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Entry version 206 (22 Apr 2020)
Sequence version 3 (12 Dec 2006)
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Protein

Peroxisomal targeting signal 1 receptor

Gene

PEX5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P50542

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Peroxisomal targeting signal 1 receptor
Short name:
PTS1 receptor
Short name:
PTS1R
Alternative name(s):
PTS1-BP
Peroxin-5
Peroxisomal C-terminal targeting signal import receptor
Peroxisome receptor 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PEX5
Synonyms:PXR1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9719 PEX5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600414 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P50542

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Peroxisome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Peroxisome biogenesis disorder 2A (PBD2A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
Related information in OMIM
Peroxisome biogenesis disorder 2B (PBD2B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_007543526N → K in PBD2B; neonatal adrenoleukodystrophy; strongly affects peroxisomal protein import. 2 PublicationsCorresponds to variant dbSNP:rs61752138EnsemblClinVar.1
Natural variantiVAR_031328600S → W in PBD2B; infantile Refsum disease; mildly affects peroxisomal protein import. 1 Publication1
Rhizomelic chondrodysplasia punctata 5 (RCDP5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi118W → A: Strongly reduced interaction with PEX14. 1 Publication1
Mutagenesisi122F → A: Strongly reduced interaction with PEX14. 1 Publication1

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Rhizomelic chondrodysplasia punctata, Zellweger syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
5830

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PEX5

MalaCards human disease database

More...
MalaCardsi
PEX5
MIMi202370 phenotype
214110 phenotype
616716 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000139197

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
772 Infantile Refsum disease
44 Neonatal adrenoleukodystrophy
468717 Rhizomelic chondrodysplasia punctata type 5
912 Zellweger syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34063

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P50542 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PEX5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
119364633

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001063051 – 639Peroxisomal targeting signal 1 receptorAdd BLAST639

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki11Glycyl cysteine thioester (Cys-Gly) (interchain with G-Cter in ubiquitin)By similarity
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei115PhosphoserineCombined sources1
Modified residuei153PhosphoserineCombined sources1
Modified residuei155PhosphoserineCombined sources1
Modified residuei167PhosphoserineCombined sources1
Modified residuei279PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Monoubiquitination at Cys-11 is required for proper export from peroxisomes and recycling.By similarity

Keywords - PTMi

Phosphoprotein, Thioester bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P50542

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P50542

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P50542

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P50542

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P50542

PeptideAtlas

More...
PeptideAtlasi
P50542

PRoteomics IDEntifications database

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PRIDEi
P50542

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56239 [P50542-1]
56240 [P50542-2]
56241 [P50542-3]
56242 [P50542-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P50542

MetOSite database of methionine sulfoxide sites

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MetOSitei
P50542

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P50542

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000139197 Expressed in medial globus pallidus and 229 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P50542 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P50542 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000139197 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PEX7 and PEX13 (By similarity).

Interacts with PEX12 and PEX14.

Interacts (Cys-linked ubiquitinated) with ZFAND6.

Interacts with VWA8 in a PEX7-dependent manner (By similarity).

By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111788, 105 interactors

Database of interacting proteins

More...
DIPi
DIP-34654N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P50542

Protein interaction database and analysis system

More...
IntActi
P50542, 60 interactors

Molecular INTeraction database

More...
MINTi
P50542

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000391601

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P50542 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1639
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P50542

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P50542

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati335 – 368TPR 1Add BLAST34
Repeati369 – 402TPR 2Add BLAST34
Repeati403 – 436TPR 3Add BLAST34
Repeati452 – 485TPR 4Add BLAST34
Repeati488 – 521TPR 5Add BLAST34
Repeati522 – 555TPR 6Add BLAST34
Repeati556 – 589TPR 7Add BLAST34

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1125 Eukaryota
ENOG410XQ6Q LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156605

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_013516_4_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P50542

KEGG Orthology (KO)

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KOi
K13342

Database of Orthologous Groups

More...
OrthoDBi
588648at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P50542

TreeFam database of animal gene trees

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TreeFami
TF315044

Family and domain databases

Database of protein disorder

More...
DisProti
DP00472

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR024113 PTS1R
IPR024111 PTS1R_family
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat

The PANTHER Classification System

More...
PANTHERi
PTHR10130 PTHR10130, 1 hit
PTHR10130:SF2 PTHR10130:SF2, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF13181 TPR_8, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00028 TPR, 4 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48452 SSF48452, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50005 TPR, 5 hits
PS50293 TPR_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P50542-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAMRELVEAE CGGANPLMKL AGHFTQDKAL RQEGLRPGPW PPGAPASEAA
60 70 80 90 100
SKPLGVASED ELVAEFLQDQ NAPLVSRAPQ TFKMDDLLAE MQQIEQSNFR
110 120 130 140 150
QAPQRAPGVA DLALSENWAQ EFLAAGDAVD VTQDYNETDW SQEFISEVTD
160 170 180 190 200
PLSVSPARWA EEYLEQSEEK LWLGEPEGTA TDRWYDEYHP EEDLQHTASD
210 220 230 240 250
FVAKVDDPKL ANSEFLKFVR QIGEGQVSLE SGAGSGRAQA EQWAAEFIQQ
260 270 280 290 300
QGTSDAWVDQ FTRPVNTSAL DMEFERAKSA IESDVDFWDK LQAELEEMAK
310 320 330 340 350
RDAEAHPWLS DYDDLTSATY DKGYQFEEEN PLRDHPQPFE EGLRRLQEGD
360 370 380 390 400
LPNAVLLFEA AVQQDPKHME AWQYLGTTQA ENEQELLAIS ALRRCLELKP
410 420 430 440 450
DNQTALMALA VSFTNESLQR QACETLRDWL RYTPAYAHLV TPAEEGAGGA
460 470 480 490 500
GLGPSKRILG SLLSDSLFLE VKELFLAAVR LDPTSIDPDV QCGLGVLFNL
510 520 530 540 550
SGEYDKAVDC FTAALSVRPN DYLLWNKLGA TLANGNQSEE AVAAYRRALE
560 570 580 590 600
LQPGYIRSRY NLGISCINLG AHREAVEHFL EALNMQRKSR GPRGEGGAMS
610 620 630
ENIWSTLRLA LSMLGQSDAY GAADARDLST LLTMFGLPQ
Length:639
Mass (Da):70,865
Last modified:December 12, 2006 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9D6951F58AED31AC
GO
Isoform 2 (identifier: P50542-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-251: Missing.

Show »
Length:602
Mass (Da):66,830
Checksum:iEA4E6FAAF5E11C55
GO
Isoform 3 (identifier: P50542-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     283-290: Missing.

Show »
Length:631
Mass (Da):69,872
Checksum:i9F3B705D888C484B
GO
Isoform 4 (identifier: P50542-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-45: P → PASEAVSVLEVESPGA

Show »
Length:654
Mass (Da):72,291
Checksum:iCF2055CBD6902BFE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4E0T2B4E0T2_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
660Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KPV0J3KPV0_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
410Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H3X7F5H3X7_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
248Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GZ41F5GZ41_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GYB4F5GYB4_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H0L9F5H0L9_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
118Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H5C0F5H5C0_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
272Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H205F5H205_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
114Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GXX3F5GXX3_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
104Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H432F5H432_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti425T → I in AAC50103 (PubMed:7719337).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007543526N → K in PBD2B; neonatal adrenoleukodystrophy; strongly affects peroxisomal protein import. 2 PublicationsCorresponds to variant dbSNP:rs61752138EnsemblClinVar.1
Natural variantiVAR_031328600S → W in PBD2B; infantile Refsum disease; mildly affects peroxisomal protein import. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04363945P → PASEAVSVLEVESPGA in isoform 4. 1 Publication1
Alternative sequenceiVSP_021880215 – 251Missing in isoform 2. 3 PublicationsAdd BLAST37
Alternative sequenceiVSP_024106283 – 290Missing in isoform 3. 1 Publication8

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U19721 mRNA Translation: AAC50103.1
Z48054 mRNA Translation: CAA88131.1
X84899 mRNA Translation: CAA59324.1
AK292256 mRNA Translation: BAF84945.1
AK302742 mRNA Translation: BAG63957.1
AK316250 mRNA Translation: BAH14621.1
AC018653 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88671.1
CH471116 Genomic DNA Translation: EAW88674.1
CH471116 Genomic DNA Translation: EAW88672.1
BC010621 mRNA Translation: AAH10621.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44822.1 [P50542-4]
CCDS44823.1 [P50542-1]
CCDS44824.1 [P50542-2]
CCDS73433.1 [P50542-1]
CCDS8576.1 [P50542-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
A56126

NCBI Reference Sequences

More...
RefSeqi
NP_000310.2, NM_000319.4 [P50542-3]
NP_001124495.1, NM_001131023.1 [P50542-4]
NP_001124496.1, NM_001131024.1 [P50542-2]
NP_001124497.1, NM_001131025.1 [P50542-1]
NP_001124498.1, NM_001131026.1 [P50542-1]
NP_001287718.1, NM_001300789.1 [P50542-1]
XP_011519097.1, XM_011520795.1 [P50542-4]
XP_011519099.1, XM_011520797.1
XP_011519100.1, XM_011520798.1
XP_011519101.1, XM_011520799.2
XP_011519102.1, XM_011520800.1
XP_016875237.1, XM_017019748.1 [P50542-4]
XP_016875238.1, XM_017019749.1 [P50542-1]
XP_016875239.1, XM_017019750.1
XP_016875241.1, XM_017019752.1
XP_016875242.1, XM_017019753.1
XP_016875243.1, XM_017019754.1
XP_016875244.1, XM_017019755.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000266563; ENSP00000266563; ENSG00000139197 [P50542-2]
ENST00000266564; ENSP00000266564; ENSG00000139197 [P50542-3]
ENST00000420616; ENSP00000410159; ENSG00000139197 [P50542-1]
ENST00000434354; ENSP00000407401; ENSG00000139197 [P50542-4]
ENST00000455147; ENSP00000400647; ENSG00000139197 [P50542-1]
ENST00000671993; ENSP00000500509; ENSG00000288217 [P50542-1]
ENST00000672242; ENSP00000500696; ENSG00000288217 [P50542-2]
ENST00000672541; ENSP00000500043; ENSG00000288217 [P50542-4]
ENST00000672694; ENSP00000499823; ENSG00000288217 [P50542-1]
ENST00000672776; ENSP00000500230; ENSG00000288217 [P50542-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5830

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5830

UCSC genome browser

More...
UCSCi
uc001qsu.4 human [P50542-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U19721 mRNA Translation: AAC50103.1
Z48054 mRNA Translation: CAA88131.1
X84899 mRNA Translation: CAA59324.1
AK292256 mRNA Translation: BAF84945.1
AK302742 mRNA Translation: BAG63957.1
AK316250 mRNA Translation: BAH14621.1
AC018653 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88671.1
CH471116 Genomic DNA Translation: EAW88674.1
CH471116 Genomic DNA Translation: EAW88672.1
BC010621 mRNA Translation: AAH10621.1
CCDSiCCDS44822.1 [P50542-4]
CCDS44823.1 [P50542-1]
CCDS44824.1 [P50542-2]
CCDS73433.1 [P50542-1]
CCDS8576.1 [P50542-3]
PIRiA56126
RefSeqiNP_000310.2, NM_000319.4 [P50542-3]
NP_001124495.1, NM_001131023.1 [P50542-4]
NP_001124496.1, NM_001131024.1 [P50542-2]
NP_001124497.1, NM_001131025.1 [P50542-1]
NP_001124498.1, NM_001131026.1 [P50542-1]
NP_001287718.1, NM_001300789.1 [P50542-1]
XP_011519097.1, XM_011520795.1 [P50542-4]
XP_011519099.1, XM_011520797.1
XP_011519100.1, XM_011520798.1
XP_011519101.1, XM_011520799.2
XP_011519102.1, XM_011520800.1
XP_016875237.1, XM_017019748.1 [P50542-4]
XP_016875238.1, XM_017019749.1 [P50542-1]
XP_016875239.1, XM_017019750.1
XP_016875241.1, XM_017019752.1
XP_016875242.1, XM_017019753.1
XP_016875243.1, XM_017019754.1
XP_016875244.1, XM_017019755.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FCHX-ray2.20A/B272-639[»]
2C0LX-ray2.30A335-639[»]
2C0MX-ray2.50A/B/C/F321-639[»]
2J9QX-ray2.65A/B315-639[»]
2W84NMR-B108-127[»]
3R9AX-ray2.35B/D315-639[»]
4BXUNMR-B57-71[»]
4KXKX-ray2.90B/D315-639[»]
4KYOX-ray2.20B/D315-639[»]
SMRiP50542
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi111788, 105 interactors
DIPiDIP-34654N
ELMiP50542
IntActiP50542, 60 interactors
MINTiP50542
STRINGi9606.ENSP00000391601

PTM databases

iPTMnetiP50542
MetOSiteiP50542
PhosphoSitePlusiP50542

Polymorphism and mutation databases

BioMutaiPEX5
DMDMi119364633

Proteomic databases

EPDiP50542
jPOSTiP50542
MassIVEiP50542
MaxQBiP50542
PaxDbiP50542
PeptideAtlasiP50542
PRIDEiP50542
ProteomicsDBi56239 [P50542-1]
56240 [P50542-2]
56241 [P50542-3]
56242 [P50542-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
22900 255 antibodies

The DNASU plasmid repository

More...
DNASUi
5830

Genome annotation databases

EnsembliENST00000266563; ENSP00000266563; ENSG00000139197 [P50542-2]
ENST00000266564; ENSP00000266564; ENSG00000139197 [P50542-3]
ENST00000420616; ENSP00000410159; ENSG00000139197 [P50542-1]
ENST00000434354; ENSP00000407401; ENSG00000139197 [P50542-4]
ENST00000455147; ENSP00000400647; ENSG00000139197 [P50542-1]
ENST00000671993; ENSP00000500509; ENSG00000288217 [P50542-1]
ENST00000672242; ENSP00000500696; ENSG00000288217 [P50542-2]
ENST00000672541; ENSP00000500043; ENSG00000288217 [P50542-4]
ENST00000672694; ENSP00000499823; ENSG00000288217 [P50542-1]
ENST00000672776; ENSP00000500230; ENSG00000288217 [P50542-3]
GeneIDi5830
KEGGihsa:5830
UCSCiuc001qsu.4 human [P50542-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5830
DisGeNETi5830

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PEX5
GeneReviewsiPEX5
HGNCiHGNC:9719 PEX5
HPAiENSG00000139197 Low tissue specificity
MalaCardsiPEX5
MIMi202370 phenotype
214110 phenotype
600414 gene
616716 phenotype
neXtProtiNX_P50542
OpenTargetsiENSG00000139197
Orphaneti772 Infantile Refsum disease
44 Neonatal adrenoleukodystrophy
468717 Rhizomelic chondrodysplasia punctata type 5
912 Zellweger syndrome
PharmGKBiPA34063

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1125 Eukaryota
ENOG410XQ6Q LUCA
GeneTreeiENSGT00940000156605
HOGENOMiCLU_013516_4_0_1
InParanoidiP50542
KOiK13342
OrthoDBi588648at2759
PhylomeDBiP50542
TreeFamiTF315044

Enzyme and pathway databases

ReactomeiR-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
SIGNORiP50542

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PEX5 human
EvolutionaryTraceiP50542

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PEX5

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5830
PharosiP50542 Tbio

Protein Ontology

More...
PROi
PR:P50542
RNActiP50542 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000139197 Expressed in medial globus pallidus and 229 other tissues
ExpressionAtlasiP50542 baseline and differential
GenevisibleiP50542 HS

Family and domain databases

DisProtiDP00472
Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR024113 PTS1R
IPR024111 PTS1R_family
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PANTHERiPTHR10130 PTHR10130, 1 hit
PTHR10130:SF2 PTHR10130:SF2, 1 hit
PfamiView protein in Pfam
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 4 hits
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 5 hits
PS50293 TPR_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPEX5_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P50542
Secondary accession number(s): A8K891
, B4DZ45, B7ZAD5, D3DUT8, Q15115, Q15266, Q96FN7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 12, 2006
Last modified: April 22, 2020
This is version 206 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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