• Gene id: 5189

Gene Summary

• Gene Symbol: PEX1   Gene   UCSC   Ensembl
• Aliases: HMLR1, PBD1A, PBD1B, ZWS, ZWS1
• Gene name: peroxisomal biogenesis factor 1
• Alternate names: peroxisome biogenesis factor 1, Zellweger syndrome, peroxin-1, peroxisome biogenesis disorder protein 1,
• Gene location: 7q21.2 (92528519: 92487022)     Exons: 24     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in
• OMIM: 602136

Protein Summary

• Protein general information: O43933  
  • Name: Peroxisome biogenesis factor 1 (Peroxin 1) (Peroxisome biogenesis disorder protein 1)
  • Length: 1283  
  • Mass: 142867
• Sequence:

  MWGSDRLAGAGGGGAAVTVAFTNARDCFLHLPRRLVAQLHLLQNQAIEVVWSHQPAFLSWVEGRHFSDQGENVAE
  INRQVGQKLGLSNGGQVFLKPCSHVVSCQQVEVEPLSADDWEILELHAVSLEQHLLDQIRIVFPKAIFPVWVDQQ
  TYIFIQIVALIPAASYGRLETDTKLLIQPKTRRAKENTFSKADAEYKKLHSYGRDQKGMMKELQTKQLQSNTVGI
  TESNENESEIPVDSSSVASLWTMIGSIFSFQSEKKQETSWGLTEINAFKNMQSKVVPLDNIFRVCKSQPPSIYNA
  SATSVFHKHCAIHVFPWDQEYFDVEPSFTVTYGKLVKLLSPKQQQSKTKQNVLSPEKEKQMSEPLDQKKIRSDHN
  EEDEKACVLQVVWNGLEELNNAIKYTKNVEVLHLGKVWIPDDLRKRLNIEMHAVVRITPVEVTPKIPRSLKLQPR
  ENLPKDISEEDIKTVFYSWLQQSTTTMLPLVISEEEFIKLETKDGLKEFSLSIVHSWEKEKDKNIFLLSPNLLQK
  TTIQVLLDPMVKEENSEEIDFILPFLKLSSLGGVNSLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGG
  KGSGKSTLAKAICKEAFDKLDAHVERVDCKALRGKRLENIQKTLEVAFSEAVWMQPSVVLLDDLDLIAGLPAVPE
  HEHSPDAVQSQRLAHALNDMIKEFISMGSLVALIATSQSQQSLHPLLVSAQGVHIFQCVQHIQPPNQEQRCEILC
  NVIKNKLDCDINKFTDLDLQHVAKETGGFVARDFTVLVDRAIHSRLSRQSISTREKLVLTTLDFQKALRGFLPAS
  LRSVNLHKPRDLGWDKIGGLHEVRQILMDTIQLPAKYPELFANLPIRQRTGILLYGPPGTGKTLLAGVIARESRM
  NFISVKGPELLSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRVVNQLLTQLDGVEGLQ
  GVYVLAATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVLSDSLPLADDVDLQHVASVTDSFTGADLKAL
  LYNAQLEALHGMLLSSGLQDGSSSSDSDLSLSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDESKFNM
  YRLYFGSSYESELGNGTSSDLSSQCLSAPSSMTQDLPGVPGKDQLFSQPPVLRTASQEGCQELTQEQRDQLRADI
  SIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDDWKNFAELYESFQNPKRRKNQSGTMFR
  PGQKVTLA

• Structural information:
  • Interpro: IPR003593  IPR041569  IPR009010  IPR003959  IPR003960   IPR029067  IPR027417  IPR015343  IPR015342  IPR025653  
  • Prosite: PS00674
  • STRING: ENSP00000248633
• Other Databases: GeneCards:  PEX1  Malacards:  PEX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016887	ATPase activity	IBA	molecular function
GO:0016558	protein import into peroxisome matrix	IBA	biological process
GO:0005778	peroxisomal membrane	IBA	cellular component
GO:0007031	peroxisome organization	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0006625	protein targeting to peroxisome	IEA	biological process
GO:0007031	peroxisome organization	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0007031	peroxisome organization	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0060152	microtubule-based peroxisome localization	IMP	biological process
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:0005778	peroxisomal membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0060152	microtubule-based peroxisome localization	IMP	biological process
GO:0016887	ATPase activity	IMP	molecular function
GO:0005524	ATP binding	IMP	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0007031	peroxisome organization	IMP	biological process
GO:0006625	protein targeting to peroxisome	IMP	biological process
GO:0016558	protein import into peroxisome matrix	IMP	biological process
GO:0005778	peroxisomal membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006625	protein targeting to peroxisome	IMP	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
Infantile Refsum disease	KEGG:H00204
Peroxisome biogenesis disorder	KEGG:H00205
Zellweger syndrome	KEGG:H01342
Neonatal adrenoleukodystrophy	KEGG:H00177
Infantile Refsum disease	KEGG:H00204
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq