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Novel |
AREL1 |
apoptosis resistant E3 ubiquitin protein ligase 1 |
- Antigen processing: Ubiquitination & Proteasome degradation
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Novel |
CTSW |
cathepsin W |
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Novel |
EIF2B2 |
eukaryotic translation initiation factor 2B subunit beta |
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- Leukoencephalopathy with vanishing white matter; Vanishing white matter disease; Childhood ataxia with diffuse central nervous system hypomyelination (CACH); Cree leukoencephalopathy (CLE)
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Novel |
EOLA1 |
endothelium and lymphocyte associated ASCH domain 1 |
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Novel |
PDIA6 |
protein disulfide isomerase family A member 6 |
- XBP1(S) activates chaperone genes
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
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Novel |
SCNN1A |
sodium channel epithelial 1 subunit alpha |
- Stimuli-sensing channels
- Sensory perception of salty taste
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- Bronchiectasis with or without elevated sweat chloride
- Hyperkalemic distal renal tubular acidosis (RTA type 4), including the following two diseases: Pseudohypoaldosteronism type I (PHA1); Pseudohypoaldosteronism type II (Gordon's syndrome)
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Novel |
SCRN1 |
secernin 1 |
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Novel |
SSR1 |
signal sequence receptor subunit 1 |
- SRP-dependent cotranslational protein targeting to membrane
- XBP1(S) activates chaperone genes
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Novel |
TMED10 |
transmembrane p24 trafficking protein 10 |
- COPII-mediated vesicle transport
- Cargo concentration in the ER
- COPI-mediated anterograde transport
- COPI-dependent Golgi-to-ER retrograde traffic
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Novel |
VASH1 |
vasohibin 1 |
- Carboxyterminal post-translational modifications of tubulin
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BARD1 |
BRCA1 associated RING domain 1 |
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- UCH proteinases
- Metalloprotease DUBs
- 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
- Defective DNA double strand break response due to BRCA1 loss of function
- Defective DNA double strand break response due to BARD1 loss of function
- 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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BRCA1 |
BRCA1 DNA repair associated |
- Meiotic synapsis
- SUMOylation of DNA damage response and repair proteins
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Metalloprotease DUBs
- 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
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Neddylation
- Transcriptional Regulation by E2F6
- Meiotic recombination
- Defective DNA double strand break response due to BRCA1 loss of function
- Defective DNA double strand break response due to BARD1 loss of function
- 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
- KEAP1-NFE2L2 pathway
- Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
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- Ovarian cancer
- Breast cancer
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DHDDS |
dehydrodolichyl diphosphate synthase subunit |
- Synthesis of dolichyl-phosphate
- Defective DHDDS causes RP59
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ECT2 |
epithelial cell transforming 2 |
- NRAGE signals death through JNK
- G alpha (12/13) signalling events
- RHOA GTPase cycle
- RHOB GTPase cycle
- CDC42 GTPase cycle
- RAC1 GTPase cycle
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ERRFI1 |
ERBB receptor feedback inhibitor 1 |
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LIG4 |
DNA ligase 4 |
- 2-LTR circle formation
- Nonhomologous End-Joining (NHEJ)
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- 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
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PAXIP1 |
PAX interacting protein 1 |
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Nonhomologous End-Joining (NHEJ)
- Formation of WDR5-containing histone-modifying complexes
- Epigenetic regulation of gene expression by MLL3 and MLL4 complexes
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
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TRIM14 |
tripartite motif containing 14 |
- Interferon gamma signaling
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USP4 |
ubiquitin specific peptidase 4 |
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- TNFR1-induced NF-kappa-B signaling pathway
- Ub-specific processing proteases
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