HINT1 Gene Summary [Human]
This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | HINT1 |
| Official Name | histidine triad nucleotide binding protein 1 [Source:HGNC Symbol;Acc:HGNC:4912] |
| Ensembl ID | ENSG00000169567 |
| Bio databases IDs | |
| Aliases | histidine triad nucleotide binding protein 1 |
| Synonyms | HINT, Histidine triad nucleotide-binding, Histidine triad nucleotide-binding prot., histidine triad nucleotide binding protein 1, Ipk1, Mpkci, NMAN, Pkci, PKCI-1, Pkc ι, Prkci, PRKCNH1 |
| 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 HINT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SUMO-specific protease
- linear amide carbon-nitrogen bond hydrolase
- protein kinase C binding
- enzyme
- protein binding
- hydrolase
- Scavenger mRNA decapping enzyme C-term binding
- HIT_like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- schizophrenia
- papillomatosis
- epithelial neoplasia
- benign neoplasia
- cancer
- adenoma formation
- epithelial cancer
- hereditary disorder
- autosomal recessive neuromyotonia and axonal neuropathy
role in cell
- proliferation
- quantity
- cell death
- survival
- expression in
- morphology
- apoptosis
- growth
- sensitivity
- immortalization
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
- nuclear fraction
- cytoskeleton
- Cytoplasm
- Plasma Membrane
- cytosol
- nucleoplasm
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HINT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of calcium-mediated signaling
- signal transduction
- purine ribonucleotide catabolic process
- signal transduction by p53 class mediator resulting in induction of apoptosis
- protein desumoylation
- proteolysis
- regulation of transcription, DNA-dependent
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- cytoskeleton
- cytoplasm
- histone deacetylase complex
- cytosol
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase C binding
- nucleotide binding
- protein binding
- adenosine 5'-monophosphoramidase activity
- SUMO-specific protease activity
- hydrolase activity