PHIP Gene Summary [Human]
This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | PHIP |
| Official Name | pleckstrin homology domain interacting protein [Source:HGNC Symbol;Acc:HGNC:15673] |
| Ensembl ID | ENSG00000146247 |
| Bio databases IDs | |
| Aliases | pleckstrin homology domain interacting protein, DDB1 and CUL4 associated factor 14 |
| Synonyms | 2810004D21RIK, 4632404O06Rik, BRWD2, CHUJANS, DCAF14, DIDOD, Ndrp, PHIP1, pleckstrin homology domain interacting protein, RepID, RGD1564964, WDR11 |
| Species | Human, Homo sapiens |
| Orthologies |
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 PHIP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- pleckstrin Homology binding region
- histone binding
- WD40 repeats
- WD domain, G-beta repeat
- WD40
- protein binding
- Bromodomain
- zDHHC ankyrin repeat binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- neoplasia
- developmental delay, dysmorphic features, intellectual disability and obesity
- mental retardation
- hereditary disorder
- Sjögren syndrome
- cancer
- melanoma cancer
- heart failure
- glioblastoma cancer
role in cell
- expression in
- migration
- proliferation
- apoptosis
- phosphorylation in
- mitosis
- morphogenesis
- dynamics
- motility
- reorganization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cell membrane leading edge
- force transduction layer
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHIP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell shape
- regulation of cell morphogenesis
- cytoskeleton organization
- insulin receptor signaling pathway
- positive regulation of cell proliferation
- positive regulation of mitosis
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- positive regulation of insulin-like growth factor receptor signaling pathway
- positive regulation of transcription, DNA-dependent
- regulation of protein phosphorylation
- negative regulation of apoptotic process
- negative regulation of extrinsic apoptotic signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- protein binding
- histone acetyl-lysine binding
- insulin receptor binding