PITHD1 Gene Summary [Human]
Involved in positive regulation of megakaryocyte differentiation and positive regulation of transcription, DNA-templated. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | PITHD1 |
| Official Name | PITH domain containing 1 [Source:HGNC Symbol;Acc:HGNC:25022] |
| Ensembl ID | ENSG00000057757 |
| Bio databases IDs | |
| Aliases | PITH domain containing 1, TXNL1 C-terminal like |
| Synonyms | 1110049F12Rik, C1orf128, HT014, PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1, PITH domain containing 1, RGD1308048, Trp26, TXNL1CL |
| 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 PITHD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PITH domain
- 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
- neoplasia
- metastasis
- colorectal cancer
- glioma
- glioma formation
- androgenic alopecia
regulated by
- cocaine
- myoblasts
- mir-590
role in cell
- production in
- expression in
- proliferation
- migration
- morphology
- differentiation
- motility
- development
- penetration
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
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PITHD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of proteasomal protein catabolic process
- positive regulation of transcription, DNA-dependent
- spermatid development
- penetration of zona pellucida
- positive regulation of megakaryocyte differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm