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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RIMKLA
ribosomal modification protein rimK like family member A
Chromosome 1 · 1p34.2
NCBI Gene: 284716Ensembl: ENSG00000177181.16HGNC: HGNC:28725UniProt: Q8IXN7
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingN-acetyl-L-aspartate-L-glutamate ligase activitycytoplasmL-amino acid metabolic processAbruptio PlacentaesialadenitisBarrett's esophagusesophageal disease
✦AI Summary

RIMKLA (ribosomal modification protein rimK like family member A) is a cytoplasmic ATP-grasp ligase that catalyzes synthesis of N-acetyl-L-aspartyl-L-glutamate (NAAG) and N-acetylaspartylglutamylglutamate (NAAG₂) 12. The enzyme is predominantly expressed in the central nervous system, where NAAG functions as a group II metabotropic glutamate receptor agonist 2. Beyond its canonical neuropeptide role, RIMKLA exhibits novel protein kinase activity that phosphorylates betaine-homocysteine S-methyltransferase 1 (BHMT1) at threonine 45, activating homocysteine metabolism and suppressing hepatic lipid synthesis and uptake 3. In metabolic disease, RIMKLA expression is reduced in nonalcoholic fatty liver disease (NAFLD), and hepatic RIMKLA overexpression ameliorates steatosis and hyperglycemia in obese mice through BHMT1-mediated repression of fatty acid synthase and CD36 gene transcription 3. RIMKLA has been identified as a differentially expressed glutamine metabolism-related gene in diabetic foot ulcer and thyroid carcinoma pathogenesis 45, and is upregulated under hypoxic conditions in triple-negative breast cancer 6. While candidate disease-causing variants in RIMKLA have been identified 7, its precise therapeutic potential in metabolic and neoplastic diseases requires further investigation.

Sources cited
1
RIMKLA is a protein kinase that phosphorylates BHMT1 at Thr45 to repress hepatic lipid synthesis and uptake; RIMKLA expression is reduced in NAFLD livers
PMID: 39117631
2
RIMKLA catalyzes ATP-dependent synthesis of NAAG from N-acetylaspartate and L-glutamate; is highly expressed in CNS
PMID: 20657015
3
RIMKLA encodes NAAG synthetase II (NAAGS-II) that synthesizes both NAAG and N-acetylaspartylglutamylglutamate (NAAG₂); NAAG is a group II metabotropic glutamate receptor agonist
PMID: 21454531
4
RIMKLA is identified as a differentially expressed glutamine metabolism-related gene in diabetic foot ulcer
PMID: 38287255
5
RIMKLA is identified as a glutamine metabolism-related gene marker in thyroid carcinoma
PMID: 41465972
6
RIMKLA expression is upregulated in MDA-MB-231 triple-negative breast cancer cells under hypoxia
PMID: 39194515
7
RIMKLA is identified as a candidate gene with variants not previously linked to human phenotypes
PMID: 28600779
Disease Associationsⓘ20
Abruptio PlacentaeOpen Targets
0.35Weak
sialadenitisOpen Targets
0.27Weak
Barrett's esophagusOpen Targets
0.04Suggestive
esophageal diseaseOpen Targets
0.03Suggestive
sinoatrial node disorderOpen Targets
0.03Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
HyperglycemiaOpen Targets
0.01Suggestive
steatosisOpen Targets
0.01Suggestive
memory impairmentOpen Targets
0.01Suggestive
Hepatic steatosisOpen Targets
0.01Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
metabolic diseaseOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
gestational diabetesOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NAT8LProtein interaction95%ASPAProtein interaction93%FOLH1Protein interaction93%RIMKLBProtein interaction82%GATBProtein interaction76%ASPGShared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
49%
Lung
7%
Liver
1%
Bone Marrow
1%
Ovary
0%
Gene Interaction Network
Click a node to explore
RIMKLANAT8LASPAFOLH1RIMKLBGATBASPG
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8IXN7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.14Tolerant
Observed/Expected LoF0.45 [0.28–0.76]
RankingsWhere RIMKLA stands among ~20K protein-coding genes
  • #15,981of 20,598
    Most Researched14
  • #6,076of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedRIMKLA
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Ribosomal modification protein rimK-like family member A activates betaine-homocysteine S-methyltransferase 1 to ameliorate hepatic steatosis.
PMID: 39117631
Signal Transduct Target Ther · 2024
1.00
2
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
0.86
3
A novel diabetic foot ulcer diagnostic model: identification and analysis of genes related to glutamine metabolism and immune infiltration.
PMID: 38287255
BMC Genomics · 2024
0.71
4
Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase.
PMID: 20657015
J Biol Chem · 2010
0.57
5
N-acetylaspartylglutamate synthetase II synthesizes N-acetylaspartylglutamylglutamate.
PMID: 21454531
J Biol Chem · 2011
0.43