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APPL1 |
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 |
- Caspase activation via Dependence Receptors in the absence of ligand
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APTX |
aprataxin |
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- Coenzyme Q10 deficiency
- Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
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ARAF |
A-Raf proto-oncogene, serine/threonine kinase |
- RAF activation
- MAP2K and MAPK activation
- Negative regulation of MAPK pathway
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by MRAS-complex mutants
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- Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
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ARID1A |
AT-rich interaction domain 1A |
- RMTs methylate histone arginines
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
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ARID3A |
AT-rich interaction domain 3A |
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
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ARIH2 |
ariadne RBR E3 ubiquitin protein ligase 2 |
- Antigen processing: Ubiquitination & Proteasome degradation
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ARL3 |
ADP ribosylation factor like GTPase 3 |
- Trafficking of myristoylated proteins to the cilium
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- 2-(N-morpholino)ethanesulfonic acid
- Guanosine-5'-Diphosphate
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ARNT |
aryl hydrocarbon receptor nuclear translocator |
- Regulation of gene expression by Hypoxia-inducible Factor
- PPARA activates gene expression
- Phase I - Functionalization of compounds
- Endogenous sterols
- Xenobiotics
- Aryl hydrocarbon receptor signalling
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ASH2L |
ASH2 like, histone lysine methyltransferase complex subunit |
- Formation of the beta-catenin:TCF transactivating complex
- PKMTs methylate histone lysines
- Deactivation of the beta-catenin transactivating complex
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
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ATF3 |
activating transcription factor 3 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
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ATM |
ATM serine/threonine kinase |
- DNA Damage/Telomere Stress Induced Senescence
- Regulation of HSF1-mediated heat shock response
- Autodegradation of the E3 ubiquitin ligase COP1
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Sensing of DNA Double Strand Breaks
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- TP53 Regulates Transcription of DNA Repair Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 Regulates Transcription of Caspase Activators and Caspases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- G2/M DNA damage checkpoint
- Stabilization of p53
- Meiotic recombination
- Pexophagy
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- Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome
- DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
- Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
- Chronic lymphocytic leukemia (CLL)
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ATR |
ATR serine/threonine kinase |
- Meiotic synapsis
- Activation of ATR in response to replication stress
- Regulation of HSF1-mediated heat shock response
- HDR through Single Strand Annealing (SSA)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Fanconi Anemia Pathway
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
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- Alveolar rhabdomyosarcoma
- Seckel syndrome
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ATRX |
ATRX chromatin remodeler |
- Inhibition of DNA recombination at telomere
- Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
- Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations
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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
- Non-syndromic X-linked mental retardation
- 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
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ATXN3 |
ataxin 3 |
- Josephin domain DUBs
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
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- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
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AURKA |
aurora kinase A |
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Regulation of PLK1 Activity at G2/M Transition
- SUMOylation of DNA replication proteins
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Regulation of TP53 Activity through Phosphorylation
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- AURKA Activation by TPX2
- Interaction between PHLDA1 and AURKA
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- Phosphonothreonine
- AT9283
- CYC116
- Alisertib
- SNS-314
- Cenisertib
- Enzastaurin
- 4-(4-METHYLPIPERAZIN-1-YL)-N-[5-(2-THIENYLACETYL)-1,5-DIHYDROPYRROLO[3,4-C]PYRAZOL-3-YL]BENZAMIDE
- AKI-001
- 1-{5-[2-(thieno[3,2-d]pyrimidin-4-ylamino)ethyl]-1,3-thiazol-2-yl}-3-[3-(trifluoromethyl)phenyl]urea
- 1-(5-{2-[(1-methyl-1H-pyrazolo[4,3-d]pyrimidin-7-yl)amino]ethyl}-1,3-thiazol-2-yl)-3-[3-(trifluoromethyl)phenyl]urea
- N-{3-[(4-{[3-(TRIFLUOROMETHYL)PHENYL]AMINO}PYRIMIDIN-2-YL)AMINO]PHENYL}CYCLOPROPANECARBOXAMIDE
- N-butyl-3-{[6-(9H-purin-6-ylamino)hexanoyl]amino}benzamide
- 2-(1H-pyrazol-3-yl)-1H-benzimidazole
- N-[3-(1H-BENZIMIDAZOL-2-YL)-1H-PYRAZOL-4-YL]BENZAMIDE
- Fostamatinib
- MLN8054
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AXIN1 |
axin 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- TCF dependent signaling in response to WNT
- Degradation of AXIN
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Signaling by GSK3beta mutants
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- Ub-specific processing proteases
- RUNX1 regulates estrogen receptor mediated transcription
- RUNX1 regulates transcription of genes involved in WNT signaling
- Estrogen-dependent gene expression
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- Hepatocellular carcinoma
- Caudal duplication anomaly
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BAG5 |
BAG cochaperone 5 |
- Regulation of HSF1-mediated heat shock response
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BAG6 |
BAG cochaperone 6 |
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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BAIAP2L1 |
BAR/IMD domain containing adaptor protein 2 like 1 |
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BAK1 |
BCL2 antagonist/killer 1 |
- Activation and oligomerization of BAK protein
- Release of apoptotic factors from the mitochondria
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