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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KTI12
KTI12 chromatin associated homolog
Chromosome 1 · 1p32.3
NCBI Gene: 112970Ensembl: ENSG00000198841.4HGNC: HGNC:25160UniProt: Q96EK9
17PubMed Papers
6Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtRNA wobble uridine modificationneurodegenerative diseaseprotozoa infectious diseasemelorheostosisinfluenza
✦AI Summary

KTI12 (chr1-associated homolog) is a regulatory protein involved in tRNA modification and Elongator complex function. Primary Function: KTI12 serves as an essential regulatory factor of the Elongator complex, which catalyzes the modification of uridine bases in eukaryotic tRNAs 1. Mechanism: Rather than functioning as a structural Elongator subunit, KTI12 regulates Elongator through transient physical interactions, likely mediated by a conserved P-loop motif capable of ATP/GTP binding 2. Co-immunoprecipitation and proximity labeling studies confirm Elongator as KTI12's primary interaction partner, with additional links to proteins involved in vesicular transport, RNA metabolism, and deubiquitination 1. Disease Relevance: KTI12 has emerged as a candidate gene in type 2 diabetes susceptibility, identified through positional cloning in a mouse model displaying severe hyperglycemia and β-cell loss 3. The gene shows differential expression in pancreatic islets and sequence variation between disease-susceptible and resistant populations 3. Clinical Significance: Understanding KTI12's regulatory networks controlling Elongator activity may have implications for metabolic disease, though the exact mechanisms linking tRNA modification defects to β-cell dysfunction require further investigation.

Sources cited
1
KTI12 is an essential regulatory factor of the Elongator complex involved in tRNA uridine modification, interacts with Elongator as primary partner, and does not share function with PSTK
PMID: 33417976
2
KTI12/TOT4 regulates Elongator through transient physical contact, contains conserved P-loop motif for ATP/GTP binding, and is not a structural Elongator subunit
PMID: 11929532
3
KTI12 is a candidate type 2 diabetes gene identified through positional cloning showing differential pancreatic islet expression and sequence variation in disease-susceptible mice
PMID: 33133152
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ6
neurodegenerative diseaseOpen Targets
0.53Moderate
protozoa infectious diseaseOpen Targets
0.03Suggestive
melorheostosisOpen Targets
0.03Suggestive
influenzaOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
URM1Shared pathway100%CTU2Shared pathway100%DPH3Protein interaction93%ELP5Protein interaction93%ELP3Protein interaction73%ELP1Protein interaction64%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
97%
Liver
78%
Brain
65%
Lung
62%
Heart
34%
Gene Interaction Network
Click a node to explore
KTI12URM1CTU2DPH3ELP5ELP3ELP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96EK9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.49LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.52–1.49]
RankingsWhere KTI12 stands among ~20K protein-coding genes
  • #15,037of 20,598
    Most Researched17
  • #15,089of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedKTI12
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Same but different - Molecular comparison of human KTI12 and PSTK.
PMID: 33417976
Biochim Biophys Acta Mol Cell Res · 2021
1.00
2
Molecular analysis of KTI12/TOT4, a Saccharomyces cerevisiae gene required for Kluyveromyces lactis zymocin action.
PMID: 11929532
Mol Microbiol · 2002
0.67
3
Identification of Novel Potential Type 2 Diabetes Genes Mediating β-Cell Loss and Hyperglycemia Using Positional Cloning.
PMID: 33133152
Front Genet · 2020
0.33