| ABHD16A |
abhydrolase domain containing 16A, phospholipase |
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| ACRV1 |
acrosomal vesicle protein 1 |
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| ACSS2 |
acyl-CoA synthetase short chain family member 2 |
- Transcriptional activation of mitochondrial biogenesis
- Ethanol oxidation
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- Adenosine monophosphate
- ATP
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| AP1G1 |
adaptor related protein complex 1 subunit gamma 1 |
- Nef mediated downregulation of MHC class I complex cell surface expression
- MHC class II antigen presentation
- Lysosome Vesicle Biogenesis
- Golgi Associated Vesicle Biogenesis
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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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| CNN1 |
calponin 1 |
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| CSNK2B |
casein kinase 2 beta |
- Synthesis of PC
- WNT mediated activation of DVL
- Condensation of Prometaphase Chromosomes
- Signal transduction by L1
- Neutrophil degranulation
- Regulation of TP53 Activity through Phosphorylation
- Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
- Receptor Mediated Mitophagy
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of PTEN stability and activity
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| DCP1A |
decapping mRNA 1A |
- mRNA decay by 5' to 3' exoribonuclease
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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| DCP2 |
decapping mRNA 2 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- mRNA decay by 5' to 3' exoribonuclease
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
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| DHPS |
deoxyhypusine synthase |
- Hypusine synthesis from eIF5A-lysine
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- 1-Guanidinium-7-Aminoheptane
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| DXO |
decapping exoribonuclease |
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| EIF3A |
eukaryotic translation initiation factor 3 subunit A |
- L13a-mediated translational silencing of Ceruloplasmin expression
- Translation initiation complex formation
- Formation of a pool of free 40S subunits
- Formation of the ternary complex, and subsequently, the 43S complex
- Ribosomal scanning and start codon recognition
- GTP hydrolysis and joining of the 60S ribosomal subunit
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| EIF3B |
eukaryotic translation initiation factor 3 subunit B |
- L13a-mediated translational silencing of Ceruloplasmin expression
- Translation initiation complex formation
- Formation of a pool of free 40S subunits
- Formation of the ternary complex, and subsequently, the 43S complex
- Ribosomal scanning and start codon recognition
- GTP hydrolysis and joining of the 60S ribosomal subunit
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| EIF4A3 |
eukaryotic translation initiation factor 4A3 |
- ISG15 antiviral mechanism
- Transport of Mature mRNA derived from an Intron-Containing Transcript
- Deadenylation of mRNA
- mRNA Splicing - Major Pathway
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
- Regulation of expression of SLITs and ROBOs
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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| EXOSC2 |
exosome component 2 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- mRNA decay by 3' to 5' exoribonuclease
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- Major pathway of rRNA processing in the nucleolus and cytosol
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| EXOSC4 |
exosome component 4 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- mRNA decay by 3' to 5' exoribonuclease
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- Major pathway of rRNA processing in the nucleolus and cytosol
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| GNPTG |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
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- Mucolipidosis II and III, including: Mucolipidosis II / I-cell disease; Mucolipidosis III A / Pseudo-Hurler polydystrophy; Mucolipidosis III C
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| HIRA |
histone cell cycle regulator |
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
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| LDB1 |
LIM domain binding 1 |
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Regulation of expression of SLITs and ROBOs
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| LSM8 |
LSM8 homolog, U6 small nuclear RNA associated |
- mRNA Splicing - Major Pathway
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| NADSYN1 |
NAD synthetase 1 |
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| NDRG1 |
N-myc downstream regulated 1 |
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
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- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
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| NDUFB10 |
NADH:ubiquinone oxidoreductase subunit B10 |
- Respiratory electron transport
- Complex I biogenesis
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| NOTCH3 |
notch receptor 3 |
- Pre-NOTCH Processing in the Endoplasmic Reticulum
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Processing in Golgi
- Pre-NOTCH Processing in Golgi
- Notch-HLH transcription pathway
- Defective LFNG causes SCDO3
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- Noncanonical activation of NOTCH3
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- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
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| PLEKHA5 |
pleckstrin homology domain containing A5 |
- Synthesis of PIPs at the plasma membrane
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| PLEKHB2 |
pleckstrin homology domain containing B2 |
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| POLR2A |
RNA polymerase II subunit A |
- Formation of RNA Pol II elongation complex
- Formation of the Early Elongation Complex
- Formation of HIV elongation complex in the absence of HIV Tat
- Formation of the HIV-1 Early Elongation Complex
- RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
- HIV Transcription Initiation
- RNA Polymerase II HIV Promoter Escape
- Transcription of the HIV genome
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Pausing and recovery of Tat-mediated HIV elongation
- Abortive elongation of HIV-1 transcript in the absence of Tat
- Tat-mediated HIV elongation arrest and recovery
- Tat-mediated elongation of the HIV-1 transcript
- HIV elongation arrest and recovery
- Pausing and recovery of HIV elongation
- Viral Messenger RNA Synthesis
- MicroRNA (miRNA) biogenesis
- Transcriptional regulation by small RNAs
- PIWI-interacting RNA (piRNA) biogenesis
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RNA Polymerase II Pre-transcription Events
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- TP53 Regulates Transcription of DNA Repair Genes
- FGFR2 alternative splicing
- RNA polymerase II transcribes snRNA genes
- RNA polymerase II transcribes snRNA genes
- mRNA Capping
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
- Processing of Capped Intron-Containing Pre-mRNA
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase II Transcription Initiation
- RNA Polymerase II Transcription Elongation
- RNA Polymerase II Transcription Initiation And Promoter Clearance
- RNA Pol II CTD phosphorylation and interaction with CE
- Signaling by FGFR2 IIIa TM
- Estrogen-dependent gene expression
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| RHOXF2 |
Rhox homeobox family member 2 |
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| RPRD2 |
regulation of nuclear pre-mRNA domain containing 2 |
- RNA polymerase II transcribes snRNA genes
- RNA polymerase II transcribes snRNA genes
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| SMG1 |
SMG1 nonsense mediated mRNA decay associated PI3K related kinase |
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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| SMG5 |
SMG5 nonsense mediated mRNA decay factor |
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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| STAU1 |
staufen double-stranded RNA binding protein 1 |
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| UPF2 |
UPF2 regulator of nonsense mediated mRNA decay |
- Regulation of expression of SLITs and ROBOs
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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| UPF3A |
UPF3A regulator of nonsense mediated mRNA decay |
- Regulation of expression of SLITs and ROBOs
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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| UPF3B |
UPF3B regulator of nonsense mediated mRNA decay |
- Transport of Mature mRNA derived from an Intron-Containing Transcript
- mRNA Splicing - Major Pathway
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
- Regulation of expression of SLITs and ROBOs
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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- Syndromic X-linked mental retardation, including: Turner type (MRXST); Siderius type (MRXSSD) ; Cabezas type (MRXC); Raymond type (MRXSR); Type10 (MRXS10); Type14 (MRXS14); Mental retardation with isolated growth hormone deficiency (MRGH)
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| XRN1 |
5'-3' exoribonuclease 1 |
- mRNA decay by 5' to 3' exoribonuclease
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
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