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UniProtKB - O00628 (PEX7_HUMAN)

Entry version 187 (25 May 2022)
Sequence version 1 (01 Jul 1997)
Previous versions | rss
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Protein

Peroxisomal targeting signal 2 receptor

Gene

PEX7

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 N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.

By similarity

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O00628

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O00628

SIGNOR Signaling Network Open Resource

More...SIGNORi		O00628

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:
Peroxisomal targeting signal 2 receptor
Short name:
PTS2 receptor
Alternative name(s):
Peroxin-7
<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:PEX7
Synonyms:PTS2R
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

Human Gene Nomenclature Database

More...HGNCi		HGNC:8860, PEX7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601757, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00628

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000112357

<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

Keywords - Cellular componenti

Cytoplasm, 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 11 (PBD-CG11)
The disease is caused by variants 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
Rhizomelic chondrodysplasia punctata 1 (RCDP1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA peroxisome biogenesis disorder. It is 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
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_007725217G → R in RCDP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909152EnsemblClinVar.1
Natural variantiVAR_007726218A → V in RCDP1. 1 PublicationCorresponds to variant dbSNP:rs121909151EnsemblClinVar.1
Peroxisome biogenesis disorder 9B (PBD9B)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01681014T → P in PBD9B. 1 PublicationCorresponds to variant dbSNP:rs61753233EnsemblClinVar.1

Keywords - Diseasei

Cataract, Deafness, Disease variant, Ichthyosis, Peroxisome biogenesis disorder, Retinitis pigmentosa, Rhizomelic chondrodysplasia punctata

Organism-specific databases

DisGeNET

More...DisGeNETi		5191

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

More...GeneReviewsi		PEX7

MalaCards human disease database

More...MalaCardsi		PEX7
MIMi215100, phenotype
614879, phenotype

Open Targets

More...OpenTargetsi		ENSG00000112357

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

More...Orphaneti		773, Refsum disease
309789, Rhizomelic chondrodysplasia punctata type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33202

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O00628, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PEX7

<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_00000511161 – 323Peroxisomal targeting signal 2 receptorAdd BLAST323

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O00628

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O00628

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O00628

MaxQB - The MaxQuant DataBase

More...MaxQBi		O00628

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

More...PaxDbi		O00628

PeptideAtlas

More...PeptideAtlasi		O00628

PRoteomics IDEntifications database

More...PRIDEi		O00628

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48001 [O00628-1]
7570

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00628

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

More...PhosphoSitePlusi		O00628

<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

Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000112357, Expressed in pigmented layer of retina and 224 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00628, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00628, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000112357, 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 PEX5 (By similarity).

Interacts with VWA8 (PubMed:30204880).

By similarity1 Publication

<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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111214, 39 interactors

Protein interaction database and analysis system

More...IntActi		O00628, 27 interactors

Molecular INTeraction database

More...MINTi		O00628

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000315680

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O00628, 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

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		O00628

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

More...SMRi		O00628

Database of comparative protein structure models

More...ModBasei		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

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>Repeati65 – 96WD 1Add BLAST32
Repeati109 – 141WD 2Add BLAST33
Repeati153 – 184WD 3Add BLAST32
Repeati196 – 227WD 4Add BLAST32
Repeati240 – 271WD 5Add BLAST32
Repeati284 – 315WD 6Add BLAST32

<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 WD repeat peroxin-7 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0277, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157264

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_046581_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00628

Identification of Orthologs from Complete Genome Data

More...OMAi		EKWNYHT

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00628

TreeFam database of animal gene trees

More...TreeFami		TF323220

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR020472, G-protein_beta_WD-40_rep
IPR044536, PEX7
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR019775, WD40_repeat_CS
IPR036322, WD40_repeat_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR46027, PTHR46027, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00400, WD40, 4 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00320, GPROTEINBRPT

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00320, WD40, 6 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978, SSF50978, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00678, WD_REPEATS_1, 3 hits
PS50082, WD_REPEATS_2, 4 hits
PS50294, WD_REPEATS_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 (2+)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 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00628-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MSAVCGGAAR MLRTPGRHGY AAEFSPYLPG RLACATAQHY GIAGCGTLLI 
        60         70         80         90        100
LDPDEAGLRL FRSFDWNDGL FDVTWSENNE HVLITCSGDG SLQLWDTAKA 
       110        120        130        140        150
AGPLQVYKEH AQEVYSVDWS QTRGEQLVVS GSWDQTVKLW DPTVGKSLCT 
       160        170        180        190        200
FRGHESIIYS TIWSPHIPGC FASASGDQTL RIWDVKAAGV RIVIPAHQAE 
       210        220        230        240        250
ILSCDWCKYN ENLLVTGAVD CSLRGWDLRN VRQPVFELLG HTYAIRRVKF 
       260        270        280        290        300
SPFHASVLAS CSYDFTVRFW NFSKPDSLLE TVEHHTEFTC GLDFSLQSPT 
       310        320 
QVADCSWDET IKIYDPACLT IPA
Length:323
Mass (Da):35,892
Last modified:July 1, 1997 - 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:iD405387F7F14B432
GO
Isoform 2 (identifier: O00628-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     250-323: FSPFHASVLA...YDPACLTIPA → MESCPVTQTRSQLTATSAFWVQAVLLPQPTE

Show »
Length:280
Mass (Da):30,947
Checksum:iCCE69B17EE2571BA
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A7I2V2J8A0A7I2V2J8_HUMAN
Peroxin-7
PEX7
285Annotation score:

Annotation score:2 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>
A0A7I2V2W7A0A7I2V2W7_HUMAN
Peroxin-7
PEX7
283Annotation score:

Annotation score:2 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>
Q5TDQ5Q5TDQ5_HUMAN
Peroxin-7
PEX7
122Annotation score:

Annotation score:2 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>
A0A7I2YQJ4A0A7I2YQJ4_HUMAN
Peroxisomal targeting signal 2 rece...
PEX7
74Annotation 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>
A0A7I2V3V6A0A7I2V3V6_HUMAN
Peroxisomal targeting signal 2 rece...
PEX7
31Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01681014T → P in PBD9B. 1 PublicationCorresponds to variant dbSNP:rs61753233EnsemblClinVar.1
Natural variantiVAR_007725217G → R in RCDP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909152EnsemblClinVar.1
Natural variantiVAR_007726218A → V in RCDP1. 1 PublicationCorresponds to variant dbSNP:rs121909151EnsemblClinVar.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_056393250 – 323FSPFH…LTIPA → MESCPVTQTRSQLTATSAFW VQAVLLPQPTE in isoform 2. 1 PublicationAdd BLAST74

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
U88871 mRNA Translation: AAC51238.1
U76560 mRNA Translation: AAB50556.1
AF180814 AF180813 Genomic DNA Translation: AAF37350.1
AL121933 Genomic DNA No translation available.
AL357082 Genomic DNA No translation available.
AL365223 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47941.1
BC006268 mRNA Translation: AAH06268.1
BC031606 mRNA Translation: AAH31606.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5180.1 [O00628-1]

NCBI Reference Sequences

More...RefSeqi		NP_000279.1, NM_000288.3 [O00628-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000318471.5; ENSP00000315680.3; ENSG00000112357.14
ENST00000541292.6; ENSP00000441004.1; ENSG00000112357.14 [O00628-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5191

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5191

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000318471.5; ENSP00000315680.3; NM_000288.4; NP_000279.1

UCSC genome browser

More...UCSCi		uc063rtk.1, human [O00628-1]

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
U88871 mRNA Translation: AAC51238.1
U76560 mRNA Translation: AAB50556.1
AF180814 AF180813 Genomic DNA Translation: AAF37350.1
AL121933 Genomic DNA No translation available.
AL357082 Genomic DNA No translation available.
AL365223 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47941.1
BC006268 mRNA Translation: AAH06268.1
BC031606 mRNA Translation: AAH31606.1
CCDSiCCDS5180.1 [O00628-1]
RefSeqiNP_000279.1, NM_000288.3 [O00628-1]

3D structure databases

AlphaFoldDBiO00628
SMRiO00628
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111214, 39 interactors
IntActiO00628, 27 interactors
MINTiO00628
STRINGi9606.ENSP00000315680

Protein family/group databases

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

PTM databases

iPTMnetiO00628
PhosphoSitePlusiO00628

Genetic variation databases

BioMutaiPEX7

Proteomic databases

EPDiO00628
jPOSTiO00628
MassIVEiO00628
MaxQBiO00628
PaxDbiO00628
PeptideAtlasiO00628
PRIDEiO00628
ProteomicsDBi48001 [O00628-1]
7570

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		O00628, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33017, 163 antibodies from 34 providers

The DNASU plasmid repository

More...DNASUi		5191

Genome annotation databases

EnsembliENST00000318471.5; ENSP00000315680.3; ENSG00000112357.14
ENST00000541292.6; ENSP00000441004.1; ENSG00000112357.14 [O00628-2]
GeneIDi5191
KEGGihsa:5191
MANE-SelectiENST00000318471.5; ENSP00000315680.3; NM_000288.4; NP_000279.1
UCSCiuc063rtk.1, human [O00628-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5191
DisGeNETi5191

GeneCards: human genes, protein and diseases

More...GeneCardsi		PEX7
GeneReviewsiPEX7
HGNCiHGNC:8860, PEX7
HPAiENSG00000112357, Low tissue specificity
MalaCardsiPEX7
MIMi215100, phenotype
601757, gene
614879, phenotype
neXtProtiNX_O00628
OpenTargetsiENSG00000112357
Orphaneti773, Refsum disease
309789, Rhizomelic chondrodysplasia punctata type 1
PharmGKBiPA33202
VEuPathDBiHostDB:ENSG00000112357

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0277, Eukaryota
GeneTreeiENSGT00940000157264
HOGENOMiCLU_046581_0_1_1
InParanoidiO00628
OMAiEKWNYHT
PhylomeDBiO00628
TreeFamiTF323220

Enzyme and pathway databases

PathwayCommonsiO00628
ReactomeiR-HSA-9033241, Peroxisomal protein import
SignaLinkiO00628
SIGNORiO00628

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5191, 27 hits in 1085 CRISPR screens

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

More...ChiTaRSi		PEX7, human

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

More...GenomeRNAii		5191
PharosiO00628, Tbio

Protein Ontology

More...PROi		PR:O00628
RNActiO00628, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000112357, Expressed in pigmented layer of retina and 224 other tissues
ExpressionAtlasiO00628, baseline and differential
GenevisibleiO00628, HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR020472, G-protein_beta_WD-40_rep
IPR044536, PEX7
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR019775, WD40_repeat_CS
IPR036322, WD40_repeat_dom_sf
PANTHERiPTHR46027, PTHR46027, 1 hit
PfamiView protein in Pfam
PF00400, WD40, 4 hits
PRINTSiPR00320, GPROTEINBRPT
SMARTiView protein in SMART
SM00320, WD40, 6 hits
SUPFAMiSSF50978, SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678, WD_REPEATS_1, 3 hits
PS50082, WD_REPEATS_2, 4 hits
PS50294, WD_REPEATS_REGION, 1 hit

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 nameiPEX7_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: O00628
Secondary accession number(s): C0H5X6
<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: July 15, 1998
Last sequence update: July 1, 1997
Last modified: May 25, 2022
This is version 187 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

Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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