InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PEX5

Summary

InnateDB Gene

IDBG-16151.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PEX5

Gene Name

peroxisomal biogenesis factor 5

Synonyms

PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1

Species

Homo sapiens

Ensembl Gene

ENSG00000139197

Encoded Proteins

IDBP-16153

peroxisomal biogenesis factor 5

IDBP-16155

peroxisomal biogenesis factor 5

IDBP-237074

peroxisomal biogenesis factor 5

IDBP-365499

peroxisomal biogenesis factor 5

IDBP-365501

peroxisomal biogenesis factor 5

IDBP-365502

peroxisomal biogenesis factor 5

IDBP-365505

peroxisomal biogenesis factor 5

IDBP-588699

peroxisomal biogenesis factor 5

IDBP-589402

peroxisomal biogenesis factor 5

IDBP-603900

peroxisomal biogenesis factor 5

IDBP-603899

peroxisomal biogenesis factor 5

IDBP-603898

peroxisomal biogenesis factor 5

IDBP-593810

peroxisomal biogenesis factor 5

IDBP-590279

peroxisomal biogenesis factor 5

IDBP-600876

peroxisomal biogenesis factor 5

IDBP-603896

peroxisomal biogenesis factor 5

IDBP-588246

peroxisomal biogenesis factor 5

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 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 are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 12:7188685-7218574

Strand

Forward strand

Band

p13.31

Transcripts

ENST00000266564	ENSP00000266564
ENST00000266563	ENSP00000266563
ENST00000396637	ENSP00000379877
ENST00000455147	ENSP00000400647
ENST00000420616	ENSP00000410159
ENST00000434354	ENSP00000407401
ENST00000412720	ENSP00000391601
ENST00000536883	ENSP00000441553
ENST00000542539	ENSP00000439025
ENST00000540398	ENSP00000438494
ENST00000543974	ENSP00000438772
ENST00000545220
ENST00000544456	ENSP00000440833
ENST00000545574	ENSP00000443500
ENST00000535486
ENST00000536841	ENSP00000445630
ENST00000537873	ENSP00000437938
ENST00000545845	ENSP00000440711
ENST00000539304
ENST00000541850	ENSP00000444787

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 92 experimentally validated interaction(s) in this database.

Experimentally validated
Total	92 [view]
Protein-Protein	92 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000268	peroxisome targeting sequence binding
GO:0005052	peroxisome matrix targeting signal-1 binding
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0019899	enzyme binding
GO:0031267	small GTPase binding
GO:0047485	protein N-terminus binding

Biological Process

GO:0000038	very long-chain fatty acid metabolic process
GO:0001764	neuron migration
GO:0006625	protein targeting to peroxisome
GO:0006635	fatty acid beta-oxidation
GO:0007005	mitochondrion organization
GO:0007006	mitochondrial membrane organization
GO:0007029	endoplasmic reticulum organization
GO:0007031	peroxisome organization
GO:0016558	protein import into peroxisome matrix
GO:0016560	protein import into peroxisome matrix, docking
GO:0016561	protein import into peroxisome matrix, translocation
GO:0021795	cerebral cortex cell migration
GO:0021895	cerebral cortex neuron differentiation
GO:0040018	positive regulation of multicellular organism growth
GO:0044255	cellular lipid metabolic process
GO:0045046	protein import into peroxisome membrane
GO:0048468	cell development
GO:0050905	neuromuscular process
GO:0051262	protein tetramerization
GO:1901094	negative regulation of protein homotetramerization

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005777	peroxisome
GO:0005778	peroxisomal membrane
GO:0005782	peroxisomal matrix
GO:0005794	Golgi apparatus
GO:0005829	cytosol
GO:0016020	membrane
GO:0043234	protein complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000005069

View Gene Order

ENSBTAG00000010490

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa04146

Peroxisome pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

B4E0T2 F5GXX3 F5GYB4 F5GZ41 F5H0L9 F5H205 F5H3X7 F5H432

UniProt Splice Variant

Entrez Gene

5830

UniGene

Hs.567327

RefSeq

NM_001300789 XM_005253452 NM_000319 NM_001131023 NM_001131024 NM_001131025 NM_001131026 XM_005253455 XM_006719131

HUGO

HGNC:9719

OMIM

600414

CCDS

CCDS73433 CCDS44822 CCDS44823 CCDS44824 CCDS8576

HPRD

02684

IMGT

EMBL

AC018653 AK292256 AK302742 AK303515 AK316250 BC010621 CH471116 U19721 X84899 Z48054

GenPept

AAC50103 AAH10621 BAF84945 BAG63957 BAG64544 BAH14621 CAA59324 CAA88131 EAW88671 EAW88672 EAW88674

RNA Seq Atlas

5830