PEX3 (peroxisomal biogenesis factor 3)

2019-04-01  

Identity

HGNC
PEX3
LOCATION
6q24.2
LOCUSID
8504
ALIAS
PBD10A,PBD10B,TRG18

Other Information

Locus ID:

NCBI: 8504
MIM: 603164
HGNC: 8858
Ensembl: ENSG00000034693

Variants:

dbSNP: 8504
ClinVar: 8504
TCGA: ENSG00000034693
COSMIC: PEX3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000034693ENST00000367591P56589
ENSG00000034693ENST00000367592Q7Z6V3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
150070612004PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins.64
168959672006Functional domain mapping of peroxin Pex19p: interaction with Pex3p is essential for function and translocation.24
194798992009Pex3p-dependent peroxisomal biogenesis initiates in the endoplasmic reticulum of human fibroblasts.20
211024112010Structural basis for docking of peroxisomal membrane protein carrier Pex19p onto its receptor Pex3p.20
272955532016Peroxin-dependent targeting of a lipid-droplet-destined membrane protein to ER subdomains.19
205545212010Insights into peroxisome function from the structure of PEX3 in complex with a soluble fragment of PEX19.18
250024032014PEX16 contributes to peroxisome maintenance by constantly trafficking PEX3 via the ER.18
226248582012The role of conserved PEX3 regions in PEX19-binding and peroxisome biogenesis.13
181741722008Characterization of the interaction between recombinant human peroxin Pex3p and Pex19p: identification of TRP-104 IN Pex3p as a critical residue for the interaction.12
197157302009The cytosolic domain of PEX3, a protein involved in the biogenesis of peroxisomes, binds membrane lipids.9

Citation

Dessen P

PEX3 (peroxisomal biogenesis factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57932/pex3