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Aliases for PEX3 Gene

Aliases for PEX3 Gene

  • Peroxisomal Biogenesis Factor 3 2 3 5
  • Peroxisomal Assembly Protein PEX3 3 4
  • Peroxin-3 3 4
  • Transformation-Related Protein 18 3
  • PBD10A 3
  • PBD10B 3
  • TRG18 3

External Ids for PEX3 Gene

Previous GeneCards Identifiers for PEX3 Gene

  • GC06P143395
  • GC06P143619
  • GC06P143752
  • GC06P143813
  • GC06P143772
  • GC06P141335

Summaries for PEX3 Gene

Entrez Gene Summary for PEX3 Gene

  • 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 peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

GeneCards Summary for PEX3 Gene

PEX3 (Peroxisomal Biogenesis Factor 3) is a Protein Coding gene. Diseases associated with PEX3 include Peroxisome Biogenesis Disorder 10A and Peroxisome Biogenesis Disorder 1B. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Peroxisome. GO annotations related to this gene include protein dimerization activity and amino acid transmembrane transporter activity.

UniProtKB/Swiss-Prot for PEX3 Gene

  • 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.

Gene Wiki entry for PEX3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX3 Gene

Genomics for PEX3 Gene

Regulatory Elements for PEX3 Gene

Enhancers for PEX3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G143449 1.5 FANTOM5 ENCODE 5.9 -0.1 -75 3.0 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 LTV1 ENSG00000270890 VDAC1P8 TUBB8P2 PEX3 ADAT2 RNA5SP221
GH06G143288 0.7 ENCODE 4.6 -162.0 -161994 1.5 FEZF1 ATF2 PRDM6 ZNF316 BCL11A SMARCA4 ZSCAN5C NFE2 MAFK WT1 PEX3 ENSG00000217495 ENSG00000225752
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PEX3 on UCSC Golden Path with GeneCards custom track

Promoters for PEX3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000204323 -81 2201 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for PEX3 Gene

Chromosome:
6
Start:
143,450,781 bp from pter
End:
143,490,616 bp from pter
Size:
39,836 bases
Orientation:
Plus strand

Genomic View for PEX3 Gene

Genes around PEX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX3 Gene

Proteins for PEX3 Gene

  • Protein details for PEX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56589-PEX3_HUMAN
    Recommended name:
    Peroxisomal biogenesis factor 3
    Protein Accession:
    P56589
    Secondary Accessions:
    • Q6FGP5

    Protein attributes for PEX3 Gene

    Size:
    373 amino acids
    Molecular mass:
    42140 Da
    Quaternary structure:
    • Interacts with PEX19.

    Three dimensional structures from OCA and Proteopedia for PEX3 Gene

neXtProt entry for PEX3 Gene

Post-translational modifications for PEX3 Gene

  • Ubiquitination at posLast=100100 and Lys262
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PEX3 Gene

Domains & Families for PEX3 Gene

Gene Families for PEX3 Gene

Protein Domains for PEX3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PEX3 Gene

Graphical View of Domain Structure for InterPro Entry

P56589

UniProtKB/Swiss-Prot:

PEX3_HUMAN :
  • Belongs to the peroxin-3 family.
Family:
  • Belongs to the peroxin-3 family.
genes like me logo Genes that share domains with PEX3: view

Function for PEX3 Gene

Molecular function for PEX3 Gene

GENATLAS Biochemistry:
peroxin 3,peroxisomal biogenesis factor 3
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for PEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10704444
GO:0008289 lipid binding IDA 19715730
GO:0046983 protein dimerization activity IDA 19715730
genes like me logo Genes that share ontologies with PEX3: view
genes like me logo Genes that share phenotypes with PEX3: view

Human Phenotype Ontology for PEX3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX3 Gene

MGI Knock Outs for PEX3:
  • Pex3 tm1a(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PEX3

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX3 Gene

Localization for PEX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX3 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEX3 gene
Compartment Confidence
peroxisome 5
nucleus 5
endoplasmic reticulum 5
cytosol 3
mitochondrion 2
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for PEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005777 peroxisome IMP,IDA 12924628
GO:0005778 peroxisomal membrane TAS --
GO:0005779 integral component of peroxisomal membrane IDA 9657383
GO:0005783 endoplasmic reticulum IDA 19479899
genes like me logo Genes that share ontologies with PEX3: view

Pathways & Interactions for PEX3 Gene

genes like me logo Genes that share pathways with PEX3: view

Pathways by source for PEX3 Gene

Gene Ontology (GO) - Biological Process for PEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007031 peroxisome organization IMP 10958759
GO:0016557 peroxisome membrane biogenesis IEA --
GO:0045046 protein import into peroxisome membrane IMP 15007061
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with PEX3: view

No data available for SIGNOR curated interactions for PEX3 Gene

Transcripts for PEX3 Gene

mRNA/cDNA for PEX3 Gene

Unigene Clusters for PEX3 Gene

Peroxisomal biogenesis factor 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PEX3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2: -
SP3: - -
SP4:

Relevant External Links for PEX3 Gene

GeneLoc Exon Structure for
PEX3
ECgene alternative splicing isoforms for
PEX3

Expression for PEX3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX3 Gene

mRNA differential expression in normal tissues according to GTEx for PEX3 Gene

This gene is overexpressed in Adrenal Gland (x4.1).

Protein differential expression in normal tissues from HIPED for PEX3 Gene

This gene is overexpressed in Breast (31.4) and Bone (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PEX3 Gene



Protein tissue co-expression partners for PEX3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PEX3 Gene:

PEX3

SOURCE GeneReport for Unigene cluster for PEX3 Gene:

Hs.7277

mRNA Expression by UniProt/SwissProt for PEX3 Gene:

P56589-PEX3_HUMAN
Tissue specificity: Found in all examined tissues.

Evidence on tissue expression from TISSUES for PEX3 Gene

  • Liver(4.3)
  • Skin(4.2)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • scalp
  • skull
  • tongue
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PEX3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PEX3 Gene

Orthologs for PEX3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX3 34 35
  • 99.82 (n)
cow
(Bos Taurus)
Mammalia PEX3 34 35
  • 93.48 (n)
dog
(Canis familiaris)
Mammalia PEX3 34 35
  • 92.94 (n)
oppossum
(Monodelphis domestica)
Mammalia PEX3 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex3 34 16 35
  • 88.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PEX3 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex3 34
  • 87.46 (n)
chicken
(Gallus gallus)
Aves PEX3 34 35
  • 79.77 (n)
lizard
(Anolis carolinensis)
Reptilia PEX3 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex3 34
  • 71.75 (n)
Str.3981 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11335 34
zebrafish
(Danio rerio)
Actinopterygii pex3 34 35
  • 69.91 (n)
zgc56313 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10419 34
fruit fly
(Drosophila melanogaster)
Insecta Pex3 34 35
  • 47.35 (n)
CG6859 36
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002507 34
  • 44.64 (n)
worm
(Caenorhabditis elegans)
Secernentea prx-3 35
  • 24 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16963g 34
  • 46.67 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX3 34
  • 42.09 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR296C 34
  • 38.87 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX3-1 34
  • 45.22 (n)
rice
(Oryza sativa)
Liliopsida Os09g0314300 34
  • 45.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06175 34
  • 42.19 (n)
Species where no ortholog for PEX3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEX3 Gene

ENSEMBL:
Gene Tree for PEX3 (if available)
TreeFam:
Gene Tree for PEX3 (if available)

Paralogs for PEX3 Gene

No data available for Paralogs for PEX3 Gene

Variants for PEX3 Gene

Sequence variations from dbSNP and Humsavar for PEX3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_009304 Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882]
rs10809 Likely benign 143,489,772(+) GAAAT(A/G)GTGAA utr-variant-3-prime
rs184934783 Likely benign 143,450,846(+) AAGCG(C/G/T)AGCTG upstream-variant-2KB, utr-variant-5-prime
rs35220041 Likely benign 143,462,955(-) GTTGC(C/T)GCATT reference, missense
rs113147921 Uncertain significance 143,471,088(+) ACTGT(A/G)AGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PEX3 Gene

Variant ID Type Subtype PubMed ID
nsv965776 CNV duplication 23825009

Variation tolerance for PEX3 Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX3 Gene

Human Gene Mutation Database (HGMD)
PEX3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX3 Gene

Disorders for PEX3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PEX3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 10a
  • pbd10a
peroxisome biogenesis disorder 1b
  • infantile refsum disease
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
peroxisome biogenesis disorders, zellweger syndrome spectrum
  • zellweger syndrome
zellweger syndrome
  • cerebrohepatorenal syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PEX3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX3_HUMAN
  • Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882]: A 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. {ECO:0000269 PubMed:10848631, ECO:0000269 PubMed:10958759}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:614882]: A 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). {ECO:0000269 PubMed:10958759}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX3
genes like me logo Genes that share disorders with PEX3: view

No data available for Genatlas for PEX3 Gene

Publications for PEX3 Gene

  1. PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins. (PMID: 15007061) Fang Y. … Gould S.J. (J. Cell Biol. 2004) 3 4 22 64
  2. The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes. (PMID: 10679269) Muntau A.C. … Kammerer S. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 64
  3. The peroxin pex3p initiates membrane assembly in peroxisome biogenesis. (PMID: 10848631) Ghaedi K. … Fujiki Y. (Mol. Biol. Cell 2000) 3 4 22 64
  4. Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. (PMID: 10958759) Muntau A.C. … Roscher A.A. (Am. J. Hum. Genet. 2000) 3 4 22 64
  5. Identification and characterization of the human peroxin PEX3. (PMID: 10430017) Soukupova M. … Dodt G. (Eur. J. Cell Biol. 1999) 3 4 22 64

Products for PEX3 Gene

Sources for PEX3 Gene

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