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4042
    Cell Significance Index: -10.3900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4290
    Cell Significance Index: -22.3500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4412
    Cell Significance Index: -22.9200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4428
    Cell Significance Index: -23.2500
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.4543
    Cell Significance Index: -7.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4671
    Cell Significance Index: -20.6600
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.4690
    Cell Significance Index: -9.1700
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.4929
    Cell Significance Index: -4.6900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.5083
    Cell Significance Index: -7.6600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5498
    Cell Significance Index: -19.2600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5514
    Cell Significance Index: -20.8800
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.6026
    Cell Significance Index: -6.2500
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.6057
    Cell Significance Index: -8.4900

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** The WASP gene is a member of the Wiskott-Aldrich syndrome protein family, which consists of three members: WASP, WAVE2, and WAVE3. The WASP protein is a 56-kDa protein with a characteristic SH3 (Src homology 3) domain, which mediates its interaction with various signaling proteins. WASP is also a member of the WASP/WAVE family, which are GTPase-activating proteins (GAPs) for the small GTPases Cdc42 and Rac1. The WASP protein has been shown to interact with numerous proteins, including Arp2/3 complex, actin-binding proteins, and signaling molecules, to regulate actin filament dynamics. **Pathways and Functions** The WASP gene is involved in various cellular pathways, including: 1. **Actin cytoskeleton regulation**: WASP promotes actin filament formation and dynamics, which is essential for cell movement, shape changes, and intracellular signaling. 2. **Immune response**: WASP is expressed in immune cells, such as monocytes and dendritic cells, and regulates phagocytosis, cell migration, and antigen presentation. 3. **Phagocytic cup formation**: WASP regulates the formation of phagocytic cups, which are essential for the engulfment of pathogens and the presentation of antigens to T cells. 4. **Cell motility**: WASP regulates cell motility, including the formation of lamellipodia and stress fibers, which are essential for cell migration and invasion. 5. **Cytoskeleton organization**: WASP regulates the organization of the cytoskeleton, including the formation of actin filaments, microtubules, and intermediate filaments. **Clinical Significance** Mutations in the WASP gene have been linked to Wiskott-Aldrich syndrome, a rare X-linked recessive disorder characterized by: 1. **Eczema**: Atopic dermatitis, which is a chronic inflammatory skin disease. 2. **Thrombocytopenia**: A decrease in platelet count, which increases the risk of bleeding. 3. **Recurrent infections**: Immune dysfunction leads to recurrent infections, particularly with encapsulated bacteria. 4. **Hematological abnormalities**: Anemia, leukopenia, and thrombocytopenia are common features of Wiskott-Aldrich syndrome. In addition to Wiskott-Aldrich syndrome, WASP mutations have also been implicated in other diseases, including: 1. **Allergic diseases**: WASP has been implicated in the regulation of allergic responses, including asthma and atopic dermatitis. 2. **Cancer**: WASP has been shown to regulate cell migration and invasion in various types of cancer, including breast and lung cancer. 3. **Neurological disorders**: WASP has been implicated in the regulation of neuronal function and synaptic plasticity in various neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, the WASP gene plays a critical role in regulating the actin cytoskeleton and immune response, and its dysregulation has been implicated in various diseases, including Wiskott-Aldrich syndrome and other allergic and cancerous disorders.

Genular Protein ID: 1512919636

Symbol: WASP_HUMAN

Name: Wiskott-Aldrich syndrome protein

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8069912

Title: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.

PubMed ID: 8069912

DOI: 10.1016/0092-8674(94)90528-2

PubMed ID: 8001129

Title:

PubMed ID: 8001129

PubMed ID: 7753869

Title: Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

PubMed ID: 7753869

DOI: 10.1073/pnas.92.10.4706

PubMed ID: 10066431

Title: The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene.

PubMed ID: 10066431

DOI: 10.1006/bbrc.1999.0292

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 8625410

Title: Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.

PubMed ID: 8625410

DOI: 10.1016/s0092-8674(00)81050-8

PubMed ID: 8643625

Title: Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.

PubMed ID: 8643625

DOI: 10.1073/pnas.93.11.5615

PubMed ID: 9405671

Title: WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells.

PubMed ID: 9405671

DOI: 10.1073/pnas.94.26.14671

PubMed ID: 12235133

Title: Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott-Aldrich Syndrome protein.

PubMed ID: 12235133

DOI: 10.1074/jbc.m203346200

PubMed ID: 12769847

Title: Phosphorylation of the WASP-VCA domain increases its affinity for the Arp2/3 complex and enhances actin polymerization by WASP.

PubMed ID: 12769847

DOI: 10.1016/s1097-2765(03)00172-2

PubMed ID: 14707117

Title: Fyn and PTP-PEST-mediated regulation of Wiskott-Aldrich syndrome protein (WASp) tyrosine phosphorylation is required for coupling T cell antigen receptor engagement to WASp effector function and T cell activation.

PubMed ID: 14707117

DOI: 10.1084/jem.20030976

PubMed ID: 15592455

Title: Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.

PubMed ID: 15592455

DOI: 10.1038/nbt1046

PubMed ID: 18088087

Title: Phosphoproteome of resting human platelets.

PubMed ID: 18088087

DOI: 10.1021/pr0704130

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: 20574068

Title: Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome.

PubMed ID: 20574068

DOI: 10.1126/scitranslmed.3000813

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29925947

Title: Nuclear ARP2/3 drives DNA break clustering for homology-directed repair.

PubMed ID: 29925947

DOI: 10.1038/s41586-018-0237-5

PubMed ID: 10360578

Title: Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein.

PubMed ID: 10360578

DOI: 10.1038/20726

PubMed ID: 10724160

Title: Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein.

PubMed ID: 10724160

DOI: 10.1038/35004513

PubMed ID: 15235593

Title: Chemical inhibition of N-WASP by stabilization of a native autoinhibited conformation.

PubMed ID: 15235593

DOI: 10.1038/nsmb796

PubMed ID: 16275905

Title: Actin-bound structures of Wiskott-Aldrich syndrome protein (WASP)-homology domain 2 and the implications for filament assembly.

PubMed ID: 16275905

DOI: 10.1073/pnas.0507021102

PubMed ID: 17329259

Title: A hydrophobic pocket in the active site of glycolytic aldolase mediates interactions with Wiskott-Aldrich syndrome protein.

PubMed ID: 17329259

DOI: 10.1074/jbc.m611505200

PubMed ID: 18650809

Title: Structural mechanism of WASP activation by the enterohaemorrhagic E. coli effector EspF(U).

PubMed ID: 18650809

DOI: 10.1038/nature07160

PubMed ID: 8528198

Title: Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.

PubMed ID: 8528198

DOI: 10.1093/hmg/4.7.1119

PubMed ID: 8528199

Title: WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

PubMed ID: 8528199

DOI: 10.1093/hmg/4.7.1127

PubMed ID: 7795648

Title: X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

PubMed ID: 7795648

DOI: 10.1038/ng0495-414

PubMed ID: 8682510

Title: Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

PubMed ID: 8682510

DOI: 10.1007/s004390050162

PubMed ID: 9126958

Title: Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients.

PubMed ID: 9126958

PubMed ID: 9098856

Title: Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods.

PubMed ID: 9098856

DOI: 10.1203/00006450-199704000-00013

PubMed ID: 9683546

Title: Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.

PubMed ID: 9683546

DOI: 10.1006/clin.1998.4557

PubMed ID: 9713366

Title: Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.

PubMed ID: 9713366

DOI: 10.1002/(sici)1096-9896(199805)185:1<99::aid-path48>3.0.co;2-l

PubMed ID: 9445409

Title: X-linked Wiskott-Aldrich syndrome in a girl.

PubMed ID: 9445409

DOI: 10.1056/nejm199801293380504

PubMed ID: 11167787

Title: Missense C168T in the Wiskott-Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.

PubMed ID: 11167787

DOI: 10.1046/j.1365-2141.2001.02465.x

PubMed ID: 11242115

Title: Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.

PubMed ID: 11242115

DOI: 10.1038/85886

PubMed ID: 10447259

Title: Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

PubMed ID: 10447259

DOI: 10.1002/(sici)1098-1004(1999)14:1<54::aid-humu7>3.0.co;2-e

PubMed ID: 11877312

Title: Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

PubMed ID: 11877312

DOI: 10.1182/blood.v99.6.2268

PubMed ID: 11793485

Title: Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.

PubMed ID: 11793485

DOI: 10.1002/humu.9013

PubMed ID: 24115682

Title: Intermittent X-linked thrombocytopenia with a novel WAS gene mutation.

PubMed ID: 24115682

DOI: 10.1002/pbc.24787

PubMed ID: 26566883

Title: Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.

PubMed ID: 26566883

DOI: 10.1136/jmedgenet-2015-103179

Sequence Information:

  • Length: 502
  • Mass: 52913
  • Checksum: 7228428672B7CB78
  • Sequence:
  • MSGGPMGGRP GGRGAPAVQQ NIPSTLLQDH ENQRLFEMLG RKCLTLATAV VQLYLALPPG 
    AEHWTKEHCG AVCFVKDNPQ KSYFIRLYGL QAGRLLWEQE LYSQLVYSTP TPFFHTFAGD 
    DCQAGLNFAD EDEAQAFRAL VQEKIQKRNQ RQSGDRRQLP PPPTPANEER RGGLPPLPLH 
    PGGDQGGPPV GPLSLGLATV DIQNPDITSS RYRGLPAPGP SPADKKRSGK KKISKADIGA 
    PSGFKHVSHV GWDPQNGFDV NNLDPDLRSL FSRAGISEAQ LTDAETSKLI YDFIEDQGGL 
    EAVRQEMRRQ EPLPPPPPPS RGGNQLPRPP IVGGNKGRSG PLPPVPLGIA PPPPTPRGPP 
    PPGRGGPPPP PPPATGRSGP LPPPPPGAGG PPMPPPPPPP PPPPSSGNGP APPPLPPALV 
    PAGGLAPGGG RGALLDQIRQ GIQLNKTPGA PESSALQPPP QSSEGLVGAL MHVMQKRSRA 
    IHSSDEGEDQ AGDEDEDDEW DD

Genular Protein ID: 590689170

Symbol: A0A8V8TM35_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

Sequence Information:

  • Length: 590
  • Mass: 62770
  • Checksum: FDE87D436EC415F6
  • Sequence:
  • MSGGPMGGRP GGRGAPAVQQ NIPSTLLQDH ENQRLFEMLG RKCLTLATAV VQLYLALPPG 
    AEHWTKEHCG AVCFVKDNPQ KSYFIRLYGL QAGRLLWEQE LYSQLVYSTP TPFFHTFAGD 
    DCQAGLNFAD EDEAQAFRAL VQEKIQKRNQ RQSGDRRQLP PPPTPANEER RGGLPPLPLH 
    PGGDQGGPPV GPLSLGLATV DIQNPDITSS RYRGLPAPGP SPADKKRSGK KKISKADIGA 
    PSGFKHVSHV GWDPQNGFDV NNLDPDLRSL FSRAGISEAQ LTDAETSKLI YDFIEDQGGL 
    EAVRQEMRRQ EPLPPPPPPS RGGNQLPRPP IVGGNKGRSG PLPPVPLGIA PPPPTPRGPP 
    PPGRGGPPPP PPPATGRSGP LPPPPPGAGG PPMPPPPPPP PPPPSSGNGP APPPLPPALV 
    PAGGLAPGGG RGALLDQIRQ GIQLNKTPGA PESSALQPPP QSSEGLVGAL MHVMQKRSRA 
    IHSSGSRSVS QAGVQWCNHG SVQPQPPRLK RSSRLSSQSS WDYRRVPPYL ANFWCFFGSD 
    ELSLPSSHYS HVAQAALQLQ GSSDLPRLSL PECWDYRHEP PGLAVNLIFL

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.