Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8504
Gene name	Peroxisomal biogenesis factor 3
Gene symbol	PEX3
Synonyms (NCBI Gene)	PBD10APBD10BTRG18
Chromosome	6
Chromosome location	6q24.2
Summary	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

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41285015	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147556993	C>A,T	Pathogenic, benign	Coding sequence variant, synonymous variant, stop gained
rs200807211	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201179294	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608193	T>G	Pathogenic	Intron variant
rs752904598	G>A	Pathogenic	Splice acceptor variant
rs758701470	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1057523689	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1562653663	TAAG>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1562654527	G>A	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (38)

miRTarBase ID	miRNA	Experiments	Reference
MIRT238882	hsa-miR-1183	PAR-CLIP	22100165
MIRT446022	hsa-miR-4301	PAR-CLIP	22100165
MIRT238876	hsa-miR-20b-3p	PAR-CLIP	22100165
MIRT238900	hsa-miR-4703-3p	PAR-CLIP	22100165
MIRT238889	hsa-miR-3156-3p	PAR-CLIP	22100165
MIRT238882	hsa-miR-1183	PAR-CLIP	22100165
MIRT446022	hsa-miR-4301	PAR-CLIP	22100165
MIRT238876	hsa-miR-20b-3p	PAR-CLIP	22100165
MIRT238900	hsa-miR-4703-3p	PAR-CLIP	22100165
MIRT238889	hsa-miR-3156-3p	PAR-CLIP	22100165
MIRT238882	hsa-miR-1183	PAR-CLIP	22100165
MIRT446022	hsa-miR-4301	PAR-CLIP	22100165
MIRT238876	hsa-miR-20b-3p	PAR-CLIP	22100165
MIRT238900	hsa-miR-4703-3p	PAR-CLIP	22100165
MIRT238889	hsa-miR-3156-3p	PAR-CLIP	22100165
MIRT238882	hsa-miR-1183	PAR-CLIP	22100165
MIRT446022	hsa-miR-4301	PAR-CLIP	22100165
MIRT238876	hsa-miR-20b-3p	PAR-CLIP	22100165
MIRT238900	hsa-miR-4703-3p	PAR-CLIP	22100165
MIRT238889	hsa-miR-3156-3p	PAR-CLIP	22100165
MIRT2066019	hsa-miR-3161	CLIP-seq
MIRT2293651	hsa-miR-223	CLIP-seq
MIRT2293652	hsa-miR-3135b	CLIP-seq
MIRT2293653	hsa-miR-3928	CLIP-seq
MIRT2293654	hsa-miR-4328	CLIP-seq
MIRT2293655	hsa-miR-4716-5p	CLIP-seq
MIRT2293656	hsa-miR-4803	CLIP-seq
MIRT2293657	hsa-miR-765	CLIP-seq
MIRT2456269	hsa-miR-29a	CLIP-seq
MIRT2456270	hsa-miR-29b	CLIP-seq
MIRT2456271	hsa-miR-29c	CLIP-seq
MIRT2456272	hsa-miR-3065-5p	CLIP-seq
MIRT2456273	hsa-miR-3613-3p	CLIP-seq
MIRT2456269	hsa-miR-29a	CLIP-seq
MIRT2456270	hsa-miR-29b	CLIP-seq
MIRT2456271	hsa-miR-29c	CLIP-seq
MIRT2456272	hsa-miR-3065-5p	CLIP-seq
MIRT2456273	hsa-miR-3613-3p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	10704444, 11883941, 12096124, 16189514, 16280322, 18174172, 19715730, 21102411, 25416956, 25502805, 27107012, 28514442, 29997244, 31467278, 31515488, 32296183, 32814053, 33961781, 35271311, 37398436, 38225382
GO:0005654	Component	Nucleoplasm	IDA
GO:0005777	Component	Peroxisome	IDA	9922452
GO:0005777	Component	Peroxisome	IEA
GO:0005777	Component	Peroxisome	IMP	12924628
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	9657383, 10430017
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	19479899, 21768384
GO:0007031	Process	Peroxisome organization	IEA
GO:0007031	Process	Peroxisome organization	IMP	10958759, 12924628, 18174172, 19479899
GO:0008289	Function	Lipid binding	IDA	19715730
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0032991	Component	Protein-containing complex	IDA	18174172
GO:0032994	Component	Protein-lipid complex	IDA	19715730
GO:0045046	Process	Protein import into peroxisome membrane	IBA
GO:0045046	Process	Protein import into peroxisome membrane	IMP	15007061

MIM	HGNC	e!Ensembl
603164	8858	ENSG00000034693

P56589

Protein name

Peroxisomal biogenesis factor 3 (Peroxin-3) (Peroxisomal assembly protein PEX3)

Protein function

Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes. {ECO:0000

PDB

3AJB , 3MK4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04882	Peroxin-3	7 → 100	Peroxin-3	Family
PF04882	Peroxin-3	94 → 364	Peroxin-3	Family

Tissue specificity

TISSUE SPECIFICITY: Found in all examined tissues.

Sequence

MLRSVWNFLKRHKKKCIFLGTVLGGVYILGKYGQKKIREIQEREAAEYIAQARRQYHFES
NQRTCNMTVLSMLPTLREALMQQLNSESLTALLKNRPSNKLEIWEDLKIISFTRSTVAVY
STCMLVVLLRVQLNIIGGYIYLDNAAVGKNGTTILAPPDVQQQYLSSIQHLLGDGLTELI
TVIKQAVQKVLGSVSLKHSLSLLDLEQKLKEIRNLVEQHKSSSWINKDGSKPLLCHYMMP
DEETPLAVQACGLSPRDITTIKLLNETRDMLESPDFSTVLNTCLNRGFSRLLDNMAEFFR
PTEQDLQHGNSMNSLSSVSLPLAKIIPIVNGQIHSVCSETPSHFVQDLLTMEQVKDFAAN
VYEAFSTPQQLEK

Sequence length

373

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		ABC transporters in lipid homeostasis Class I peroxisomal membrane protein import

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Peroxisome biogenesis disorder	Pathogenic; Likely pathogenic	rs1243154971, rs2537199055, rs2537193194	RCV003479376 RCV003155779 RCV003230991
Peroxisome biogenesis disorder 10A (Zellweger)	Likely pathogenic; Pathogenic	rs1473197986, rs62641230, rs150841396, rs1411756701, rs752904598, rs267608193, rs748689554	RCV001376168 RCV000006997 RCV003388694 RCV003990120 RCV004559642 RCV000006998 RCV001250050
Peroxisome biogenesis disorder 10B	Pathogenic	rs201179294	RCV000444777
Peroxisome biogenesis disorder 1A (Zellweger)	Pathogenic	rs267608193	RCV000778169
PEX3-related disorder	Likely pathogenic; Pathogenic	rs752904598	RCV003396309

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs774963514	RCV005913956
Uterine corpus endometrial carcinoma	Uncertain significance	rs973425116	RCV005930467

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Ovarian Epithelial	Associate	33676525
Infections	Associate	34524914
Melanoma	Associate	30622661, 37616051
Neoplasms	Associate	37616051
Zellweger Syndrome	Associate	10871277, 10958759, 34884833

PEX3 (peroxisomal biogenesis factor 3)