KTI12
KTI12 Chromatin Associated Factor
Gene Information Card
| Symbol | KTI12 |
|---|---|
| Full Name | KTI12 chromatin associated factor |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q9Y2K2 |
| OMIM ID | 191170 |
| HGNC ID | 6390 |
| Aliases | KTI12, C1orf32, ELP4, TOT1 |
Description
KTI12 is a protein-coding gene that encodes a component of the Elongator complex, which is involved in transcriptional elongation and chromatin remodeling. The gene is located on chromosome 1p36.33 and is associated with various cellular processes including tRNA modification and DNA repair. Mutations in KTI12 have been linked to cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered Elongator function may affect TP53-mediated transcription | COSMIC, ClinVar |
| Breast cancer | Somatic mutations in KTI12 reported in tumor samples | COSMIC |
| Lung cancer | Mutations in KTI12 observed in non-small cell lung carcinoma | COSMIC |
| Developmental delay | Rare germline variants in KTI12 associated with neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Colon | 5.4 | Low |
| Breast | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| A549 | 7.8 | Lung cancer cell line |
| MCF7 | 6.2 | Breast cancer cell line |
| HCT116 | 5.9 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.215C>T (p.Pro72Leu) | Missense | 0.2% | May affect protein stability |
| c.487G>A (p.Glu163Lys) | Missense | 0.1% | Reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or unstable protein, impairing Elongator complex activity.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Possible if mutant KTI12 disrupts Elongator complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005634 (GO:0005634) | • GO:0005515 (GO:0005515) |
| • GO:0033588 (GO:0033588) | • GO:0006355 (GO:0006355) |
| • GO:0002098 (GO:0002098) |
Pathways
• Elongator complex pathway
• tRNA modification
• Chromatin remodeling
Protein Summary
KTI12 encodes a 364-amino acid protein that localizes to the nucleus and is a subunit of the Elongator complex. The protein interacts with other Elongator components (ELP1-6) and is involved in transcriptional elongation and tRNA modification. It has been implicated in cellular stress responses and DNA damage repair.
Related Services
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