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PEX5

CANCER ATLAS

Gene description

 Peroxisomal biogenesis factor 5

Protein class

 Disease related genes, Predicted intracellular proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Testis cancer

STAINING SUMMARY
HPA039259
HPA039260

GENE INFORMATION

Gene name

 PEX5 (HGNC Symbol)

Synonyms

 PTS1R, PXR1

Description

 Peroxisomal biogenesis factor 5 (HGNC Symbol)

Entrez gene summary

 The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular 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 neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Chromosome

 12

Cytoband

 p13.31

Chromosome location (bp)

 7188685 - 7218574

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000139197 (version 83.38)

Entrez gene

 5830

UniProt

 P50542 (UniProt - Evidence at protein level)

neXtProt

 NX_P50542

Antibodypedia

 PEX5 antibodies

PROTEIN BROWSER
«
PEX5-001
PEX5-002
PEX5-003
PEX5-004
PEX5-005
PEX5-006
PEX5-007
PEX5-008
PEX5-009
PEX5-010
PEX5-011
PEX5-012
PEX5-013
PEX5-014
PEX5-015
PEX5-016
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PEX5-001
ENSP00000400647
ENST00000455147
P50542 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000268 [peroxisome targeting sequence binding]
GO:0005052 [peroxisome matrix targeting signal-1 binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005782 [peroxisomal matrix]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0006625 [protein targeting to peroxisome]
GO:0008022 [protein C-terminus binding]
GO:0016020 [membrane]
GO:0016558 [protein import into peroxisome matrix]
GO:0016560 [protein import into peroxisome matrix, docking]
GO:0016561 [protein import into peroxisome matrix, translocation]
GO:0019899 [enzyme binding]
GO:0031267 [small GTPase binding]
GO:0043234 [protein complex]
GO:0045046 [protein import into peroxisome membrane]
GO:0047485 [protein N-terminus binding]
GO:0051262 [protein tetramerization]
GO:1901094 [negative regulation of protein homotetramerization]
Show all
 639 aa
70.9 kDa 		No 0
PEX5-002
ENSP00000266563
ENST00000266563
P50542 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000268 [peroxisome targeting sequence binding]
GO:0005052 [peroxisome matrix targeting signal-1 binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005782 [peroxisomal matrix]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0006625 [protein targeting to peroxisome]
GO:0008022 [protein C-terminus binding]
GO:0016020 [membrane]
GO:0016558 [protein import into peroxisome matrix]
GO:0016560 [protein import into peroxisome matrix, docking]
GO:0016561 [protein import into peroxisome matrix, translocation]
GO:0019899 [enzyme binding]
GO:0031267 [small GTPase binding]
GO:0043234 [protein complex]
GO:0045046 [protein import into peroxisome membrane]
GO:0047485 [protein N-terminus binding]
GO:0051262 [protein tetramerization]
GO:1901094 [negative regulation of protein homotetramerization]
Show all
 602 aa
66.8 kDa 		No 0
PEX5-003
ENSP00000407401
ENST00000434354
P50542 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000268 [peroxisome targeting sequence binding]
GO:0005052 [peroxisome matrix targeting signal-1 binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005782 [peroxisomal matrix]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0006625 [protein targeting to peroxisome]
GO:0008022 [protein C-terminus binding]
GO:0016020 [membrane]
GO:0016558 [protein import into peroxisome matrix]
GO:0016560 [protein import into peroxisome matrix, docking]
GO:0016561 [protein import into peroxisome matrix, translocation]
GO:0019899 [enzyme binding]
GO:0031267 [small GTPase binding]
GO:0043234 [protein complex]
GO:0045046 [protein import into peroxisome membrane]
GO:0047485 [protein N-terminus binding]
GO:0051262 [protein tetramerization]
GO:1901094 [negative regulation of protein homotetramerization]
Show all
 654 aa
72.3 kDa 		No 0
PEX5-004
ENSP00000410159
ENST00000420616
P50542 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000268 [peroxisome targeting sequence binding]
GO:0005052 [peroxisome matrix targeting signal-1 binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005782 [peroxisomal matrix]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0006625 [protein targeting to peroxisome]
GO:0008022 [protein C-terminus binding]
GO:0016020 [membrane]
GO:0016558 [protein import into peroxisome matrix]
GO:0016560 [protein import into peroxisome matrix, docking]
GO:0016561 [protein import into peroxisome matrix, translocation]
GO:0019899 [enzyme binding]
GO:0031267 [small GTPase binding]
GO:0043234 [protein complex]
GO:0045046 [protein import into peroxisome membrane]
GO:0047485 [protein N-terminus binding]
GO:0051262 [protein tetramerization]
GO:1901094 [negative regulation of protein homotetramerization]
Show all
 639 aa
70.9 kDa 		No 0
PEX5-005
ENSP00000391601
ENST00000412720
B4E0T2 [Direct mapping]
Peroxisomal targeting signal 1 receptor; cDNA FLJ56404, highly similar to Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000038 [very long-chain fatty acid metabolic process]
GO:0001764 [neuron migration]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005794 [Golgi apparatus]
GO:0006635 [fatty acid beta-oxidation]
GO:0007005 [mitochondrion organization]
GO:0007006 [mitochondrial membrane organization]
GO:0007029 [endoplasmic reticulum organization]
GO:0007031 [peroxisome organization]
GO:0021795 [cerebral cortex cell migration]
GO:0021895 [cerebral cortex neuron differentiation]
GO:0040018 [positive regulation of multicellular organism growth]
GO:0044255 [cellular lipid metabolic process]
GO:0048468 [cell development]
GO:0050905 [neuromuscular process]
Show all
 660 aa
73.2 kDa 		No 0
PEX5-006
ENSP00000266564
ENST00000266564
P50542 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000268 [peroxisome targeting sequence binding]
GO:0005052 [peroxisome matrix targeting signal-1 binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005782 [peroxisomal matrix]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0006625 [protein targeting to peroxisome]
GO:0008022 [protein C-terminus binding]
GO:0016020 [membrane]
GO:0016558 [protein import into peroxisome matrix]
GO:0016560 [protein import into peroxisome matrix, docking]
GO:0016561 [protein import into peroxisome matrix, translocation]
GO:0019899 [enzyme binding]
GO:0031267 [small GTPase binding]
GO:0043234 [protein complex]
GO:0045046 [protein import into peroxisome membrane]
GO:0047485 [protein N-terminus binding]
GO:0051262 [protein tetramerization]
GO:1901094 [negative regulation of protein homotetramerization]
Show all
 631 aa
69.9 kDa 		No 0
PEX5-007
ENSP00000441553
ENST00000536883
F5GZ41 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
Show all
 115 aa
13.2 kDa 		No 0
PEX5-008
ENSP00000439025
ENST00000542539
F5H3X7 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
Show all
 248 aa
27.4 kDa 		No 0
PEX5-009
ENSP00000438494
ENST00000540398
F5H432 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 102 aa
11.1 kDa 		No 0
PEX5-010
ENSP00000438772
ENST00000543974
F5H0L9 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
Show all
 119 aa
13.7 kDa 		No 0
PEX5-011
ENSP00000440833
ENST00000544456
F5GXX3 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 104 aa
11.3 kDa 		No 0
PEX5-012
ENSP00000443500
ENST00000545574
F5H5C0 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
Show all
 272 aa
30.6 kDa 		No 0
PEX5-013
ENSP00000379877
ENST00000396637
J3KPV0 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
Show all
 410 aa
45.9 kDa 		No 0
PEX5-014
ENSP00000445630
ENST00000536841
F5H205 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 114 aa
12.3 kDa 		No 0
PEX5-015
ENSP00000437938
ENST00000537873
F5H637 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 168 aa
18.6 kDa 		No 0
PEX5-016
ENSP00000440711
ENST00000545845
F5GYB4 [Direct mapping]
Peroxisomal targeting signal 1 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
Show all
 128 aa
14.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.