• Gene id: 5192

Gene Summary

• Gene Symbol: PEX10   Gene   UCSC   Ensembl
• Aliases: NALD, PBD6A, PBD6B, RNF69
• Gene name: peroxisomal biogenesis factor 10
• Alternate names: peroxisome biogenesis factor 10, RING finger protein 69, peroxin 10, peroxisome assembly protein 10,
• Gene location: 1p36.32 (2412573: 2404801)     Exons: 7     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from
• OMIM: 602859

SNPs

rs1129332

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

NC_000001.11   g.2404771C>T
NC_000001.10   g.2336210C>T
NG_016128.1   g.17997C>T
NM_007033.5   c.*1647C>T
NM_007033.4   c.*1647C>T
NG_008342.1   g.12801G>A
NM_002617.4   c.*995G>A
NM_153818.2   c.*995G>A
NM_001374426.1   c.*995G>A
NM_001374427.1   c.*995G>A
NM_001374425  

Protein Summary

• Protein general information: O60683  
  • Name: Peroxisome biogenesis factor 10 (Peroxin 10) (Peroxisomal biogenesis factor 10) (Peroxisome assembly protein 10) (RING finger protein 69)
  • Length: 326  
  • Mass: 37,069
• Sequence:

  MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGARKWLEWRKEVELLSDVAYFGLTTLAGYQTLGEEYVS
  IIQVDPSRIHVPSSLRRGVLVTLHAVLPYLLDKALLPLEQELQADPDSGRPLQGSLGPGGRGCSGARRWMRHHTA
  TLTEQQRRALLRAVFVLRQGLACLQRLHVAWFYIHGVFYHLAKRLTGITYLRVRSLPGEDLRARVSYRLLGVISL
  LHLVLSMGLQLYGFRQRQRARKEWRLHRGLSHRRASLEERAVSRNPLCTLCLEERRHPTATPCGHLFCWECITAW
  CSSKAECPLCREKFPPQKLIYLRHYR

• Structural information:
  • Interpro: IPR025654  IPR006845  IPR001841  IPR013083  IPR017907  
  • Prosite: PS00518 PS50089
• Other Databases: GeneCards:  PEX10  Malacards:  PEX10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0005779	integral component of peroxisomal membrane	IEA	cellular component
GO:0005779	integral component of peroxisomal membrane	IDA	cellular component
GO:0007031	peroxisome organization	IDA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
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	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0005779	integral component of peroxisomal membrane	IEA	cellular component
GO:0005779	integral component of peroxisomal membrane	IDA	cellular component
GO:0007031	peroxisome organization	IEA	biological process
GO:0007031	peroxisome organization	IEA	biological process
GO:0007031	peroxisome organization	IDA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016558	protein import into peroxisome matrix	IEA	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	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005777	peroxisome	IDA	cellular component
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0005779	integral component of peroxisomal membrane	IDA	cellular component
GO:0007031	peroxisome organization	IDA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
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	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Maple syrup urine disease	KEGG: H00172
Zellweger syndrome	KEGG: H01342
Non obstructive azoospermia	MIK: 22197933
Spermatogenesis defects	MIK: 24303009
Oligozoospermia	MIK: 24303009
Azoospermia	MIK: 24303009
Peroxisome biogenesis disorder	KEGG: H00205
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Low sperm motility	MIK: 21674046
Non-obstructive azoospermia	MIK: 22197933
Non-obstructive azoospermia	MIK: 30863997
Oligoasthenozoospermia, Male infertility	MIK: 27232852
Spermatogenic impairment, azoospermia, oligozoospermia	MIK: 24303009
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24303009	Spermatogenic impairment, azoospermia, oligozoospermia	rs3791185 and rs2232015 in PRMT6, rs146039840 and rs11046992 in Sox5, rs1129332 in PEX10, rs3197744 in SIRPA, rs1048055 in SIRPG		1376 (784 individuals with oligozoospermia, 592 healthy controls)	Male infertility
22197933	Non-obstructive azoospermia			8661 (2,927 individuals with NOA, 5,734 controls)	Male infertility	PRMT6 PEX10 SOX5
27232852	Oligoasthenozoospermia, Male infertility	rs2477686 in PEX10	Chinese Han	592 (456 healthy fertile men, 136 subfertile men)	Male infertility
30863997	Non-obstructive azoospermia	rs2477686	Chinese	1351 (631 infertile men (NOA and oligozoospermia) and 720 healthy fertile men)	Male infertility
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)
21674046	Low sperm motility			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881