CTIF cap binding complex dependent translation initiation factor
Gene ID: 9811, updated on 2-Nov-2024Gene type: protein coding
Also known as: Gm672; KIAA0427
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- Go to complete Gene record for CTIF
- Go to Variation Viewer for CTIF variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Gene network analysis in a pediatric cohort identifies novel lung function genes. GeneReviews: Not available | |
Genome-wide meta-analysis identifies new susceptibility loci for migraine. GeneReviews: Not available | |
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available |
Genomic context
- Location:
- 18q21.1
- Sequence:
- Chromosome: 18; NC_000018.10 (48539031..48863217)
- Total number of exons:
- 18
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CTIF variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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