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PEX6

GENERAL INFORMATION

Gene name

 PEX6

Gene description

 Peroxisomal biogenesis factor 6

Protein class

 Disease related genes
Potential drug targets
Predicted intracellular proteins
Transporters

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression with a granular pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA025924
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 PEX6 (HGNC Symbol)

Synonyms

 PAF-2, PXAAA1

Description

 Peroxisomal biogenesis factor 6 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Chromosome

 6

Cytoband

 p21.1

Chromosome location (bp)

 42963870 - 42979220

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000124587 (version 83.38)

Entrez gene

 5190

UniProt

 Q13608 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13608

Antibodypedia

 PEX6 antibodies

PROTEIN BROWSER
PEX6-001
PEX6-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PEX6-001
ENSP00000303511
ENST00000304611
Q13608 [Direct mapping]
Peroxisome assembly factor 2
A0A024RD09 [Target identity:100%; Query identity:100%]
Peroxisomal biogenesis factor 6, isoform CRA_a
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Transporters
   Primary Active Transporters
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
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:0016561 [protein import into peroxisome matrix, translocation]
GO:0016887 [ATPase activity]
GO:0032403 [protein complex binding]
GO:0042623 [ATPase activity, coupled]
GO:0050821 [protein stabilization]
Show all
 980 aa
104.1 kDa 		No 0
PEX6-201
ENSP00000244546
ENST00000244546
Q13608 [Direct mapping]
Peroxisome assembly factor 2
Show all
Transporters
   Primary Active Transporters
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular 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:0016561 [protein import into peroxisome matrix, translocation]
GO:0016887 [ATPase activity]
GO:0032403 [protein complex binding]
GO:0042623 [ATPase activity, coupled]
GO:0050821 [protein stabilization]
Show all
 738 aa
77.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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