PEX19 (peroxisomal biogenesis factor 19)

2014-11-01  

Identity

HGNC
PEX19
LOCATION
1q23.2
LOCUSID
5824
ALIAS
D1S2223E,HK33,PBD12A,PMP1,PMPI,PXF,PXMP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5824
MIM: 600279
HGNC: 9713
Ensembl: ENSG00000162735

Variants:

dbSNP: 5824
ClinVar: 5824
TCGA: ENSG00000162735
COSMIC: PEX19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162735ENST00000368072P40855
ENSG00000162735ENST00000368072A0A0S2Z497
ENSG00000162735ENST00000392220Q5QNY5
ENSG00000162735ENST00000462644E9PS71
ENSG00000162735ENST00000472750E9PPB4
ENSG00000162735ENST00000495624H0YDY4
ENSG00000162735ENST00000532643B7Z8B3

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
147095402004PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins.72
150070612004PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins.64
234606772013Tail-anchored PEX26 targets peroxisomes via a PEX19-dependent and TRC40-independent class I pathway.33
187827652008Targeting of hFis1 to peroxisomes is mediated by Pex19p.29
168959672006Functional domain mapping of peroxin Pex19p: interaction with Pex3p is essential for function and translocation.24
152520242004Domain architecture and activity of human Pex19p, a chaperone-like protein for intracellular trafficking of peroxisomal membrane proteins.23
162803222006In vitro transport of membrane proteins to peroxisomes by shuttling receptor Pex19p.21
205313922010The peroxisomal receptor Pex19p forms a helical mPTS recognition domain.20
211024112010Structural basis for docking of peroxisomal membrane protein carrier Pex19p onto its receptor Pex3p.20
147156632004Potential role for Pex19p in assembly of PTS-receptor docking complexes.19

Citation

Dessen P

PEX19 (peroxisomal biogenesis factor 19)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71839/pex19