GOT1L1

protein-coding

glutamic-oxaloacetic transaminase 1 like 1

Gene summary

Predicted to enable L-aspartate:2-oxoglutarate transaminase activity. Predicted to be involved in L-aspartate biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_152413.3

Inheritance

—

ClinVar variants

U:58B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.84

Max pathogenic AF

—

Genomic locus

chr8:37,934,281-37,940,124

External References & Databases

Ensembl (ENSG00000169154)

Transcript & Mutation Effects

hg38 • Region Span ~5.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GOT1L1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 60

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152413.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			58 clinvar	2 clinvar		60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	3	0	61

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152413.3	RefSeq	NP_689626.2	9	MANE Select
ENST00000307599.5	Ensembl	ENSP00000303077.4	9	MANE Select
ENST00000518826.3	Ensembl	ENSP00000429558.2	3	Standard
ENST00000524298.1	Ensembl	ENSP00000430453.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Valproic Acid Pathway, Pharmacodynamics
Pathway_PA165964473
malate-aspartate shuttle
asparagine biosynthesis
aspartate biosynthesis

Biological Process

aspartate biosynthetic process

Molecular Function

L-aspartate:2-oxoglutarate aminotransferase activity
pyridoxal phosphate binding

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000307599
Coding exons: 9
Length: 5849
Individuals with no LoFs: 124436
Homozygous LoFs: 0
Heterozygous LoFs: 207
Defined: 124643
p: 0.000831

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0417	221	219	1.01	0.0000105	2760
Missense (PolyPhen)		72	71.851	1.0021		967
Synonymous	0.342	79	83.0	0.952	0.00000422	785
Loss of Function	0.641	16	19.0	0.841	8.51e-7	229

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0014	0.0014	notable
Latino/Admixed American	0.00093	0.00093	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0036	0.0035	notable
Finnish	0.000050	0.000046	rare
European (Non-Finnish)	0.00019	0.00018	rare
South Asian	0.0024	0.0022	notable
Other	0.00052	0.00050	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.578
RVIS EVS: -0.2
RVIS percentile EVS: 39.11

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00730

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium