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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]

 Comments

Property Summary

NCBI Gene PubMed Count 58
PubMed Score 200.12
PubTator Score 71.97

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Cataract 290
Abnormal behavior 51
Abnormal cortical bone morphology 21
Abnormal skeletal development 60
Abnormality of cranial vault shape 5
Abnormality of cranium shape 5
Abnormality of head shape 5
Abnormality of metabolism/homeostasis 133
Abnormality of retinal pigmentation 109
Abnormality of the hairline 1
Abnormality of the liver 21
Abnormality of the palate 17
Addison Disease 18
Adrenal cortical hypofunction 23
Adrenoleukodystrophy, Neonatal 13
Anteverted nostril 186
Asymmetry of head 5
Big calvaria 147
Bilateral single transverse palmar creases 34
Blepharoptosis 229
Broad flat nasal bridge 232
Byzanthine arch palate 194
Central hypotonia 5
Central nervous system demyelination 28
Cerebellar Ataxia 302
Cerebral atrophy 175
Cholelithiasis 33
Chorioretinal abnormality 21
Clouding of corneal stroma 49
Cognitive delay 596
Concave bridge of nose 191
Congenital Epicanthus 175
Corneal Opacity 52
Cranial asymmetry 5
Cryptorchidism 287
Death in early childhood 82
Death in infancy 82
Decreased to absent deep tendon reflexes 42
Degenerative brain disorder 98
Delayed closure of the soft spot on the skull 10
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Developmental regression 94
Difficulties with night vision 85
Electroencephalogram abnormal 100
Elevated hepatic transaminases 79
Elevated levels of phytanic acid 15
Elevated long chain fatty acids 4
Embryotoxon 28
Epilepsy 775
Failure to gain weight 359
Feeding difficulties in infancy 174
Flat back of the head 26
Flat face 51
Flat occiput 26
Global developmental delay 596
Global developmental delay, severe 47
Growth delay 112
Growth failure 112
Growth retardation 113
Hepatic enzyme increased 79
Hepatomegaly 280
High forehead 101
Hydronephrosis 87
Hyperreflexia 208
Hypertrophy of clitoris 38
Hypoplastic mandible condyle 273
Hypotonia, severe 33
Icterus 81
Impaired cognition 95
Increased bilirubin level (finding) 18
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infantile Refsum Disease (disorder) 13
Late closure of anterior fontanel 10
Lens Opacities 227
Liver Dysfunction 97
Liver Failure 72
Liver diseases 85
Liver enzymes abnormal 79
Liver function test increased 79
Liver function tests abnormal finding 79
Long narrow head 75
Loss of developmental milestones 94
Low Vision 167
Low-set, posteriorly rotated ears 109
Major Depressive Disorder 293
Malabsorption 81
Malformation of cranial vault shape 5
Malformation of cranium shape 5
Malformation of head shape 5
Malformations of Cortical Development, Group II 30
Malformed pinnae 36
Mandibular hypoplasia 273
Mental and motor retardation 596
Mental deterioration in childhood 94
Mental impairment 95
Micrognathism 273
Movement Disorders 54
Multicystic Dysplastic Kidney 51
Muscle Spasticity 192
Muscle hypotonia 562
Muscle weakness, progressive 22
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 232
Neurodevelopmental regression 94
Night Blindness 99
Nystagmus 309
Optic Atrophy 239
Osteochondrodysplasias 72
Pediatric failure to thrive 359
Penile hypospadias 102
Polymicrogyria 48
Poor growth 112
Posterior embryotoxon 28
Premature Birth 76
Premature birth of newborn 67
Profound global developmental delay 17
Psychomotor regression 94
Psychomotor regression beginning in infancy 94
Psychomotor regression in infants 94
Psychomotor regression, progressive 94
Psychomotor retardation, profound 17
Pyloric Stenosis 47
Renal tubular disorder 11
Respiratory Insufficiency 130
Respiratory function loss 119
Retinal pigment epithelial abnormality 109
Retinitis Pigmentosa 223
Schizophrenia 1136
Seizures 584
Sensorineural Hearing Loss (disorder) 281
Severe psychomotor retardation 47
Short stature 514
Small head 366
Stippled epiphyses 28
Strabismus 265
Subclinical abnormal liver function tests 79
Supratentorial atrophy 93
Tall forehead 101
Transaminases increased 79
Triangular face 57
Turridolichocephaly 75
Underdeveloped brows 37
Underdeveloped supraorbital ridges 37
Unipolar Depression 244
Upward slant of palpebral fissure 74
Very long chain fatty acid accumulation 13
Very poor growth 112
Visual Impairment 167
Visual field constriction 35
Wide anterior fontanel 44
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.5
Disease Target Count Z-score Confidence
Peroxisomal disease 22 0.0 4.0

Expression

  Differential Expression (6)

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

Synonym

Accession P40855 D3DVE7 Q5QNY4 Q8NI97
Symbols PXF
HK33
PMP1
PMPI
PXMP1
PBD12A
D1S2223E

Gene

PEX19

PANTHER Protein Class (1)

PDB

2W85   2WL8   3AJB   3MK4   5LNF  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (15)

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 GO Function (3)

 GO Component (9)

 GO Process (11)

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 Compartment GO Term (51)

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 OMIM Phenotype (1)

 GWAS Trait (1)

 HCA RNA Cell Line (56)

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Pathway (4)

Protein-protein Interaction (53)

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  

Gene RIF (26)

AA Sequence 

MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPPSTTTAPDASGPQKRSPGDTAKDALFASQEKF      1 - 70
FQELFDSELASQATAEFEKAMKELAEEEPHLVEQFQKLSEAAGRVGSDMTSQQEFTSCLKETLSGLAKNA     71 - 140
TDLQNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQNLLSKDVLYPSLKEITEKYPEWLQSHRESL    141 - 210
PPEQFEKYQEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDL    211 - 280
DALNLSGPPGASGEQCLIM                                                       281 - 299
//

Text Mined References (63)

PMID Year Title