AlphaFold predicted structure
WAS · P42768
Mean pLDDT
69.4/ 100
Low
502 residues
Confidence breakdown
- Very high(≥ 90)24%
- Confident(70–90)27%
- Low(50–70)26%
- Very low(< 50)24%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
WAS
Chr Xp11.23WASP actin nucleation promoting factor
- Aliases:
- WASP, WASPA
- MANE:
- ENST00000376701.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bleeding and platelet disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesCOVID-19 research
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesCytopenia - NOT Fanconi anaemia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesCytopenias and congenital anaemias
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesGastrointestinal epithelial barrier disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Haematological malignancies cancer susceptibility
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Haematological malignancies for rare disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Infantile enterocolitis & monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Disease associations (Open Targets)
Wiskott-Aldrich syndrome
0.85thrombocytopenia 1
0.80X-linked severe congenital neutropenia
0.80X-linked thrombocytopenia with normal platelets
0.76Thrombocytopenia
0.57hereditary thrombocytopenia with normal platelets
0.55lymphoma
0.47severe congenital neutropenia
0.47hereditary disease
0.41melanoma
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Mitochondrial-derived peptide MOTS-c
Regulates insulin sensitivity and metabolic homeostasis (PubMed:25738459, PubMed:33468709). Inhibits the folate cycle, thereby reducing de novo purine biosynthesis which leads to the accumulation of the de novo purine synthesis intermediate 5-aminoimidazole-4-carboxamide (AICAR) and the activation of the metabolic regulator 5'-AMP-activated protein kinase (AMPK) (PubMed:25738459). Protects against age-dependent and diet-induced insulin resistance as well as diet-induced obesity (PubMed:25738459). In response to metabolic stress, translocates to the nucleus where it binds to antioxidant response elements (ARE) present in the promoter regions of a number of genes and plays a role in regulating nuclear gene expression in an NFE2L2-dependent manner and increasing cellular resistance to metabolic stress (PubMed:29983246). Increases mitochondrial respiration and levels of CPT1A and cytokines IL1B, IL6, IL8, IL10 and TNF in senescent cells (PubMed:29886458). Increases activity of the serine/threonine protein kinase complex mTORC2 and reduces activity of the PTEN phosphatase, thus promoting phosphorylation of AKT (PubMed:33554779). This promotes AKT-mediated phosphorylation of transcription factor FOXO1 which reduces FOXO1 activity, leading to reduced levels of MSTN and promotion of skeletal muscle growth (PubMed:33554779). Promotes osteogenic differentiation of bone marrow mesenchymal stem cells via the TGFB/SMAD pathway (PubMed:30468456). Promotes osteoblast proliferation and osteoblast synthesis of type I collagens COL1A1 and COL1A2 via the TGFB/SMAD pathway (PubMed:31081069)
Diseases associated with WAS
Curated MONDO disease pages that list WAS among their top associated genes.