Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O00628 (PEX7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peroxisomal targeting signal 2 receptor

Short name=PTS2 receptor
Alternative name(s):
Peroxin-7
Gene names
Name:PEX7
Synonyms:PTS2R
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length323 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with PEX5.

Subcellular location

Peroxisome. Cytoplasm.

Tissue specificity

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

Involvement in disease

Peroxisome biogenesis disorder complementation group 11 (PBD-CG11) [MIM:614879]: A 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).
Note: The disease is caused by mutations affecting the gene represented in this entry.

Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100]: A peroxisome biogenesis disorder. It is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2

Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the WD repeat peroxin-7 family.

Contains 6 WD repeats.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 323323Peroxisomal targeting signal 2 receptor
PRO_0000051116

Regions

Repeat65 – 9632WD 1
Repeat109 – 14133WD 2
Repeat153 – 18432WD 3
Repeat196 – 22732WD 4
Repeat240 – 27132WD 5
Repeat284 – 31532WD 6

Natural variations

Natural variant141T → P in PBD9B. Ref.5
VAR_016810
Natural variant2171G → R in RCDP1; unknown pathological significance. Ref.2
VAR_007725
Natural variant2181A → V in RCDP1. Ref.2
VAR_007726

Sequences

Sequence LengthMass (Da)Tools
O00628 [UniParc].

Last modified July 1, 1997. Version 1.
Checksum: D405387F7F14B432

FASTA32335,892
        10         20         30         40         50         60 
MSAVCGGAAR MLRTPGRHGY AAEFSPYLPG RLACATAQHY GIAGCGTLLI LDPDEAGLRL 

        70         80         90        100        110        120 
FRSFDWNDGL FDVTWSENNE HVLITCSGDG SLQLWDTAKA AGPLQVYKEH AQEVYSVDWS 

       130        140        150        160        170        180 
QTRGEQLVVS GSWDQTVKLW DPTVGKSLCT FRGHESIIYS TIWSPHIPGC FASASGDQTL 

       190        200        210        220        230        240 
RIWDVKAAGV RIVIPAHQAE ILSCDWCKYN ENLLVTGAVD CSLRGWDLRN VRQPVFELLG 

       250        260        270        280        290        300 
HTYAIRRVKF SPFHASVLAS CSYDFTVRFW NFSKPDSLLE TVEHHTEFTC GLDFSLQSPT 

       310        320 
QVADCSWDET IKIYDPACLT IPA 

« Hide

References

« Hide 'large scale' references
[1]"Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor."
Purdue P.E., Zhang J.W., Skoneczny M., Lazarow P.B.
Nat. Genet. 15:381-384(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata."
Braverman N., Steel G., Obie C., Moser A., Moser H., Gould S.J., Valle D.
Nat. Genet. 15:369-376(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS RCDP1 ARG-217 AND VAL-218.
Tissue: Retina.
[3]"PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter."
Braverman N., Steel G., Lin P., Moser A., Moser H., Valle D.
Genomics 63:181-192(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Ovary.
[5]"Identification of PEX7 as the second gene involved in Refsum disease."
van den Brink D.M., Brites P., Haasjes J., Wierzbicki A.S., Mitchell J., Lambert-Hamill M., de Belleroche J., Jansen G.A., Waterham H.R., Wanders R.J.A.
Am. J. Hum. Genet. 72:471-477(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PBD9B PRO-14.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U88871 mRNA. Translation: AAC51238.1.
U76560 mRNA. Translation: AAB50556.1.
AF180814 expand/collapse EMBL AC list , AF180806, AF180807, AF180808, AF180809, AF180810, AF180811, AF180812, AF180813 Genomic DNA. Translation: AAF37350.1.
BC006268 mRNA. Translation: AAH06268.1.
RefSeqNP_000279.1. NM_000288.3.
UniGeneHs.280932.

3D structure databases

ProteinModelPortalO00628.
SMRO00628. Positions 11-315.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111214. 9 interactions.
IntActO00628. 3 interactions.
MINTMINT-2997901.
STRING9606.ENSP00000315680.

Protein family/group databases

TCDB3.A.20.1.1. the peroxisomal protein importer (ppi) family.

PTM databases

PhosphoSiteO00628.

Proteomic databases

PRIDEO00628.

Protocols and materials databases

DNASU5191.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318471; ENSP00000315680; ENSG00000112357.
GeneID5191.
KEGGhsa:5191.
UCSCuc003qhd.3. human.

Organism-specific databases

CTD5191.
GeneCardsGC06P137185.
HGNCHGNC:8860. PEX7.
HPAHPA049202.
MIM215100. phenotype.
601757. gene.
614879. phenotype.
neXtProtNX_O00628.
Orphanet773. Refsum disease.
309789. Rhizomelic chondrodysplasia punctata type 1.
PharmGKBPA33202.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000204332.
HOVERGENHBG003354.
InParanoidO00628.
KOK13341.
OMACVYQALF.
PhylomeDBO00628.
TreeFamTF323220.

Enzyme and pathway databases

SignaLinkO00628.

Gene expression databases

ArrayExpressO00628.
BgeeO00628.
CleanExHS_PEX7.
GenevestigatorO00628.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 6 hits.
[Graphical view]
PRINTSPR00320. GPROTEINBRPT.
SMARTSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
PROSITEPS00678. WD_REPEATS_1. 3 hits.
PS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi5191.
NextBio20076.
PROO00628.
SOURCESearch...

Entry information

Entry namePEX7_HUMAN
AccessionPrimary (citable) accession number: O00628
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 1, 1997
Last modified: April 16, 2014
This is version 127 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM