Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 182 (12 Aug 2020)
Sequence version 2 (08 Dec 2000)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Peroxisome assembly factor 2

Gene

PEX6

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

Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. 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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi470 – 477ATPSequence analysis8
Nucleotide bindingi744 – 751ATPSequence 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

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
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q13608

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-9033241, Peroxisomal protein import

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q13608

Protein family/group databases

Transport Classification Database

More...
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%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:
Peroxisome assembly factor 2
Short name:
PAF-2
Alternative name(s):
Peroxin-6
Peroxisomal biogenesis factor 6
Peroxisomal-type ATPase 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:PEX6
Synonyms:PXAAA1
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000124587.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8859, PEX6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601498, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13608

<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

Cell projection, 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 4 (PBD-CG4)3 Publications
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).
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_077508413G → V in PBD-CG4; disease phenotype includes hearing loss, visual impairment, enamel dysplasia microcephaly with deep white matter changes and developmental delay. 1 PublicationCorresponds to variant dbSNP:rs1554127531EnsemblClinVar.1
Natural variantiVAR_075872534L → P in PBD-CG4. 1 PublicationCorresponds to variant dbSNP:rs387906809EnsemblClinVar.1
Natural variantiVAR_058384849N → T in PBD-CG4. 1 PublicationCorresponds to variant dbSNP:rs267608244Ensembl.1
Natural variantiVAR_058385860R → Q in PBD-CG4. 1 PublicationCorresponds to variant dbSNP:rs61753231Ensembl.1
Natural variantiVAR_058386860R → W in PBD-CG4. 1 PublicationCorresponds to variant dbSNP:rs61753230EnsemblClinVar.1
Peroxisome biogenesis disorder 4A (PBD4A)2 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 and clinically characterized 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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007918812R → Q in PBD4A. 1 PublicationCorresponds to variant dbSNP:rs61753229EnsemblClinVar.1
Natural variantiVAR_007919812R → W in PBD4A; atypical. 1 PublicationCorresponds to variant dbSNP:rs61753228Ensembl.1
Peroxisome biogenesis disorder 4B (PBD4B)1 Publication
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
Heimler syndrome 2 (HMLR2)3 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07750592V → G in HMLR2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886037780EnsemblClinVar.1
Natural variantiVAR_07750699R → L in HMLR2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886037781EnsemblClinVar.1
Natural variantiVAR_077507218F → L in HMLR2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886037779EnsemblClinVar.1
Natural variantiVAR_058382274P → L in HMLR2; results in severe functional decrease in peroxisome biogenesis. 2 PublicationsCorresponds to variant dbSNP:rs61753219EnsemblClinVar.1
Natural variantiVAR_077509572T → I in HMLR2. 1 PublicationCorresponds to variant dbSNP:rs61753224EnsemblClinVar.1
Natural variantiVAR_058383601R → Q in HMLR2; unknown pathological significance; results in mild functional decrease in peroxisome biogenesis. 3 PublicationsCorresponds to variant dbSNP:rs34324426EnsemblClinVar.1
Natural variantiVAR_074110644R → W in HMLR2; results in mild functional decrease in peroxisome biogenesis. 1 PublicationCorresponds to variant dbSNP:rs769896492EnsemblClinVar.1
Natural variantiVAR_077510905C → F in HMLR2. 1 PublicationCorresponds to variant dbSNP:rs886037782EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
5190

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

More...
GeneReviewsi
PEX6

MalaCards human disease database

More...
MalaCardsi
PEX6
MIMi614862, phenotype
614863, phenotype
616617, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000124587

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

More...
Orphaneti
95433, Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
3220, Deafness-enamel hypoplasia-nail defects syndrome
772, Infantile Refsum disease
44, Neonatal adrenoleukodystrophy
912, Zellweger syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33201

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q13608, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PEX6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12644408

<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_00000846071 – 980Peroxisome assembly factor 2Add BLAST980

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 residuei119Omega-N-methylarginineCombined sources1

Keywords - PTMi

Methylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q13608

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q13608

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q13608

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

More...
PaxDbi
Q13608

PeptideAtlas

More...
PeptideAtlasi
Q13608

PRoteomics IDEntifications database

More...
PRIDEi
Q13608

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
59595 [Q13608-1]
75184

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q13608

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

More...
PhosphoSitePlusi
Q13608

<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

Expressed in the retina, at higher levels in the photoreceptor layer at the joint between the outer and inner segments.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000124587, Expressed in body of pancreas and 192 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q13608, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q13608, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000124587, Tissue enhanced (pancreas)

<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 directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26.

Interacts with ZFAND6.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
111213, 20 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q13608

Protein interaction database and analysis system

More...
IntActi
Q13608, 15 interactors

Molecular INTeraction database

More...
MINTi
Q13608

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000303511

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q13608, protein

<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

More...
eggNOGi
KOG0736, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00550000074953

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000688_0_8_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q13608

KEGG Orthology (KO)

More...
KOi
K13339

Identification of Orthologs from Complete Genome Data

More...
OMAi
QCKFAAC

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q13608

TreeFam database of animal gene trees

More...
TreeFami
TF106428

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003593, AAA+_ATPase
IPR003959, ATPase_AAA_core
IPR003960, ATPase_AAA_CS
IPR027417, P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00004, AAA, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382, AAA, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540, SSF52540, 2 hits

PROSITE; a protein domain and family database

More...
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%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 (3)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 3 <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
Isoform 1 (identifier: Q13608-1) [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
MALAVLRVLE PFPTETPPLA VLLPPGGPWP AAELGLVLAL RPAGESPAGP
60 70 80 90 100
ALLVAALEGP DAGTEEQGPG PPQLLVSRAL LRLLALGSGA WVRARAVRRP
110 120 130 140 150
PALGWALLGT SLGPGLGPRV GPLLVRRGET LPVPGPRVLE TRPALQGLLG
160 170 180 190 200
PGTRLAVTEL RGRARLCPES GDSSRPPPPP VVSSFAVSGT VRRLQGVLGG
210 220 230 240 250
TGDSLGVSRS CLRGLGLFQG EWVWVAQARE SSNTSQPHLA RVQVLEPRWD
260 270 280 290 300
LSDRLGPGSG PLGEPLADGL ALVPATLAFN LGCDPLEMGE LRIQRYLEGS
310 320 330 340 350
IAPEDKGSCS LLPGPPFARE LHIEIVSSPH YSTNGNYDGV LYRHFQIPRV
360 370 380 390 400
VQEGDVLCVP TIGQVEILEG SPEKLPRWRE MFFKVKKTVG EAPDGPASAY
410 420 430 440 450
LADTTHTSLY MVGSTLSPVP WLPSEESTLW SSLSPPGLEA LVSELCAVLK
460 470 480 490 500
PRLQPGGALL TGTSSVLLRG PPGCGKTTVV AAACSHLGLH LLKVPCSSLC
510 520 530 540 550
AESSGAVETK LQAIFSRARR CRPAVLLLTA VDLLGRDRDG LGEDARVMAV
560 570 580 590 600
LRHLLLNEDP LNSCPPLMVV ATTSRAQDLP ADVQTAFPHE LEVPALSEGQ
610 620 630 640 650
RLSILRALTA HLPLGQEVNL AQLARRCAGF VVGDLYALLT HSSRAACTRI
660 670 680 690 700
KNSGLAGGLT EEDEGELCAA GFPLLAEDFG QALEQLQTAH SQAVGAPKIP
710 720 730 740 750
SVSWHDVGGL QEVKKEILET IQLPLEHPEL LSLGLRRSGL LLHGPPGTGK
760 770 780 790 800
TLLAKAVATE CSLTFLSVKG PELINMYVGQ SEENVREVFA RARAAAPCII
810 820 830 840 850
FFDELDSLAP SRGRSGDSGG VMDRVVSQLL AELDGLHSTQ DVFVIGATNR
860 870 880 890 900
PDLLDPALLR PGRFDKLVFV GANEDRASQL RVLSAITRKF KLEPSVSLVN
910 920 930 940 950
VLDCCPPQLT GADLYSLCSD AMTAALKRRV HDLEEGLEPG SSALMLTMED
960 970 980
LLQAAARLQP SVSEQELLRY KRIQRKFAAC
Length:980
Mass (Da):104,061
Last modified:December 8, 2000 - v2
<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:i0EC1C2A75CE0038F
GO
Isoform 2 (identifier: Q13608-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     699-738: IPSVSWHDVG...ELLSLGLRRS → VETKSLECLP...AGGEVEILEE
     739-980: Missing.

Show »
Length:738
Mass (Da):77,743
Checksum:i0361EC164987B931
GO
Isoform 3 (identifier: Q13608-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     207-294: Missing.

Show »
Length:892
Mass (Da):94,571
Checksum:i80A979C971947EA4
GO

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 conflicti77S → N in AAC50655 (PubMed:8670792).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05838179A → P1 PublicationCorresponds to variant dbSNP:rs61752141EnsemblClinVar.1
Natural variantiVAR_07750592V → G in HMLR2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886037780EnsemblClinVar.1
Natural variantiVAR_07750699R → L in HMLR2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886037781EnsemblClinVar.1
Natural variantiVAR_077507218F → L in HMLR2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886037779EnsemblClinVar.1
Natural variantiVAR_058382274P → L in HMLR2; results in severe functional decrease in peroxisome biogenesis. 2 PublicationsCorresponds to variant dbSNP:rs61753219EnsemblClinVar.1
Natural variantiVAR_077508413G → V in PBD-CG4; disease phenotype includes hearing loss, visual impairment, enamel dysplasia microcephaly with deep white matter changes and developmental delay. 1 PublicationCorresponds to variant dbSNP:rs1554127531EnsemblClinVar.1
Natural variantiVAR_075872534L → P in PBD-CG4. 1 PublicationCorresponds to variant dbSNP:rs387906809EnsemblClinVar.1
Natural variantiVAR_077509572T → I in HMLR2. 1 PublicationCorresponds to variant dbSNP:rs61753224EnsemblClinVar.1
Natural variantiVAR_058383601R → Q in HMLR2; unknown pathological significance; results in mild functional decrease in peroxisome biogenesis. 3 PublicationsCorresponds to variant dbSNP:rs34324426EnsemblClinVar.1
Natural variantiVAR_074110644R → W in HMLR2; results in mild functional decrease in peroxisome biogenesis. 1 PublicationCorresponds to variant dbSNP:rs769896492EnsemblClinVar.1
Natural variantiVAR_048114809A → V1 PublicationCorresponds to variant dbSNP:rs35830695EnsemblClinVar.1
Natural variantiVAR_007918812R → Q in PBD4A. 1 PublicationCorresponds to variant dbSNP:rs61753229EnsemblClinVar.1
Natural variantiVAR_007919812R → W in PBD4A; atypical. 1 PublicationCorresponds to variant dbSNP:rs61753228Ensembl.1
Natural variantiVAR_058384849N → T in PBD-CG4. 1 PublicationCorresponds to variant dbSNP:rs267608244Ensembl.1
Natural variantiVAR_058385860R → Q in PBD-CG4. 1 PublicationCorresponds to variant dbSNP:rs61753231Ensembl.1
Natural variantiVAR_058386860R → W in PBD-CG4. 1 PublicationCorresponds to variant dbSNP:rs61753230EnsemblClinVar.1
Natural variantiVAR_048115882V → I1 PublicationCorresponds to variant dbSNP:rs2274516EnsemblClinVar.1
Natural variantiVAR_077510905C → F in HMLR2. 1 PublicationCorresponds to variant dbSNP:rs886037782EnsemblClinVar.1
Natural variantiVAR_058387924A → S1 PublicationCorresponds to variant dbSNP:rs34551839EnsemblClinVar.1
Natural variantiVAR_048116939P → Q2 PublicationsCorresponds to variant dbSNP:rs1129187EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_057137207 – 294Missing in isoform 3. 1 PublicationAdd BLAST88
Alternative sequenceiVSP_057138699 – 738IPSVS…GLRRS → VETKSLECLPGPGLQLHALS SLMNWTLWPQAGGEVEILEE in isoform 2. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_057139739 – 980Missing in isoform 2. 1 PublicationAdd BLAST242

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
U56602 Genomic DNA Translation: AAC50655.1
D83703 mRNA Translation: BAA12069.1
AF108098 AF108097 Genomic DNA Translation: AAF62564.1
AB051076 mRNA Translation: BAB83046.1
AB051077 mRNA Translation: BAB83047.1
AB051078 mRNA Translation: BAB83048.1
AK314237 mRNA Translation: BAG36906.1
AL158815 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04125.1
CH471081 Genomic DNA Translation: EAX04128.1
CH471081 Genomic DNA Translation: EAX04129.1
BC048331 mRNA Translation: AAH48331.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4877.1 [Q13608-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
S71090

NCBI Reference Sequences

More...
RefSeqi
NP_000278.3, NM_000287.3 [Q13608-1]
NP_001303242.1, NM_001316313.1 [Q13608-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000244546; ENSP00000244546; ENSG00000124587 [Q13608-2]
ENST00000304611; ENSP00000303511; ENSG00000124587 [Q13608-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5190

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5190

UCSC genome browser

More...
UCSCi
uc003otf.4, human [Q13608-1]

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%5Freferences%5Fsection">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
U56602 Genomic DNA Translation: AAC50655.1
D83703 mRNA Translation: BAA12069.1
AF108098 AF108097 Genomic DNA Translation: AAF62564.1
AB051076 mRNA Translation: BAB83046.1
AB051077 mRNA Translation: BAB83047.1
AB051078 mRNA Translation: BAB83048.1
AK314237 mRNA Translation: BAG36906.1
AL158815 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04125.1
CH471081 Genomic DNA Translation: EAX04128.1
CH471081 Genomic DNA Translation: EAX04129.1
BC048331 mRNA Translation: AAH48331.1
CCDSiCCDS4877.1 [Q13608-1]
PIRiS71090
RefSeqiNP_000278.3, NM_000287.3 [Q13608-1]
NP_001303242.1, NM_001316313.1 [Q13608-3]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi111213, 20 interactors
CORUMiQ13608
IntActiQ13608, 15 interactors
MINTiQ13608
STRINGi9606.ENSP00000303511

Protein family/group databases

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

PTM databases

iPTMnetiQ13608
PhosphoSitePlusiQ13608

Polymorphism and mutation databases

BioMutaiPEX6
DMDMi12644408

Proteomic databases

EPDiQ13608
jPOSTiQ13608
MassIVEiQ13608
PaxDbiQ13608
PeptideAtlasiQ13608
PRIDEiQ13608
ProteomicsDBi59595 [Q13608-1]
75184

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
16146, 229 antibodies

Genome annotation databases

EnsembliENST00000244546; ENSP00000244546; ENSG00000124587 [Q13608-2]
ENST00000304611; ENSP00000303511; ENSG00000124587 [Q13608-1]
GeneIDi5190
KEGGihsa:5190
UCSCiuc003otf.4, human [Q13608-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5190
DisGeNETi5190
EuPathDBiHostDB:ENSG00000124587.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PEX6
GeneReviewsiPEX6
HGNCiHGNC:8859, PEX6
HPAiENSG00000124587, Tissue enhanced (pancreas)
MalaCardsiPEX6
MIMi601498, gene
614862, phenotype
614863, phenotype
616617, phenotype
neXtProtiNX_Q13608
OpenTargetsiENSG00000124587
Orphaneti95433, Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
3220, Deafness-enamel hypoplasia-nail defects syndrome
772, Infantile Refsum disease
44, Neonatal adrenoleukodystrophy
912, Zellweger syndrome
PharmGKBiPA33201

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0736, Eukaryota
GeneTreeiENSGT00550000074953
HOGENOMiCLU_000688_0_8_1
InParanoidiQ13608
KOiK13339
OMAiQCKFAAC
PhylomeDBiQ13608
TreeFamiTF106428

Enzyme and pathway databases

PathwayCommonsiQ13608
ReactomeiR-HSA-9033241, Peroxisomal protein import
SIGNORiQ13608

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
5190, 54 hits in 871 CRISPR screens

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

More...
ChiTaRSi
PEX6, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PEX6

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

More...
GenomeRNAii
5190
PharosiQ13608, Tbio

Protein Ontology

More...
PROi
PR:Q13608
RNActiQ13608, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000124587, Expressed in body of pancreas and 192 other tissues
ExpressionAtlasiQ13608, baseline and differential
GenevisibleiQ13608, HS

Family and domain databases

InterProiView protein in InterPro
IPR003593, AAA+_ATPase
IPR003959, ATPase_AAA_core
IPR003960, ATPase_AAA_CS
IPR027417, P-loop_NTPase
PfamiView protein in Pfam
PF00004, AAA, 2 hits
SMARTiView protein in SMART
SM00382, AAA, 2 hits
SUPFAMiSSF52540, SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00674, AAA, 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 nameiPEX6_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: Q13608
Secondary accession number(s): Q5T8W1
, Q8WYQ0, Q8WYQ1, Q8WYQ2, Q99476
<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: November 1, 1997
Last sequence update: December 8, 2000
Last modified: August 12, 2020
This is version 182 of the entry and version 2 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

Reference proteome

Documents

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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again