Pdzd8
entrez
107368
canonical
uniprot
B9EJ80
canonical
ensembl
ENSMUSG00000074746
resolver
ensp
ENSMUSP00000096880
resolver
enst
ENSMUST00000099274
resolver
genesymbol
Pdzd8
resolver
uniprot
Q3UMB1
resolver
uniprot_entry
PDZD8_MOUSE
resolver
uniprot_sec
Q3UMB1
resolver
amino_acid_sequence
MGLLLLILASAVLGSFLTLLAQFLLLYRRQPEPRADEAARAGDGFRYLKPVPGLPLREYLYGGGAEELAACSSEAGASSTPTPDSPAPPTLETCYFLNATILFLFRELRDTALARRWVTKKIKVEFEELLQTKTAGRLLEGLSLRDVFLGDTVPFIKTIRLVRPVVASGTGEPDDPDGDALPATCPEELAFEAEVEYNGGFHLAIDVDLVFGKSAYLFVKLSRVVGRLRFVLTRVPFTHWFFSFVEDPLIDFEVRSQFEGRPMPQLTSIIVNQLKKIIKRKHTLPSYKIRFKPFFPYQALQGFEEDEELIHIQQWALTEGRLKVTLLECSRLFIFGSYDRETNVHCTLELSSGVWEEKQRSSIKTVELIKGNLQSVGLTLRLVQSTDGYAGHVIIETVAPNSPAAMADLQRGDRLIAIGGVKITSTLQVLKLIKQAGDRVLVYYQRPAGQSSQDSLGQLEESFLSSSCQAAYEEDAAGLSADTENRDLDSEFEDLASDVRVQTELKEETQPLSHSPKRTPTTLSIKPLGAISPVLNRKLISGIHPPPQKLPSKEGNKPSTLKTSETTEAAQVSKPQGPTFKPPVPPRPQGRVPLPPTDTSAQADPEAPEKPDKVLLPPPPADKPAEKQVKSVDQGEDVAAGKQSSAKQEGVKDLPSESSAPTKDSSDDPQMWESSEVLYRNKVGKWSRTRASCVFDIEACHRYLNIALWCRDPFKLGGLICLGHVSLKLEEVALGCLATSNMEYLTKFRLEPPTPKAMVTRTALRNLSMQKGFNDKFCFGDITIHFKYLKEGEPDHHIVPNVEKEKELHLVEEVSTLPKEEHFVGQMSLSENKHSFQDTQFQNPTWCDYCKKKVWTKAASQCMFCAYVCHKKCQEKCLAETPLCGATERRIDRTLKNLRLEGQDPLLGLPPRVEIEANKSVNKTTGLTRHIINTSSRLLNLRQVSKTRLSEPGTDLVEPSPKHTPNTSDNEGSDTEVCGSNSPSKRGNSAGIKLMRKEGGLDDSVFIAVKEIGRDLYRGLPTEERIQKLEFMLDKLQNEIDQELEHNNSLVREEKETNDTRKKSVLSAALAKSGERLQALTLLMIHYRAGIEDIETLENLSLDQHSKKMNKYADDTEEDLDSEISQLIDSQPFSNISDDLFGPSESV
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:32917905, PubMed:36465123, PubMed:39069376). 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:32917905, PubMed:36465123). 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 (By similarity). 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:32917905, PubMed:36465123). PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer (PubMed:29097544, PubMed:39069376, 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 (By similarity). Plays an indirect role in the regulation of cell morphology and cytoskeletal organization (By similarity). {ECO:0000250|UniProtKB:Q8NEN9, ECO:0000269|PubMed:29097544, ECO:0000269|PubMed:32917905, ECO:0000269|PubMed:36465123, ECO:0000269|PubMed:39069376, ECO:0000269|PubMed:40246839}.
uniprot
proteins
mass_dalton
127739
uniprot
proteins
protein_family
PDZD8 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
17242355
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
29097544
uniprot
proteins
pubmed
32917905
uniprot
proteins
pubmed
35227461
uniprot
proteins
pubmed
36465123
uniprot
proteins
pubmed
36658656
uniprot
proteins
pubmed
39069376
uniprot
proteins
pubmed
40016860
uniprot
proteins
pubmed
40246839
uniprot
proteins
sequence_length
1147
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:29097544}; Single-pass membrane protein {ECO:0000255}. Note=Localizes at mitochondria-endoplasmic reticulum contact sites (PubMed:29097544). Localizes at late endosome- and lysosome-endoplasmic reticulum contact sites (By similarity). Localizes at lysosome-endoplasmic reticulum contact sites in response to osmotic stress (By similarity). {ECO:0000250|UniProtKB:Q8NEN9, ECO:0000269|PubMed:29097544}.
uniprot
proteins
transmembrane_region
TRANSMEM 2..24; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins