Tbio | Peroxisomal biogenesis factor 19 |
Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.
This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Comments
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Zellweger syndrome | 37 | 4.546 | 2.3 |
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) | 1 | 0.0 | 0.0 |
Peroxisome biogenesis disorders | 11 | 0.0 | 0.0 |
Disease | Target Count | P-value |
---|---|---|
pituitary cancer | 1972 | 9.4e-08 |
osteosarcoma | 7950 | 9.9e-06 |
psoriasis | 6694 | 7.4e-04 |
pancreatic ductal adenocarcinoma liver metastasis | 1962 | 1.8e-03 |
intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 6.6e-03 |
fibroadenoma | 559 | 5.0e-02 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Peroxisomal disease | 22 | 0.0 | 4.0 |
Disease | log2 FC | p |
---|---|---|
fibroadenoma | -1.200 | 5.0e-02 |
intraductal papillary-mucinous neoplasm ... | 1.100 | 6.6e-03 |
osteosarcoma | 1.574 | 9.9e-06 |
pancreatic ductal adenocarcinoma liver m... | -1.087 | 1.8e-03 |
pituitary cancer | 1.100 | 9.4e-08 |
psoriasis | -1.100 | 7.4e-04 |
Species | Source | Disease |
---|---|---|
Inparanoid OMA EggNOG | ||
OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid EggNOG | ||
Inparanoid OMA EggNOG |
ASPM
MYO1D
MYO5C
MYO5B
MYO5A
PXMP2
CHSY1
HSD17B11
MGAT2
ATP13A2
FAR2
FAM20B
IQGAP3
EXOG
GLCE
CMSS1
MANEAL
EXD2
EXT1
RHOT1
PEX3
HINT3
CENPP
TMTC4
CYC1
SOAT1
MOSPD2
GALNT2
PNKD
HS2ST1
MUL1
LETMD1
PTOV1
QPCTL
FAF2
C3orf33
GLB1L2
SCCPDH
UXS1
RDH12
TTF2
SELENON
ABHD12
SELENOT
MARC2
GALNT16
B3GALT6
MRPL20
NAT14
PLD6
PEX16
HIGD2A
CHST7
MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPPSTTTAPDASGPQKRSPGDTAKDALFASQEKF 1 - 70 FQELFDSELASQATAEFEKAMKELAEEEPHLVEQFQKLSEAAGRVGSDMTSQQEFTSCLKETLSGLAKNA 71 - 140 TDLQNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQNLLSKDVLYPSLKEITEKYPEWLQSHRESL 141 - 210 PPEQFEKYQEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDL 211 - 280 DALNLSGPPGASGEQCLIM 281 - 299 //