Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141976414	T>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (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
MIRT514733	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT514731	hsa-miR-4252	PAR-CLIP	23446348
MIRT514732	hsa-miR-1254	PAR-CLIP	23446348
MIRT514730	hsa-miR-3116	PAR-CLIP	23446348
MIRT514729	hsa-miR-661	PAR-CLIP	23446348
MIRT514728	hsa-miR-1271-3p	PAR-CLIP	23446348
MIRT514727	hsa-miR-550a-3-5p	PAR-CLIP	23446348
MIRT514726	hsa-miR-550a-5p	PAR-CLIP	23446348
MIRT514725	hsa-miR-4436b-5p	PAR-CLIP	23446348
MIRT514724	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT514723	hsa-miR-550b-2-5p	PAR-CLIP	23446348
MIRT514734	hsa-miR-149-5p	PAR-CLIP	23446348
MIRT514733	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT514731	hsa-miR-4252	PAR-CLIP	23446348
MIRT514732	hsa-miR-1254	PAR-CLIP	23446348
MIRT514730	hsa-miR-3116	PAR-CLIP	23446348
MIRT514729	hsa-miR-661	PAR-CLIP	23446348
MIRT514728	hsa-miR-1271-3p	PAR-CLIP	23446348
MIRT514727	hsa-miR-550a-3-5p	PAR-CLIP	23446348
MIRT514726	hsa-miR-550a-5p	PAR-CLIP	23446348
MIRT514725	hsa-miR-4436b-5p	PAR-CLIP	23446348
MIRT514724	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT514723	hsa-miR-550b-2-5p	PAR-CLIP	23446348
MIRT739786	hsa-miR-1468	CLIP-seq
MIRT739786	hsa-miR-1468	CLIP-seq
MIRT1983687	hsa-miR-377	CLIP-seq
MIRT2218973	hsa-miR-1273d	CLIP-seq
MIRT2218974	hsa-miR-1343	CLIP-seq
MIRT2218975	hsa-miR-205	CLIP-seq
MIRT2218976	hsa-miR-3170	CLIP-seq
MIRT2218977	hsa-miR-374c	CLIP-seq
MIRT1983687	hsa-miR-377	CLIP-seq
MIRT2218978	hsa-miR-4279	CLIP-seq
MIRT2218979	hsa-miR-4303	CLIP-seq
MIRT2218980	hsa-miR-4682	CLIP-seq
MIRT2218981	hsa-miR-615-5p	CLIP-seq
MIRT2218982	hsa-miR-634	CLIP-seq
MIRT2218983	hsa-miR-655	CLIP-seq
MIRT2218984	hsa-miR-660	CLIP-seq

Show/Hide all (39)

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
GO:0003743	Function	Translation initiation factor activity	IDA	17581632, 25849773
GO:0003743	Function	Translation initiation factor activity	IEA
GO:0003743	Function	Translation initiation factor activity	IEA
GO:0003743	Function	Translation initiation factor activity	TAS	9341143
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0005515	Function	Protein binding	IPI	16169070, 18231581, 18354498, 18599441, 18628297, 18724935, 19245811, 19748344, 22190034, 23275563, 23623729, 23725059, 24243016, 24396066, 25416956, 28514442, 32296183, 32814053, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005852	Component	Eukaryotic translation initiation factor 3 complex	IDA	17322308, 17581632, 18599441, 25849773
GO:0005852	Component	Eukaryotic translation initiation factor 3 complex	IEA
GO:0005852	Component	Eukaryotic translation initiation factor 3 complex	IPI	17322308
GO:0005852	Component	Eukaryotic translation initiation factor 3 complex	TAS	9341143
GO:0006412	Process	Translation	IEA
GO:0006413	Process	Translational initiation	IBA
GO:0006413	Process	Translational initiation	IC	17322308, 18599441
GO:0006413	Process	Translational initiation	IDA	17581632
GO:0006413	Process	Translational initiation	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016282	Component	Eukaryotic 43S preinitiation complex	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031369	Function	Translation initiation factor binding	IBA
GO:0031369	Function	Translation initiation factor binding	IEA
GO:0033290	Component	Eukaryotic 48S preinitiation complex	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0045202	Component	Synapse	IEA
GO:0071541	Component	Eukaryotic translation initiation factor 3 complex, eIF3m	IBA
GO:0071541	Component	Eukaryotic translation initiation factor 3 complex, eIF3m	IEA
GO:0075522	Process	IRES-dependent viral translational initiation	IDA	9573242
GO:0101005	Function	Deubiquitinase activity	IEA
GO:0140492	Function	Metal-dependent deubiquitinase activity	IDA	21124883

MIM	HGNC	e!Ensembl
603914	3275	ENSG00000175390

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

MATPAVPVSAPPATPTPVPAAAPASVPAPTPAPAAAPVPAAAPASSSDPAAAAAATAAPG
QTPASAQAPAQTPAPALPGPALPGPFPGGRVVRLHPVILASIVDSYERRNEGAARVIGTL
LGTVDKHSVEVTNCFSVPHNESEDEVAVDMEFAKNMYELHKKVSPNELILGWYATGHDIT
EHSVLIHEYYSREAPNPIHLTVDTSLQNGRMSIKAYVSTLMGVPGRTMGVMFTPLTVKYA
YYDTERIGVDLIMKTCFSPNRVIGLSSDLQQVGGASARIQDALSTVLQYAEDVLSGKVSA
DNTVGRFLMSLVNQVPKIVPDDFETMLNSNINDLLMVTYLANLTQSQIALNEKLVNL

Sequence length

357

Interactions

View interactions

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
EIF3F-related disorder	Likely pathogenic; Pathogenic	rs141976414	RCV003908063	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder, autosomal recessive 67	Pathogenic; Likely pathogenic	rs2133674310, rs141976414, rs1185010700	RCV002267705 RCV000754608 RCV001270450	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs141976414	RCV001255370	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs141976414	RCV002279509	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Likely pathogenic; Pathogenic	rs141976414	RCV002464306	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31527668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30573685	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18381585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26988917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26988917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	33736665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33736665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33736665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33736665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33736665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33736665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	33736665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67	Intellectual Developmental Disorder	UNIPROT_DG	30409806		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67	Intellectual Developmental Disorder	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30409806		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	33736665	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	33736665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17918192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17918192, 18381585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26988917		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18381585		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18381585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18381585	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	33736665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26988917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	30573685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17918192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	17918192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17918192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17918192, 22457825	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	17918192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	27846195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	GENOMICS_ENGLAND_DG	30409806		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 8	Spinocerebellar Ataxia	BEFREE	30206144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24678890, 25684180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EIF3F (eukaryotic translation initiation factor 3 subunit F)