PINX1 Gene Summary [Human]
Enables telomerase RNA binding activity and telomerase inhibitor activity. Involved in several processes, including negative regulation of DNA biosynthetic process; positive regulation of protein localization to nucleolus; and protein localization to organelle. Acts upstream of or within telomere maintenance via telomerase. Located in several cellular components, including chromosomal region; nuclear lumen; and spindle. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | PINX1 |
| Official Name | PIN2 (TERF1) interacting telomerase inhibitor 1 [Source:HGNC Symbol;Acc:HGNC:30046] |
| Ensembl ID | ENSG00000254093 |
| Bio databases IDs | |
| Aliases | PIN2 (TERF1) interacting telomerase inhibitor 1, PIN2 interacting protein 1, liver-related putative tumor suppressor |
| Synonyms | 2210403I16Rik, 2610028A01Rik, 67-11-3, AC270290.1, CTD-2135J3.4, ENSG00000292296, Gno1, LPTL, LPTS, LPTS1, PIN2 (TERF1) interacting telomerase inhibitor 1, PIN2/TERF1 interacting, telomerase inhibitor 1, Pxr1, RGD1566025 |
| 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 PINX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-patch domain
- binding protein
- enzyme inhibitor activity
- telomerase inhibitory domain
- protein binding
- RNA binding
Pathways
Biological processes and signaling networks where the PINX1 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
- epithelial cancer
- epithelial neoplasia
- cancer
- gastrointestinal neoplasia
- digestive system cancer
- non-insulin-dependent diabetes mellitus
- metabolic syndrome X
- atherosclerosis
- systemic lupus erythematosus
- tumorigenesis
role in cell
- activation in
- degradation in
- binding
- binding in
- DNA damage response
- accumulation in
- ubiquitination in
- stabilization in
- processing in
- length
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
- spindle apparatus
- Mitochondria
- chromosome
- nucleoplasm
- nucleoli
- kinetochores
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PINX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of telomerase activity
- regulation of protein stability
- negative regulation of cell proliferation
- protein localization to chromosome, telomeric region
- telomere maintenance via telomerase
- negative regulation of telomere maintenance via telomerase
- negative regulation of protein ubiquitination
- mitotic metaphase plate congression
- negative regulation of telomerase activity
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- mitochondrion
- spindle
- nuclear chromosome
- kinetochore
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- telomeric RNA binding
- telomerase inhibitor activity