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

Gene ID: 9811, updated on 9-Oct-2021

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
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
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Genomic context

See CTIF in Genome Data Viewer
Location:
18q21.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (48539031..48863217)
105.20201022 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 uncharacterized LOC107987258 Neighboring gene uncharacterized LOC105372107 Neighboring gene microRNA 4743 Neighboring gene uncharacterized LOC107985147 Neighboring gene uncharacterized LOC105372106 Neighboring gene uncharacterized LOC105372105 Neighboring gene Sharpr-MPRA regulatory region 12870 Neighboring gene SMAD family member 7

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Associated conditions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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
    O43310
    UniProtKB/TrEMBL
    A0A024R259
    Related
    ENSP00000256413.3, ENST00000256413.8
    Conserved Domains (1) summary
    pfam02854
    Location:376577
    MIF4G; MIF4G domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006722587.3XP_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
  2. XM_017026100.1XP_016881589.1  CBP80/20-dependent translation initiation factor isoform X1

    Conserved Domains (1) summary
    pfam02854
    Location:394595
    MIF4G; MIF4G domain
  3. XM_006722586.3XP_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
  4. XM_006722583.3XP_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
  5. XM_011526279.2XP_011524581.1  CBP80/20-dependent translation initiation factor isoform X4

    See identical proteins and their annotated locations for XP_011524581.1

    UniProtKB/Swiss-Prot
    O43310
    UniProtKB/TrEMBL
    A0A024R259
    Conserved Domains (1) summary
    pfam02854
    Location:376577
    MIF4G; MIF4G domain
  6. XM_005258392.4XP_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
  7. XM_017026102.1XP_016881591.1  CBP80/20-dependent translation initiation factor isoform X3

    UniProtKB/Swiss-Prot
    O43310
    Conserved Domains (1) summary
    pfam02854
    Location:378579
    MIF4G; MIF4G domain
  8. XM_006722588.4XP_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
  9. XM_017026101.1XP_016881590.1  CBP80/20-dependent translation initiation factor isoform X1

    Conserved Domains (1) summary
    pfam02854
    Location:394595
    MIF4G; MIF4G domain
  10. XM_011526278.3XP_011524580.1  CBP80/20-dependent translation initiation factor isoform X5

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_013171814.1 Reference GRCh38.p13 PATCHES

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