• Gene id: 5193

Gene Summary

• Gene Symbol: PEX12   Gene   UCSC   Ensembl
• Aliases: PAF-3, PBD3A
• Gene name: peroxisomal biogenesis factor 12
• Alternate names: peroxisome assembly protein 12, peroxin 12, peroxisome assembly factor 3,
• Gene location: 17q12 (35578570: 35574794)     Exons: 6     NC_000017.11
• Gene summary(Entrez): This gene belongs to the peroxin-12 family. 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 disease
• OMIM: 601758

Protein Summary

• Protein general information: O00623  
  • Name: Peroxisome assembly protein 12 (Peroxin 12) (Peroxisome assembly factor 3) (PAF 3)
  • Length: 359  
  • Mass: 40797
• Sequence:

  MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYL
  SRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSS
  RWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPA
  RSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKM
  KTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN

• Structural information:
  • Interpro: IPR017375  IPR006845  IPR013083  
  • STRING: ENSP00000482609
• Other Databases: GeneCards:  PEX12  Malacards:  PEX12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:1990429	peroxisomal importomer complex	IBA	cellular component
GO:0005779	integral component of peroxisomal membrane	IBA	cellular component
GO:0006513	protein monoubiquitination	IBA	biological process
GO:0016558	protein import into peroxisome matrix	IBA	biological process
GO:0006625	protein targeting to peroxisome	IEA	biological process
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005779	integral component of peroxisomal membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0016021	integral component of membrane	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:0005778	peroxisomal membrane	TAS	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
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: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:0005779	integral component of peroxisomal membrane	IDA	cellular component
GO:0005779	integral component of peroxisomal membrane	IDA	cellular component
GO:0005779	integral component of peroxisomal membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IMP	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0007031	peroxisome organization	IMP	biological process
GO:0016558	protein import into peroxisome matrix	IMP	biological process
GO:0016558	protein import into peroxisome matrix	IMP	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0006625	protein targeting to peroxisome	NAS	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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881