Format

Send to:

Choose Destination

PEX3 peroxisomal biogenesis factor 3 [ Homo sapiens (human) ]

Gene ID: 8504, updated on 17-Dec-2019

Summary

Official Symbol
PEX3provided by HGNC
Official Full Name
peroxisomal biogenesis factor 3provided by HGNC
Primary source
HGNC:HGNC:8858
See related
Ensembl:ENSG00000034693 MIM:603164
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TRG18; PBD10A; PBD10B
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 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]
Expression
Ubiquitous expression in adrenal (RPKM 15.6), thyroid (RPKM 9.4) and 25 other tissues See more
Orthologs

Genomic context

See PEX3 in Genome Data Viewer
Location:
6q24.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (143450805..143490616)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (143771918..143811753)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene adenosine deaminase tRNA specific 2 Neighboring gene tubulin beta 8 class VIII pseudogene 2 Neighboring gene RNA, 5S ribosomal pseudogene 221 Neighboring gene voltage dependent anion channel 1 pseudogene 8 Neighboring gene alpha-L-fucosidase 2 Neighboring gene uncharacterized LOC105378035

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13531, DKFZp686N14184

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein dimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
peroxisome membrane biogenesis IEA
Inferred from Electronic Annotation
more info
 
peroxisome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into peroxisome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein import into peroxisome membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
peroxisomal membrane HDA PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
protein-lipid complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
peroxisomal biogenesis factor 3
Names
peroxin-3
peroxisomal assembly protein PEX3
transformation-related protein 18

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008459.1 RefSeqGene

    Range
    5025..44836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003630.3NP_003621.1  peroxisomal biogenesis factor 3

    See identical proteins and their annotated locations for NP_003621.1

    Status: REVIEWED

    Source sequence(s)
    AL031320, AU137342, BC015506, BP377713, DB576209
    Consensus CDS
    CCDS5199.1
    UniProtKB/Swiss-Prot
    P56589
    Related
    ENSP00000356563.4, ENST00000367591.5
    Conserved Domains (1) summary
    pfam04882
    Location:11362
    Peroxin-3; Peroxin-3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    143450805..143490616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center