• Gene id: 5194

Gene Summary

• Gene Symbol: PEX13   Gene   UCSC   Ensembl
• Aliases: NALD, PBD11A, PBD11B, ZWS
• Gene name: peroxisomal biogenesis factor 13
• Alternate names: peroxisome biogenesis factor 13, peroxin-13, peroxisomal membrane protein PEX13,
• Gene location: 2p15 (10170598: 10191803)     Exons: 6     NC_000012.12
• Gene summary(Entrez): This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal
• OMIM: 601789

Protein Summary

• Protein general information: Q92968  
  • Name: Peroxisomal membrane protein PEX13 (Peroxin 13)
  • Length: 403  
  • Mass: 44130
• Sequence:

  MASQPPPPPKPWETRRIPGAGPGPGPGPTFQSADLGPTLMTRPGQPALTRVPPPILPRPSQQTGSSSVNTFRPAY
  SSFSSGYGAYGNSFYGGYSPYSYGYNGLGYNRLRVDDLPPSRFVQQAEESSRGAFQSIESIVHAFASVSMMMDAT
  FSAVYNSFRAVLDVANHFSRLKIHFTKVFSAFALVRTIRYLYRRLQRMLGLRRGSENEDLWAESEGTVACLGAED
  RAATSAKSWPIFLFFAVILGGPYLIWKLLSTHSDEVTDSINWASGEDDHVVARAEYDFAAVSEEEISFRAGDMLN
  LALKEQQPKVRGWLLASLDGQTTGLIPANYVKILGKRKGRKTVESSKVSKQQQSFTNPTLTKGATVADSLDEQEA
  AFESVFVETNKVPVAPDSIGKDGEKQDL

• Structural information:
  • Protein Domains: (272..33-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR007223  IPR035463  IPR036028  IPR001452  
  • Prosite: PS50002
  • STRING: ENSP00000295030
• Other Databases: GeneCards:  PEX13  Malacards:  PEX13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016560	protein import into peroxisome matrix, docking	IBA	biological process
GO:1990429	peroxisomal importomer complex	IBA	cellular component
GO:0005778	peroxisomal membrane	IBA	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0016560	protein import into peroxisome matrix, docking	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0005778	peroxisomal membrane	IDA	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:0021795	cerebral cortex cell migration	IEA	biological process
GO:0016560	protein import into peroxisome matrix, docking	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0060152	microtubule-based peroxisome localization	IEA	biological process
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0001967	suckling behavior	IEA	biological process
GO:0001561	fatty acid alpha-oxidation	IEA	biological process
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005779	integral component of peroxisomal membrane	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0060152	microtubule-based peroxisome localization	ISS	biological process
GO:0005778	peroxisomal membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001561	fatty acid alpha-oxidation	ISS	biological process
GO:0021795	cerebral cortex cell migration	ISS	biological process
GO:0016560	protein import into peroxisome matrix, docking	IMP	biological process
GO:0016560	protein import into peroxisome matrix, docking	TAS	biological process
GO:0007626	locomotory behavior	ISS	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001967	suckling behavior	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Peroxisome biogenesis disorder	KEGG:H00205
Zellweger syndrome	KEGG:H01342
Neonatal adrenoleukodystrophy	KEGG:H00177
Peroxisome biogenesis disorder	KEGG:H00205
Zellweger syndrome	KEGG:H01342
Neonatal adrenoleukodystrophy	KEGG:H00177
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray