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UniProtKB - O00628 (PEX7_HUMAN)
Protein
Peroxisomal targeting signal 2 receptor
Gene
PEX7
Organism
Homo sapiens (Human)
Status
Functioni
Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.
By similarityGO - Molecular functioni
- enzyme binding Source: UniProtKB
- peroxisome matrix targeting signal-2 binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
GO - Biological processi
- endochondral ossification Source: Ensembl
- ether lipid biosynthetic process Source: UniProtKB
- fatty acid beta-oxidation Source: Ensembl
- neuron migration Source: Ensembl
- peroxisome organization Source: UniProtKB
- protein import into peroxisome matrix Source: MGI
Keywordsi
Biological process | Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | O00628 |
Reactomei | R-HSA-9033241, Peroxisomal protein import |
SignaLinki | O00628 |
SIGNORi | O00628 |
Protein family/group databases
TCDBi | 3.A.20.1.1, the peroxisomal protein importer (ppi) family |
Names & Taxonomyi
Protein namesi | Recommended name: Peroxisomal targeting signal 2 receptorShort name: PTS2 receptor Alternative name(s): Peroxin-7 |
Gene namesi | Name:PEX7 Synonyms:PTS2R |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8860, PEX7 |
MIMi | 601757, gene |
neXtProti | NX_O00628 |
VEuPathDBi | HostDB:ENSG00000112357 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Peroxisome
- Peroxisome By similarity
Cytosol
- cytosol Source: UniProtKB
Peroxisome
- peroxisomal matrix Source: UniProtKB
- peroxisomal membrane Source: Reactome
- peroxisome Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, PeroxisomePathology & Biotechi
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 OMIMRhizomelic 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_007725 | 217 | G → R in RCDP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909152EnsemblClinVar. | 1 | |
Natural variantiVAR_007726 | 218 | A → 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016810 | 14 | T → P in PBD9B. 1 PublicationCorresponds to variant dbSNP:rs61753233EnsemblClinVar. | 1 |
Keywords - Diseasei
Cataract, Deafness, Disease variant, Ichthyosis, Peroxisome biogenesis disorder, Retinitis pigmentosa, Rhizomelic chondrodysplasia punctataOrganism-specific databases
DisGeNETi | 5191 |
GeneReviewsi | PEX7 |
MalaCardsi | PEX7 |
MIMi | 215100, phenotype 614879, phenotype |
OpenTargetsi | ENSG00000112357 |
Orphaneti | 773, Refsum disease 309789, Rhizomelic chondrodysplasia punctata type 1 |
PharmGKBi | PA33202 |
Miscellaneous databases
Pharosi | O00628, Tbio |
Genetic variation databases
BioMutai | PEX7 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000051116 | 1 – 323 | Peroxisomal targeting signal 2 receptorAdd BLAST | 323 |
Proteomic databases
EPDi | O00628 |
jPOSTi | O00628 |
MassIVEi | O00628 |
MaxQBi | O00628 |
PaxDbi | O00628 |
PeptideAtlasi | O00628 |
PRIDEi | O00628 |
ProteomicsDBi | 48001 [O00628-1] 7570 |
PTM databases
iPTMneti | O00628 |
PhosphoSitePlusi | O00628 |
Expressioni
Tissue specificityi
Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.
Gene expression databases
Bgeei | ENSG00000112357, Expressed in pigmented layer of retina and 224 other tissues |
ExpressionAtlasi | O00628, baseline and differential |
Genevisiblei | O00628, HS |
Organism-specific databases
HPAi | ENSG00000112357, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with PEX5 (By similarity).
Interacts with VWA8 (PubMed:30204880).
By similarity1 PublicationBinary interactionsi
O00628
With | #Exp. | IntAct |
---|---|---|
PIAS1 [O75925] | 3 | EBI-5238811,EBI-629434 |
Isoform 2 [O00628-2]
With | #Exp. | IntAct |
---|---|---|
ATL1 [Q8WXF7] | 3 | EBI-25882083,EBI-2410266 |
INKA1 [Q96EL1] | 3 | EBI-25882083,EBI-10285157 |
SPAG8 - isoform 2 [Q99932-2] | 3 | EBI-25882083,EBI-11959123 |
STUB1 [Q9UNE7] | 3 | EBI-25882083,EBI-357085 |
GO - Molecular functioni
- enzyme binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 111214, 39 interactors |
IntActi | O00628, 27 interactors |
MINTi | O00628 |
STRINGi | 9606.ENSP00000315680 |
Miscellaneous databases
RNActi | O00628, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 65 – 96 | WD 1Add BLAST | 32 | |
Repeati | 109 – 141 | WD 2Add BLAST | 33 | |
Repeati | 153 – 184 | WD 3Add BLAST | 32 | |
Repeati | 196 – 227 | WD 4Add BLAST | 32 | |
Repeati | 240 – 271 | WD 5Add BLAST | 32 | |
Repeati | 284 – 315 | WD 6Add BLAST | 32 |
Sequence similaritiesi
Belongs to the WD repeat peroxin-7 family.Curated
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG0277, Eukaryota |
GeneTreei | ENSGT00940000157264 |
HOGENOMi | CLU_046581_0_1_1 |
InParanoidi | O00628 |
OMAi | EKWNYHT |
PhylomeDBi | O00628 |
TreeFami | TF323220 |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
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 |
PANTHERi | PTHR46027, PTHR46027, 1 hit |
Pfami | View protein in Pfam PF00400, WD40, 4 hits |
PRINTSi | PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00320, WD40, 6 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 3 hits PS50082, WD_REPEATS_2, 4 hits PS50294, WD_REPEATS_REGION, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A7I2V2J8 | A0A7I2V2J8_HUMAN | Peroxin-7 | PEX7 | 285 | Annotation score: | ||
A0A7I2V2W7 | A0A7I2V2W7_HUMAN | Peroxin-7 | PEX7 | 283 | Annotation score: | ||
Q5TDQ5 | Q5TDQ5_HUMAN | Peroxin-7 | PEX7 | 122 | Annotation score: | ||
A0A7I2YQJ4 | A0A7I2YQJ4_HUMAN | Peroxisomal targeting signal 2 rece... | PEX7 | 74 | Annotation score: | ||
A0A7I2V3V6 | A0A7I2V3V6_HUMAN | Peroxisomal targeting signal 2 rece... | PEX7 | 31 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016810 | 14 | T → P in PBD9B. 1 PublicationCorresponds to variant dbSNP:rs61753233EnsemblClinVar. | 1 | |
Natural variantiVAR_007725 | 217 | G → R in RCDP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909152EnsemblClinVar. | 1 | |
Natural variantiVAR_007726 | 218 | A → V in RCDP1. 1 PublicationCorresponds to variant dbSNP:rs121909151EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056393 | 250 – 323 | FSPFH…LTIPA → MESCPVTQTRSQLTATSAFW VQAVLLPQPTE in isoform 2. 1 PublicationAdd BLAST | 74 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U88871 mRNA Translation: AAC51238.1 U76560 mRNA Translation: AAB50556.1 AF180814 , AF180806, AF180807, AF180808, AF180809, AF180810, AF180811, AF180812, 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 |
CCDSi | CCDS5180.1 [O00628-1] |
RefSeqi | NP_000279.1, NM_000288.3 [O00628-1] |
Genome annotation databases
Ensembli | ENST00000318471.5; ENSP00000315680.3; ENSG00000112357.14 ENST00000541292.6; ENSP00000441004.1; ENSG00000112357.14 [O00628-2] |
GeneIDi | 5191 |
KEGGi | hsa:5191 |
MANE-Selecti | ENST00000318471.5; ENSP00000315680.3; NM_000288.4; NP_000279.1 |
UCSCi | uc063rtk.1, human [O00628-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U88871 mRNA Translation: AAC51238.1 U76560 mRNA Translation: AAB50556.1 AF180814 , AF180806, AF180807, AF180808, AF180809, AF180810, AF180811, AF180812, 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 |
CCDSi | CCDS5180.1 [O00628-1] |
RefSeqi | NP_000279.1, NM_000288.3 [O00628-1] |
3D structure databases
AlphaFoldDBi | O00628 |
SMRi | O00628 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111214, 39 interactors |
IntActi | O00628, 27 interactors |
MINTi | O00628 |
STRINGi | 9606.ENSP00000315680 |
Protein family/group databases
TCDBi | 3.A.20.1.1, the peroxisomal protein importer (ppi) family |
PTM databases
iPTMneti | O00628 |
PhosphoSitePlusi | O00628 |
Genetic variation databases
BioMutai | PEX7 |
Proteomic databases
EPDi | O00628 |
jPOSTi | O00628 |
MassIVEi | O00628 |
MaxQBi | O00628 |
PaxDbi | O00628 |
PeptideAtlasi | O00628 |
PRIDEi | O00628 |
ProteomicsDBi | 48001 [O00628-1] 7570 |
Protocols and materials databases
ABCDi | O00628, 1 sequenced antibody |
Antibodypediai | 33017, 163 antibodies from 34 providers |
DNASUi | 5191 |
Genome annotation databases
Ensembli | ENST00000318471.5; ENSP00000315680.3; ENSG00000112357.14 ENST00000541292.6; ENSP00000441004.1; ENSG00000112357.14 [O00628-2] |
GeneIDi | 5191 |
KEGGi | hsa:5191 |
MANE-Selecti | ENST00000318471.5; ENSP00000315680.3; NM_000288.4; NP_000279.1 |
UCSCi | uc063rtk.1, human [O00628-1] |
Organism-specific databases
CTDi | 5191 |
DisGeNETi | 5191 |
GeneCardsi | PEX7 |
GeneReviewsi | PEX7 |
HGNCi | HGNC:8860, PEX7 |
HPAi | ENSG00000112357, Low tissue specificity |
MalaCardsi | PEX7 |
MIMi | 215100, phenotype 601757, gene 614879, phenotype |
neXtProti | NX_O00628 |
OpenTargetsi | ENSG00000112357 |
Orphaneti | 773, Refsum disease 309789, Rhizomelic chondrodysplasia punctata type 1 |
PharmGKBi | PA33202 |
VEuPathDBi | HostDB:ENSG00000112357 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0277, Eukaryota |
GeneTreei | ENSGT00940000157264 |
HOGENOMi | CLU_046581_0_1_1 |
InParanoidi | O00628 |
OMAi | EKWNYHT |
PhylomeDBi | O00628 |
TreeFami | TF323220 |
Enzyme and pathway databases
PathwayCommonsi | O00628 |
Reactomei | R-HSA-9033241, Peroxisomal protein import |
SignaLinki | O00628 |
SIGNORi | O00628 |
Miscellaneous databases
BioGRID-ORCSi | 5191, 27 hits in 1085 CRISPR screens |
ChiTaRSi | PEX7, human |
GenomeRNAii | 5191 |
Pharosi | O00628, Tbio |
PROi | PR:O00628 |
RNActi | O00628, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000112357, Expressed in pigmented layer of retina and 224 other tissues |
ExpressionAtlasi | O00628, baseline and differential |
Genevisiblei | O00628, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
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 |
PANTHERi | PTHR46027, PTHR46027, 1 hit |
Pfami | View protein in Pfam PF00400, WD40, 4 hits |
PRINTSi | PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00320, WD40, 6 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 3 hits PS50082, WD_REPEATS_2, 4 hits PS50294, WD_REPEATS_REGION, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PEX7_HUMAN | |
Accessioni | O00628Primary (citable) accession number: O00628 Secondary accession number(s): C0H5X6 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families