Reviewed, UniProtKB/Swiss-Prot O00628 (PEX7_HUMAN)

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) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	323 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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	Defects in PEX7 are the cause of peroxisome biogenesis disorder complementation group 11 (PBD-CG11) [MIM:601757]. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: 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. The PBD group is genetically heterogeneous with at least 13 distinct genetic groups as concluded from complementation studies. Defects in PEX7 are the cause of rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]. RCDP1 is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. Ref.2 Defects in PEX7 are a cause of Refsum disease (RD) [MIM:266500]; also known as phytanic acid oxidase deficiency. RD is clinically characterized by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or third decade of life. Ref.5
Sequence similarities	Belongs to the WD repeat peroxin-7 family. Contains 6 WD repeats.

Ontologies

Keywords
Biological process	Protein transport Sensory transduction Transport Vision
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
Gene Ontology (GO)
Biological process	ether lipid biosynthetic process Ref.1 Ref.5 Inferred from mutant phenotype. Source: UniProtKB protein import into peroxisome matrix Ref.2 Ref.5 Inferred from mutant phenotype. Source: UniProtKB response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	peroxisome Traceable author statement. Source: ProtInc
Molecular function	peroxisome matrix targeting signal-2 binding Ref.2 Inferred from direct assay. 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 RD. Ref.5		VAR_016810
	Natural variant	217	1	G → R in RCDP1; could be a polymorphism. Ref.2		VAR_007725
	Natural variant	218	1	A → V in RCDP1. Ref.2		VAR_007726

Sequences

	Sequence		Length	Mass (Da)
	O00628-1 [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: 9090383] [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: 9090381] [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: 10673331] [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: 15489334] [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: 12522768] [Abstract] Cited for: VARIANT RD PRO-14.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
UniGene	Hs.280932
3D structure databases
HSSP	HSSP built from PDB template 1ERJ based on UniProtKB P16649.
ModBase	Search...
Protein-protein interaction databases
STRING	O00628.
Protein family/group databases
TCDB	9.A.5.1.1. peroxisomal protein importer (PPI) family.
Proteomic databases
PRIDE	O00628.
Genome annotation databases
Ensembl	ENST00000318471; ENSP00000315680; ENSG00000112357; Homo sapiens. [Genome view] ENST00000367756; ENSP00000356730; ENSG00000112357; Homo sapiens. [Genome view]
GeneID	5191.
KEGG	hsa:5191.
UCSC	uc003qhd.1. human.
Organism-specific databases
CTD	5191.
GeneCards	GC06P137185.
H-InvDB	HIX0022916.
HGNC	HGNC:8860. PEX7.
MIM	215100. phenotype. 266500. phenotype. 601539. phenotype. 601757. gene.
Orphanet	177. Chondrodysplasia punctata, rhizomelic type. 773. Refsum disease.
PharmGKB	PA33202.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O00628.
HOVERGEN	O00628.
OMA	SEIHENQ.
Gene expression databases
ArrayExpress	O00628.
Bgee	O00628.
CleanEx	HS_PEX7.
Genevestigator	O00628.
GermOnline	ENSG00000112357. Homo sapiens.
Family and domain databases
InterPro	IPR020472. G-protein_beta_WD-40_rep_reg. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019782. WD40_repeat_2. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. IPR019781. WD40_repeat_sg. [Graphical view]
Gene3D	G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit.
Pfam	PF00400. WD40. 6 hits. [Graphical view]
PRINTS	PR00320. GPROTEINBRPT.
ProDom	PD000018. WD40. 4 hits. [Graphical view] [Entries sharing at least one domain]
SMART	SM00320. WD40. 6 hits. [Graphical view]
PROSITE	PS00678. WD_REPEATS_1. 3 hits. PS50082. WD_REPEATS_2. 4 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	November 3, 2009
This is version 86 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.