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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RIMKLB
ribosomal modification protein rimK like family member B
Chromosome 12 · 12p13.31
NCBI Gene: 57494Ensembl: ENSG00000166532.17HGNC: HGNC:29228UniProt: Q9ULI2
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmN-acetyl-L-aspartate-L-glutamate ligase activitycitrate-L-glutamate ligase activitycytosolhypertensionresponse to xenobiotic stimulusneurodegenerative diseaseazoospermia
✦AI Summary

RIMKLB encodes a citrylglutamate synthase that catalyzes the synthesis of β-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate (NAAG) 1. The enzyme functions as part of the ATP-grasp protein family and shows higher efficiency in synthesizing β-citryl-glutamate compared to NAAG 1. RIMKLB is highly expressed in vertebrate testes, where it plays an essential role in spermiogenesis by facilitating chr12 remodeling during the transition from histones to protamines in late spermatids 2. RIMKLB-deficient male mice exhibit subfertility with abnormally shaped sperm heads, impaired chr12 condensation, and retained transition proteins, suggesting β-citryl-glutamate is crucial for proper sperm development 2. In cancer contexts, RIMKLB demonstrates significant clinical relevance. Tumor-derived NAAG produced by RIMKLB disrupts anti-tumor immunity by promoting polymorphonuclear myeloid-derived suppressor cell differentiation through an NR2B-NMDAR-dependent p38-NOTCH1 signaling axis, facilitating breast cancer metastasis 3. Multiple studies identify RIMKLB as a prognostic biomarker in colorectal cancer, where its expression correlates with patient survival outcomes and disease progression 4567. The gene's involvement in amino acid metabolism and its association with cancer prognosis highlight its potential as both a therapeutic target and prognostic indicator across multiple malignancies.

Sources cited
1
RIMKLB encodes NAAG synthetase I that synthesizes β-citryl-L-glutamate and NAAG as part of ATP-grasp protein family
PMID: 21454531
2
RIMKLB is essential for chromatin remodeling during spermiogenesis and male fertility through β-citryl-glutamate production
PMID: 35419597
3
RIMKLB-produced NAAG disrupts anti-tumor immunity and promotes breast cancer metastasis via NR2B-NMDAR signaling
PMID: 39800628
4
RIMKLB serves as prognostic biomarker in colon adenocarcinoma as part of amino acid metabolism-related gene signature
PMID: 35712285
5
RIMKLB identified as prognosis-associated mRNA in colorectal cancer ceRNA network analysis
PMID: 36181111
6
RIMKLB included in macrophage-related risk signature for colorectal cancer prognosis prediction
PMID: 38466182
7
RIMKLB identified as prognostic gene in lymphangiogenesis-related signature for colorectal cancer
PMID: 38167072
Disease Associationsⓘ20
hypertensionOpen Targets
0.47Moderate
response to xenobiotic stimulusOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.31Weak
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spermatogenic failure 56Open Targets
0.06Suggestive
spermatogenic failure 92Open Targets
0.06Suggestive
spermatogenic failure 94Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.06Suggestive
spermatogenic failure 54Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 40Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 76Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MDH2Protein interaction96%CSProtein interaction96%NAT8LProtein interaction95%ASPAProtein interaction93%FOLH1Protein interaction93%IDH1Protein interaction84%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
73%
Heart
46%
Lung
39%
Brain
26%
Liver
8%
Gene Interaction Network
Click a node to explore
RIMKLBMDH2CSNAT8LASPAFOLH1IDH1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9ULI2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.45Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.21 [0.11–0.45]
RankingsWhere RIMKLB stands among ~20K protein-coding genes
  • #14,794of 20,598
    Most Researched18
  • #2,467of 17,882
    Most Constrained (LOEUF)0.45 · top quartile
Genes detectedRIMKLB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Tumor cell-derived N-acetyl-aspartyl-glutamate reshapes the tumor microenvironment to facilitate breast cancer metastasis.
PMID: 39800628
Sci Bull (Beijing) · 2025
1.00
2
A Prognostic Model for Colon Adenocarcinoma Patients Based on Ten Amino Acid Metabolism Related Genes.
PMID: 35712285
Front Public Health · 2022
0.90
3
Comprehensive Analysis of Differentially Expressed Profiles of mRNA N6-Methyladenosine in Colorectal Cancer.
PMID: 35087827
Front Cell Dev Biol · 2021
0.80
4
N-acetylaspartylglutamate synthetase II synthesizes N-acetylaspartylglutamylglutamate.
PMID: 21454531
J Biol Chem · 2011
0.70
5
Systematic analysis competing endogenous RNA coexpression network as a potentially prediction prognostic biomarker for colon adenocarcinoma.
PMID: 36181111
Medicine (Baltimore) · 2022
0.60