| Novel |
ADGRA1
|
adhesion G protein-coupled receptor A1 |
|
|
|
| Novel |
ARF5
|
ARF GTPase 5 |
- COPI-mediated anterograde transport
- COPI-dependent Golgi-to-ER retrograde traffic
|
|
|
| Novel |
MKRN2
|
makorin ring finger protein 2 |
|
|
|
| Novel |
OSBPL3
|
oxysterol binding protein like 3 |
- Synthesis of bile acids and bile salts
|
|
|
| Novel |
PTF1A
|
pancreas associated transcription factor 1a |
- Regulation of gene expression in early pancreatic precursor cells
- Developmental Lineage of Pancreatic Acinar Cells
|
|
- Permanent neonatal diabetes mellitus (PNDM)
|
| Novel |
TACR3
|
tachykinin receptor 3 |
- Tachykinin receptors bind tachykinins
- G alpha (q) signalling events
|
- Osanetant
- Talnetant
- Pavinetant
|
- Hypogonadotropic hypogonadism; Kallmann syndrome (KAL)
|
|
AATF
|
apoptosis antagonizing transcription factor |
- NRAGE signals death through JNK
|
|
|
|
ABCA1
|
ATP binding cassette subfamily A member 1 |
- PPARA activates gene expression
- Defective ABCA1 causes TGD
- HDL assembly
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
|
|
- Tangier disease
- Hypoalphalipoproteinemia
|
|
ARHGAP18
|
Rho GTPase activating protein 18 |
- RHOA GTPase cycle
- RHOC GTPase cycle
|
|
|
|
DIS3
|
DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease |
- 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
- Nuclear RNA decay
|
|
|
|
DNM2
|
dynamin 2 |
- Toll Like Receptor 4 (TLR4) Cascade
- Retrograde neurotrophin signalling
- Gap junction degradation
- Formation of annular gap junctions
- NOSTRIN mediated eNOS trafficking
- MHC class II antigen presentation
- Lysosome Vesicle Biogenesis
- Golgi Associated Vesicle Biogenesis
- Recycling pathway of L1
- Clathrin-mediated endocytosis
- NGF-stimulated transcription
- Degradation of CDH1
|
|
- Centronuclear myopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
|
|
DYNLRB1
|
dynein light chain roadblock-type 1 |
|
|
|
|
EIF3G
|
eukaryotic translation initiation factor 3 subunit G |
- 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
|
|
|
|
EXOSC10
|
exosome component 10 |
- Major pathway of rRNA processing in the nucleolus and cytosol
- Nuclear RNA decay
|
|
|
|
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
- Nuclear RNA decay
|
|
|
|
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
- Nuclear RNA decay
|
|
|
|
EXOSC5
|
exosome component 5 |
- 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
- Nuclear RNA decay
|
|
|
|
EXOSC6
|
exosome component 6 |
- 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
- Nuclear RNA decay
|
|
|
|
EXOSC7
|
exosome component 7 |
- 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
- Nuclear RNA decay
|
|
|
|
EXOSC8
|
exosome component 8 |
- 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
- Nuclear RNA decay
|
|
|