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PEX5 (peroxisomal biogenesis factor 5)

Identity

Alias (NCBI)PBD2A
PBD2B
PTS1-BP
PTS1R
PXR1
RCDP5
HGNC (Hugo) PEX5
HGNC Alias symbPTS1R
HGNC Alias nameperoxisomal targeting signal 1 receptor
 peroxisomal import receptor 5
HGNC Previous namePXR1
HGNC Previous nameperoxisome receptor 1
LocusID (NCBI) 5830
Atlas_Id 45552
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 7189686 and ends at 7211459 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
LOC100507373 (19p13.12) / PEX5 (12p13.31)NCBP2 (3q29) / PEX5 (12p13.31)PEX5 (12p13.31) / CEP192 (18p11.21)
PEX5 (12p13.31) / CLSTN3 (12p13.31)PEX5 (12p13.31) / DENND1C (19p13.3)PEX5 (12p13.31) / LPL (8p21.3)
PEX5 (12p13.31) / PLP2 (Xp11.23)PEX5 12p13.31 / CLSTN3 12p13.31

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PEX5   9719
Cards
Entrez_Gene (NCBI)PEX5    peroxisomal biogenesis factor 5
AliasesPBD2A; PBD2B; PTS1-BP; PTS1R; 
PXR1; RCDP5
GeneCards (Weizmann)PEX5
Ensembl hg19 (Hinxton)ENSG00000139197 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139197 [Gene_View]  ENSG00000139197 [Sequence]  chr12:7189686-7211459 [Contig_View]  PEX5 [Vega]
ICGC DataPortalENSG00000139197
TCGA cBioPortalPEX5
AceView (NCBI)PEX5
Genatlas (Paris)PEX5
SOURCE (Princeton)PEX5
Genetics Home Reference (NIH)PEX5
Genomic and cartography
GoldenPath hg38 (UCSC)PEX5  -     chr12:7189686-7211459 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PEX5  -     12p13.31   [Description]    (hg19-Feb_2009)
GoldenPathPEX5 - 12p13.31 [CytoView hg19]  PEX5 - 12p13.31 [CytoView hg38]
ImmunoBaseENSG00000139197
Genome Data Viewer NCBIPEX5 [Mapview hg19]  
OMIM202370   214110   600414   616716   
Gene and transcription
Genbank (Entrez)AI252784 AK225126 AK292256 AK299105 AK299534
RefSeq transcript (Entrez)NM_000319 NM_001131023 NM_001131024 NM_001131025 NM_001131026 NM_001300789 NM_001351124 NM_001351126 NM_001351127 NM_001351128 NM_001351130 NM_001351131 NM_001351132 NM_001351133 NM_001351134 NM_001351135 NM_001351136 NM_001351137 NM_001351138 NM_001351139 NM_001351140 NM_001374645 NM_001374646 NM_001374647 NM_001374648 NM_001374649
Consensus coding sequences : CCDS (NCBI)PEX5
Gene ExpressionPEX5 [ NCBI-GEO ]   PEX5 [ EBI - ARRAY_EXPRESS ]   PEX5 [ SEEK ]   PEX5 [ MEM ]
Gene Expression Viewer (FireBrowse)PEX5 [ Firebrowse - Broad ]
GenevisibleExpression of PEX5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5830
GTEX Portal (Tissue expression)PEX5
Human Protein AtlasENSG00000139197-PEX5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50542   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50542  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50542
PhosPhoSitePlusP50542
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)PTS1R    PTS1R_family    TPR-contain_dom    TPR-like_helical_dom_sf    TPR_repeat   
Domain families : Pfam (Sanger)TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam13181   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)PEX5
PDB (RSDB)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
PDB Europe1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
PDB (PDBSum)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
PDB (IMB)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
Structural Biology KnowledgeBase1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
SCOP (Structural Classification of Proteins)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
CATH (Classification of proteins structures)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
SuperfamilyP50542
AlphaFold pdb e-kbP50542   
Human Protein Atlas [tissue]ENSG00000139197-PEX5 [tissue]
HPRD02684
Protein Interaction databases
DIP (DOE-UCLA)P50542
IntAct (EBI)P50542
BioGRIDPEX5
STRING (EMBL)PEX5
ZODIACPEX5
Ontologies - Pathways
QuickGOP50542
Ontology : AmiGOperoxisome targeting sequence binding  pexophagy  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  protein binding  cytoplasm  peroxisome  peroxisomal membrane  peroxisomal membrane  peroxisomal membrane  Golgi apparatus  cytosol  cytosol  cytosol  protein localization  membrane  protein import into peroxisome matrix  protein import into peroxisome matrix  protein import into peroxisome matrix  protein import into peroxisome matrix, docking  protein import into peroxisome matrix, docking  protein ubiquitination  enzyme binding  small GTPase binding  negative regulation of protein-containing complex assembly  protein-containing complex  peroxisome membrane targeting sequence binding  protein import into peroxisome membrane  protein N-terminus binding  protein sequestering activity  
Ontology : EGO-EBIperoxisome targeting sequence binding  pexophagy  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  protein binding  cytoplasm  peroxisome  peroxisomal membrane  peroxisomal membrane  peroxisomal membrane  Golgi apparatus  cytosol  cytosol  cytosol  protein localization  membrane  protein import into peroxisome matrix  protein import into peroxisome matrix  protein import into peroxisome matrix  protein import into peroxisome matrix, docking  protein import into peroxisome matrix, docking  protein ubiquitination  enzyme binding  small GTPase binding  negative regulation of protein-containing complex assembly  protein-containing complex  peroxisome membrane targeting sequence binding  protein import into peroxisome membrane  protein N-terminus binding  protein sequestering activity  
Pathways : KEGGPeroxisome   
NDEx NetworkPEX5
Atlas of Cancer Signalling NetworkPEX5
Wikipedia pathwaysPEX5
Orthology - Evolution
OrthoDB5830
GeneTree (enSembl)ENSG00000139197
Phylogenetic Trees/Animal Genes : TreeFamPEX5
Homologs : HomoloGenePEX5
Homology/Alignments : Family Browser (UCSC)PEX5
Gene fusions - Rearrangements
Fusion : MitelmanPEX5/CLSTN3 [12p13.31/12p13.31]  
Fusion : MitelmanPEX5/LPL [12p13.31/8p21.3]  
Fusion : QuiverPEX5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX5
dbVarPEX5
ClinVarPEX5
MonarchPEX5
1000_GenomesPEX5 
Exome Variant ServerPEX5
GNOMAD BrowserENSG00000139197
Varsome BrowserPEX5
ACMGPEX5 variants
VarityP50542
Genomic Variants (DGV)PEX5 [DGVbeta]
DECIPHERPEX5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPEX5 
Mutations
ICGC Data PortalPEX5 
TCGA Data PortalPEX5 
Broad Tumor PortalPEX5
OASIS PortalPEX5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPEX5
Mutations and Diseases : HGMDPEX5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPEX5
DgiDB (Drug Gene Interaction Database)PEX5
DoCM (Curated mutations)PEX5
CIViC (Clinical Interpretations of Variants in Cancer)PEX5
Cancer3DPEX5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM202370    214110    600414    616716   
Orphanet225    410    5016   
DisGeNETPEX5
MedgenPEX5
Genetic Testing Registry PEX5
NextProtP50542 [Medical]
GENETestsPEX5
Target ValidationPEX5
Huge Navigator PEX5 [HugePedia]
ClinGenPEX5
Clinical trials, drugs, therapy
MyCancerGenomePEX5
Protein Interactions : CTDPEX5
Pharm GKB GenePA34063
PharosP50542
Clinical trialPEX5
Miscellaneous
canSAR (ICR)PEX5
HarmonizomePEX5
DataMed IndexPEX5
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPEX5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:24:57 CEST 2021

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