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RNF5 |
ring finger protein 5 |
- ABC-family proteins mediated transport
- Defective CFTR causes cystic fibrosis
- ER Quality Control Compartment (ERQC)
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SLC4A7 |
solute carrier family 4 member 7 |
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SLC4A8 |
solute carrier family 4 member 8 |
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SLC9A3R1 |
SLC9A3 regulator 1 |
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- Nephrolithiasis/osteoporosis, hypophosphatemic
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SLC9A3R2 |
SLC9A3 regulator 2 |
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SLC9A6 |
solute carrier family 9 member A6 |
- Sodium/Proton exchangers
- Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
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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)
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SNAP23 |
synaptosome associated protein 23 |
- ER-Phagosome pathway
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- trans-Golgi Network Vesicle Budding
- Neutrophil degranulation
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STUB1 |
STIP1 homology and U-box containing protein 1 |
- Downregulation of TGF-beta receptor signaling
- RIPK1-mediated regulated necrosis
- Regulation of necroptotic cell death
- Downregulation of ERBB2 signaling
- Regulation of RUNX2 expression and activity
- Regulation of PTEN stability and activity
- Antigen processing: Ubiquitination & Proteasome degradation
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STX1A |
syntaxin 1A |
- Serotonin Neurotransmitter Release Cycle
- Norepinephrine Neurotransmitter Release Cycle
- Glutamate Neurotransmitter Release Cycle
- Dopamine Neurotransmitter Release Cycle
- Acetylcholine Neurotransmitter Release Cycle
- Insulin processing
- Regulation of insulin secretion
- Other interleukin signaling
- Toxicity of botulinum toxin type C (botC)
- LGI-ADAM interactions
- Neurexins and neuroligins
- GABA synthesis, release, reuptake and degradation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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UBE2I |
ubiquitin conjugating enzyme E2 I |
- Meiotic synapsis
- Vitamin D (calciferol) metabolism
- SUMO is transferred from E1 to E2 (UBE2I, UBC9)
- SUMO is transferred from E1 to E2 (UBE2I, UBC9)
- SUMOylation of DNA damage response and repair proteins
- SUMO E3 ligases SUMOylate target proteins
- SUMOylation of transcription factors
- SUMOylation of transcription factors
- SUMOylation of ubiquitinylation proteins
- SUMOylation of transcription cofactors
- SUMOylation of transcription cofactors
- SUMOylation of SUMOylation proteins
- SUMOylation of intracellular receptors
- SUMOylation of intracellular receptors
- SUMOylation of chromatin organization proteins
- SUMOylation of chromatin organization proteins
- SUMOylation of RNA binding proteins
- SUMOylation of DNA replication proteins
- SUMOylation of DNA replication proteins
- SUMOylation of DNA methylation proteins
- SUMOylation of DNA methylation proteins
- SUMOylation of immune response proteins
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Processing of DNA double-strand break ends
- Formation of Incision Complex in GG-NER
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- Postmitotic nuclear pore complex (NPC) reformation
- Maturation of nucleoprotein
- Maturation of nucleoprotein
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