PEX7
entrez
5191
canonical
uniprot
O00628
canonical
ensembl
ENSG00000112357
resolver
ensp
ENSP00000315680
resolver
ensp
ENSP00000502962
resolver
ensp
ENSP00000535501
resolver
ensp
ENSP00000672022
resolver
enst
ENST00000678557
resolver
genesymbol
PEX7
resolver
genesymbol_syn
PTS2R
resolver
hgnc
HGNC:8860
resolver
uniprot
A0A7I2V2J8
resolver
uniprot
C0H5X6
resolver
uniprot
Q6FGN1
resolver
uniprot_entry
A0A7I2V2J8_HUMAN
resolver
uniprot_entry
PEX7_HUMAN
resolver
uniprot_entry
Q6FGN1_HUMAN
resolver
uniprot_sec
C0H5X6
resolver
amino_acid_sequence
MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLFRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGAVDCSLRGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLETVEHHTEFTCGLDFSLQSPTQVADCSWDETIKIYDPACLTIPA
uniprot
proteins
disease_involvement
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 variants 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 intellectual disability with spasticity. {ECO:0000269|PubMed:9090381, ECO:0000269|PubMed:9090383}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor required for the peroxisomal import of proteins containing an N-terminal PTS2-type peroxisomal targeting signal (PubMed:11931631, PubMed:22057399, PubMed:25538232, PubMed:9090381, PubMed:40739340). Specifically binds to cargo proteins containing a PTS2 peroxisomal targeting signal in the cytosol (PubMed:11931631, PubMed:22057399, PubMed:25538232). Cargo protein-binding triggers interaction with PEX5 and formation of a ternary complex composed of PEX5 and PEX7 along with PTS2-containing cargo proteins, which is translocated into peroxisomes by passing through the PEX13-PEX14 docking complex (PubMed:11546814, PubMed:25538232). {ECO:0000269|PubMed:11546814, ECO:0000269|PubMed:11931631, ECO:0000269|PubMed:22057399, ECO:0000269|PubMed:25538232, ECO:0000269|PubMed:40739340, ECO:0000269|PubMed:9090381}.
uniprot
proteins
mass_dalton
35892
uniprot
proteins
mutagenesis
MUTAGEN 77; /note="E->A: Abolishes interaction with PEX39. Abolishes interaction with PEX13."; /evidence="ECO:0000269|PubMed:40739340"; MUTAGEN 113; /note="E->R: Impaired binding to cargo proteins containing a PTS2 peroxisomal targeting signal."; /evidence="ECO:0000269|PubMed:22057399, ECO:0000269|PubMed:25538232"; MUTAGEN 200; /note="E->R: Impaired binding to cargo proteins containing a PTS2 peroxisomal targeting signal."; /evidence="ECO:0000269|PubMed:22057399, ECO:0000269|PubMed:25538232"; MUTAGEN 287; /note="E->R: Impaired interaction with PEX5, leading to decreased peroxisomal import of proteins containing a PTS2 peroxisomal targeting signal."; /evidence="ECO:0000269|PubMed:22057399, ECO:0000269|PubMed:25538232
uniprot
proteins
protein_family
WD repeat peroxin-7 family
uniprot
proteins
pubmed
10673331
uniprot
proteins
pubmed
11546814
uniprot
proteins
pubmed
11931631
uniprot
proteins
pubmed
12522768
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22057399
uniprot
proteins
pubmed
25538232
uniprot
proteins
pubmed
30204880
uniprot
proteins
pubmed
33389129
uniprot
proteins
pubmed
40739340
uniprot
proteins
pubmed
9090381
uniprot
proteins
pubmed
9090383
uniprot
proteins
sequence_length
323
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11931631, ECO:0000269|PubMed:25538232}. Peroxisome matrix {ECO:0000269|PubMed:11546814, ECO:0000269|PubMed:11931631, ECO:0000269|PubMed:25538232}. Note=Translocated into the peroxisome matrix together with PTS2-containing cargo proteins and PEX5. {ECO:0000269|PubMed:25538232}.
uniprot
proteins