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Peroxisomal targeting signal 2 receptor (PTS2 receptor) (Peroxin-7)

 PEX7_HUMAN              Reviewed;         323 AA.
O00628; C0H5X6;
15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
01-JUL-1997, sequence version 1.
12-SEP-2018, entry version 168.
RecName: Full=Peroxisomal targeting signal 2 receptor;
Short=PTS2 receptor;
AltName: Full=Peroxin-7;
Name=PEX7; Synonyms=PTS2R;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=9090383; DOI=10.1038/ng0497-381;
Purdue P.E., Zhang J.W., Skoneczny M., Lazarow P.B.;
"Rhizomelic chondrodysplasia punctata is caused by deficiency of human
PEX7, a homologue of the yeast PTS2 receptor.";
Nat. Genet. 15:381-384(1997).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS RCDP1 ARG-217 AND
VAL-218.
TISSUE=Retina;
PubMed=9090381; DOI=10.1038/ng0497-369;
Braverman N., Steel G., Obie C., Moser A., Moser H., Gould S.J.,
Valle D.;
"Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible
for rhizomelic chondrodysplasia punctata.";
Nat. Genet. 15:369-376(1997).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=10673331; DOI=10.1006/geno.1999.6080;
Braverman N., Steel G., Lin P., Moser A., Moser H., Valle D.;
"PEX7 gene structure, alternative transcripts, and evidence for a
founder haplotype for the frequent RCDP allele, L292ter.";
Genomics 63:181-192(2000).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=14574404; DOI=10.1038/nature02055;
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Brain, and Ovary;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
VARIANT PBD9B PRO-14.
PubMed=12522768; DOI=10.1086/346093;
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.;
"Identification of PEX7 as the second gene involved in Refsum
disease.";
Am. J. Hum. Genet. 72:471-477(2003).
-!- FUNCTION: Binds to the N-terminal PTS2-type peroxisomal targeting
signal and plays an essential role in peroxisomal protein import.
-!- SUBUNIT: Interacts with PEX5.
-!- SUBCELLULAR LOCATION: Peroxisome. Cytoplasm.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=O00628-1; Sequence=Displayed;
Name=2;
IsoId=O00628-2; Sequence=VSP_056393;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Ubiquitous. Highest expression in pancreas,
skeletal muscle and heart.
-!- 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.
-!- DISEASE: Rhizomelic chondrodysplasia punctata 1 (RCDP1)
[MIM:215100]: A 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.
{ECO:0000269|PubMed:9090381}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: 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.
{ECO:0000269|PubMed:12522768}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the WD repeat peroxin-7 family.
{ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; U88871; AAC51238.1; -; mRNA.
EMBL; U76560; AAB50556.1; -; mRNA.
EMBL; AF180814; AAF37350.1; -; Genomic_DNA.
EMBL; AF180806; AAF37350.1; JOINED; Genomic_DNA.
EMBL; AF180807; AAF37350.1; JOINED; Genomic_DNA.
EMBL; AF180808; AAF37350.1; JOINED; Genomic_DNA.
EMBL; AF180809; AAF37350.1; JOINED; Genomic_DNA.
EMBL; AF180810; AAF37350.1; JOINED; Genomic_DNA.
EMBL; AF180811; AAF37350.1; JOINED; Genomic_DNA.
EMBL; AF180812; AAF37350.1; JOINED; Genomic_DNA.
EMBL; AF180813; AAF37350.1; JOINED; Genomic_DNA.
EMBL; AL121933; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL357082; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL365223; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471051; EAW47941.1; -; Genomic_DNA.
EMBL; BC006268; AAH06268.1; -; mRNA.
EMBL; BC031606; AAH31606.1; -; mRNA.
CCDS; CCDS5180.1; -. [O00628-1]
RefSeq; NP_000279.1; NM_000288.3. [O00628-1]
UniGene; Hs.280932; -.
ProteinModelPortal; O00628; -.
SMR; O00628; -.
BioGrid; 111214; 30.
IntAct; O00628; 4.
MINT; O00628; -.
STRING; 9606.ENSP00000315680; -.
TCDB; 3.A.20.1.1; the peroxisomal protein importer (ppi) family.
iPTMnet; O00628; -.
PhosphoSitePlus; O00628; -.
BioMuta; PEX7; -.
EPD; O00628; -.
PaxDb; O00628; -.
PeptideAtlas; O00628; -.
PRIDE; O00628; -.
ProteomicsDB; 48001; -.
DNASU; 5191; -.
Ensembl; ENST00000318471; ENSP00000315680; ENSG00000112357. [O00628-1]
Ensembl; ENST00000541292; ENSP00000441004; ENSG00000112357. [O00628-2]
GeneID; 5191; -.
KEGG; hsa:5191; -.
UCSC; uc063rtk.1; human. [O00628-1]
CTD; 5191; -.
DisGeNET; 5191; -.
EuPathDB; HostDB:ENSG00000112357.12; -.
GeneCards; PEX7; -.
GeneReviews; PEX7; -.
HGNC; HGNC:8860; PEX7.
HPA; HPA049202; -.
MalaCards; PEX7; -.
MIM; 215100; phenotype.
MIM; 601757; gene.
MIM; 614879; phenotype.
neXtProt; NX_O00628; -.
OpenTargets; ENSG00000112357; -.
Orphanet; 773; Refsum disease.
Orphanet; 309789; Rhizomelic chondrodysplasia punctata type 1.
PharmGKB; PA33202; -.
eggNOG; KOG0277; Eukaryota.
eggNOG; ENOG410XNVU; LUCA.
GeneTree; ENSGT00920000149080; -.
HOGENOM; HOG000204332; -.
HOVERGEN; HBG003354; -.
InParanoid; O00628; -.
KO; K13341; -.
OMA; NYDFTTR; -.
OrthoDB; EOG091G0C6L; -.
PhylomeDB; O00628; -.
TreeFam; TF323220; -.
Reactome; R-HSA-9033241; Peroxisomal protein import.
SignaLink; O00628; -.
SIGNOR; O00628; -.
ChiTaRS; PEX7; human.
GenomeRNAi; 5191; -.
PRO; PR:O00628; -.
Proteomes; UP000005640; Chromosome 6.
Bgee; ENSG00000112357; Expressed in 211 organ(s), highest expression level in pigmented layer of retina.
CleanEx; HS_PEX7; -.
ExpressionAtlas; O00628; baseline and differential.
Genevisible; O00628; HS.
GO; GO:0005829; C:cytosol; IDA:UniProtKB.
GO; GO:0005782; C:peroxisomal matrix; IDA:UniProtKB.
GO; GO:0005778; C:peroxisomal membrane; TAS:Reactome.
GO; GO:0005777; C:peroxisome; IDA:UniProtKB.
GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
GO; GO:0005053; F:peroxisome matrix targeting signal-2 binding; IDA:UniProtKB.
GO; GO:0042803; F:protein homodimerization activity; IDA:UniProtKB.
GO; GO:0001958; P:endochondral ossification; IEA:Ensembl.
GO; GO:0008611; P:ether lipid biosynthetic process; IMP:UniProtKB.
GO; GO:0006635; P:fatty acid beta-oxidation; IEA:Ensembl.
GO; GO:0001764; P:neuron migration; IEA:Ensembl.
GO; GO:0007031; P:peroxisome organization; IMP:UniProtKB.
GO; GO:0016558; P:protein import into peroxisome matrix; IDA:MGI.
GO; GO:0006625; P:protein targeting to peroxisome; TAS:Reactome.
Gene3D; 2.130.10.10; -; 1.
InterPro; IPR020472; G-protein_beta_WD-40_rep.
InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
InterPro; IPR001680; WD40_repeat.
InterPro; IPR019775; WD40_repeat_CS.
InterPro; IPR017986; WD40_repeat_dom.
InterPro; IPR036322; WD40_repeat_dom_sf.
Pfam; PF00400; WD40; 4.
PRINTS; PR00320; GPROTEINBRPT.
SMART; SM00320; WD40; 6.
SUPFAM; SSF50978; SSF50978; 1.
PROSITE; PS00678; WD_REPEATS_1; 3.
PROSITE; PS50082; WD_REPEATS_2; 4.
PROSITE; PS50294; WD_REPEATS_REGION; 1.
1: Evidence at protein level;
Alternative splicing; Cataract; Complete proteome; Cytoplasm;
Deafness; Disease mutation; Ichthyosis; Peroxisome;
Peroxisome biogenesis disorder; Polymorphism; Protein transport;
Reference proteome; Repeat; Retinitis pigmentosa;
Rhizomelic chondrodysplasia punctata; Transport; WD repeat.
CHAIN 1 323 Peroxisomal targeting signal 2 receptor.
/FTId=PRO_0000051116.
REPEAT 65 96 WD 1.
REPEAT 109 141 WD 2.
REPEAT 153 184 WD 3.
REPEAT 196 227 WD 4.
REPEAT 240 271 WD 5.
REPEAT 284 315 WD 6.
VAR_SEQ 250 323 FSPFHASVLASCSYDFTVRFWNFSKPDSLLETVEHHTEFTC
GLDFSLQSPTQVADCSWDETIKIYDPACLTIPA -> MESC
PVTQTRSQLTATSAFWVQAVLLPQPTE (in isoform
2). {ECO:0000303|PubMed:15489334}.
/FTId=VSP_056393.
VARIANT 14 14 T -> P (in PBD9B; dbSNP:rs61753233).
{ECO:0000269|PubMed:12522768}.
/FTId=VAR_016810.
VARIANT 217 217 G -> R (in RCDP1; unknown pathological
significance; dbSNP:rs121909152).
{ECO:0000269|PubMed:9090381}.
/FTId=VAR_007725.
VARIANT 218 218 A -> V (in RCDP1; dbSNP:rs121909151).
{ECO:0000269|PubMed:9090381}.
/FTId=VAR_007726.
SEQUENCE 323 AA; 35892 MW; D405387F7F14B432 CRC64;
MSAVCGGAAR MLRTPGRHGY AAEFSPYLPG RLACATAQHY GIAGCGTLLI LDPDEAGLRL
FRSFDWNDGL FDVTWSENNE HVLITCSGDG SLQLWDTAKA AGPLQVYKEH AQEVYSVDWS
QTRGEQLVVS GSWDQTVKLW DPTVGKSLCT FRGHESIIYS TIWSPHIPGC FASASGDQTL
RIWDVKAAGV RIVIPAHQAE ILSCDWCKYN ENLLVTGAVD CSLRGWDLRN VRQPVFELLG
HTYAIRRVKF SPFHASVLAS CSYDFTVRFW NFSKPDSLLE TVEHHTEFTC GLDFSLQSPT
QVADCSWDET IKIYDPACLT IPA


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