Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PEX5 (peroxisomal biogenesis factor 5)

Identity

Other namesPBD2A
PBD2B
PTS1-BP
PTS1R
PXR1
HGNC (Hugo) PEX5
LocusID (NCBI) 5830
Location 12p13.31
Location_base_pair Starts at 7342958 and ends at 7364079 bp from pter ( according to hg19-Feb_2009)
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
Entrez_Gene (NCBI)PEX5  5830  peroxisomal biogenesis factor 5
Cards
GeneCards (Weizmann)PEX5
Ensembl (Hinxton)ENSG00000139197 [Gene_View]  chr12:7342958-7364079 [Contig_View]  PEX5 [Vega]
AceView (NCBI)PEX5
Genatlas (Paris)PEX5
SOURCE (Stanford)NM_000319 NM_001131023 NM_001131024 NM_001131025 NM_001131026
Genomic and cartography
GoldenPath (UCSC)PEX5  -  12p13.31   chr12:7342958-7364079 +  12p13.31   [Description]    (hg19-Feb_2009)
EnsemblPEX5 - 12p13.31 [CytoView]
Mapping of homologs : NCBIPEX5 [Mapview]
OMIM202370   214100   214110   600414   
Gene and transcription
Genbank (Entrez)AI252784 AK225126 AK292256 AK299105 AK299534
RefSeq transcript (SRS)NM_000319 NM_001131023 NM_001131024 NM_001131025 NM_001131026
RefSeq transcript (Entrez)NM_000319 NM_001131023 NM_001131024 NM_001131025 NM_001131026
RefSeq genomic (SRS)AC_000144 NC_000012 NC_018923 NG_008448 NT_009714 NW_001838051 NW_004078074
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_008448 NT_009714 NW_001838051 NW_004078074
Consensus coding sequences : CCDS (NCBI)PEX5
Cluster EST : UnigeneHs.567327 [ SRS ] Hs.567327 [ NCBI ]
CGAP (NCI)Hs.567327
Alternative Splicing : Fast-db (Paris)GSHG0006437
Alternative Splicing GalleryENSG00000139197
Gene ExpressionPEX5 [ NCBI-GEO ]   PEX5 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50542 (SRS) P50542 (Uniprot)
NextProtP50542
With graphics : InterProP50542
Splice isoforms : SwissVarP50542(Swissvar)
Domaine pattern : Prosite (SRS)TPR (PS50005)    TPR_REGION (PS50293)   
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (SRS)PTS1R_family    TPR-1    TPR-contain_dom    TPR-like_helical    TPR_repeat   
Domains : Interpro (EBI)PTS1R_family    TPR-1    TPR-contain_dom    TPR-like_helical    TPR_repeat   
Related proteins : CluSTrP50542
Domain families : Pfam (SRS)TPR_1 (PF00515)   
Domain families : Pfam (Sanger)TPR_1 (PF00515)   
Domain families : Pfam (NCBI)pfam00515   
Domain families : Smart (EMBL)TPR (SM00028)  
DMDM5830
Blocks (Seattle)P50542
PDB (SRS)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A   
PDB (PDBSum)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A   
PDB (IMB)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A   
PDB (RSDB)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A   
Human Protein AtlasENSG00000139197
HPRD02684
IPIIPI00384805   IPI00032931   IPI00165272   IPI00940679   IPI01014958   IPI01013421   IPI01015527   IPI01011166   IPI01011658   IPI01012149   IPI00909113   IPI01009543   IPI01010005   IPI01010493   IPI01014871   IPI01010028   
Protein Interaction databases
DIP (DOE-UCLA)P50542
IntAct (EBI)P50542
FunCoupENSG00000139197
REACTOMEPEX5
Protein Interaction Database5830
BioGRIDPEX5
InParanoidP50542
Interologous Interaction database P50542
IntegromeDBPEX5
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PEX5
SNP (GeneSNP Utah)PEX5
SNP : HGBasePEX5
Genetic variants : HAPMAPPEX5
Somatic Mutations in Cancer : COSMICPEX5 
CONAN: Copy Number AnalysisPEX5 
Translocation Breakpoints in Cancer : TICdbPEX5 
Mutations and Diseases : HGMDPEX5
OMIM202370    214100    214110    600414   
GENETests202370    214100    214110    600414   
Disease Genetic AssociationPEX5
Huge Navigator PEX5 [HugePedia]  PEX5 [HugeCancerGEM]
Genomic VariantsPEX5  PEX5 [DGVbeta]
snp3D : Map Gene to Disease5830
General knowledge
Homologs : HomoloGenePEX5
Homology/Alignments : Family Browser (UCSC)PEX5
Phylogenetic Trees/Animal Genes : TreeFamPEX5
Chemical/Protein Interactions : CTD5830
Chemical/Pharm GKB GenePA34063
Clinical trialPEX5
Cancer Resource (Charite)ENSG00000139197
Ontology : AmiGOvery long-chain fatty acid metabolic process  peroxisome targeting sequence binding  neuron migration  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  protein binding  cytoplasm  mitochondrion  peroxisome  peroxisomal membrane  peroxisomal matrix  Golgi apparatus  cytosol  cytosol  protein targeting to peroxisome  protein targeting to peroxisome  fatty acid beta-oxidation  mitochondrial membrane organization  endoplasmic reticulum organization  protein C-terminus binding  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, translocation  enzyme binding  cerebral cortex cell migration  cerebral cortex neuron differentiation  small GTPase binding  positive regulation of multicellular organism growth  protein complex  protein import into peroxisome membrane  protein N-terminus binding  cell development  neuromuscular process  protein tetramerization  negative regulation of protein homotetramerization  
Ontology : EGO-EBIvery long-chain fatty acid metabolic process  peroxisome targeting sequence binding  neuron migration  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  protein binding  cytoplasm  mitochondrion  peroxisome  peroxisomal membrane  peroxisomal matrix  Golgi apparatus  cytosol  cytosol  protein targeting to peroxisome  protein targeting to peroxisome  fatty acid beta-oxidation  mitochondrial membrane organization  endoplasmic reticulum organization  protein C-terminus binding  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, translocation  enzyme binding  cerebral cortex cell migration  cerebral cortex neuron differentiation  small GTPase binding  positive regulation of multicellular organism growth  protein complex  protein import into peroxisome membrane  protein N-terminus binding  cell development  neuromuscular process  protein tetramerization  negative regulation of protein homotetramerization  
Other databases
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
PubGenePEX5
iHOPPEX5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:44:49 CEST 2013

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