HIP1R Gene Summary [Human]
Enables several functions, including phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and protein homodimerization activity. Involved in several processes, including positive regulation of signal transduction; protein stabilization; and regulation of organelle organization. Located in clathrin-coated vesicle; cytosol; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | HIP1R |
| Official Name | huntingtin interacting protein 1 related [Source:HGNC Symbol;Acc:HGNC:18415] |
| Ensembl ID | ENSG00000130787 |
| Bio databases IDs | |
| Aliases | huntingtin interacting protein 1 related |
| Synonyms | HIP12, HIP3, Huntingtin Interacting Protein 12, huntingtin interacting protein 1 related, ILWEQ, mKIAA0655 |
| 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 HIP1R often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Autophagy protein 16 (ATG16)
- talin homology region
- THATCH core domain
- Synaptonemal complex protein 1 (SCP-1)
- protein binding activity, bridging
- clathrin binding
- coiled-coil domain
- leucine zipper domain
- Golgin subfamily A member 5
- identical protein binding
- Laminin Domain I
- phosphatidylinositol-3,4,5-triphosphate binding
- actin binding
- phosphatidylinositol-4,5-bisphosphate binding
- VHS, ENTH and ANTH domain superfamily
- ENTH domain
- SPEC
- Crescentin protein
- PspA/IM30 family
- Hyaluronan mediated motility receptor N-terminal
- alpha helix
- Clathrin-binding domain of Huntingtin-interacting protein 1
- protein binding
- phosphatidylinositol binding
- SH3-domain binding
- actin filament binding
- Mechanosensitive ion channel porin domain
- binding protein
- I/LWEQ domain
- Trichohyalin-plectin-homology domain
- protein homodimerization
- Intermediate filament protein
- protein heterodimerization
Pathways
Biological processes and signaling networks where the HIP1R 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
- cervical cancer
- insomnia
- kyphosis
- Alzheimer disease
- atrial fibrillation
- Parkinson disease
- schizophrenia
- androgenic alopecia
- dwarfism
- cervical small cell carcinoma
role in cell
- apoptosis
- assembly
- misalignment
- disruption
- endocytosis by
- organization
- trafficking
- polymerization
- association
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
- membrane fraction
- glutaminergic synapse
- intracellular membrane-bounded organelle
- cytoskeleton
- cell periphery
- perinuclear region
- postsynaptic region
- cellular membrane
- cell cortex
- Plasma Membrane
- vesicles
- Mitochondria
- cytosol
- membrane ruffles
- apical membrane
- synaptic membrane
- dendritic spines
- clathrin-coated pits
- cell membrane leading edge
- perikaryon
- dendrites
- postsynaptic density
- clathrin-coated vesicles
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HIP1R gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of protein binding
- regulation of gastric acid secretion
- positive regulation of epidermal growth factor receptor signaling pathway
- actin filament organization
- endocytosis
- receptor-mediated endocytosis
- regulation of actin cytoskeleton organization
- negative regulation of actin filament polymerization
- clathrin coat assembly
- negative regulation of apoptotic process
- positive regulation of apoptotic process
- digestive system development
- positive regulation of platelet-derived growth factor receptor-beta signaling pathway
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- regulation of endocytosis
- protein stabilization
- regulation of clathrin-mediated endocytosis
- negative regulation of Arp2/3 complex-mediated actin nucleation
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- neuronal cell body
- synaptic membrane
- plasma membrane
- perinuclear region of cytoplasm
- coated pit
- intracellular membrane-bounded organelle
- mitochondrion
- dendrite cytoplasm
- dendritic spine
- ruffle membrane
- cytosol
- clathrin-coated vesicle
- apical plasma membrane
- cortical actin cytoskeleton
- clathrin coated vesicle membrane
Molecular Function
What the gene product does at the molecular level
- clathrin light chain binding
- identical protein binding
- protein homodimerization activity
- phosphatidylinositol binding
- phosphatidylinositol-3,5-bisphosphate binding
- phosphatidylinositol-3,4-bisphosphate binding
- phosphatidylinositol-3,4,5-trisphosphate binding
- actin filament binding
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding
- protein heterodimerization activity
- clathrin adaptor activity
- clathrin binding
- SH3 domain binding