GOT1L1

Summary

GOT1L1 (glutamic-oxaloacetic transaminase 1 like 1, HGNC:28487) is a protein-coding gene on chromosome 8p11.23, encoding Putative aspartate aminotransferase, cytoplasmic 2 (Q8NHS2).

Predicted to enable L-aspartate:2-oxoglutarate aminotransferase activity. Predicted to be involved in aspartate biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol.

Source: NCBI Gene 137362 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 64 total — 1 pathogenic
• MANE Select transcript: NM_152413

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28487
Approved symbol	GOT1L1
Name	glutamic-oxaloacetic transaminase 1 like 1
Location	8p11.23
Locus type	gene with protein product
Status	Approved
Aliases	MGC33309
Ensembl gene	ENSG00000169154
Ensembl biotype	protein_coding
Entrez	137362

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000307599, ENST00000518826, ENST00000524298

RefSeq mRNA: 1 — MANE Select: NM_152413 NM_152413

CCDS: CCDS47839

Canonical transcript exons

ENST00000307599 — 9 exons

Exon	Start	End
ENSE00001156255	37934281	37934486
ENSE00001236543	37936720	37936870
ENSE00001312232	37935073	37935215
ENSE00001328256	37939915	37940124
ENSE00001670537	37937277	37937386
ENSE00001725479	37938700	37938881
ENSE00001804938	37936965	37937057
ENSE00003458612	37935704	37935869
ENSE00003788971	37937638	37937749

Expression profiles

Bgee: expression breadth broad, 42 present calls, max score 85.22.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0050 / max 4.5108, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
92719	0.0050	3

Top tissues by expression

107 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.22	silver quality
left testis	UBERON:0004533	79.05	gold quality
testis	UBERON:0000473	78.57	gold quality
right testis	UBERON:0004534	77.92	gold quality
right ovary	UBERON:0002118	53.28	gold quality
ovary	UBERON:0000992	51.65	gold quality
left ovary	UBERON:0002119	50.42	gold quality
left uterine tube	UBERON:0001303	44.62	gold quality
urinary bladder	UBERON:0001255	44.32	gold quality
lower esophagus muscularis layer	UBERON:0035833	43.48	gold quality
lower esophagus	UBERON:0013473	43.44	gold quality
sural nerve	UBERON:0015488	41.57	gold quality
gall bladder	UBERON:0002110	38.63	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	37.49	gold quality
fundus of stomach	UBERON:0001160	37.44	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
skeletal muscle tissue	UBERON:0001134	36.13	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
placenta	UBERON:0001987	34.92	gold quality
muscle tissue	UBERON:0002385	34.26	gold quality
right uterine tube	UBERON:0001302	34.03	gold quality
esophagus	UBERON:0001043	32.88	gold quality
muscle layer of sigmoid colon	UBERON:0035805	32.58	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
fallopian tube	UBERON:0003889	31.56	gold quality
monocyte	CL:0000576	31.52	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.78

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• Neither human hexokinase-1 nor human inorganic pyrophosphatase expression segregated concordantly with human cytoplasmic glutamic-oxaloacetic transaminase expression. (PMID:17494625)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• The rat and human homologs of mouse GOT1L1 are not involved in D-aspartate biosynthesis. (PMID:25646960)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	got1l1	ENSDARG00000053644
mus_musculus	Got1l1	ENSMUSG00000039720
rattus_norvegicus	Got1l1	ENSRNOG00000038473
drosophila_melanogaster	Got1	FBGN0001124
caenorhabditis_elegans		WBGENE00020146

Paralogs (2): GOT1 (ENSG00000120053), GOT2 (ENSG00000125166)

Protein

Protein identifiers

Putative aspartate aminotransferase, cytoplasmic 2 — Q8NHS2 (reviewed: Q8NHS2)

Alternative names: Glutamate oxaloacetate transaminase 1-like protein 1, Transaminase A-like protein 1

All UniProt accessions (3): Q8NHS2, E5RI59, E5RJX9

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Homodimer.

Subcellular location. Cytoplasm.

Miscellaneous. In eukaryotes there are cytoplasmic, mitochondrial and chloroplastic isozymes.

Similarity. Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.

RefSeq proteins (1): NP_689626* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000796	Asp_trans	Family
IPR004839	Aminotransferase_I/II_large	Domain
IPR015421	PyrdxlP-dep_Trfase_major	Homologous_superfamily
IPR015422	PyrdxlP-dep_Trfase_small	Homologous_superfamily
IPR015424	PyrdxlP-dep_Trfase	Homologous_superfamily

Pfam: PF00155

Enzyme classification (BRENDA):

• EC 2.6.1.1 — aspartate transaminase (BRENDA: 87 organisms, 168 substrates, 157 inhibitors, 242 Km, 72 kcat entries)

Substrate kinetics (BRENDA)

24 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
L-ASPARTATE	0.039–37	67
2-OXOGLUTARATE	0.007–6.9	66
OXALOACETATE	0.01–2.45	32
L-GLUTAMATE	0.5–37	31
L-PHENYLALANINE	1.1–6.6	3
L-TRYPTOPHAN	2.3–5	3
L-TYROSINE	1.43–1.6	3
2-METHOXYPHENYLPYRUVATE	5.84–12.07	2
2-OXO-4-PHENYL-BUTANOIC ACID	0.77–0.86	2
3,4-DIMETHOXYPHENYLPYRUVATE	1.01–10.32	2
3-METHOXYPHENYLPYRUVATE	4.92–11.56	2
4-METHOXYPHENYLPYRUVATE	4.12–10.14	2
L-2-AMINO-4-METHOXY-4-OXOBUTANOIC ACID	4.1–20.3	2
L-ALANINE	3.5–140	2
L-CYSTEINE	8.57–20.62	2

Catalyzed reactions (Rhea), 1 shown:

• L-aspartate + 2-oxoglutarate = oxaloacetate + L-glutamate (RHEA:21824)

UniProt features (3 total): chain 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NHS2-F1	91.97	0.86

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 249

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 53 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_AMINO_ACID_BIOSYNTHETIC_PROCESS, GOBP_ASPARTATE_FAMILY_AMINO_ACID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_DICARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_DICARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_ASPARTATE_METABOLIC_PROCESS, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_NITROGENOUS_GROUPS, GOMF_VITAMIN_BINDING, HSF2_01, HSF1_01, RAO_BOUND_BY_SALL4_ISOFORM_B

GO Biological Process (3): L-aspartate biosynthetic process (GO:0006532), amino acid metabolic process (GO:0006520), biosynthetic process (GO:0009058)

GO Molecular Function (4): L-aspartate:2-oxoglutarate transaminase activity (GO:0004069), pyridoxal phosphate binding (GO:0030170), transaminase activity (GO:0008483), transferase activity (GO:0016740)

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
aspartate metabolic process	1
aspartate family amino acid biosynthetic process	1
dicarboxylic acid biosynthetic process	1
primary metabolic process	1
metabolic process	1
amino acid transaminase activity	1
anion binding	1
vitamin B6 binding	1
transferase activity, transferring nitrogenous groups	1
catalytic activity	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1564 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOT1L1	LDHAL6A	Q6ZMR3	754
GOT1L1	LDHAL6B	Q9BYZ2	754
GOT1L1	ALPG	P10696	740
GOT1L1	GPT	P24298	739
GOT1L1	LDHC	P07864	733
GOT1L1	GGT6	Q6P531	733
GOT1L1	GGT7	Q9UJ14	710
GOT1L1	GPT2	Q8TD30	683
GOT1L1	GGT2P	P36268	670
GOT1L1	ALPI	P09923	660
GOT1L1	ALPP	P05187	658
GOT1L1	GGT5	P36269	650
GOT1L1	GGT1	P19440	624
GOT1L1	CKMT1B	P12532	619
GOT1L1	CKMT2	P17540	618

IntAct

127 interactions, top by confidence:

A	B	Type	Score
GOT1L1	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	FRMPD4	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	GIPC2	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	PCLO	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	CASK	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	TJP2	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	MAGI1	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	TJP3	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	FRMPD2	psi-mi:“MI:0407”(direct interaction)	0.440
GOT1L1	AHNAK	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (8): SERPINA1 (Affinity Capture-MS), APOA1 (Affinity Capture-MS), GOT1 (Affinity Capture-MS), APOA1 (Affinity Capture-MS), SERPINA1 (Affinity Capture-MS), GOT1 (Affinity Capture-MS), GOT1L1 (Affinity Capture-MS), GOT1L1 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LIF8, A0A2P1BRP3, A0JN92, A1A4Y4, B1ARD8, G1SRW8, P0C7P3, P0DMR5, P27473, P59045, P86448, P86449, Q08AF3, Q0E2Q3, Q0GUM3, Q2T9S8, Q32KW9, Q3T9E4, Q3TL54, Q53G44, Q5NCI0, Q5RFJ8, Q5U311, Q60766, Q62293, Q66X01, Q66X03, Q66X22, Q6AYC2, Q6AYF9, Q6NXR0, Q7L775, Q7TSV6, Q84WJ0, Q8BV66, Q8BZS9, Q8C6J9, Q8CBA2, Q8NHS2, Q8TCB0

Diamond homologs: A0A0C1E1D0, A5A6K8, O42652, O85746, O94320, P00503, P00504, P00505, P00506, P00507, P00508, P00509, P04693, P05201, P05202, P08906, P08907, P12343, P12344, P12345, P13221, P17174, P23542, P26563, P28011, P28734, P33097, P37833, P43336, P44425, P46248, P46643, P46644, P46645, P46646, P58661, P72173, P74861, P95468, Q01802

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 80 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	54.9×	1e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	52.3×	1e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	52.3×	1e-06
Assembly and cell surface presentation of NMDA receptors	10	48.8×	5e-13
Dopamine Neurotransmitter Release Cycle	5	47.7×	2e-06
Long-term potentiation	5	45.8×	2e-06
Neurexins and neuroligins	11	41.6×	2e-13
Protein-protein interactions at synapses	7	35.8×	6e-08

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	83.0×	1e-16
protein localization to synapse	6	59.7×	6e-08
receptor clustering	7	56.7×	6e-09
regulation of postsynaptic membrane neurotransmitter receptor levels	7	45.1×	2e-08
cell-cell adhesion	10	13.2×	3e-07
protein-containing complex assembly	8	11.8×	2e-05
chemical synaptic transmission	7	7.0×	1e-03
protein transport	8	4.6×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

64 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	57
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2579179	GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1	Pathogenic

SpliceAI

1735 predictions. Top by Δscore:

Variant	Effect	Δscore
8:37935063:AGAC:A	donor_gain	1.0000
8:37935214:TCCT:T	acceptor_loss	1.0000
8:37935220:C:CT	acceptor_gain	1.0000
8:37935220:C:T	acceptor_gain	1.0000
8:37935221:A:T	acceptor_gain	1.0000
8:37936766:AAAG:A	donor_gain	1.0000
8:37935071:A:AC	donor_gain	0.9900
8:37935072:C:CC	donor_gain	0.9900
8:37935212:CTTC:C	acceptor_gain	0.9900
8:37935216:C:CC	acceptor_gain	0.9900
8:37935703:CCATT:C	donor_gain	0.9900
8:37935875:G:GC	acceptor_gain	0.9900
8:37936869:CT:C	acceptor_gain	0.9900
8:37939950:T:C	donor_gain	0.9900
8:37935214:TC:T	acceptor_gain	0.9800
8:37935215:CC:C	acceptor_gain	0.9800
8:37935698:CCTTA:C	donor_loss	0.9800
8:37935699:CTTA:C	donor_loss	0.9800
8:37935700:TTA:T	donor_loss	0.9800
8:37935702:A:AA	donor_loss	0.9800
8:37935703:C:CT	donor_loss	0.9800
8:37935870:C:CC	acceptor_gain	0.9800
8:37936766:AAAGC:A	donor_gain	0.9800
8:37936803:T:C	donor_gain	0.9800
8:37936809:T:TA	donor_gain	0.9800
8:37936870:TCTGT:T	acceptor_loss	0.9800
8:37936871:C:CC	acceptor_gain	0.9800
8:37936871:C:T	acceptor_loss	0.9800
8:37936872:T:A	acceptor_loss	0.9800
8:37937278:TCC:T	donor_gain	0.9800

AlphaMissense

2784 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:37935124:A:G	W341R	0.963
8:37935124:A:T	W341R	0.963
8:37935705:A:G	W310R	0.961
8:37935705:A:T	W310R	0.961
8:37934367:C:G	A398P	0.955
8:37935150:A:G	L332P	0.955
8:37935122:C:A	W341C	0.953
8:37935122:C:G	W341C	0.953
8:37934422:G:C	N379K	0.946
8:37934422:G:T	N379K	0.946
8:37937693:A:C	F118L	0.945
8:37937693:A:T	F118L	0.945
8:37937695:A:G	F118L	0.945
8:37934468:A:G	L364P	0.944
8:37936756:A:G	C243R	0.943
8:37937694:A:G	F118S	0.943
8:37937703:C:T	G115D	0.939
8:37935170:C:A	K325N	0.937
8:37935170:C:G	K325N	0.937
8:37940009:G:C	F7L	0.936
8:37940009:G:T	F7L	0.936
8:37940011:A:G	F7L	0.936
8:37937352:A:C	F148L	0.935
8:37937352:A:T	F148L	0.935
8:37937354:A:G	F148L	0.935
8:37934416:G:C	S381R	0.931
8:37934416:G:T	S381R	0.931
8:37934418:T:G	S381R	0.931
8:37935215:C:A	W310C	0.928
8:37935215:C:G	W310C	0.928

dbSNP variants (sampled 300 via entrez): RS1000613567 (8:37941622 G>A), RS1000630662 (8:37935144 A>G), RS1000745021 (8:37935534 A>C,G), RS1000901730 (8:37941394 A>T), RS1001228058 (8:37938717 C>A,T), RS1001292831 (8:37937966 G>A), RS1002856560 (8:37940474 T>G), RS1002857903 (8:37934820 C>T), RS1002906398 (8:37938066 T>G), RS1002910034 (8:37934543 G>A,T), RS1003044434 (8:37934248 A>C,G), RS1003692827 (8:37939064 G>A), RS1003908454 (8:37935992 C>T), RS1004210890 (8:37939380 C>T), RS1004808626 (8:37941348 C>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:147950

GenCC curated gene-disease

Mondo (1): hypogonadotropic hypogonadism 2 with or without anosmia (MONDO:0007844)

Orphanet (1): Kallmann syndrome (Orphanet:478)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation	2
bisphenol A	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Decitabine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Drugs, Chinese Herbal	increases expression	1
Malathion	increases expression	1
Naphthoquinones	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases abundance, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.