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PEX1

GENERAL INFORMATION

Gene name

 PEX1

Gene description

 Peroxisomal biogenesis factor 1

Protein class

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

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression in several tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA020235
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA020235

GENE INFORMATION

Gene name

 PEX1 (HGNC Symbol)

Synonyms

 ZWS, ZWS1

Description

 Peroxisomal biogenesis factor 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

Chromosome

 7

Cytoband

 q21.2

Chromosome location (bp)

 92487020 - 92528531

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000127980 (version 83.38)

Entrez gene

 5189

UniProt

 O43933 (UniProt - Evidence at protein level)

neXtProt

 NX_O43933

Antibodypedia

 PEX1 antibodies

PROTEIN BROWSER
PEX1-001
PEX1-002
PEX1-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PEX1-001
ENSP00000248633
ENST00000248633
O43933 [Direct mapping]
Peroxisome biogenesis factor 1
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Transporters
   Primary Active Transporters
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005829 [cytosol]
GO:0006625 [protein targeting to peroxisome]
GO:0007031 [peroxisome organization]
GO:0008022 [protein C-terminus binding]
GO:0008152 [metabolic process]
GO:0016558 [protein import into peroxisome matrix]
GO:0032403 [protein complex binding]
GO:0042623 [ATPase activity, coupled]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0060152 [microtubule-based peroxisome localization]
GO:0070062 [extracellular exosome]
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 1283 aa
142.9 kDa 		No 0
PEX1-002
ENSP00000410438
ENST00000438045
O43933 [Direct mapping]
Peroxisome biogenesis factor 1
Show all
Transporters
   Primary Active Transporters
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005829 [cytosol]
GO:0006625 [protein targeting to peroxisome]
GO:0007031 [peroxisome organization]
GO:0008022 [protein C-terminus binding]
GO:0008152 [metabolic process]
GO:0016558 [protein import into peroxisome matrix]
GO:0032403 [protein complex binding]
GO:0042623 [ATPase activity, coupled]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0060152 [microtubule-based peroxisome localization]
GO:0070062 [extracellular exosome]
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 961 aa
106 kDa 		No 0
PEX1-004
ENSP00000394413
ENST00000428214
A0A0C4DG33 [Direct mapping]
Peroxisome biogenesis factor 1; Peroxisome biogenesis factor 1, isoform CRA_c
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0006625 [protein targeting to peroxisome]
GO:0007031 [peroxisome organization]
GO:0008152 [metabolic process]
GO:0042623 [ATPase activity, coupled]
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 1226 aa
136.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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