Gene Gene information from NCBI Gene database.
Entrez ID 8665
Gene name Eukaryotic translation initiation factor 3 subunit F
Gene symbol EIF3F
Synonyms (NCBI Gene)
EIF3S5MRT67eIF3-p47
Chromosome 11
Chromosome location 11p15.4
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs141976414 T>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
44
miRTarBase ID miRNA Experiments Reference
MIRT021009 hsa-miR-155-5p Proteomics 18668040
MIRT032018 hsa-miR-16-5p Proteomics 18668040
MIRT044466 hsa-miR-320a CLASH 23622248
MIRT044355 hsa-miR-106b-5p CLASH 23622248
MIRT514734 hsa-miR-149-5p PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001732 Process Formation of cytoplasmic translation initiation complex IEA
GO:0001732 Process Formation of cytoplasmic translation initiation complex NAS 16920360
GO:0002183 Process Cytoplasmic translational initiation IEA
GO:0003743 Function Translation initiation factor activity IBA
GO:0003743 Function Translation initiation factor activity IC 17322308, 18599441
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603914 3275 ENSG00000175390
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00303
Protein name Eukaryotic translation initiation factor 3 subunit F (eIF3f) (Deubiquitinating enzyme eIF3f) (EC 3.4.19.12) (Eukaryotic translation initiation factor 3 subunit 5) (eIF-3-epsilon) (eIF3 p47)
Protein function Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40
PDB 3J8B , 3J8C , 6YBD , 6ZMW , 6ZON , 6ZP4 , 6ZVJ , 7A09 , 7QP6 , 7QP7 , 8OZ0 , 8PJ1 , 8PJ2 , 8PJ3 , 8PJ4 , 8PJ5 , 8PJ6 , 8PPL , 8RG0 , 8XXN , 9BLN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01398 JAB 87 196 JAB1/Mov34/MPN/PAD-1 ubiquitin protease Family
PF13012 MitMem_reg 243 355 Maintenance of mitochondrial structure and function Family
Sequence
Sequence length 357
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    L13a-mediated translational silencing of Ceruloplasmin expression
Translation initiation complex formation
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EIF3F-related disorder Likely pathogenic; Pathogenic rs141976414 RCV003908063
Intellectual developmental disorder, autosomal recessive 67 Pathogenic; Likely pathogenic rs2133674310, rs141976414, rs1185010700 RCV002267705
RCV000754608
RCV001270450
Intellectual disability Likely pathogenic; Pathogenic rs141976414 RCV001255370
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs141976414 RCV002279509
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 37737258
Breast Neoplasms Inhibit 30573685
Carcinogenesis Associate 18381585
Cleft Lip Associate 33736665
Congenital Abnormalities Associate 33736665
Developmental Disabilities Associate 33736665
Epilepsy Associate 33736665
Growth Disorders Associate 33736665
Hearing Loss Associate 33736665
Hearing Loss Sensorineural Associate 33736665