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Protein

Peroxisome biogenesis factor 1

Gene

PEX1

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

Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi599 – 606ATPSequence analysis8
Nucleotide bindingi881 – 888ATPSequence analysis8

<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

  • ATPase activity Source: GO_Central
  • ATPase activity, coupled Source: UniProtKB
  • ATP binding Source: UniProtKB
  • protein-containing complex binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB

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 processPeroxisome biogenesis, Protein transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-9033241 Peroxisomal protein import

SIGNOR Signaling Network Open Resource

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SIGNORi
O43933

Protein family/group databases

Transport Classification Database

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TCDBi
3.A.20.1.1 the peroxisomal protein importer (ppi) family

<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_and_taxonomy_section">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:
Peroxisome biogenesis factor 1
Alternative name(s):
Peroxin-1
Peroxisome biogenesis disorder protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:PEX1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000127980.15

Human Gene Nomenclature Database

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HGNCi
HGNC:8850 PEX1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602136 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43933

<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; 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 complementation group 1 (PBD-CG1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
See also OMIM:214100
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_058376590L → R in PBD-CG1. 1 Publication1
Natural variantiVAR_058377593G → R in PBD-CG1. 1 PublicationCorresponds to variant dbSNP:rs61750407EnsemblClinVar.1
Natural variantiVAR_058378798R → G in PBD-CG1. 1 PublicationCorresponds to variant dbSNP:rs61750419Ensembl.1
Natural variantiVAR_008877843G → D in PBD1A, PBD1B and PBD-CG1. 5 PublicationsCorresponds to variant dbSNP:rs61750420EnsemblClinVar.1
Natural variantiVAR_0758711008Missing in PBD-CG1. 1 Publication1
Natural variantiVAR_0583801237A → E in PBD-CG1. 1 PublicationCorresponds to variant dbSNP:rs1473858573Ensembl.1
Peroxisome biogenesis disorder 1A (PBD1A)3 Publications
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. PBD1A is an autosomal recessive systemic disorder 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.
See also OMIM:214100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014358634 – 690Missing in PBD1A and PBD1B. 1 PublicationAdd BLAST57
Natural variantiVAR_008876664L → P in PBD1A and PBD1B. 1 PublicationCorresponds to variant dbSNP:rs121434455EnsemblClinVar.1
Natural variantiVAR_008877843G → D in PBD1A, PBD1B and PBD-CG1. 5 PublicationsCorresponds to variant dbSNP:rs61750420EnsemblClinVar.1
Peroxisome biogenesis disorder 1B (PBD1B)4 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.
See also OMIM:601539
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014358634 – 690Missing in PBD1A and PBD1B. 1 PublicationAdd BLAST57
Natural variantiVAR_008876664L → P in PBD1A and PBD1B. 1 PublicationCorresponds to variant dbSNP:rs121434455EnsemblClinVar.1
Natural variantiVAR_077503989I → T in PBD1B and HMLR1; mild PBD1B phenotype in a compound heterozygote carrying Q-998. 2 PublicationsCorresponds to variant dbSNP:rs61750427EnsemblClinVar.1
Natural variantiVAR_077504998R → Q in PBD1B; found in a compound heterozygote carrying T-989. 1 PublicationCorresponds to variant dbSNP:rs61750429Ensembl.1
Heimler syndrome 1 (HMLR1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities.
See also OMIM:234580
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074108581R → P in HMLR1; results in mild functional decrease in peroxisome biogenesis. 1 PublicationCorresponds to variant dbSNP:rs370483961EnsemblClinVar.1
Natural variantiVAR_074109705L → W in HMLR1; results in mild functional decrease in peroxisome biogenesis. 1 PublicationCorresponds to variant dbSNP:rs863225084EnsemblClinVar.1
Natural variantiVAR_077503989I → T in PBD1B and HMLR1; mild PBD1B phenotype in a compound heterozygote carrying Q-998. 2 PublicationsCorresponds to variant dbSNP:rs61750427EnsemblClinVar.1

Keywords - Diseasei

Amelogenesis imperfecta, Deafness, Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

DisGeNET

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DisGeNETi
5189

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

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GeneReviewsi
PEX1

MalaCards human disease database

More...
MalaCardsi
PEX1
MIMi214100 phenotype
234580 phenotype
601539 phenotype

Open Targets

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OpenTargetsi
ENSG00000127980

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

More...
Orphaneti
3220 Deafness-enamel hypoplasia-nail defects syndrome
772 Infantile Refsum disease
44 Neonatal adrenoleukodystrophy
912 Zellweger syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33192

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PEX1

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000846041 – 1283Peroxisome biogenesis factor 1Add BLAST1283

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei354PhosphoserineCombined sources1
Modified residuei1181PhosphoserineCombined sources1
Modified residuei1209PhosphoserineCombined sources1
Modified residuei1211PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O43933

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43933

MaxQB - The MaxQuant DataBase

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MaxQBi
O43933

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

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PaxDbi
O43933

PeptideAtlas

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PeptideAtlasi
O43933

PRoteomics IDEntifications database

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PRIDEi
O43933

ProteomicsDB human proteome resource

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ProteomicsDBi
49243

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43933

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

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PhosphoSitePlusi
O43933

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000127980 Expressed in 214 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

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CleanExi
HS_PEX1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43933 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43933 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA020235

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts directly with PEX6. Interacts indirectly with PEX26, via its interaction with PEX6.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
PEX6Q136082EBI-988601,EBI-988581

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111212, 26 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O43933

Protein interaction database and analysis system

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IntActi
O43933, 6 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000248633

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O43933

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

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SMRi
O43933

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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

<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

Belongs to the AAA ATPase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0735 Eukaryota
COG0464 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00550000075032

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000252959

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG008169

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43933

KEGG Orthology (KO)

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KOi
K13338

Identification of Orthologs from Complete Genome Data

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OMAi
SMEHITH

Database of Orthologous Groups

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OrthoDBi
827472at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43933

TreeFam database of animal gene trees

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TreeFami
TF106447

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR009010 Asp_de-COase-like_dom_sf
IPR003959 ATPase_AAA_core
IPR003960 ATPase_AAA_CS
IPR029067 CDC48_domain_2-like_sf
IPR027417 P-loop_NTPase
IPR015343 PEX-N_a/b
IPR015342 PEX-N_psi_beta-barrel
IPR025653 Pex1

The PANTHER Classification System

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PANTHERi
PTHR23077:SF12 PTHR23077:SF12, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF00004 AAA, 2 hits
PF09262 PEX-1N, 1 hit
PF09263 PEX-2N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00382 AAA, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50692 SSF50692, 1 hit
SSF52540 SSF52540, 2 hits
SSF54585 SSF54585, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00674 AAA, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 2 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43933-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MWGSDRLAGA GGGGAAVTVA FTNARDCFLH LPRRLVAQLH LLQNQAIEVV
60 70 80 90 100
WSHQPAFLSW VEGRHFSDQG ENVAEINRQV GQKLGLSNGG QVFLKPCSHV
110 120 130 140 150
VSCQQVEVEP LSADDWEILE LHAVSLEQHL LDQIRIVFPK AIFPVWVDQQ
160 170 180 190 200
TYIFIQIVAL IPAASYGRLE TDTKLLIQPK TRRAKENTFS KADAEYKKLH
210 220 230 240 250
SYGRDQKGMM KELQTKQLQS NTVGITESNE NESEIPVDSS SVASLWTMIG
260 270 280 290 300
SIFSFQSEKK QETSWGLTEI NAFKNMQSKV VPLDNIFRVC KSQPPSIYNA
310 320 330 340 350
SATSVFHKHC AIHVFPWDQE YFDVEPSFTV TYGKLVKLLS PKQQQSKTKQ
360 370 380 390 400
NVLSPEKEKQ MSEPLDQKKI RSDHNEEDEK ACVLQVVWNG LEELNNAIKY
410 420 430 440 450
TKNVEVLHLG KVWIPDDLRK RLNIEMHAVV RITPVEVTPK IPRSLKLQPR
460 470 480 490 500
ENLPKDISEE DIKTVFYSWL QQSTTTMLPL VISEEEFIKL ETKDGLKEFS
510 520 530 540 550
LSIVHSWEKE KDKNIFLLSP NLLQKTTIQV LLDPMVKEEN SEEIDFILPF
560 570 580 590 600
LKLSSLGGVN SLGVSSLEHI THSLLGRPLS RQLMSLVAGL RNGALLLTGG
610 620 630 640 650
KGSGKSTLAK AICKEAFDKL DAHVERVDCK ALRGKRLENI QKTLEVAFSE
660 670 680 690 700
AVWMQPSVVL LDDLDLIAGL PAVPEHEHSP DAVQSQRLAH ALNDMIKEFI
710 720 730 740 750
SMGSLVALIA TSQSQQSLHP LLVSAQGVHI FQCVQHIQPP NQEQRCEILC
760 770 780 790 800
NVIKNKLDCD INKFTDLDLQ HVAKETGGFV ARDFTVLVDR AIHSRLSRQS
810 820 830 840 850
ISTREKLVLT TLDFQKALRG FLPASLRSVN LHKPRDLGWD KIGGLHEVRQ
860 870 880 890 900
ILMDTIQLPA KYPELFANLP IRQRTGILLY GPPGTGKTLL AGVIARESRM
910 920 930 940 950
NFISVKGPEL LSKYIGASEQ AVRDIFIRAQ AAKPCILFFD EFESIAPRRG
960 970 980 990 1000
HDNTGVTDRV VNQLLTQLDG VEGLQGVYVL AATSRPDLID PALLRPGRLD
1010 1020 1030 1040 1050
KCVYCPPPDQ VSRLEILNVL SDSLPLADDV DLQHVASVTD SFTGADLKAL
1060 1070 1080 1090 1100
LYNAQLEALH GMLLSSGLQD GSSSSDSDLS LSSMVFLNHS SGSDDSAGDG
1110 1120 1130 1140 1150
ECGLDQSLVS LEMSEILPDE SKFNMYRLYF GSSYESELGN GTSSDLSSQC
1160 1170 1180 1190 1200
LSAPSSMTQD LPGVPGKDQL FSQPPVLRTA SQEGCQELTQ EQRDQLRADI
1210 1220 1230 1240 1250
SIIKGRYRSQ SGEDESMNQP GPIKTRLAIS QSHLMTALGH TRPSISEDDW
1260 1270 1280
KNFAELYESF QNPKRRKNQS GTMFRPGQKV TLA
Length:1,283
Mass (Da):142,867
Last modified:June 1, 1998 - v1
<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:i333CE0B15D2E2017
GO
Isoform 2 (identifier: O43933-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     92-413: Missing.

Note: No experimental confirmation available.
Show »
Length:961
Mass (Da):105,999
Checksum:iE768626F405F9534
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DG33A0A0C4DG33_HUMAN
Peroxisome biogenesis factor 1, iso...
PEX1 hCG_19541
1,226Annotation 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>
H7BZH3H7BZH3_HUMAN
Peroxisome biogenesis factor 1
PEX1
196Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB46346 differs from that shown. Reason: Erroneous gene model prediction.Curated

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 conflicti79Q → R in BAG58539 (PubMed:14702039).1
Sequence conflicti897E → G in BAG58539 (PubMed:14702039).1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074108581R → P in HMLR1; results in mild functional decrease in peroxisome biogenesis. 1 PublicationCorresponds to variant dbSNP:rs370483961EnsemblClinVar.1
Natural variantiVAR_058376590L → R in PBD-CG1. 1 Publication1
Natural variantiVAR_058377593G → R in PBD-CG1. 1 PublicationCorresponds to variant dbSNP:rs61750407EnsemblClinVar.1
Natural variantiVAR_014358634 – 690Missing in PBD1A and PBD1B. 1 PublicationAdd BLAST57
Natural variantiVAR_048113640I → R. Corresponds to variant dbSNP:rs4559173Ensembl.1
Natural variantiVAR_008876664L → P in PBD1A and PBD1B. 1 PublicationCorresponds to variant dbSNP:rs121434455EnsemblClinVar.1
Natural variantiVAR_034376696I → M2 PublicationsCorresponds to variant dbSNP:rs35996821EnsemblClinVar.1
Natural variantiVAR_074109705L → W in HMLR1; results in mild functional decrease in peroxisome biogenesis. 1 PublicationCorresponds to variant dbSNP:rs863225084EnsemblClinVar.1
Natural variantiVAR_058378798R → G in PBD-CG1. 1 PublicationCorresponds to variant dbSNP:rs61750419Ensembl.1
Natural variantiVAR_008877843G → D in PBD1A, PBD1B and PBD-CG1. 5 PublicationsCorresponds to variant dbSNP:rs61750420EnsemblClinVar.1
Natural variantiVAR_058379948R → Q1 PublicationCorresponds to variant dbSNP:rs535271603EnsemblClinVar.1
Natural variantiVAR_077503989I → T in PBD1B and HMLR1; mild PBD1B phenotype in a compound heterozygote carrying Q-998. 2 PublicationsCorresponds to variant dbSNP:rs61750427EnsemblClinVar.1
Natural variantiVAR_077504998R → Q in PBD1B; found in a compound heterozygote carrying T-989. 1 PublicationCorresponds to variant dbSNP:rs61750429Ensembl.1
Natural variantiVAR_0758711008Missing in PBD-CG1. 1 Publication1
Natural variantiVAR_0583801237A → E in PBD-CG1. 1 PublicationCorresponds to variant dbSNP:rs1473858573Ensembl.1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05713692 – 413Missing in isoform 2. 1 PublicationAdd BLAST322

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF030356 mRNA Translation: AAB99758.1
AF026086 mRNA Translation: AAB87880.1
AB008112 mRNA Translation: BAA85162.1
AB052090 mRNA Translation: BAB59061.1
AB052091 mRNA Translation: BAB59062.1
AB052092 mRNA Translation: BAB59063.1
AK292955 mRNA Translation: BAF85644.1
AK295686 mRNA Translation: BAG58539.1
AC007566 Genomic DNA No translation available.
AC000064 Genomic DNA Translation: AAB46346.1 Sequence problems.
KF458517 Genomic DNA No translation available.
CH236949 Genomic DNA Translation: EAL24149.1
CH471091 Genomic DNA Translation: EAW76840.1
BC035575 mRNA Translation: AAH35575.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS5627.1 [O43933-1]

NCBI Reference Sequences

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RefSeqi
NP_000457.1, NM_000466.2 [O43933-1]
NP_001269606.1, NM_001282677.1
NP_001269607.1, NM_001282678.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.164682

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000248633; ENSP00000248633; ENSG00000127980 [O43933-1]
ENST00000438045; ENSP00000410438; ENSG00000127980 [O43933-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5189

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5189

UCSC genome browser

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UCSCi
uc003uly.4 human [O43933-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

dbPEX, PEX Gene Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF030356 mRNA Translation: AAB99758.1
AF026086 mRNA Translation: AAB87880.1
AB008112 mRNA Translation: BAA85162.1
AB052090 mRNA Translation: BAB59061.1
AB052091 mRNA Translation: BAB59062.1
AB052092 mRNA Translation: BAB59063.1
AK292955 mRNA Translation: BAF85644.1
AK295686 mRNA Translation: BAG58539.1
AC007566 Genomic DNA No translation available.
AC000064 Genomic DNA Translation: AAB46346.1 Sequence problems.
KF458517 Genomic DNA No translation available.
CH236949 Genomic DNA Translation: EAL24149.1
CH471091 Genomic DNA Translation: EAW76840.1
BC035575 mRNA Translation: AAH35575.1
CCDSiCCDS5627.1 [O43933-1]
RefSeqiNP_000457.1, NM_000466.2 [O43933-1]
NP_001269606.1, NM_001282677.1
NP_001269607.1, NM_001282678.1
UniGeneiHs.164682

3D structure databases

ProteinModelPortaliO43933
SMRiO43933
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111212, 26 interactors
CORUMiO43933
IntActiO43933, 6 interactors
STRINGi9606.ENSP00000248633

Protein family/group databases

TCDBi3.A.20.1.1 the peroxisomal protein importer (ppi) family

PTM databases

iPTMnetiO43933
PhosphoSitePlusiO43933

Polymorphism and mutation databases

BioMutaiPEX1

Proteomic databases

EPDiO43933
jPOSTiO43933
MaxQBiO43933
PaxDbiO43933
PeptideAtlasiO43933
PRIDEiO43933
ProteomicsDBi49243

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5189
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000248633; ENSP00000248633; ENSG00000127980 [O43933-1]
ENST00000438045; ENSP00000410438; ENSG00000127980 [O43933-2]
GeneIDi5189
KEGGihsa:5189
UCSCiuc003uly.4 human [O43933-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5189
DisGeNETi5189
EuPathDBiHostDB:ENSG00000127980.15

GeneCards: human genes, protein and diseases

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GeneCardsi
PEX1
GeneReviewsiPEX1
HGNCiHGNC:8850 PEX1
HPAiHPA020235
MalaCardsiPEX1
MIMi214100 phenotype
234580 phenotype
601539 phenotype
602136 gene
neXtProtiNX_O43933
OpenTargetsiENSG00000127980
Orphaneti3220 Deafness-enamel hypoplasia-nail defects syndrome
772 Infantile Refsum disease
44 Neonatal adrenoleukodystrophy
912 Zellweger syndrome
PharmGKBiPA33192

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0735 Eukaryota
COG0464 LUCA
GeneTreeiENSGT00550000075032
HOGENOMiHOG000252959
HOVERGENiHBG008169
InParanoidiO43933
KOiK13338
OMAiSMEHITH
OrthoDBi827472at2759
PhylomeDBiO43933
TreeFamiTF106447

Enzyme and pathway databases

ReactomeiR-HSA-9033241 Peroxisomal protein import
SIGNORiO43933

Miscellaneous databases

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

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ChiTaRSi
PEX1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PEX1

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

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GenomeRNAii
5189

Protein Ontology

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PROi
PR:O43933

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127980 Expressed in 214 organ(s), highest expression level in corpus callosum
CleanExiHS_PEX1
ExpressionAtlasiO43933 baseline and differential
GenevisibleiO43933 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR009010 Asp_de-COase-like_dom_sf
IPR003959 ATPase_AAA_core
IPR003960 ATPase_AAA_CS
IPR029067 CDC48_domain_2-like_sf
IPR027417 P-loop_NTPase
IPR015343 PEX-N_a/b
IPR015342 PEX-N_psi_beta-barrel
IPR025653 Pex1
PANTHERiPTHR23077:SF12 PTHR23077:SF12, 2 hits
PfamiView protein in Pfam
PF00004 AAA, 2 hits
PF09262 PEX-1N, 1 hit
PF09263 PEX-2N, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF50692 SSF50692, 1 hit
SSF52540 SSF52540, 2 hits
SSF54585 SSF54585, 1 hit
PROSITEiView protein in PROSITE
PS00674 AAA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiPEX1_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: O43933
Secondary accession number(s): A4D1G3
, A8KA90, B4DIM7, E9PE75, Q96S71, Q96S72, Q96S73, Q99994
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 1, 1998
Last modified: January 16, 2019
This is version 174 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  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
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