CTIF
cap binding complex dependent translation initiation factor
Summary
CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs16949646 | 18:46,138,075 | C/T | — | — |
| rs761350153 | 18:46,145,980 | G/A | — | uncertain significance |
| rs199996585 | 18:46,145,986 | G/A | — | uncertain significance |
| rs1347911458 | 18:46,146,021 | G/A | — | uncertain significance |
| rs144987594 | 18:46,146,044 | G/C | — | uncertain significance |
| rs201039241 | 18:46,146,051 | G/A | — | uncertain significance |
| rs146773532 | 18:46,146,089 | C/T | — | likely benign |
| rs1307269245 | 18:46,146,105 | C/T | — | uncertain significance |
| rs35875164 | 18:46,162,993 | G/A | — | benign |
| rs200501668 | 18:46,163,007 | C/T | — | uncertain significance |
| rs1450363201 | 18:46,190,186 | G/A | — | uncertain significance |
| rs75687084 | 18:46,190,200 | A/G | — | benign |
| rs901309470 | 18:46,190,848 | G/C | — | uncertain significance |
| rs1443832008 | 18:46,190,870 | C/A | — | uncertain significance |
| rs759987049 | 18:46,190,908 | C/G | — | uncertain significance |
| rs1253922998 | 18:46,190,916 | G/A | — | uncertain significance |
| rs756486451 | 18:46,197,092 | G/A | — | uncertain significance |
| rs299741 | 18:46,198,490 | A/T | downstream gene variant | — |
| rs16949825 | 18:46,227,444 | C/G | intron variant | — |
| rs9947954 | 18:46,240,711 | A/C | intron variant | — |
| rs756842456 | 18:46,284,307 | C/T | — | uncertain significance |
| rs2511224974 | 18:46,284,360 | C/A | — | uncertain significance |
| rs374697225 | 18:46,284,367 | G/A | — | uncertain significance |
| rs2511225289 | 18:46,284,389 | G/C | — | uncertain significance |
| rs148673663 | 18:46,284,447 | C/T | — | uncertain significance |
| rs957980839 | 18:46,284,461 | T/G | — | uncertain significance |
| rs989138919 | 18:46,284,466 | A/C | — | uncertain significance |
| rs202032754 | 18:46,284,504 | G/A | — | likely benign |
| rs775834192 | 18:46,284,517 | C/T | — | uncertain significance |
| rs116794939 | 18:46,284,536 | C/T | — | benign |
| rs150436238 | 18:46,284,573 | G/A | — | uncertain significance |
| rs145237824 | 18:46,284,585 | C/T | — | uncertain significance |
| rs139196062 | 18:46,284,598 | G/A | — | uncertain significance |
| rs934281397 | 18:46,284,651 | T/C | — | likely benign |
| rs367566894 | 18:46,284,655 | G/C | — | uncertain significance |
| rs199954321 | 18:46,284,703 | G/A | — | uncertain significance |
| rs377029382 | 18:46,284,757 | G/A | — | uncertain significance |
| rs202183503 | 18:46,287,773 | G/A | — | uncertain significance |
| rs553095841 | 18:46,287,818 | G/A | — | uncertain significance |
| rs144162788 | 18:46,287,938 | A/G | — | uncertain significance |
| rs771103149 | 18:46,287,995 | G/A | — | uncertain significance |
| rs1909009436 | 18:46,288,043 | C/T | — | uncertain significance |
| rs184806872 | 18:46,310,700 | G/C | — | — |
| rs12455557 | 18:46,317,088 | C/A | — | — |
| rs62103272 | 18:46,323,866 | G/T | intron variant | — |
| rs62103293 | 18:46,330,654 | C/T | intron variant | — |
| rs7227892 | 18:46,336,702 | A/T | intron variant | — |
| rs147123396 | 18:46,383,972 | A/G | — | uncertain significance |
| rs199853397 | 18:46,385,890 | C/T | — | uncertain significance |
| rs6507872 | 18:46,388,444 | C/G | — | — |
| rs8091995 | 18:46,389,069 | G/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.