GOT1L1 Gene (Glutamic-Oxaloacetic Transaminase 1 Like 1)
Comprehensive genomic and functional overview of GOT1L1, a putative transaminase with limited functional characterization.
Gene Information Card
| Symbol | GOT1L1 |
|---|---|
| Full Name | Glutamic-Oxaloacetic Transaminase 1 Like 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 137362 ncbi.nlm.nih.gov/gene/137362 |
| Ensembl ID | ENSG00000184502 |
| UniProt ID | Q8N9J2 |
| OMIM ID | 616461 |
| HGNC ID | 26259 |
| Aliases | FLJ22624, MGC131911 |
Description
GOT1L1 (Glutamic-Oxaloacetic Transaminase 1 Like 1) is a protein-coding gene located on chromosome 8p11.23. It encodes a predicted transaminase enzyme with sequence similarity to GOT1. The precise biological function of GOT1L1 remains incompletely characterized, but it is thought to be involved in amino acid metabolism. Expression data indicate low to moderate levels in select tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not applicable | No evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 1.5 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| K562 | 0.3 | Low expression |
| HeLa | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Synonymous | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No evidence
Gain of Function (GOF)
No evidence
Dominant Negative (DN)
No evidence
View complete mutation data：
Gene Ontology (GO)
| • transaminase activity (GO:0008483) | • cellular amino acid metabolic process (GO:0006520) |
Pathways
• Not assigned to any curated pathway
Protein Summary
The GOT1L1 protein (UniProt Q8N9J2) is a predicted cytosolic transaminase of 430 amino acids. It shares structural homology with aspartate aminotransferase (GOT1) but its enzymatic activity and physiological substrates have not been experimentally confirmed. No disease-associated variants have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOT1L1 Knockout HEK293 Cell Line | EDJ-KQ9389 | Human | 137362 | Details Get a Quote |
| GOT1L1 Knockout HeLa Cell Line | EDJ-KQ58372 | Human | 137362 | Details Get a Quote |
| GOT1L1 Knockout A-549 Cell Line | EDJ-KQ66860 | Human | 137362 | Details Get a Quote |
| GOT1L1 Knockout HCT 116 Cell Line | EDJ-KQ75263 | Human | 137362 | Details Get a Quote |
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