PEX1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA020235
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

5189

UniProt

O43933 (UniProt - Evidence at protein level)

neXtProt

NX_O43933

Antibodypedia

PEX1 antibodies


PROTEIN BROWSER

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ENST00000248633
 
ENST00000428214
 
ENST00000438045
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PEX1-001 ENSP00000248633
ENST00000248633
O43933
Show all »
Show » Show » 1283 142.9 No 0
PEX1-002 ENSP00000410438
ENST00000438045
E9PE75
Show all »
Show » Show » 961 106 No 0
PEX1-004 ENSP00000394413
ENST00000428214
O43933
Show all »
Show » Show » 1226 136.6 No 0