| Novel |
ARCN1
|
archain 1 coat protein complex I subunit delta |
- COPI-mediated anterograde transport
- COPI-dependent Golgi-to-ER retrograde traffic
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| Novel |
CBL
|
Cbl proto-oncogene |
- Interleukin-6 signaling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Spry regulation of FGF signaling
- Regulation of KIT signaling
- EGFR downregulation
- TGF-beta receptor signaling activates SMADs
- Constitutive Signaling by EGFRvIII
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Negative regulation of MET activity
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- Signaling by CSF1 (M-CSF) in myeloid cells
- Negative regulation of FLT3
- FLT3 signaling by CBL 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)
|
| Novel |
DPAGT1
|
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
- Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
- Defective DPAGT1 causes CDG-1j, CMSTA2
|
|
- Congenital disorders of glycosylation (CDG) type I
|
| Novel |
MRE11
|
MRE11 double strand break repair nuclease |
- Cytosolic sensors of pathogen-associated DNA
- DNA Damage/Telomere Stress Induced Senescence
- IRF3-mediated induction of type I IFN
- HDR through Single Strand Annealing (SSA)
- HDR through MMEJ (alt-NHEJ)
- 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
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Meiotic recombination
- Defective homologous recombination repair (HRR) due to BRCA1 loss of function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
- Impaired BRCA2 binding to RAD51
- Impaired BRCA2 binding to PALB2
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|
- 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)
- 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
|
| Novel |
PLS3
|
plastin 3 |
|
|
|
| Novel |
TLK1
|
tousled like kinase 1 |
|
|
|
|
CXCL13
|
C-X-C motif chemokine ligand 13 |
- Chemokine receptors bind chemokines
- G alpha (i) signalling events
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