PDZD8
entrez
118987
canonical
uniprot
Q8NEN9
canonical
ensembl
ENSG00000165650
resolver
ensp
ENSP00000334642
resolver
ensp
ENSP00000538854
resolver
ensp
ENSP00000645619
resolver
ensp
ENSP00000645620
resolver
ensp
ENSP00000775632
resolver
enst
ENST00000334464
resolver
genesymbol
PDZD8
resolver
genesymbol_syn
PDZK8
resolver
hgnc
HGNC:26974
resolver
uniprot
Q86WE0
resolver
uniprot
Q86WE5
resolver
uniprot
Q9UFF1
resolver
uniprot_entry
PDZD8_HUMAN
resolver
uniprot_sec
Q86WE0
resolver
uniprot_sec
Q86WE5
resolver
uniprot_sec
Q9UFF1
resolver
amino_acid_sequence
MGLLLMILASAVLGSFLTLLAQFFLLYRRQPEPPADEAARAGEGFRYIKPVPGLLLREYLYGGGRDEEPSGAAPEGGATPTAAPETPAPPTRETCYFLNATILFLFRELRDTALTRRWVTKKIKVEFEELLQTKTAGRLLEGLSLRDVFLGETVPFIKTIRLVRPVVPSATGEPDGPEGEALPAACPEELAFEAEVEYNGGFHLAIDVDLVFGKSAYLFVKLSRVVGRLRLVFTRVPFTHWFFSFVEDPLIDFEVRSQFEGRPMPQLTSIIVNQLKKIIKRKHTLPNYKIRFKPFFPYQTLQGFEEDEEHIHIQQWALTEGRLKVTLLECSRLLIFGSYDREANVHCTLELSSSVWEEKQRSSIKTVELIKGNLQSVGLTLRLVQSTDGYAGHVIIETVAPNSPAAIADLQRGDRLIAIGGVKITSTLQVLKLIKQAGDRVLVYYERPVGQSNQGAVLQDNFGQLEENFLSSSCQSGYEEEAAGLTVDTESRELDSEFEDLASDVRAQNEFKDEAQSLSHSPKRVPTTLSIKPLGAISPVLNRKLAVGSHPLPPKIQSKDGNKPPPLKTSEITDPAQVSKPTQGSAFKPPVPPRPQAKVPLPSADAPNQAEPDVLVEKPEKVVPPPLVDKSAEKQAKNVDAIDDAAAPKQFLAKQEVAKDVTSETSCPTKDSSDDRQTWESSEILYRNKLGKWTRTRASCLFDIEACHRYLNIALWCRDPFKLGGLICLGHVSLKLEDVALGCLATSNTEYLSKLRLEAPSPKAIVTRTALRNLSMQKGFNDKFCYGDITIHFKYLKEGESDHHVVTNVEKEKEPHLVEEVSVLPKEEQFVGQMGLTENKHSFQDTQFQNPTWCDYCKKKVWTKAASQCMFCAYVCHKKCQEKCLAETSVCGATDRRIDRTLKNLRLEGQETLLGLPPRVDAEASKSVNKTTGLTRHIINTSSRLLNLRQVSKTRLSEPGTDLVEPSPKHTPNTSDNEGSDTEVCGPNSPSKRGNSTGIKLVRKEGGLDDSVFIAVKEIGRDLYRGLPTEERIQKLEFMLDKLQNEIDQELEHNNSLVREEKETTDTRKKSLLSAALAKSGERLQALTLLMIHYRAGIEDIETLESLSLDQHSKKISKYTDDTEEDLDNEISQLIDSQPFSSISDDLFGPSESV
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) [MIM:620021]: An autosomal recessive neurodevelopmental disorder characterized by moderate to severe intellectual disability with autistic features, myopathy, and facial dysmorphism. {ECO:0000269|PubMed:35227461, ECO:0000269|PubMed:40016860}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Lipid transfer and molecular tethering protein, which plays a key role in the formation of membrane contact sites between the endoplasmic reticulum and other organelles, such as late endosomes/lysosomes and mitochondria (PubMed:29097544, PubMed:31636202, PubMed:31818884, PubMed:32686675, PubMed:33912962, PubMed:40246839, PubMed:40839735, PubMed:41512824). Facilitates the exchange of lipids at membrane contact sites between the endoplasmic reticulum and organelles by mediating the transport of lipids, such as ceramide, cholesterol and phosphatidylserine (PubMed:33912962, PubMed:40839735). Also acts as a molecular glue by undergoing liquid-liquid phase separation, forming condensates that mediate stable adhesion between endoplasmic reticulum and surrounding organelles, connecting two distinct membrane-bound vesicles coupled together (PubMed:41512824). Connects the endoplasmic reticulum to late endosomes/lysosomes, facilitating the exchange of lipids, which is crucial for membrane remodeling and processes, such as neurite outgrowth (PubMed:31636202, PubMed:32686675, PubMed:33912962). PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer (PubMed:29097544, PubMed:31818884, PubMed:40246839). In neurons, involved in the regulation of dendritic Ca(2+) dynamics by regulating mitochondrial Ca(2+) uptake in neurons (PubMed:29097544). Mediates lysosomal vacuolation, a process during which lysosomes abnormally enlarge into large membrane-bound sacs in response to stress such as osmotic stress: acts by mediating bulk lipid transfer from the endoplasmic reticulum to lysosomes, leading to vacuole formation (PubMed:40839735). Plays an indirect role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). May indirectly inhibit herpes simplex virus 1 infection at an early stage (PubMed:21549406). {ECO:0000269|PubMed:21549406, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:29097544, ECO:0000269|PubMed:31636202, ECO:0000269|PubMed:31818884, ECO:0000269|PubMed:32686675, ECO:0000269|PubMed:33912962, ECO:0000269|PubMed:40246839, ECO:0000269|PubMed:40839735, ECO:0000269|PubMed:41512824}.
uniprot
proteins
mass_dalton
128563
uniprot
proteins
mutagenesis
MUTAGEN 134..138; /note="KTAGR->ETAGE: In Mut1; abolished phosphatidylserine transport and ability to promote lysosome vacuolation."; /evidence="ECO:0000269|PubMed:40839735"; MUTAGEN 138; /note="R->E: In Mut2; abolished phosphatidylserine transport and ability to promote lysosome vacuolation; when associated with E-277-281-E."; /evidence="ECO:0000269|PubMed:40839735"; MUTAGEN 212..214; /note="FGK->AGE: In Mut5; abolished cholesterol transport and ability to promote lysosome vacuolation."; /evidence="ECO:0000269|PubMed:40839735"; MUTAGEN 212; /note="F->A: In Mut3; abolished cholesterol transport and ability to promote lysosome vacuolation."; /evidence="ECO:0000269|PubMed:40839735"; MUTAGEN 214; /note="K->E: In Mut4; abolished cholesterol transport and ability to promote lysosome vacuolation; when associated with E-262."; /evidence="ECO:0000269|PubMed:40839735"; MUTAGEN 259..262; /note="FEGR->AEGE: In Mut6; abolished cholesterol transport and ability to promote lysosome vacuolation."; /evidence="ECO:0000269|PubMed:40839735"; MUTAGEN 262; /note="R->E: In Mut4; abolished cholesterol transport and ability to promote lysosome vacuolation; when associated with E-214."; /evidence="ECO:0000269|PubMed:40839735"; MUTAGEN 277..281; /note="KIIKR->EIIKE: In Mut2; abolished phosphatidylserine transport and ability to promote lysosome vacuolation; when associated with E-138."; /evidence="ECO:0000269|PubMed:40839735
uniprot
proteins
protein_family
PDZD8 family
uniprot
proteins
pubmed
12601173
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20573829
uniprot
proteins
pubmed
21549406
uniprot
proteins
pubmed
21834987
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24554657
uniprot
proteins
pubmed
25771112
uniprot
proteins
pubmed
29097544
uniprot
proteins
pubmed
31636202
uniprot
proteins
pubmed
31818884
uniprot
proteins
pubmed
32686675
uniprot
proteins
pubmed
33912962
uniprot
proteins
pubmed
34552186
uniprot
proteins
pubmed
35227461
uniprot
proteins
pubmed
39390519
uniprot
proteins
pubmed
40016860
uniprot
proteins
pubmed
40246839
uniprot
proteins
pubmed
40839735
uniprot
proteins
pubmed
41512824
uniprot
proteins
sequence_length
1154
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:29097544, ECO:0000269|PubMed:31818884, ECO:0000269|PubMed:33912962, ECO:0000269|PubMed:40839735, ECO:0000269|PubMed:41512824}; Single-pass membrane protein {ECO:0000255}. Note=Localizes at mitochondria-endoplasmic reticulum contact sites (PubMed:29097544, PubMed:31818884, PubMed:41512824). Localizes at late endosome- and lysosome-endoplasmic reticulum contact sites (PubMed:31636202, PubMed:32686675, PubMed:33912962, PubMed:41512824). Localizes at lysosome-endoplasmic reticulum contact sites in response to osmotic stress (PubMed:40839735). {ECO:0000269|PubMed:29097544, ECO:0000269|PubMed:31636202, ECO:0000269|PubMed:31818884, ECO:0000269|PubMed:32686675, ECO:0000269|PubMed:33912962, ECO:0000269|PubMed:40839735, ECO:0000269|PubMed:41512824}.
uniprot
proteins
transmembrane_region
TRANSMEM 2..24; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins