PEX14
entrez
5195
canonical
uniprot
O75381
canonical
ensembl
ENSG00000142655
resolver
ensp
ENSP00000349016
resolver
ensp
ENSP00000559338
resolver
genesymbol
PEX14
resolver
hgnc
HGNC:8856
resolver
uniprot
B2R7N1
resolver
uniprot
B3KML6
resolver
uniprot
B7Z1N2
resolver
uniprot
Q8WX51
resolver
uniprot_entry
PEX14_HUMAN
resolver
uniprot_sec
B2R7N1
resolver
uniprot_sec
B3KML6
resolver
uniprot_sec
B7Z1N2
resolver
uniprot_sec
Q8WX51
resolver
amino_acid_sequence
MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTDEEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD
uniprot
proteins
disease_involvement
DISEASE: Peroxisome biogenesis disorder complementation group K (PBD-CGK) [MIM:614887]: 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). {ECO:0000269|PubMed:15146459}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 13A (PBD13A) [MIM:614887]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269|PubMed:15146459}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (PubMed:24235149, PubMed:28765278, PubMed:9653144). The PEX13-PEX14 docking complex forms a large import pore which can be opened to a diameter of about 9 nm (By similarity). Mechanistically, PEX5 receptor along with cargo proteins associates with the PEX14 subunit of the PEX13-PEX14 docking complex in the cytosol, leading to the insertion of the receptor into the organelle membrane with the concomitant translocation of the cargo into the peroxisome matrix (PubMed:24235149, PubMed:28765278). Plays a key role for peroxisome movement through a direct interaction with tubulin (PubMed:21525035). {ECO:0000250|UniProtKB:P53112, ECO:0000269|PubMed:21525035, ECO:0000269|PubMed:24235149, ECO:0000269|PubMed:28765278, ECO:0000269|PubMed:9653144}.
uniprot
proteins
mass_dalton
41237
uniprot
proteins
mutagenesis
MUTAGEN 52; /note="F->A,W: Reduced interaction with PEX19, minor effect on interaction with PEX5."; /evidence="ECO:0000269|PubMed:19197237"; MUTAGEN 56; /note="K->A,E: Reduced interaction with PEX19, minor effect on interaction with PEX5."; /evidence="ECO:0000269|PubMed:19197237
uniprot
proteins
protein_family
Peroxin-14 family
uniprot
proteins
pubmed
10212238
uniprot
proteins
pubmed
10704444
uniprot
proteins
pubmed
11438541
uniprot
proteins
pubmed
12488033
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15146459
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
19197237
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21525035
uniprot
proteins
pubmed
21976670
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24235149
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28765278
uniprot
proteins
pubmed
9653144
uniprot
proteins
sequence_length
377
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:19197237}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q642G4}.
uniprot
proteins
transmembrane_region
TRANSMEM 109..126; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins