HIP1 Gene Summary [Human]
The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | HIP1 |
| Official Name | huntingtin interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:4913] |
| Ensembl ID | ENSG00000127946 |
| Bio databases IDs | |
| Aliases | huntingtin interacting protein 1 |
| Synonyms | 2610109B09Rik, A930014B11Rik, E130315I21Rik, HIP-I, huntingtin interacting protein 1, ILWEQ, mKIAA4113, SHON, SHONbeta, SHONgamma |
| 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 HIP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FxDxF motif
- talin homology region
- Ciliary protein causing Leber congenital amaurosis disease
- DP[F/W] motif
- clathrin binding
- coiled-coil domain
- leucine zipper domain
- Type III secretion protein YscO
- Tropomyosin
- structural constituent of cytoskeleton
- death effector domain-like
- VHS, ENTH and ANTH domain superfamily
- ENTH domain
- TPR/MLP1/MLP2-like protein
- Ezrin/radixin/moesin, alpha-helical domain
- epidermal growth factor receptor binding
- clathrin box motif
- Clathrin-binding domain of Huntingtin-interacting protein 1
- protein binding
- receptor binding
- phosphatidylinositol binding
- actin filament binding
- clathrin light-chain-binding site
- Mechanosensitive ion channel porin domain
- binding protein
- I/LWEQ domain
- Transforming acidic coiled-coil-containing protein (TACC), C-terminal
- protein homodimerization
- Intermediate filament protein
- protein heterodimerization
- DPF domain
Pathways
Biological processes and signaling networks where the HIP1 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
- B-cell lymphoma
- diffuse large B-cell lymphoma
- neoplasia
- systemic lupus erythematosus
- kyphosis
- COVID-19
- alcoholism
- mantle cell lymphoma
- tumorigenesis
- acute myeloid leukemia
role in cell
- cell viability
- apoptosis
- growth
- cell death
- formation
- formation in
- function
- assembly
- abnormal morphology
- fragmentation
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
- interchromatin granule cluster fractions
- glutaminergic synapse
- intracellular membrane-bounded organelle
- cytoskeleton
- presynaptic regions
- somatodendritic region
- perinuclear region
- postsynaptic region
- membrane surface
- cellular membrane
- Nucleus
- Plasma Membrane
- Golgi Apparatus
- cytosol
- presynaptic membrane
- postsynaptic membrane
- perinuclear space
- synapse
- cytoplasmic vesicles
- endocytotic vesicle
- perikaryon
- dendrites
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HIP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of epidermal growth factor receptor signaling pathway
- actin filament organization
- apoptotic signaling pathway
- regulation of apoptotic process
- endocytosis
- clathrin coat assembly
- apoptotic process
- cell differentiation
- 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
- positive regulation of receptor-mediated endocytosis
- positive regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- Golgi apparatus
- nucleus
- cytoskeleton
- postsynaptic membrane
- cytoplasm
- intracellular membrane-bounded organelle
- membrane
- cytosol
- clathrin-coated vesicle
- cortical actin cytoskeleton
- clathrin coated vesicle membrane
Molecular Function
What the gene product does at the molecular level
- clathrin light chain binding
- glutamate receptor binding
- protein homodimerization activity
- epidermal growth factor receptor binding
- phosphatidylinositol binding
- phosphatidylinositol-3,5-bisphosphate binding
- structural constituent of cytoskeleton
- phosphatidylinositol-3,4-bisphosphate binding
- actin filament binding
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding
- protein heterodimerization activity
- clathrin adaptor activity
- phosphatidylinositol-3-phosphate binding
- clathrin binding
- AP-2 adaptor complex binding