Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PEX1 (peroxisomal biogenesis factor 1)

Identity

Alias_namesZWS1
ZWS
peroxisome biogenesis factor 1
Zellweger syndrome 1
Zellweger syndrome
Other aliasHMLR1
PBD1A
PBD1B
HGNC (Hugo) PEX1
LocusID (NCBI) 5189
Atlas_Id 71831
Location 7q21.2  [Link to chromosome band 7q21]
Location_base_pair Starts at 92487023 and ends at 92528531 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)
PEX1 (7q21.2) / NBEA (13q13.3)PEX1 (7q21.2) / PEX1 (7q21.2)PRPF8 (17p13.3) / PEX1 (7q21.2)

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)PEX1   8850
Cards
Entrez_Gene (NCBI)PEX1  5189  peroxisomal biogenesis factor 1
AliasesHMLR1; PBD1A; PBD1B; ZWS; 
ZWS1
GeneCards (Weizmann)PEX1
Ensembl hg19 (Hinxton)ENSG00000127980 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127980 [Gene_View]  ENSG00000127980 [Sequence]  chr7:92487023-92528531 [Contig_View]  PEX1 [Vega]
ICGC DataPortalENSG00000127980
TCGA cBioPortalPEX1
AceView (NCBI)PEX1
Genatlas (Paris)PEX1
WikiGenes5189
SOURCE (Princeton)PEX1
Genetics Home Reference (NIH)PEX1
Genomic and cartography
GoldenPath hg38 (UCSC)PEX1  -     chr7:92487023-92528531 -  7q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PEX1  -     7q21.2   [Description]    (hg19-Feb_2009)
GoldenPathPEX1 - 7q21.2 [CytoView hg19]  PEX1 - 7q21.2 [CytoView hg38]
ImmunoBaseENSG00000127980
Mapping of homologs : NCBIPEX1 [Mapview hg19]  PEX1 [Mapview hg38]
OMIM214100   234580   601539   602136   
Gene and transcription
Genbank (Entrez)AA490966 AB008112 AB052090 AB052091 AB052092
RefSeq transcript (Entrez)NM_000466 NM_001282677 NM_001282678
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PEX1
Cluster EST : UnigeneHs.164682 [ NCBI ]
CGAP (NCI)Hs.164682
Alternative Splicing GalleryENSG00000127980
Gene ExpressionPEX1 [ NCBI-GEO ]   PEX1 [ EBI - ARRAY_EXPRESS ]   PEX1 [ SEEK ]   PEX1 [ MEM ]
Gene Expression Viewer (FireBrowse)PEX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5189
GTEX Portal (Tissue expression)PEX1
Human Protein AtlasENSG00000127980-PEX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43933   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43933  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43933
Splice isoforms : SwissVarO43933
PhosPhoSitePlusO43933
Domaine pattern : Prosite (Expaxy)AAA (PS00674)   
Domains : Interpro (EBI)AAA+_ATPase    Asp_de-COase-like_dom_sf    ATPase_AAA_core    ATPase_AAA_CS    CDC48_domain_2-like_sf    P-loop_NTPase    PEX-N_a/b    PEX-N_psi_beta-barrel    Pex1   
Domain families : Pfam (Sanger)AAA (PF00004)    PEX-1N (PF09262)    PEX-2N (PF09263)   
Domain families : Pfam (NCBI)pfam00004    pfam09262    pfam09263   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)PEX1
DMDM Disease mutations5189
Blocks (Seattle)PEX1
SuperfamilyO43933
Human Protein Atlas [tissue]ENSG00000127980-PEX1 [tissue]
Peptide AtlasO43933
HPRD03682
IPIIPI00411291   IPI01011800   IPI00556503   IPI00924762   IPI00924956   IPI00925164   
Protein Interaction databases
DIP (DOE-UCLA)O43933
IntAct (EBI)O43933
FunCoupENSG00000127980
BioGRIDPEX1
STRING (EMBL)PEX1
ZODIACPEX1
Ontologies - Pathways
QuickGOO43933
Ontology : AmiGOprotein binding  ATP binding  cytoplasm  peroxisome  peroxisomal membrane  peroxisomal membrane  peroxisomal membrane  cytosol  cytosol  cytosol  protein targeting to peroxisome  protein targeting to peroxisome  peroxisome organization  peroxisome organization  protein C-terminus binding  protein import into peroxisome matrix  protein import into peroxisome matrix  ATPase activity  ATPase activity, coupled  protein-containing complex binding  microtubule-based peroxisome localization  extracellular exosome  
Ontology : EGO-EBIprotein binding  ATP binding  cytoplasm  peroxisome  peroxisomal membrane  peroxisomal membrane  peroxisomal membrane  cytosol  cytosol  cytosol  protein targeting to peroxisome  protein targeting to peroxisome  peroxisome organization  peroxisome organization  protein C-terminus binding  protein import into peroxisome matrix  protein import into peroxisome matrix  ATPase activity  ATPase activity, coupled  protein-containing complex binding  microtubule-based peroxisome localization  extracellular exosome  
NDEx NetworkPEX1
Atlas of Cancer Signalling NetworkPEX1
Wikipedia pathwaysPEX1
Orthology - Evolution
OrthoDB5189
GeneTree (enSembl)ENSG00000127980
Phylogenetic Trees/Animal Genes : TreeFamPEX1
HOGENOMO43933
Homologs : HomoloGenePEX1
Homology/Alignments : Family Browser (UCSC)PEX1
Gene fusions - Rearrangements
Fusion : QuiverPEX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX1
dbVarPEX1
ClinVarPEX1
1000_GenomesPEX1 
Exome Variant ServerPEX1
ExAC (Exome Aggregation Consortium)ENSG00000127980
GNOMAD BrowserENSG00000127980
Varsome BrowserPEX1
Genetic variants : HAPMAP5189
Genomic Variants (DGV)PEX1 [DGVbeta]
DECIPHERPEX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPEX1 
Mutations
ICGC Data PortalPEX1 
TCGA Data PortalPEX1 
Broad Tumor PortalPEX1
OASIS PortalPEX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPEX1
Mutations and Diseases : HGMDPEX1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PEX1
DgiDB (Drug Gene Interaction Database)PEX1
DoCM (Curated mutations)PEX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEX1 (select a term)
intoGenPEX1
Cancer3DPEX1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM214100    234580    601539    602136   
Orphanet225    410    2877    5016   
DisGeNETPEX1
MedgenPEX1
Genetic Testing Registry PEX1
NextProtO43933 [Medical]
TSGene5189
GENETestsPEX1
Target ValidationPEX1
Huge Navigator PEX1 [HugePedia]
snp3D : Map Gene to Disease5189
BioCentury BCIQPEX1
ClinGenPEX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5189
Chemical/Pharm GKB GenePA33192
Clinical trialPEX1
Miscellaneous
canSAR (ICR)PEX1 (select the gene name)
DataMed IndexPEX1
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEX1
EVEXPEX1
GoPubMedPEX1
iHOPPEX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 16:00:49 CEST 2019
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