PDCD6IP Gene Summary [Human]

This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]

Details

Type
Protein Coding
Official Symbol
PDCD6IP
Official Name
programmed cell death 6 interacting protein [Source:HGNC Symbol;Acc:HGNC:8766]
Ensembl ID
ENSG00000170248
Bio databases IDs NCBI: 10015 Ensembl: ENSG00000170248
Aliases programmed cell death 6 interacting protein, ALG-2 interacting protein X
Synonyms AIP, AIP1, ALIX, DRIP4, Eig2, HP95, MCPH29, mKIAA1375, programmed cell death 6 interacting protein, RGD1561176
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 PDCD6IP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Tsg101 binding domain
  • protein dimerization
  • PXY motif
  • Protein-interacting V-domain of mammalian Alix and related domains
  • calcium-dependent protein binding
  • BRO1/Rhophilin-like domain
  • ALIX V-shaped domain binding to HIV
  • polar amino acid rich domain
  • G-protein-coupled receptor binding
  • coiled-coil domain
  • PSAP motif
  • protein binding
  • V domain
  • identical protein binding
  • proline rich domain
  • SH3-domain binding
  • Protein-interacting Bro1-like domain of mammalian Alix and related domains
  • BRO1-like domain
  • GPP motif
  • protein homodimerization
  • endophilin binding domain
  • CIN85-binding motif
  • CHMP4b binding site

Pathways

Biological processes and signaling networks where the PDCD6IP gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal recessive primary microcephaly type 29
  • hydrocephalus
  • astrocytosis
  • renal cancer
  • infection by HIV-1
regulated by
regulates
role in cell
  • expression in
  • apoptosis
  • binding in
  • production in
  • replication in
  • morphology
  • cell death
  • degradation in
  • formation
  • accumulation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • myelin enriched fraction
  • membrane fraction
  • detergent resistant lipid raft fraction
  • cell surface
  • cell periphery
  • perinuclear region
  • cellular membrane
  • actin cytoskeleton
  • Plasma Membrane
  • endosomes
  • vesicles
  • centrosome
  • Endoplasmic Reticulum
  • midbody
  • immunological synapses
  • Flemming body
  • cytosol
  • neurites
  • late endosomes
  • multivesicular bodies
  • filopodia
  • perikaryon
  • exosomes
  • phagosomes
  • lamellipodia
  • cytoskeletal fraction
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PDCD6IP gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cytokinesis, actomyosin contractile ring assembly
  • protein transport
  • protein homooligomerization
  • non-lytic virus budding
  • nucleus organization
  • maintenance of epithelial cell apical/basal polarity
  • regulation of centrosome duplication
  • cytokinesis after mitosis
  • apoptotic process
  • tight junction assembly
  • multivesicular body sorting pathway
  • mitotic metaphase plate congression
  • macroautophagy

Cellular Component

Where in the cell the gene product is active
  • tight junction
  • centrosome
  • extracellular vesicular exosome
  • endosome
  • focal adhesion
  • melanosome
  • membrane
  • cytosol
  • endoplasmic reticulum exit site
  • actomyosin
  • immunological synapse

Molecular Function

What the gene product does at the molecular level
  • protein homodimerization activity
  • protein binding
  • proteinase activated receptor binding
  • calcium-dependent protein binding

Gene-Specific Assays for Results You Can Trust

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