• Gene id: 8504

Gene Summary

• Gene Symbol: PEX3   Gene   UCSC   Ensembl
• Aliases: PBD10A, PBD10B, TRG18
• Gene name: peroxisomal biogenesis factor 3
• Alternate names: peroxisomal biogenesis factor 3, peroxin-3, peroxisomal assembly protein PEX3, transformation-related protein 18,
• Gene location: 6q24.2 (143450804: 143490615)     Exons: 1     NC_000006.12
• Gene summary(Entrez): The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The pero
• OMIM: 603164

SNPs

rs12088543

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.84252300T>C
NC_000001.10   g.84717983T>C|SEQ=[T/C]|GENE=LOC107985046

Protein Summary

• Protein general information: P56589  
  • Name: Peroxisomal biogenesis factor 3 (Peroxin 3) (Peroxisomal assembly protein PEX3)
  • Length: 373  
  • Mass: 42140
  • Tissue specificity: Found in all examined tissues.
• Sequence:

  MLRSVWNFLKRHKKKCIFLGTVLGGVYILGKYGQKKIREIQEREAAEYIAQARRQYHFESNQRTCNMTVLSMLPT
  LREALMQQLNSESLTALLKNRPSNKLEIWEDLKIISFTRSTVAVYSTCMLVVLLRVQLNIIGGYIYLDNAAVGKN
  GTTILAPPDVQQQYLSSIQHLLGDGLTELITVIKQAVQKVLGSVSLKHSLSLLDLEQKLKEIRNLVEQHKSSSWI
  NKDGSKPLLCHYMMPDEETPLAVQACGLSPRDITTIKLLNETRDMLESPDFSTVLNTCLNRGFSRLLDNMAEFFR
  PTEQDLQHGNSMNSLSSVSLPLAKIIPIVNGQIHSVCSETPSHFVQDLLTMEQVKDFAANVYEAFSTPQQLEK

• Structural information:
  • Interpro: IPR006966  
  • PDB: 3AJB 3MK4
  • PDBsum: 3AJB 3MK4
  • STRING: ENSP00000356563
• Other Databases: GeneCards:  PEX3  Malacards:  PEX3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045046	protein import into peroxisome membrane	IBA	biological process
GO:0030674	protein-macromolecule adaptor activity	IBA	molecular function
GO:0005779	integral component of peroxisomal membrane	IBA	cellular component
GO:0007031	peroxisome organization	IEA	biological process
GO:0005779	integral component of peroxisomal membrane	IEA	cellular component
GO:0007031	peroxisome organization	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0055085	transmembrane transport	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:0007031	peroxisome organization	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0016557	peroxisome membrane biogenesis	IEA	biological process
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005779	integral component of peroxisomal membrane	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0032994	protein-lipid complex	IDA	cellular component
GO:0005779	integral component of peroxisomal membrane	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0008289	lipid binding	IDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0007031	peroxisome organization	IMP	biological process
GO:0007031	peroxisome organization	IMP	biological process
GO:0005778	peroxisomal membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005777	peroxisome	IMP	cellular component
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:0045046	protein import into peroxisome membrane	IMP	biological process
GO:0007031	peroxisome organization	IMP	biological process
GO:0007031	peroxisome organization	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Peroxisome biogenesis disorder	KEGG:H00205
Zellweger syndrome	KEGG:H01342
Peroxisome biogenesis disorder	KEGG:H00205
Zellweger syndrome	KEGG:H01342
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