Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Peroxisomal targeting signal 2 receptor

Gene

PEX7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • peroxisome matrix targeting signal-2 binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-9033241 Peroxisomal protein import
SignaLinkiO00628
SIGNORiO00628

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisomal targeting signal 2 receptor
Short name:
PTS2 receptor
Alternative name(s):
Peroxin-7
Gene namesi
Name:PEX7
Synonyms:PTS2R
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112357.12
HGNCiHGNC:8860 PEX7
MIMi601757 gene
neXtProtiNX_O00628

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, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder complementation group 11 (PBD-CG11)
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:614879
Rhizomelic chondrodysplasia punctata 1 (RCDP1)1 Publication
The disease is caused by mutations 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.
See also OMIM:215100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 mutations 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.
See also OMIM:614879
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01681014T → P in PBD9B. 1 PublicationCorresponds to variant dbSNP:rs61753233EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi5191
GeneReviewsiPEX7
MalaCardsiPEX7
MIMi215100 phenotype
614879 phenotype
OpenTargetsiENSG00000112357
Orphaneti773 Refsum disease
309789 Rhizomelic chondrodysplasia punctata type 1
PharmGKBiPA33202

Polymorphism and mutation databases

BioMutaiPEX7

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000511161 – 323Peroxisomal targeting signal 2 receptorAdd BLAST323

Proteomic databases

EPDiO00628
PaxDbiO00628
PeptideAtlasiO00628
PRIDEiO00628
ProteomicsDBi48001

PTM databases

iPTMnetiO00628
PhosphoSitePlusiO00628

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000112357 Expressed in 211 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_PEX7
ExpressionAtlasiO00628 baseline and differential
GenevisibleiO00628 HS

Organism-specific databases

HPAiHPA049202

Interactioni

Subunit structurei

Interacts with PEX5.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111214, 30 interactors
IntActiO00628, 4 interactors
MINTiO00628
STRINGi9606.ENSP00000315680

Structurei

3D structure databases

ProteinModelPortaliO00628
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati65 – 96WD 1Add BLAST32
Repeati109 – 141WD 2Add BLAST33
Repeati153 – 184WD 3Add BLAST32
Repeati196 – 227WD 4Add BLAST32
Repeati240 – 271WD 5Add BLAST32
Repeati284 – 315WD 6Add BLAST32

Sequence similaritiesi

Belongs to the WD repeat peroxin-7 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0277 Eukaryota
ENOG410XNVU LUCA
GeneTreeiENSGT00920000149080
HOGENOMiHOG000204332
HOVERGENiHBG003354
InParanoidiO00628
KOiK13341
OMAiNYDFTTR
OrthoDBiEOG091G0C6L
PhylomeDBiO00628
TreeFamiTF323220

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O00628-1) [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
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
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

Note: No experimental confirmation available.
Show »
Length:280
Mass (Da):30,947
Checksum:iCCE69B17EE2571BA
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5TDQ5Q5TDQ5_HUMAN
Peroxisomal targeting signal 2 rece...
PEX7
122Annotation score:

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
Alternative sequenceiVSP_056393250 – 323FSPFH…LTIPA → MESCPVTQTRSQLTATSAFW VQAVLLPQPTE in isoform 2. 1 PublicationAdd BLAST74

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
CCDSiCCDS5180.1 [O00628-1]
RefSeqiNP_000279.1, NM_000288.3 [O00628-1]
UniGeneiHs.280932

Genome annotation databases

EnsembliENST00000318471; ENSP00000315680; ENSG00000112357 [O00628-1]
ENST00000541292; ENSP00000441004; ENSG00000112357 [O00628-2]
GeneIDi5191
KEGGihsa:5191
UCSCiuc063rtk.1 human [O00628-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS5180.1 [O00628-1]
RefSeqiNP_000279.1, NM_000288.3 [O00628-1]
UniGeneiHs.280932

3D structure databases

ProteinModelPortaliO00628
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111214, 30 interactors
IntActiO00628, 4 interactors
MINTiO00628
STRINGi9606.ENSP00000315680

Protein family/group databases

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

PTM databases

iPTMnetiO00628
PhosphoSitePlusiO00628

Polymorphism and mutation databases

BioMutaiPEX7

Proteomic databases

EPDiO00628
PaxDbiO00628
PeptideAtlasiO00628
PRIDEiO00628
ProteomicsDBi48001

Protocols and materials databases

DNASUi5191
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318471; ENSP00000315680; ENSG00000112357 [O00628-1]
ENST00000541292; ENSP00000441004; ENSG00000112357 [O00628-2]
GeneIDi5191
KEGGihsa:5191
UCSCiuc063rtk.1 human [O00628-1]

Organism-specific databases

CTDi5191
DisGeNETi5191
EuPathDBiHostDB:ENSG00000112357.12
GeneCardsiPEX7
GeneReviewsiPEX7
HGNCiHGNC:8860 PEX7
HPAiHPA049202
MalaCardsiPEX7
MIMi215100 phenotype
601757 gene
614879 phenotype
neXtProtiNX_O00628
OpenTargetsiENSG00000112357
Orphaneti773 Refsum disease
309789 Rhizomelic chondrodysplasia punctata type 1
PharmGKBiPA33202
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0277 Eukaryota
ENOG410XNVU LUCA
GeneTreeiENSGT00920000149080
HOGENOMiHOG000204332
HOVERGENiHBG003354
InParanoidiO00628
KOiK13341
OMAiNYDFTTR
OrthoDBiEOG091G0C6L
PhylomeDBiO00628
TreeFamiTF323220

Enzyme and pathway databases

ReactomeiR-HSA-9033241 Peroxisomal protein import
SignaLinkiO00628
SIGNORiO00628

Miscellaneous databases

ChiTaRSiPEX7 human
GenomeRNAii5191
PROiPR:O00628
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112357 Expressed in 211 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_PEX7
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
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
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
ProtoNetiSearch...

Entry informationi

Entry nameiPEX7_HUMAN
AccessioniPrimary (citable) accession number: O00628
Secondary accession number(s): C0H5X6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 1, 1997
Last modified: November 7, 2018
This is version 169 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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