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Protein

Peroxisomal biogenesis factor 3

Gene

PEX3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  • amino acid transmembrane transporter activity Source: GO_Central
  • lipid binding Source: UniProtKB
  • protein dimerization activity Source: UniProtKB

GO - Biological processi

  • amino acid transmembrane transport Source: GO_Central
  • peroxisome membrane biogenesis Source: Ensembl
  • peroxisome organization Source: UniProtKB
  • protein import into peroxisome membrane Source: UniProtKB
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Peroxisome biogenesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000034693-MONOMER.
ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.

Protein family/group databases

TCDBi9.A.17.1.2. the integral membrane peroxisomal protein importer-2 (ppi2) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisomal biogenesis factor 3
Alternative name(s):
Peroxin-3
Peroxisomal assembly protein PEX3
Gene namesi
Name:PEX3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:8858. PEX3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 15CytoplasmicSequence analysisAdd BLAST15
Transmembranei16 – 36HelicalSequence analysisAdd BLAST21
Topological domaini37 – 116PeroxisomalSequence analysisAdd BLAST80
Transmembranei117 – 140HelicalSequence analysisAdd BLAST24
Topological domaini141 – 373CytoplasmicSequence analysisAdd BLAST233

GO - Cellular componenti

  • cytosol Source: Ensembl
  • endoplasmic reticulum Source: UniProtKB
  • integral component of peroxisomal membrane Source: UniProtKB
  • intracellular membrane-bounded organelle Source: HPA
  • membrane Source: UniProtKB
  • nucleoplasm Source: HPA
  • peroxisomal membrane Source: UniProtKB
  • peroxisome Source: UniProtKB
  • protein complex Source: UniProtKB
  • protein-lipid complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder complementation group 12 (PBD-CG12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
See also OMIM:614882
Peroxisome biogenesis disorder 10A (PBD10A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
See also OMIM:614882
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009304138G → E in PBD10A. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi125L → P: Abolishes binding to PEX19 without affecting targeting to peroxisomes; when associated with D-134. 1 Publication1
Mutagenesisi134N → D: Abolishes binding to PEX19 without affecting targeting to peroxisomes; when associated with P-125. 1 Publication1

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

DisGeNETi8504.
MalaCardsiPEX3.
MIMi614882. phenotype.
OpenTargetsiENSG00000034693.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33200.

Polymorphism and mutation databases

BioMutaiPEX3.
DMDMi3914303.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002087371 – 373Peroxisomal biogenesis factor 3Add BLAST373

Proteomic databases

EPDiP56589.
PaxDbiP56589.
PeptideAtlasiP56589.
PRIDEiP56589.

PTM databases

iPTMnetiP56589.
PhosphoSitePlusiP56589.

Expressioni

Tissue specificityi

Found in all examined tissues.

Gene expression databases

BgeeiENSG00000034693.
CleanExiHS_PEX3.
ExpressionAtlasiP56589. baseline and differential.
GenevisibleiP56589. HS.

Organism-specific databases

HPAiHPA042830.
HPA058006.

Interactioni

Subunit structurei

Interacts with PEX19.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PEX19P4085527EBI-594885,EBI-594747

GO - Molecular functioni

  • protein dimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi114076. 8 interactors.
IntActiP56589. 4 interactors.
MINTiMINT-241504.
STRINGi9606.ENSP00000356563.

Structurei

Secondary structure

1373
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi41 – 83Combined sources43
Helixi86 – 93Combined sources8
Helixi100 – 142Combined sources43
Beta strandi147 – 151Combined sources5
Helixi158 – 165Combined sources8
Helixi166 – 168Combined sources3
Helixi169 – 172Combined sources4
Helixi174 – 191Combined sources18
Beta strandi199 – 201Combined sources3
Helixi202 – 217Combined sources16
Helixi234 – 237Combined sources4
Helixi246 – 248Combined sources3
Helixi255 – 271Combined sources17
Helixi274 – 296Combined sources23
Beta strandi319 – 321Combined sources3
Helixi322 – 330Combined sources9
Helixi333 – 336Combined sources4
Turni339 – 341Combined sources3
Helixi344 – 349Combined sources6
Helixi352 – 366Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3AJBX-ray2.50A49-373[»]
3MK4X-ray2.42A41-373[»]
ProteinModelPortaliP56589.
SMRiP56589.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP56589.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 45Targeting to peroxisomesAdd BLAST45
Regioni120 – 136Interaction with PEX19Add BLAST17

Sequence similaritiesi

Belongs to the peroxin-3 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4444. Eukaryota.
ENOG41101IY. LUCA.
GeneTreeiENSGT00390000008481.
HOGENOMiHOG000007212.
HOVERGENiHBG000467.
InParanoidiP56589.
KOiK13336.
OMAiARRQFHF.
OrthoDBiEOG091G1027.
PhylomeDBiP56589.
TreeFamiTF352826.

Family and domain databases

InterProiIPR006966. Peroxin-3.
[Graphical view]
PfamiPF04882. Peroxin-3. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P56589-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLRSVWNFLK RHKKKCIFLG TVLGGVYILG KYGQKKIREI QEREAAEYIA
60 70 80 90 100
QARRQYHFES NQRTCNMTVL SMLPTLREAL MQQLNSESLT ALLKNRPSNK
110 120 130 140 150
LEIWEDLKII SFTRSTVAVY STCMLVVLLR VQLNIIGGYI YLDNAAVGKN
160 170 180 190 200
GTTILAPPDV QQQYLSSIQH LLGDGLTELI TVIKQAVQKV LGSVSLKHSL
210 220 230 240 250
SLLDLEQKLK EIRNLVEQHK SSSWINKDGS KPLLCHYMMP DEETPLAVQA
260 270 280 290 300
CGLSPRDITT IKLLNETRDM LESPDFSTVL NTCLNRGFSR LLDNMAEFFR
310 320 330 340 350
PTEQDLQHGN SMNSLSSVSL PLAKIIPIVN GQIHSVCSET PSHFVQDLLT
360 370
MEQVKDFAAN VYEAFSTPQQ LEK
Length:373
Mass (Da):42,140
Last modified:December 15, 1998 - v1
Checksum:i3515A1F29656B7CC
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05357282Q → R.Corresponds to variant rs35220041dbSNPEnsembl.1
Natural variantiVAR_009304138G → E in PBD10A. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ001625 mRNA. Translation: CAA04879.1.
AJ131389 mRNA. Translation: CAA10362.1.
AJ009866
, AJ009867, AJ009868, AJ009869, AJ009870, AJ009871, AJ009872, AJ009873, AJ009874 Genomic DNA. Translation: CAA08904.1.
AB035307 mRNA. Translation: BAA97993.1.
AY277600 mRNA. Translation: AAQ18039.1.
CR542062 mRNA. Translation: CAG46859.1.
AL031320 Genomic DNA. Translation: CAB53744.1.
CH471051 Genomic DNA. Translation: EAW47866.1.
BC014551 mRNA. Translation: AAH14551.1.
BC015506 mRNA. Translation: AAH15506.1.
CCDSiCCDS5199.1.
RefSeqiNP_003621.1. NM_003630.2.
UniGeneiHs.592832.
Hs.7277.

Genome annotation databases

EnsembliENST00000367591; ENSP00000356563; ENSG00000034693.
GeneIDi8504.
KEGGihsa:8504.
UCSCiuc003qjl.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ001625 mRNA. Translation: CAA04879.1.
AJ131389 mRNA. Translation: CAA10362.1.
AJ009866
, AJ009867, AJ009868, AJ009869, AJ009870, AJ009871, AJ009872, AJ009873, AJ009874 Genomic DNA. Translation: CAA08904.1.
AB035307 mRNA. Translation: BAA97993.1.
AY277600 mRNA. Translation: AAQ18039.1.
CR542062 mRNA. Translation: CAG46859.1.
AL031320 Genomic DNA. Translation: CAB53744.1.
CH471051 Genomic DNA. Translation: EAW47866.1.
BC014551 mRNA. Translation: AAH14551.1.
BC015506 mRNA. Translation: AAH15506.1.
CCDSiCCDS5199.1.
RefSeqiNP_003621.1. NM_003630.2.
UniGeneiHs.592832.
Hs.7277.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3AJBX-ray2.50A49-373[»]
3MK4X-ray2.42A41-373[»]
ProteinModelPortaliP56589.
SMRiP56589.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114076. 8 interactors.
IntActiP56589. 4 interactors.
MINTiMINT-241504.
STRINGi9606.ENSP00000356563.

Protein family/group databases

TCDBi9.A.17.1.2. the integral membrane peroxisomal protein importer-2 (ppi2) family.

PTM databases

iPTMnetiP56589.
PhosphoSitePlusiP56589.

Polymorphism and mutation databases

BioMutaiPEX3.
DMDMi3914303.

Proteomic databases

EPDiP56589.
PaxDbiP56589.
PeptideAtlasiP56589.
PRIDEiP56589.

Protocols and materials databases

DNASUi8504.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367591; ENSP00000356563; ENSG00000034693.
GeneIDi8504.
KEGGihsa:8504.
UCSCiuc003qjl.4. human.

Organism-specific databases

CTDi8504.
DisGeNETi8504.
GeneCardsiPEX3.
GeneReviewsiPEX3.
HGNCiHGNC:8858. PEX3.
HPAiHPA042830.
HPA058006.
MalaCardsiPEX3.
MIMi603164. gene.
614882. phenotype.
neXtProtiNX_P56589.
OpenTargetsiENSG00000034693.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33200.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4444. Eukaryota.
ENOG41101IY. LUCA.
GeneTreeiENSGT00390000008481.
HOGENOMiHOG000007212.
HOVERGENiHBG000467.
InParanoidiP56589.
KOiK13336.
OMAiARRQFHF.
OrthoDBiEOG091G1027.
PhylomeDBiP56589.
TreeFamiTF352826.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000034693-MONOMER.
ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.

Miscellaneous databases

EvolutionaryTraceiP56589.
GeneWikiiPEX3.
GenomeRNAii8504.
PROiP56589.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000034693.
CleanExiHS_PEX3.
ExpressionAtlasiP56589. baseline and differential.
GenevisibleiP56589. HS.

Family and domain databases

InterProiIPR006966. Peroxin-3.
[Graphical view]
PfamiPF04882. Peroxin-3. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPEX3_HUMAN
AccessioniPrimary (citable) accession number: P56589
Secondary accession number(s): Q6FGP5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 15, 1998
Last modified: November 30, 2016
This is version 148 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.