TPRN Gene Summary [Human]
This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]
Details
| Type | Protein Coding |
| Official Symbol | TPRN |
| Official Name | taperin [Source:HGNC Symbol;Acc:HGNC:26894] |
| Ensembl ID | ENSG00000176058 |
| Bio databases IDs | |
| Aliases | taperin |
| Synonyms | C430004E15Rik, C9orf75, DFNB79, FLJ90254, taperin |
| 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 TPRN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein phosphatase 1 binding
- type 1 serine/threonine specific protein phosphatase inhibitor
- Phostensin PP1-binding and SH3-binding region
- actin binding
- protein phosphatase binding
- PP1-regulatory protein, Phostensin N-terminal
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ear malformation
- autosomal recessive deafness type 79
- familial nonsyndromic hearing impairment
- colon carcinoma
- colon epithelial cancer
- cutaneous melanoma
- cutaneous melanoma cancer
- autosomal recessive deafness
regulated by
role in cell
- maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- cytosol
- stereocilia
- nucleoplasm
- microvilli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TPRN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- auditory receptor cell stereocilium organization
- sensory perception of sound
Cellular Component
Where in the cell the gene product is active
- microvillus
- cytoplasm
- stereocilium
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein serine/threonine phosphatase inhibitor activity
- protein binding
- actin binding
- protein phosphatase 1 binding