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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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AIMP1
aminoacyl tRNA synthetase complex interacting multifunctional protein 1
Chromosome 4 Β· 4q24
NCBI Gene: 9255Ensembl: ENSG00000164022.19HGNC: HGNC:10648UniProt: B4DNK3
222PubMed Papers
21Diseases
0Drugs
20Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosoltRNA bindingprotein bindingprotein homodimerization activityhypomyelinating leukodystrophy 3Pelizaeus-Merzbacher-like disease due to AIMP1 mutationHypomyelinating leukodystrophy with or without oligondontia and/or hypogonadismleukodystrophy
✦AI Summary

AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1) is a non-catalytic scaffold protein that serves dual roles in protein synthesis and inflammatory signaling. As a core component of the multi-aminoacyl tRNA synthetase complex (MSC), AIMP1 facilitates tRNA aminoacylation through leucine zipper motifs that mediate complex assembly with RARS1 and AIMP2 1. The protein demonstrates context-dependent functionality, remaining intracellular under normal conditions but being secreted under cellular stress to exert extracellular cytokine activity 2. Upon secretion, AIMP1 promotes pro-inflammatory gene expression in immune cells and serves as a precursor to EMAP II through proteasomal cleavage 3. The protein also regulates tissue homeostasis, with AIMP1-derived peptides promoting dermal papilla cell activation and hair follicle growth 4. Clinically, biallelic pathogenic variants in AIMP1 cause hypomyelinating leukodystrophy type 3, a severe neurodegenerative disorder characterized by microcephaly, epilepsy, and developmental delay 5. Additionally, AIMP1 has been identified as a potential therapeutic target for hypertension through Mendelian randomization studies 6, highlighting its broader physiological significance beyond its canonical roles in protein synthesis and inflammation.

Sources cited
1
AIMP1 facilitates complex assembly through leucine zipper motifs with RARS1 and AIMP2 in the multi-aminoacyl tRNA synthetase complex
PMID: 39542129
2
AIMP1 can be secreted under stress conditions and promotes pro-inflammatory gene expression in immune cells
PMID: 26325028
3
AIMP1 serves as precursor to EMAP II cytokine through proteasomal cleavage
PMID: 17443684
4
AIMP1-derived peptides promote dermal papilla cell activation and hair follicle growth
PMID: 39494335
5
Biallelic pathogenic variants in AIMP1 cause hypomyelinating leukodystrophy type 3 with severe neurodevelopmental features
PMID: 36652953
6
AIMP1 identified as potential therapeutic target for hypertension through Mendelian randomization analysis
PMID: 40109242
Disease Associationsβ“˜21
hypomyelinating leukodystrophy 3Open Targets
0.78Strong
Pelizaeus-Merzbacher-like disease due to AIMP1 mutationOpen Targets
0.72Strong
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadismOpen Targets
0.66Moderate
leukodystrophyOpen Targets
0.37Weak
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.37Weak
HypotoniaOpen Targets
0.34Weak
asthmaOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
intestinal impactionOpen Targets
0.16Weak
androgenetic alopeciaOpen Targets
0.12Weak
Complete right bundle branch blockOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
glioblastoma multiformeOpen Targets
0.10Suggestive
Miyoshi myopathyOpen Targets
0.08Suggestive
non-Hodgkins lymphomaOpen Targets
0.07Suggestive
Cannabis useOpen Targets
0.06Suggestive
gliomaOpen Targets
0.05Suggestive
Left bundle branch blockOpen Targets
0.05Suggestive
Abruptio PlacentaeOpen Targets
0.05Suggestive
systemic lupus erythematosusOpen Targets
0.04Suggestive
Leukodystrophy, hypomyelinating, 3UniProt
Pathogenic Variants20
NM_001142416.2(AIMP1):c.162del (p.Lys54fs)Pathogenic
Hypomyelinating leukodystrophy 3|not provided|AIMP1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 54
NM_001142416.2(AIMP1):c.267_282del (p.Asn89fs)Pathogenic
Hypomyelinating leukodystrophy 3|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 89
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter)Pathogenic
Hypomyelinating leukodystrophy 3|not provided|AIMP1-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 39
NM_001142416.2(AIMP1):c.191_192del (p.Gln64fs)Pathogenic
not provided|Hypomyelinating leukodystrophy 3
β˜…β˜…β˜†β˜†2023β†’ Residue 64
NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter)Pathogenic
Hypomyelinating leukodystrophy 3|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 112
NM_001142416.2(AIMP1):c.362_366del (p.Lys121fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2017β†’ Residue 121
NM_001142416.2(AIMP1):c.441_442insTT (p.Lys148fs)Likely pathogenic
Hypomyelinating leukodystrophy 3
β˜…β˜†β˜†β˜†2025β†’ Residue 148
NM_001142416.2(AIMP1):c.895G>A (p.Gly299Arg)Pathogenic
Hypomyelinating leukodystrophy 3
β˜…β˜†β˜†β˜†2024β†’ Residue 299
NM_001142416.2(AIMP1):c.670C>T (p.Gln224Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 224
NM_001142416.2(AIMP1):c.223+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001142416.2(AIMP1):c.695C>A (p.Ser232Ter)Pathogenic
Hypomyelinating leukodystrophy 3
β˜…β˜†β˜†β˜†2023β†’ Residue 232
NM_001142416.2(AIMP1):c.411del (p.Lys137fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 137
NM_001142416.2(AIMP1):c.347del (p.Gly116fs)Likely pathogenic
Hypomyelinating leukodystrophy 3
β˜…β˜†β˜†β˜†2023β†’ Residue 116
NM_001142416.2(AIMP1):c.145C>T (p.Arg49Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 49
NM_001142416.2(AIMP1):c.78del (p.Lys26fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 26
NM_001142416.2(AIMP1):c.89_92del (p.Ser30fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 30
NM_001142416.2(AIMP1):c.692_695dup (p.Pro233fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 233
NM_001142416.2(AIMP1):c.82C>T (p.Gln28Ter)Pathogenic
Hypotonia
β˜…β˜†β˜†β˜†β†’ Residue 28
NM_001142416.2(AIMP1):c.706del (p.Ile236fs)Likely pathogenic
AIMP1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 236
NM_001142416.2(AIMP1):c.292_293del (p.Gln98fs)Pathogenic
Hypomyelinating leukodystrophy 3
β˜†β˜†β˜†β˜†2010β†’ Residue 98
View on ClinVar β†—
Related Genes
AARS1Protein interaction100%DARS1Protein interaction100%EPRS1Protein interaction100%HARS1Protein interaction100%IARS1Protein interaction100%KARS1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
88%
Brain
63%
Ovary
63%
Liver
60%
Lung
59%
Gene Interaction Network
Click a node to explore
AIMP1AARS1DARS1EPRS1HARS1IARS1KARS1
PROTEIN STRUCTURE
Preparing viewer…
PDB1FL0 Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.93LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.45–0.93]
RankingsWhere AIMP1 stands among ~20K protein-coding genes
  • #1,836of 20,598
    Most Researched222 Β· top 10%
  • #2,179of 5,498
    Most Pathogenic Variants20
  • #8,597of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedAIMP1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
PMID: 31618474
Ann Neurol Β· 2019
1.00
2
Architecture and metamorphosis.
PMID: 23536245
Top Curr Chem Β· 2014
0.90
3
A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.
PMID: 36652953
Neuropediatrics Β· 2023
0.80
4
AIMP3 maintains cardiac homeostasis by regulating the editing activity of methionyl-tRNA synthetase.
PMID: 40562875
Nat Cardiovasc Res Β· 2025
0.76
5
Stepping Out of the Cytosol: AIMp1/p43 Potentiates the Link Between Innate and Adaptive Immunity.
PMID: 26325028
Int Rev Immunol Β· 2015
0.70