PDZD8 Gene Summary [Human]

Predicted to enable lipid binding activity and metal ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
PDZD8
Official Name
PDZ domain containing 8 [Source:HGNC Symbol;Acc:HGNC:26974]
Ensembl ID
ENSG00000165650
Bio databases IDs NCBI: 118987 Ensembl: ENSG00000165650
Aliases PDZ domain containing 8
Synonyms A630041P07Rik, IDDADF, PDZ domain containing 8, PDZK8
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PDZD8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Domain present in PSD-95, Dlg, and ZO-1/2
  • protein kinase C conserved region 1 (C1 domain) superfamily
  • canonical PDZ domain
  • coiled-coil domain
  • protein binding
  • PDZ domain
  • synaptotagmin-like mitochondrial-lipid-binding protein (SMP) domain superfamily

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • intellectual developmental disorder with autism and dysmorphic facies
  • infection by HIV-1
regulates
  • CD8 (family)
role in cell
  • Clathrin mediated endocytosis by
  • reverse transcription in
  • morphogenesis
  • organization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • endoplasmic reticulum mitochondria contact site
  • endoplasmic reticulum membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PDZD8 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • lipid transport
  • regulation of cell morphogenesis
  • cytoskeleton organization
  • mitochondrial calcium ion homeostasis

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • mitochondrion
  • membrane
  • ER-mitochondrion membrane contact site

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • metal ion binding
  • lipid binding

Gene-Specific Assays for Results You Can Trust

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