• Gene id: 5830

Gene Summary

• Gene Symbol: PEX5   Gene   UCSC   Ensembl
• Aliases: PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, RCDP5
• Gene name: peroxisomal biogenesis factor 5
• Alternate names: peroxisomal biogenesis factor 5, PTS1 receptor, peroxin-5, peroxisomal C-terminal targeting signal import receptor, peroxisomal import receptor 5, peroxisomal targeting signal 1 (SKL type) receptor, peroxisomal targeting signal 1 receptor, peroxisomal targeting ,
• Gene location: 12p13.31 (68245693: 68226652)     Exons: 10     NC_000004.12
• Gene summary(Entrez): 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 peroxis
• OMIM: 600414

Protein Summary

• Protein general information: P50542  
  • Name: Peroxisomal targeting signal 1 receptor (PTS1 receptor) (PTS1R) (PTS1 BP) (Peroxin 5) (Peroxisomal C terminal targeting signal import receptor) (Peroxisome receptor 1)
  • Length: 639  
  • Mass: 70865
  • Tissue specificity: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASEDELVAEFLQDQNAPLV
  SRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLAAGDAVDVTQDYNETDWSQEFISEVTD
  PLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAKVDDPKLANSEFLKFVRQIGEG
  QVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIESDVDFWDKLQAELEEMAK
  RDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQDPKHMEAWQYL
  GTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGA
  GLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLW
  NKLGATLANGNQSEEAVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMS
  ENIWSTLRLALSMLGQSDAYGAADARDLSTLLTMFGLPQ

• Structural information:
  • Interpro: IPR024113  IPR024111  IPR013026  IPR011990  IPR019734  
  • Prosite: PS50005 PS50293
  • PDB: 1FCH 2C0L 2C0M 2J9Q 2W84 3R9A 4BXU 4KXK 4KYO
  • PDBsum: 1FCH 2C0L 2C0M 2J9Q 2W84 3R9A 4BXU 4KXK 4KYO
  • DIP: 34654
  • STRING: ENSP00000391601
• Other Databases: GeneCards:  PEX5  Malacards:  PEX5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0016560	protein import into peroxisome matrix, docking	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0005052	peroxisome matrix targeting signal-1 binding	IBA	molecular function
GO:0005778	peroxisomal membrane	IBA	cellular component
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0140311	protein sequestering activity	IDA	molecular function
GO:0031333	negative regulation of protein-containing complex assembly	IDA	biological process
GO:0000268	peroxisome targeting sequence binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0016560	protein import into peroxisome matrix, docking	IDA	biological process
GO:0005052	peroxisome matrix targeting signal-1 binding	IDA	molecular function
GO:0005052	peroxisome matrix targeting signal-1 binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045046	protein import into peroxisome membrane	IMP	biological process
GO:0005052	peroxisome matrix targeting signal-1 binding	IPI	molecular function
GO:0031267	small GTPase binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0016558	protein import into peroxisome matrix	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0016558	protein import into peroxisome matrix	IGI	biological process
GO:0016558	protein import into peroxisome matrix	NAS	biological process
GO:0005778	peroxisomal membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0033328	peroxisome membrane targeting sequence binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Peroxisome biogenesis disorder	KEGG:H00205
Zellweger syndrome	KEGG:H01342
Rhizomelic chondrodysplasia punctata	KEGG:H00207
Neonatal adrenoleukodystrophy	KEGG:H00177
Peroxisome biogenesis disorder	KEGG:H00205
Zellweger syndrome	KEGG:H01342
Rhizomelic chondrodysplasia punctata	KEGG:H00207
Neonatal adrenoleukodystrophy	KEGG:H00177
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881