Gene : PEX5

Symbol :	PEX5
Name/description :	peroxisomal biogenesis factor 5
Synonyms :	PXR1, PTS1R, PTS1-BP, FLJ50634, FLJ50721, FLJ51948
Organism :	Homo sapiens
Peroxisomal Localization :	GO: No Peroxisomal annotation GFP: No experiment found Mass Spectrometry: No experiment found PeroxisomeDB annotation
Protein family :	PEX5
Protein consensus sequence :	MAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASEDELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLAAGDAVDVTQDYNETDWSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAKVDDPKLANSEFLKFVRQIGEGQVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIELQAELEEMAKRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEEAVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIWSTLRLALSMLGQSDAYGAADARDLSTLLTMFGLPQ
Functional category(ies) :	Peroxisome biogenesis (peroxins) Peroxisome targeting sequence binding
Disease(s) :	Zellweger syndrome Neonatal adrenoleukodystrophy Infantile Refsum disease
Comparative genomics:	PTS prediction Blastp PsiBlast Alignment Phylogenetic tree [help] PhylomeDB
Gene Info:	Gene Summary (NCBI) Genome Browser (UCSC) Chromosomal Localization (NCBI) ENSEMBL SNPs (NCBI) Intron/Exon (Ace View: NCBI) Gene Expression (UCSC) Protein Properties (UCSC) Conserved Domains (NCBI) Orthologue Prediction (NCBI)
Pubmed:	Janet Ebberink, et al.2009. Hum. Mutat. Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines. Cécile Brocard, et al.2006. Biochim. Biophys. Acta Peroxisome targeting signal 1: is it really a simple tripeptide? Harper Harper, et al.2003. J. Biol. Chem. PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12. J Saidowsky, et al.2001. J. Biol. Chem. The di-aromatic pentapeptide repeats of the human peroxisome import receptor PEX5 are separate high affinity binding sites for the peroxisomal membrane protein PEX14. Gatto Gatto, et al.2000. Nat. Struct. Biol. Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5.