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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 297
Abnormal behavior 52
Abnormal cortical bone morphology 22
Abnormal skeletal development 60
Abnormality of cranial vault shape 5
Abnormality of cranium shape 5
Abnormality of head shape 5
Abnormality of metabolism/homeostasis 134
Abnormality of retinal pigmentation 111
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 191
Asymmetry of head 5
Big calvaria 147
Bilateral single transverse palmar creases 34
Blepharoptosis 231
Broad flat nasal bridge 236
Byzanthine arch palate 194
Central hypotonia 5
Central nervous system demyelination 28
Cerebellar Ataxia 304
Cerebral atrophy 178
Cholelithiasis 33
Chorioretinal abnormality 21
Clouding of corneal stroma 50
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Corneal Opacity 53
Cranial asymmetry 5
Cryptorchidism 296
Death in early childhood 82
Death in infancy 82
Decreased to absent deep tendon reflexes 42
Degenerative brain disorder 100
Delayed closure of the soft spot on the skull 11
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Developmental regression 95
Difficulties with night vision 87
Electroencephalogram abnormal 101
Elevated hepatic transaminases 81
Elevated levels of phytanic acid 15
Elevated long chain fatty acids 4
Embryotoxon 28
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Flat back of the head 26
Flat face 52
Flat occiput 26
Global developmental delay 608
Global developmental delay, severe 47
Growth delay 114
Growth failure 114
Growth retardation 115
Hepatic enzyme increased 81
Hepatomegaly 285
High forehead 102
Hydronephrosis 89
Hyperreflexia 209
Hypertrophy of clitoris 40
Hypoplastic mandible condyle 275
Hypotonia, severe 33
Icterus 82
Impaired cognition 96
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 11
Lens Opacities 231
Liver Dysfunction 99
Liver Failure 73
Liver diseases 87
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Long narrow head 75
Loss of developmental milestones 95
Low Vision 174
Low-set, posteriorly rotated ears 110
Major Depressive Disorder 301
Malabsorption 82
Malformation of cranial vault shape 5
Malformation of cranium shape 5
Malformation of head shape 5
Malformations of Cortical Development, Group II 31
Malformed pinnae 37
Mandibular hypoplasia 275
Mental and motor retardation 608
Mental deterioration in childhood 95
Mental impairment 95
Micrognathism 275
Movement Disorders 55
Multicystic Dysplastic Kidney 52
Muscle Spasticity 195
Muscle hypotonia 571
Muscle weakness, progressive 22
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Neurodevelopmental regression 95
Night Blindness 101
Nystagmus 317
Optic Atrophy 242
Osteochondrodysplasias 72
Pediatric failure to thrive 365
Penile hypospadias 106
Polymicrogyria 48
Poor growth 114
Posterior embryotoxon 28
Premature Birth 77
Premature birth of newborn 67
Profound global developmental delay 17
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Psychomotor retardation, profound 17
Pyloric Stenosis 47
Renal tubular disorder 12
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal pigment epithelial abnormality 111
Retinitis Pigmentosa 226
Schizophrenia 1160
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe psychomotor retardation 47
Short stature 531
Small head 374
Stippled epiphyses 28
Strabismus 270
Subclinical abnormal liver function tests 81
Supratentorial atrophy 94
Tall forehead 102
Transaminases increased 81
Triangular face 58
Turridolichocephaly 75
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Unipolar Depression 250
Upward slant of palpebral fissure 75
Very long chain fatty acid accumulation 13
Very poor growth 114
Visual Impairment 174
Visual field constriction 36
Wide anterior fontanel 44
Disease Target Count Z-score Confidence
Carcinoma 11493 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