O00628 (PEX7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Peroxisomal targeting signal 2 receptor
Short name=PTS2 receptor

Alternative name(s):
Peroxin-7

Gene names

Name:	PEX7
Synonyms:	PTS2R

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	323 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Cytoplasm Peroxisome
Coding sequence diversity	Polymorphism
Disease	Cataract Deafness Disease mutation Ichthyosis Peroxisome biogenesis disorder Retinitis pigmentosa Rhizomelic chondrodysplasia punctata
Domain	Repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	endochondral ossification Inferred from electronic annotation. Source: Compara ether lipid biosynthetic process Inferred from mutant phenotype Ref.5Ref.1. Source: UniProtKB fatty acid beta-oxidation Inferred from electronic annotation. Source: Compara neuron migration Inferred from electronic annotation. Source: Compara protein import into peroxisome matrix Inferred from mutant phenotype Ref.5. Source: UniProtKB
Cellular_component	cytosol Inferred from direct assay PubMed 11931631. Source: UniProtKB peroxisomal matrix Inferred from direct assay PubMed 11931631. Source: UniProtKB
Molecular_function	peroxisome matrix targeting signal-2 binding Inferred from direct assay PubMed 11931631Ref.2. Source: UniProtKB protein homodimerization activity Inferred from direct assay PubMed 11931631. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 323	323	Peroxisomal targeting signal 2 receptor		PRO_0000051116
Regions
	Repeat	65 – 96	32	WD 1
	Repeat	109 – 141	33	WD 2
	Repeat	153 – 184	32	WD 3
	Repeat	196 – 227	32	WD 4
	Repeat	240 – 271	32	WD 5
	Repeat	284 – 315	32	WD 6
Natural variations
	Natural variant	14	1	T → P in PBD9B. Ref.5		VAR_016810
	Natural variant	217	1	G → R in RCDP1; unknown pathological significance. Ref.2		VAR_007725
	Natural variant	218	1	A → V in RCDP1. Ref.2		VAR_007726

Sequences

	Sequence		Length	Mass (Da)
	O00628 [UniParc]. Last modified July 1, 1997. Version 1. Checksum: D405387F7F14B432	FASTA	323	35,892
	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

References

	« Hide 'large scale' referencesShow '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

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	U88871 mRNA. Translation: AAC51238.1. U76560 mRNA. Translation: AAB50556.1. AF180814 , AF180806, AF180807, AF180808, AF180809, AF180810, AF180811, AF180812, AF180813 Genomic DNA. Translation: AAF37350.1. BC006268 mRNA. Translation: AAH06268.1.
IPI	IPI00012577.
RefSeq	NP_000279.1. NM_000288.3.
UniGene	Hs.280932.
3D structure databases
ProteinModelPortal	O00628.
ModBase	Search...
Protein-protein interaction databases
IntAct	O00628. 1 interaction.
STRING	9606.ENSP00000315680.
Protein family/group databases
TCDB	3.A.20.1.1. peroxisomal protein importer (PPI) family.
PTM databases
PhosphoSite	O00628.
Proteomic databases
PRIDE	O00628.
Protocols and materials databases
DNASU	5191.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000318471; ENSP00000315680; ENSG00000112357.
GeneID	5191.
KEGG	hsa:5191.
UCSC	uc003qhd.3. human.
Organism-specific databases
CTD	5191.
GeneCards	GC06P137185.
HGNC	HGNC:8860. PEX7.
HPA	HPA049202.
MIM	215100. phenotype. 601757. gene. 614879. phenotype.
neXtProt	NX_O00628.
Orphanet	773. Refsum disease. 177. Rhizomelic chondrodysplasia punctata.
PharmGKB	PA33202.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOGENOM	HOG000204332.
HOVERGEN	HBG003354.
InParanoid	O00628.
KO	K13341.
OMA	GHEYAVR.
PhylomeDB	O00628.
Gene expression databases
ArrayExpress	O00628.
Bgee	O00628.
CleanEx	HS_PEX7.
Genevestigator	O00628.
GermOnline	ENSG00000112357. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 1 hit.
InterPro	IPR020472. 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]
Pfam	PF00400. WD40. 6 hits. [Graphical view]
PRINTS	PR00320. GPROTEINBRPT.
SMART	SM00320. WD40. 6 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. 3 hits. PS50082. WD_REPEATS_2. 4 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5191.
NextBio	20076.
SOURCE	Search...

Entry information

Entry name

PEX7_HUMAN

Accession

Primary (citable) accession number: O00628

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	July 1, 1997
Last modified:	May 1, 2013
This is version 118 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.