KTI12
gene geneOn this page
Also known as TOT4MGC20419SBBI81
Summary
KTI12 (KTI12 chromatin associated homolog, HGNC:25160) is a protein-coding gene on chromosome 1p32.3, encoding Protein KTI12 homolog (Q96EK9). It is a selective cancer dependency (DepMap: 88.6% of cell lines).
Predicted to enable ATP binding activity. Predicted to be involved in tRNA wobble uridine modification.
Source: NCBI Gene 112970 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 55 total
- Cancer dependency (DepMap): dependent in 88.6% of screened cell lines
- MANE Select transcript:
NM_138417
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25160 |
| Approved symbol | KTI12 |
| Name | KTI12 chromatin associated homolog |
| Location | 1p32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TOT4, MGC20419, SBBI81 |
| Ensembl gene | ENSG00000198841 |
| Ensembl biotype | protein_coding |
| Entrez | 112970 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000371614
RefSeq mRNA: 1 — MANE Select: NM_138417
NM_138417
CCDS: CCDS562
Canonical transcript exons
ENST00000371614 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001455669 | 52032103 | 52033810 |
Expression profiles
Bgee: expression breadth ubiquitous, 177 present calls, max score 89.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5008 / max 98.8867, expressed in 1796 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12345 | 10.9965 | 1796 |
| 12344 | 0.5043 | 214 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.16 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.06 | gold quality |
| granulocyte | CL:0000094 | 81.73 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.27 | gold quality |
| leukocyte | CL:0000738 | 80.90 | gold quality |
| monocyte | CL:0000576 | 80.80 | gold quality |
| left adrenal gland | UBERON:0001234 | 80.48 | gold quality |
| right adrenal gland | UBERON:0001233 | 80.42 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 80.27 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 79.97 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.54 | gold quality |
| islet of Langerhans | UBERON:0000006 | 78.88 | gold quality |
| adrenal gland | UBERON:0002369 | 78.23 | gold quality |
| left uterine tube | UBERON:0001303 | 78.17 | gold quality |
| adrenal cortex | UBERON:0001235 | 77.98 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 77.48 | gold quality |
| right ovary | UBERON:0002118 | 76.83 | gold quality |
| vermiform appendix | UBERON:0001154 | 76.51 | gold quality |
| body of stomach | UBERON:0001161 | 76.38 | gold quality |
| left ovary | UBERON:0002119 | 76.36 | gold quality |
| thoracic aorta | UBERON:0001515 | 76.32 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 76.27 | gold quality |
| lower esophagus | UBERON:0013473 | 76.24 | gold quality |
| left coronary artery | UBERON:0001626 | 76.17 | gold quality |
| spleen | UBERON:0002106 | 76.05 | gold quality |
| ascending aorta | UBERON:0001496 | 76.04 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 76.01 | gold quality |
| transverse colon | UBERON:0001157 | 75.84 | gold quality |
| aorta | UBERON:0000947 | 75.66 | gold quality |
| popliteal artery | UBERON:0002250 | 75.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.53 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting KTI12, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-325 | 99.58 | 66.55 | 358 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
| HSA-MIR-12113 | 99.32 | 67.54 | 1072 |
| HSA-MIR-888-5P | 99.30 | 70.15 | 1855 |
| HSA-MIR-3125 | 99.14 | 68.49 | 2269 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-3916 | 98.99 | 68.04 | 2155 |
| HSA-MIR-6859-5P | 98.99 | 68.07 | 2049 |
| HSA-MIR-5006-5P | 98.79 | 66.92 | 1246 |
| HSA-MIR-4539 | 98.78 | 67.18 | 888 |
| HSA-MIR-6852-3P | 98.54 | 67.60 | 1468 |
| HSA-MIR-4704-3P | 98.28 | 69.33 | 1300 |
| HSA-MIR-3909 | 97.55 | 66.78 | 887 |
| HSA-MIR-4661-3P | 96.81 | 66.02 | 342 |
| HSA-MIR-4683 | 95.29 | 65.98 | 631 |
| HSA-MIR-877-5P | 94.62 | 66.30 | 710 |
| HSA-MIR-4746-5P | 94.32 | 69.49 | 70 |
| HSA-MIR-12115 | 94.19 | 66.37 | 738 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 88.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- Same but different - Molecular comparison of human KTI12 and PSTK. (PMID:33417976)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kti12 | ENSDARG00000054301 |
| mus_musculus | Kti12 | ENSMUSG00000073775 |
| rattus_norvegicus | Kti12 | ENSRNOG00000070073 |
| drosophila_melanogaster | CG3587 | FBGN0023521 |
| caenorhabditis_elegans | WBGENE00013332 |
Protein
Protein identifiers
Protein KTI12 homolog — Q96EK9 (reviewed: Q96EK9)
All UniProt accessions (1): Q96EK9
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the KTI12 family.
RefSeq proteins (1): NP_612426* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013641 | KTI12/PSTK | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF08433
UniProt features (8 total): region of interest 2, modified residue 2, chain 1, compositionally biased region 1, binding site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96EK9-F1 | 75.18 | 0.45 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 8–15
Post-translational modifications (2): 184, 200
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 95 (showing top):
GOBP_TRNA_METABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_RNA_MODIFICATION, NRF2_01, GOBP_TRNA_PROCESSING, GOBP_TRNA_MODIFICATION, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, SCGGAAGY_ELK1_02, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOBP_TRNA_WOBBLE_BASE_MODIFICATION, LEE_BMP2_TARGETS_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_36HR, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, ESC_J1_UP_EARLY.V1_DN
GO Biological Process (1): tRNA wobble uridine modification (GO:0002098)
GO Molecular Function (3): ATP binding (GO:0005524), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| tRNA wobble base modification | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
Protein interactions and networks
STRING
848 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KTI12 | ELP1 | O95163 | 833 |
| KTI12 | ELP3 | Q9H9T3 | 805 |
| KTI12 | ELP4 | Q96EB1 | 800 |
| KTI12 | DPH3 | Q96FX2 | 798 |
| KTI12 | MOCS3 | O95396 | 717 |
| KTI12 | PSTK | Q8IV42 | 687 |
| KTI12 | CTU1 | Q7Z7A3 | 682 |
| KTI12 | URM1 | Q9BTM9 | 681 |
| KTI12 | PPP6R1 | Q9UPN7 | 637 |
| KTI12 | PPP6R2 | O75170 | 632 |
| KTI12 | PPP6R3 | Q5H9R7 | 613 |
| KTI12 | ELP5 | Q8TE02 | 564 |
| KTI12 | MCM5 | P33992 | 561 |
| KTI12 | LZIC | Q8WZA0 | 540 |
| KTI12 | TMEM144 | Q7Z5S9 | 538 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FHL3 | KTI12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KTI12 | FHL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR35 | ATP5F1B | psi-mi:“MI:0914”(association) | 0.530 |
| GPR35 | LGALS3 | psi-mi:“MI:0914”(association) | 0.530 |
| ELP3 | ACACB | psi-mi:“MI:0914”(association) | 0.350 |
| SNW1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (46): KTI12 (Two-hybrid), KTI12 (Affinity Capture-MS), KTI12 (Co-fractionation), KTI12 (Affinity Capture-MS), KTI12 (Affinity Capture-MS), KTI12 (Affinity Capture-MS), KTI12 (Affinity Capture-MS), KTI12 (Affinity Capture-MS), KTI12 (Affinity Capture-MS), KTI12 (Negative Genetic), KTI12 (Negative Genetic), KTI12 (Negative Genetic), MAGED2 (Co-fractionation), KTI12 (Affinity Capture-MS), IKBKAP (Affinity Capture-Western)
ESM2 similar proteins: A5WVX1, A6H784, A8MPP1, D3ZU57, O08600, O08644, O09127, O15197, O19179, O55171, O88941, P08466, P0C0K6, P28339, P29322, P38447, P51840, P51976, P52785, P54760, P54761, P55203, P81203, P81204, Q00653, Q02846, Q08DH8, Q0IH72, Q10480, Q10RZ1, Q14249, Q1HG60, Q2KIF8, Q2TBI4, Q3U6U5, Q502K1, Q80SX8, Q80UM7, Q8BYM8, Q8C163
Diamond homologs: B8BK80, B9GAG9, P34253, Q0P457, Q148I5, Q4KLF3, Q5I0L7, Q96EK9, Q9D1R2, Q9LMH0, Q9P7V4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
72 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:52033740:C:CT | acceptor_gain | 0.9100 |
| 1:52033740:C:T | acceptor_gain | 0.8300 |
| 1:52032689:T:TA | donor_gain | 0.7800 |
| 1:52032720:A:AC | donor_gain | 0.7100 |
| 1:52032721:C:CC | donor_gain | 0.7100 |
| 1:52032850:TGTGG:T | donor_gain | 0.6000 |
| 1:52032682:C:A | donor_gain | 0.5200 |
| 1:52032684:C:T | donor_gain | 0.4900 |
| 1:52032685:T:TT | donor_gain | 0.4700 |
| 1:52032931:G:GT | donor_gain | 0.4100 |
| 1:52032902:T:TA | donor_gain | 0.4000 |
| 1:52032928:CGTG:C | donor_gain | 0.3900 |
| 1:52032443:TGTC:T | donor_gain | 0.3800 |
| 1:52032446:C:CT | donor_gain | 0.3400 |
| 1:52032679:C:A | donor_gain | 0.3400 |
| 1:52032923:TG:T | donor_gain | 0.3400 |
| 1:52032930:TG:T | donor_gain | 0.3400 |
| 1:52032920:A:AC | donor_gain | 0.3300 |
| 1:52032921:C:CC | donor_gain | 0.3300 |
| 1:52032690:C:G | donor_gain | 0.3200 |
| 1:52032903:C:A | donor_gain | 0.3200 |
| 1:52032929:G:GC | donor_gain | 0.3200 |
| 1:52032689:TCCTC:T | donor_gain | 0.3100 |
| 1:52032926:CTCG:C | donor_gain | 0.3100 |
| 1:52032927:TCGT:T | donor_gain | 0.3100 |
| 1:52033127:AGGG:A | donor_gain | 0.3100 |
| 1:52032678:TCCC:T | donor_gain | 0.3000 |
| 1:52032679:CCCC:C | donor_gain | 0.3000 |
| 1:52032680:CCCC:C | donor_gain | 0.3000 |
| 1:52032681:CCCC:C | donor_gain | 0.3000 |
AlphaMissense
2260 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:52033087:C:A | W225C | 0.998 |
| 1:52033087:C:G | W225C | 0.998 |
| 1:52033089:A:G | W225R | 0.998 |
| 1:52033089:A:T | W225R | 0.998 |
| 1:52032787:A:C | F325L | 0.997 |
| 1:52032787:A:T | F325L | 0.997 |
| 1:52032788:A:G | F325S | 0.997 |
| 1:52032789:A:G | F325L | 0.997 |
| 1:52032728:A:G | F345S | 0.995 |
| 1:52033508:T:A | K85I | 0.995 |
| 1:52033516:G:C | N82K | 0.994 |
| 1:52033516:G:T | N82K | 0.994 |
| 1:52032727:A:C | F345L | 0.993 |
| 1:52032727:A:T | F345L | 0.993 |
| 1:52032729:A:G | F345L | 0.993 |
| 1:52032929:G:T | T278K | 0.992 |
| 1:52033086:C:G | D226H | 0.992 |
| 1:52032809:A:G | L318P | 0.991 |
| 1:52033085:T:A | D226V | 0.991 |
| 1:52033507:T:A | K85N | 0.991 |
| 1:52033507:T:G | K85N | 0.991 |
| 1:52032794:C:G | R323P | 0.990 |
| 1:52032797:C:G | R322P | 0.990 |
| 1:52032798:G:T | R322S | 0.990 |
| 1:52033497:A:G | Y89H | 0.990 |
| 1:52033500:G:T | R88S | 0.990 |
| 1:52033506:C:G | G86R | 0.990 |
| 1:52033085:T:G | D226A | 0.989 |
| 1:52033106:G:T | P219H | 0.989 |
| 1:52033501:G:C | F87L | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000969069 (1:52033560 G>A), RS1001617907 (1:52034269 A>C), RS1001940561 (1:52032566 G>A,C), RS1001973064 (1:52032300 G>C,T), RS1003474049 (1:52034995 C>T), RS1003540551 (1:52035753 C>T), RS1003548355 (1:52033612 G>A), RS1003746159 (1:52034775 A>T), RS1004911567 (1:52035048 G>A), RS1005574366 (1:52032225 T>C), RS1005606985 (1:52031852 G>A), RS1006538577 (1:52034654 G>A,C), RS1009554453 (1:52035574 G>A,C,T), RS1010815962 (1:52034722 G>A,T), RS1010845711 (1:52034235 G>A)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression | 2 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,6-dichloro-(1,4)benzoquinone | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Formaldehyde | decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression, increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.