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    CTIF cap binding complex dependent translation initiation factor [ Homo sapiens (human) ]

    Gene ID: 9811, updated on 2-Nov-2024

    Summary

    Official Symbol
    CTIFprovided by HGNC
    Official Full Name
    cap binding complex dependent translation initiation factorprovided by HGNC
    Primary source
    HGNC:HGNC:23925
    See related
    Ensembl:ENSG00000134030 MIM:613178; AllianceGenome:HGNC:23925
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Gm672; KIAA0427
    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]
    Expression
    Ubiquitous expression in fat (RPKM 23.6), brain (RPKM 13.3) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CTIF in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (48539031..48863217)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (48730230..49058523)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (46065402..46389588)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 456 Neighboring gene RNA polymerase III subunit G pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:46046456-46046664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9434 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9436 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:46068922-46069698 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:46069699-46070473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46070992-46071557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46076265-46076766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46108065-46108701 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46108702-46109338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46109339-46109974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46137869-46138684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46141771-46142312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46145063-46145781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13288 Neighboring gene uncharacterized LOC105372107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46202169-46202793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46225014-46225804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46225805-46226594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13293 Neighboring gene microRNA 4743 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46283862-46284450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46284451-46285039 Neighboring gene uncharacterized LOC107985147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46302432-46302932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46302933-46303433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46305651-46306282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46304669-46305610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46306915-46307546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46308177-46308808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13295 Neighboring gene uncharacterized LOC105372106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13298 Neighboring gene uncharacterized LOC105372105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46359045-46359708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46362171-46363071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46363072-46363971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46364242-46365020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46365021-46365799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46370909-46371409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46384077-46384578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46388739-46389290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13301 Neighboring gene Sharpr-MPRA regulatory region 12870 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:46404101-46404331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46419523-46420032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46420541-46421048 Neighboring gene Sharpr-MPRA regulatory region 7610 Neighboring gene uncharacterized LOC124904355 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46449409-46450340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46452405-46453366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46459221-46460106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13306 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:46468263-46469462 Neighboring gene NANOG hESC enhancer GRCh37_chr18:46474665-46475166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9439 Neighboring gene SMAD family member 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Gene network analysis in a pediatric cohort identifies novel lung function genes.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0427

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables translation activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    CBP80/20-dependent translation initiation factor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001142397.2NP_001135869.1  CBP80/20-dependent translation initiation factor isoform 2

      See identical proteins and their annotated locations for NP_001135869.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an additional 5' non-coding exon, and uses an alternate donor splice site at one of the internal coding exons compared to transcript variant 1. This results in an isoform (2) with two additional amino acids compared to isoform 1.
      Source sequence(s)
      AB007887, AC048380, AK095970, BC042146, BU688371
      Consensus CDS
      CCDS45864.1
      UniProtKB/Swiss-Prot
      O43310
      Related
      ENSP00000372459.3, ENST00000382998.8
      Conserved Domains (1) summary
      pfam02854
      Location:378579
      MIF4G; MIF4G domain
    2. NM_014772.3NP_055587.1  CBP80/20-dependent translation initiation factor isoform 1

      See identical proteins and their annotated locations for NP_055587.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the more predominant transcript and encodes isoform 1.
      Source sequence(s)
      AB007887, AC048380, AK095970, BC042146, BU688371
      Consensus CDS
      CCDS11935.1
      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
      Related
      ENSP00000256413.3, ENST00000256413.8
      Conserved Domains (1) summary
      pfam02854
      Location:376577
      MIF4G; MIF4G domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      48539031..48863217
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437960.1XP_047293916.1  CBP80/20-dependent translation initiation factor isoform X1

    2. XM_047437965.1XP_047293921.1  CBP80/20-dependent translation initiation factor isoform X3

    3. XM_017026100.2XP_016881589.1  CBP80/20-dependent translation initiation factor isoform X1

      Conserved Domains (1) summary
      pfam02854
      Location:394595
      MIF4G; MIF4G domain
    4. XM_006722586.4XP_006722649.1  CBP80/20-dependent translation initiation factor isoform X2

      See identical proteins and their annotated locations for XP_006722649.1

      Conserved Domains (1) summary
      pfam02854
      Location:392593
      MIF4G; MIF4G domain
    5. XM_011526279.3XP_011524581.1  CBP80/20-dependent translation initiation factor isoform X4

      See identical proteins and their annotated locations for XP_011524581.1

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
      Conserved Domains (1) summary
      pfam02854
      Location:376577
      MIF4G; MIF4G domain
    6. XM_017026101.2XP_016881590.1  CBP80/20-dependent translation initiation factor isoform X1

      Conserved Domains (1) summary
      pfam02854
      Location:394595
      MIF4G; MIF4G domain
    7. XM_047437966.1XP_047293922.1  CBP80/20-dependent translation initiation factor isoform X3

    8. XM_047437969.1XP_047293925.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    9. XM_047437961.1XP_047293917.1  CBP80/20-dependent translation initiation factor isoform X1

    10. XM_047437964.1XP_047293920.1  CBP80/20-dependent translation initiation factor isoform X2

    11. XM_047437967.1XP_047293923.1  CBP80/20-dependent translation initiation factor isoform X3

    12. XM_047437970.1XP_047293926.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    13. XM_006722583.4XP_006722646.1  CBP80/20-dependent translation initiation factor isoform X1

      See identical proteins and their annotated locations for XP_006722646.1

      Conserved Domains (1) summary
      pfam02854
      Location:394595
      MIF4G; MIF4G domain
    14. XM_047437963.1XP_047293919.1  CBP80/20-dependent translation initiation factor isoform X2

    15. XM_006722587.4XP_006722650.1  CBP80/20-dependent translation initiation factor isoform X3

      See identical proteins and their annotated locations for XP_006722650.1

      UniProtKB/Swiss-Prot
      O43310
      Conserved Domains (1) summary
      pfam02854
      Location:378579
      MIF4G; MIF4G domain
    16. XM_005258392.5XP_005258449.1  CBP80/20-dependent translation initiation factor isoform X1

      See identical proteins and their annotated locations for XP_005258449.1

      Conserved Domains (1) summary
      pfam02854
      Location:394595
      MIF4G; MIF4G domain
    17. XM_017026102.2XP_016881591.1  CBP80/20-dependent translation initiation factor isoform X3

      UniProtKB/Swiss-Prot
      O43310
      Conserved Domains (1) summary
      pfam02854
      Location:378579
      MIF4G; MIF4G domain
    18. XM_047437968.1XP_047293924.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    19. XM_047437962.1XP_047293918.1  CBP80/20-dependent translation initiation factor isoform X1

    20. XM_006722588.5XP_006722651.1  CBP80/20-dependent translation initiation factor isoform X3

      See identical proteins and their annotated locations for XP_006722651.1

      UniProtKB/Swiss-Prot
      O43310
      Conserved Domains (1) summary
      pfam02854
      Location:378579
      MIF4G; MIF4G domain
    21. XM_047437971.1XP_047293927.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    22. XM_011526278.4XP_011524580.1  CBP80/20-dependent translation initiation factor isoform X5

      Conserved Domains (1) summary
      pfam02854
      Location:353554
      MIF4G; MIF4G domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_013171814.1 Reference GRCh38.p14 PATCHES

      Range
      24050..352487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331886.1XP_054187861.1  CBP80/20-dependent translation initiation factor isoform X1

    2. XM_054331893.1XP_054187868.1  CBP80/20-dependent translation initiation factor isoform X3

    3. XM_054331884.1XP_054187859.1  CBP80/20-dependent translation initiation factor isoform X1

    4. XM_054331889.1XP_054187864.1  CBP80/20-dependent translation initiation factor isoform X2

    5. XM_054331897.1XP_054187872.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    6. XM_054331887.1XP_054187862.1  CBP80/20-dependent translation initiation factor isoform X1

    7. XM_054331894.1XP_054187869.1  CBP80/20-dependent translation initiation factor isoform X3

    8. XM_054331898.1XP_054187873.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    9. XM_054331888.1XP_054187863.1  CBP80/20-dependent translation initiation factor isoform X1

    10. XM_054331891.1XP_054187866.1  CBP80/20-dependent translation initiation factor isoform X2

    11. XM_054331895.1XP_054187870.1  CBP80/20-dependent translation initiation factor isoform X3

    12. XM_054331899.1XP_054187874.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    13. XM_054331883.1XP_054187858.1  CBP80/20-dependent translation initiation factor isoform X1

    14. XM_054331890.1XP_054187865.1  CBP80/20-dependent translation initiation factor isoform X2

    15. XM_054331892.1XP_054187867.1  CBP80/20-dependent translation initiation factor isoform X3

    16. XM_054331885.1XP_054187860.1  CBP80/20-dependent translation initiation factor isoform X1

    17. XM_054331896.1XP_054187871.1  CBP80/20-dependent translation initiation factor isoform X3

    18. XM_054331900.1XP_054187875.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    19. XM_054331901.1XP_054187876.1  CBP80/20-dependent translation initiation factor isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      48730230..49058523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319397.1XP_054175372.1  CBP80/20-dependent translation initiation factor isoform X1

    2. XM_054319404.1XP_054175379.1  CBP80/20-dependent translation initiation factor isoform X3

    3. XM_054319395.1XP_054175370.1  CBP80/20-dependent translation initiation factor isoform X1

    4. XM_054319400.1XP_054175375.1  CBP80/20-dependent translation initiation factor isoform X2

    5. XM_054319408.1XP_054175383.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    6. XM_054319398.1XP_054175373.1  CBP80/20-dependent translation initiation factor isoform X1

    7. XM_054319405.1XP_054175380.1  CBP80/20-dependent translation initiation factor isoform X3

    8. XM_054319409.1XP_054175384.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    9. XM_054319399.1XP_054175374.1  CBP80/20-dependent translation initiation factor isoform X1

    10. XM_054319402.1XP_054175377.1  CBP80/20-dependent translation initiation factor isoform X2

    11. XM_054319406.1XP_054175381.1  CBP80/20-dependent translation initiation factor isoform X3

    12. XM_054319410.1XP_054175385.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    13. XM_054319394.1XP_054175369.1  CBP80/20-dependent translation initiation factor isoform X1

    14. XM_054319401.1XP_054175376.1  CBP80/20-dependent translation initiation factor isoform X2

    15. XM_054319403.1XP_054175378.1  CBP80/20-dependent translation initiation factor isoform X3

    16. XM_054319396.1XP_054175371.1  CBP80/20-dependent translation initiation factor isoform X1

    17. XM_054319407.1XP_054175382.1  CBP80/20-dependent translation initiation factor isoform X3

    18. XM_054319411.1XP_054175386.1  CBP80/20-dependent translation initiation factor isoform X4

      UniProtKB/Swiss-Prot
      B3KTR8, O43310, Q8IVD5
    19. XM_054319412.1XP_054175387.1  CBP80/20-dependent translation initiation factor isoform X5