title: Human postsynaptic density-95 (PSD95): location of the gene (DLG4) and possible function in nonneural as well as in neural tissues.
abstract: We have determined the cDNA sequence, expression pattern, and chromosomal location of the human gene DLG4, encoding the postsynaptic density-95 (PSD95) protein. hPSD95 is a 723-amino-acid protein that is 99% identical to its rodent counterparts. This is the fourth human protein identified as showing significant similarity to the Drosophila tumor suppressor Dlg. These proteins constitute the DLG subfamily of the membrane-associated guanylate kinase protein family. The expression of DLG4 in neural tissue is consistent with the pattern observed for its rat homolog. However, DLG4 is also expressed in a wide range of nonneural tissues, suggesting that the protein may have additional roles in humans. Using radiation-hybrid mapping panels, we mapped the DLG4 locus to 17p13.1, a region associated with several diseases, the phenotypes of which are consistent with loss of PSD95 function.
authors.affiliation: Developmental Biology Center, University of California at Irvine 92697-2275, USA. dgstatha@UCI.EDU
authors.forename: D G
authors.initials: DG
authors.lastname: Stathakis
authors.forename: K B
authors.initials: KB
authors.lastname: Hoover
authors.forename: Z
authors.initials: Z
authors.lastname: You
authors.forename: P J
authors.initials: PJ
authors.lastname: Bryant
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000595:Amino Acid Sequence; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003001:Cloning, Molecular; D017931:DNA Primers; D000074288:Discs Large Homolog 1 Protein; D000076122:Disks Large Homolog 4 Protein; D051528:Guanylate Kinases; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D009703:Nucleoside-Phosphate Kinase / Q000235:genetics; D015418:Optic Atrophies, Hereditary / Q000235:genetics; D009928:Organ Specificity; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D012313:RNA / Q000235:genetics / Q000378:metabolism; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic / Q000235:genetics; D018909:src Homology Domains / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C513314:DLG1 protein, human; C501444:DLG4 protein, human; D017931:DNA Primers; D000074288:Discs Large Homolog 1 Protein; D000076122:Disks Large Homolog 4 Protein; C501449:Dlg4 protein, rat; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D011506:Proteins; C033652:postsynaptic density proteins; D012313:RNA; D009703:Nucleoside-Phosphate Kinase; D051528:Guanylate Kinases