PREPL
entrez
9581
canonical
uniprot
Q4J6C6
canonical
ensembl
ENSG00000138078
resolver
ensp
ENSP00000260648
resolver
ensp
ENSP00000367772
resolver
ensp
ENSP00000367781
resolver
ensp
ENSP00000386509
resolver
ensp
ENSP00000386543
resolver
ensp
ENSP00000386909
resolver
ensp
ENSP00000387095
resolver
ensp
ENSP00000387241
resolver
ensp
ENSP00000439626
resolver
ensp
ENSP00000576169
resolver
ensp
ENSP00000672701
resolver
genesymbol
PREPL
resolver
genesymbol_syn
KIAA0436
resolver
hgnc
HGNC:30228
resolver
uniprot
A7E2X6
resolver
uniprot
D6W5A3
resolver
uniprot
O43163
resolver
uniprot
Q4J6C3
resolver
uniprot
Q4J6C4
resolver
uniprot
Q4ZG39
resolver
uniprot
Q6ZMW7
resolver
uniprot
Q96DW7
resolver
uniprot_entry
PPCEL_HUMAN
resolver
uniprot_sec
A7E2X6
resolver
uniprot_sec
D6W5A3
resolver
uniprot_sec
O43163
resolver
uniprot_sec
Q4J6C3
resolver
uniprot_sec
Q4J6C4
resolver
uniprot_sec
Q4ZG39
resolver
uniprot_sec
Q6ZMW7
resolver
uniprot_sec
Q96DW7
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by PMSF and Prefabloc, as well as leupeptin at high concentrations (PubMed:16385448). Partially inhibited by TPCK, a chymotrypsin inhibitor and E64, a cysteine protease inhibitor (PubMed:16385448). Not affected by 4-amidinophenyl-methanesulfonyl fluoride (APMSF), pepstatin or EDTA (PubMed:16385448). Inhibited by 1-isobutyl-3-oxo-3,5,6,7-tetrahydro-2H-cyclopenta[c]pyridine-4-carbonitrile (PubMed:28726805). {ECO:0000269|PubMed:16385448, ECO:0000269|PubMed:28726805}.
uniprot
proteins
amino_acid_sequence
MQQKTKLFLQALKYSIPHLGKCMQKQHLNHYNFADHCYNRIKLKKYHLTKCLQNKPKISELARNIPSRSFSCKDLQPVKQENEKPLPENMDAFEKVRTKLETQPQEEYEIINVEVKHGGFVYYQEGCCLVRSKDEEADNDNYEVLFNLEELKLDQPFIDCIRVAPDEKYVAAKIRTEDSEASTCVIIKLSDQPVMEASFPNVSSFEWVKDEEDEDVLFYTFQRNLRCHDVYRATFGDNKRNERFYTEKDPSYFVFLYLTKDSRFLTINIMNKTTSEVWLIDGLSPWDPPVLIQKRIHGVLYYVEHRDDELYILTNVGEPTEFKLMRTAADTPAIMNWDLFFTMKRNTKVIDLDMFKDHCVLFLKHSNLLYVNVIGLADDSVRSLKLPPWACGFIMDTNSDPKNCPFQLCSPIRPPKYYTYKFAEGKLFEETGHEDPITKTSRVLRLEAKSKDGKLVPMTVFHKTDSEDLQKKPLLVHVYGAYGMDLKMNFRPERRVLVDDGWILAYCHVRGGGELGLQWHADGRLTKKLNGLADLEACIKTLHGQGFSQPSLTTLTAFSAGGVLAGALCNSNPELVRAVTLEAPFLDVLNTMMDTTLPLTLEELEEWGNPSSDEKHKNYIKRYCPYQNIKPQHYPSIHITAYENDERVPLKGIVSYTEKLKEAIAEHAKDTGEGYQTPNIILDIQPGGNHVIEDSHKKITAQIKFLYEELGLDSTSVFEDLKKYLKF
uniprot
proteins
disease_involvement
DISEASE: Hypotonia-cystinuria syndrome (HCS) [MIM:606407]: Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. {ECO:0000269|PubMed:16385448, ECO:0000269|PubMed:21686663, ECO:0000269|PubMed:23321636, ECO:0000269|PubMed:23485813, ECO:0000269|PubMed:28726805}. Note=The gene represented in this entry is involved in disease pathogenesis. Hypotonia-cystinuria syndrome is a contiguous gene syndrome caused by a homozygous deletion on chromosome 2p21 that disrupts the gene represented in this entry and SLC3A1 (PubMed:16385448, PubMed:21686663). A homozygous 77.4-kb deletion that disrupts the gene represented in this entry, SLC3A1 and CAMKMT, causes atypical hypotonia-cystinuria syndrome, characterized by mild to moderate intellectual disability and respiratory chain complex IV deficiency (PubMed:21686663). Patient cells exhibit a larger trans-Golgi network and a reduced redistribution of AP-1 complex, which causes impairment in AP-1 mediated membrane-cytoplasm recycling and secretion (PubMed:23321636). {ECO:0000269|PubMed:16385448, ECO:0000269|PubMed:21686663, ECO:0000269|PubMed:23321636}.; DISEASE: Myasthenic syndrome, congenital, 22 (CMS22) [MIM:616224]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS22 is an autosomal recessive form characterized by neonatal hypotonia. {ECO:0000269|PubMed:24610330, ECO:0000269|PubMed:29483676}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.21.-
uniprot
proteins
function
FUNCTION: Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex (PubMed:23321636). May play a role in the regulation of synaptic vesicle exocytosis (PubMed:24610330). {ECO:0000269|PubMed:16143824, ECO:0000269|PubMed:16385448, ECO:0000269|PubMed:23321636, ECO:0000269|PubMed:24610330, ECO:0000269|PubMed:28726805}.
uniprot
proteins
mass_dalton
83927
uniprot
proteins
mutagenesis
MUTAGEN 559; /note="S->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:16385448"; MUTAGEN 645; /note="D->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:16385448"; MUTAGEN 690; /note="H->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:16385448"; MUTAGEN 696; /note="H->A: No effect on catalytic activity."; /evidence="ECO:0000269|PubMed:16385448
uniprot
proteins
protein_family
Peptidase S9A family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15913950
uniprot
proteins
pubmed
16143824
uniprot
proteins
pubmed
16385448
uniprot
proteins
pubmed
21686663
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23321636
uniprot
proteins
pubmed
23485813
uniprot
proteins
pubmed
24610330
uniprot
proteins
pubmed
28726805
uniprot
proteins
pubmed
29483676
uniprot
proteins
pubmed
30237576
uniprot
proteins
pubmed
9455477
uniprot
proteins
sequence_length
727
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16385448, ECO:0000269|PubMed:23485813}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:Q8C167}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q8C167}. Golgi apparatus {ECO:0000250|UniProtKB:Q8C167}. Nucleus {ECO:0000269|PubMed:23485813}. Note=Co-localizes with AP-1 in the trans-Golgi network (By similarity). Co-localizes with MAP2 and ACTB on the cytoskeleton (By similarity). Co-localizes with STX6 and GOSR2 at the Golgi apparatus (By similarity). {ECO:0000250|UniProtKB:Q8C167}.
uniprot
proteins