Expression of PEX7 in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Peroxisomal biogenesis factor 7

Protein class

Disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA049202

GENE INFORMATION
Gene name	PEX7 (HGNC Symbol)
Synonyms	PTS2R, RD
Description	Peroxisomal biogenesis factor 7 (HGNC Symbol)
Entrez gene summary	This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one 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 have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
Chromosome	6
Cytoband	q23.3
Chromosome location (bp)	136822564 - 136913937
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000112357 (version 83.38)
Entrez gene	5191
UniProt	O00628 (UniProt - Evidence at protein level)
neXtProt	NX_O00628
Antibodypedia	PEX7 antibodies

PROTEIN BROWSER

PEX7-001	PEX7-002	PEX7-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PEX7-001 ENSP00000315680 ENST00000318471	O00628 [Direct mapping] Peroxisomal targeting signal 2 receptor Q6FGN1 [Target identity:100%; Query identity:100%] PEX7 protein; Peroxisomal biogenesis factor 7, isoform CRA_a Show all	Transporters Primary Active Transporters Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001764 [neuron migration] GO:0001958 [endochondral ossification] GO:0005053 [peroxisome matrix targeting signal-2 binding] GO:0005515 [protein binding] GO:0005777 [peroxisome] GO:0005782 [peroxisomal matrix] GO:0005829 [cytosol] GO:0006625 [protein targeting to peroxisome] GO:0006635 [fatty acid beta-oxidation] GO:0007031 [peroxisome organization] GO:0008611 [ether lipid biosynthetic process] GO:0016558 [protein import into peroxisome matrix] GO:0019899 [enzyme binding] GO:0042803 [protein homodimerization activity] Show all	323 aa 35.9 kDa	No	0
PEX7-002 ENSP00000356730 ENST00000367756	Q5TDQ5 [Direct mapping] Peroxisomal targeting signal 2 receptor Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	122 aa 13.2 kDa	No	0
PEX7-201 ENSP00000441004 ENST00000541292	O00628 [Direct mapping] Peroxisomal targeting signal 2 receptor Show all	Transporters Primary Active Transporters Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0005053 [peroxisome matrix targeting signal-2 binding] GO:0005515 [protein binding] GO:0005777 [peroxisome] GO:0005782 [peroxisomal matrix] GO:0005829 [cytosol] GO:0007031 [peroxisome organization] GO:0008611 [ether lipid biosynthetic process] GO:0016558 [protein import into peroxisome matrix] GO:0019899 [enzyme binding] GO:0042803 [protein homodimerization activity] Show all	280 aa 30.9 kDa	No	0