GOT1

Chr 10

glutamic-oxaloacetic transaminase 1

Also known as: AST, AST1, ASTQTL1, GIG18, SGOT, cAspAT, cCAT

NCBI Gene: 2805ENSG00000120053UniProt: P17174

Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
113
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.68
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.001
Z-score 2.73
OE 0.39 (0.23–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.95Z-score
OE missense 0.65 (0.57–0.74)
158 obs / 243.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.23–0.68)
0≤0.351.4
Missense OE?0.65 (0.57–0.74)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 9 / 23.2Missense obs/exp: 158 / 243.6Syn Z: 0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GOT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients