PEX1

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)

92116334 - 92157845

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000127980 (version 75.37)

Entrez gene

5189

UniProt

O43933 (UniProt - Evidence at protein level)

neXtProt

NX_O43933

Antibodypedia

PEX1 antibodies
 

PROTEIN VIEW

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PEX1-001
 
PEX1-002
 
PEX1-004
 
PEX1-010
 
PEX1-201
 
 
 
 
 

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
PEX1-010 ENSP00000389594
ENST00000422866
Show » 196 22.5 No 0
PEX1-201 ENSP00000438637
ENST00000541751
B4DEY5
Show all »
Show » Show » 160 17.3 No 0