PSAT1 Gene Summary [Human]
This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | PSAT1 |
| Official Name | phosphoserine aminotransferase 1 [Source:HGNC Symbol;Acc:HGNC:19129] |
| Ensembl ID | ENSG00000135069 |
| Bio databases IDs | |
| Aliases | phosphoserine aminotransferase 1, phosphoserine transaminase |
| Synonyms | D8Ertd814e, EPIP, NLS2, Phosphoserine Aminotransferase, phosphoserine aminotransferase 1, PSA, PSA1, PSAT, PSATD, Similar to phosphoserine aminotransferase |
| 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 PSAT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Aminotransferase class-V
- phosphoserine transaminase
- AAT_I
- enzyme
- protein binding
- identical 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
- Neu-Laxova syndrome type 2
- lung adenocarcinoma
- lung adenocarcinoma formation
- non-small cell lung cancer
- lung cancer
- prostate cancer
- organismal death
role in cell
- phosphorylation in
- apoptosis
- cellular infiltration by
- expression in
- proliferation
- accumulation in
- migration
- invasiveness
- biosynthesis in
- erlotinib sensitivity
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PSAT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pyridoxine biosynthetic process
- L-serine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- pyridoxal phosphate binding
- identical protein binding
- protein binding
- O-phospho-L-serine:2-oxoglutarate aminotransferase activity