Gene Gene information from NCBI Gene database.
Entrez ID 1981
Gene name Eukaryotic translation initiation factor 4 gamma 1
Gene symbol EIF4G1
Synonyms (NCBI Gene)
EIF-4G1EIF4FEIF4GEIF4GIP220PARK18
Chromosome 3
Chromosome location 3q27.1
Summary The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition o
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs111290936 C>T Risk-factor Missense variant, coding sequence variant
rs112176450 G>A,T Risk-factor Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
252
miRTarBase ID miRNA Experiments Reference
MIRT023744 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT025464 hsa-miR-34a-5p Sequencing 20371350
MIRT027930 hsa-miR-96-5p Sequencing 20371350
MIRT031636 hsa-miR-16-5p Proteomics 18668040
MIRT044854 hsa-miR-320a CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0001662 Process Behavioral fear response IEA
GO:0002191 Process Cap-dependent translational initiation TAS 25765080
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding TAS 25255371
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600495 3296 ENSG00000114867
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q04637
Protein name Eukaryotic translation initiation factor 4 gamma 1 (eIF-4-gamma 1) (eIF-4G 1) (eIF-4G1) (p220)
Protein function Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome (PubMed:29987188). Exists in two complexes, either w
PDB 1LJ2 , 1UG3 , 2W97 , 4AZA , 4F02 , 5EHC , 5EI3 , 5EIR , 5T46 , 5ZK5 , 6ZMW , 8HUJ , 8J7R , 8OZ0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02854 MIF4G 761 989 MIF4G domain Family
PF02847 MA3 1242 1354 MA3 domain Family
PF02020 W2 1520 1599 eIF4-gamma/eIF5/eIF2-epsilon Family
Sequence
MNKAPQSTGPPPAPSPGLPQPAFPPGQTAPVVFSTPQATQMNTPSQPRQHFYPSRAQPPS
SAASRVQSAAPARPGPAAHVYPAGSQVMMIPSQISYPASQGAYYIPGQGRSTYVVPTQQY
PVQPGAPGFYPGASPTEFGTYAGAYYPAQGVQQFPTGVAPTPVLMNQPPQIAPKRERKTI
RIRDPNQGGKDITEEIMSGARTASTPTPPQTGGGLEPQANGETPQVAVIVRPDDRSQGAI
IADRPGLPGPEHSPSESQPSSPSPTPSPSPVLEPGSEPNLAVLSIPGDTMTTIQMSVEES
TPISRETGEPYRLSPEPTPLAEPILEVEVTLSKPVPESEFSSSPLQAPTPLASHTVEIHE
PNGMVPSEDLEPEVESSPELAPPPACPSESPVPIAPTAQPEELLNGAPSPPAVDLSPVSE
PEEQAKEVTASMAPPTIPSATPATAPSATSPAQEEEMEEEEEEEEGEAGEAGEAESEKGG
EELLPPESTPIPANLSQNLEAAAATQVAVSVPKRRRKIKELNKKEAVGDLLDAFKEANPA
VPEVENQPPAGSNPGPESEGSGVPPRPEEADETWDSKEDKIHNAENIQPGEQKYEYKSDQ
WKPLNLEEKKRYDREFLLGFQFIFASMQKPEGLPHISDVVLDKANKTPLRPLDPTRLQGI
NCGPDFTPSFANLGRTTLSTRGPPRGGPGGELPRGPAGLGPRRSQQGPRKEPRKIIATVL
MTEDIKLNKAEKAWKPSSKRTAADKDRGEEDADGSKTQDLFRRVRSILNKLTPQMFQQLM
KQVTQLAIDTEERLKGVIDLIFEKAISEPNFSVAYANMCRCLMALKVPTTEKPTVTVNFR
KLLLNRCQKEFEKDKDDDEVFEKKQKEMDEAATAEERGRLKEELEEARDIARRRSLGNIK
FIGELFKLKMLTEAIMHDCVVKLLKNHDEESLECLCRLLTTIGKDLDFEKAKPRMDQYFN
QMEKIIKEKKTSSRIRFMLQDVLDLRGSN
WVPRRGDQGPKTIDQIHKEAEMEEHREHIKV
QQLMAKGSDKRRGGPPGPPISRGLPLVDDGGWNTVPISKGSRPIDTSRLTKITKPGSIDS
NNQLFAPGGRLSWGKGSSGGSGAKPSDAASEAARPATSTLNRFSALQQAVPTESTDNRRV
VQRSSLSRERGEKAGDRGDRLERSERGGDRGDRLDRARTPATKRSFSKEVEERSRERPSQ
PEGLRKAASLTEDRDRGRDAVKREAALPPVSPLKAALSEEELEKKSKAIIEEYLHLNDMK
EAVQCVQELASPSLLFIFVRHGVESTLERSAIAREHMGQLLHQLLCAGHLSTAQYYQGLY
EILELAEDMEIDIPHVWLYLAELVTPILQEGGVP
MGELFREITKPLRPLGKAASLLLEIL
GLLCKSMGPKKVGTLWREAGLSWKEFLPEGQDIGAFVAEQKVEYTLGEESEAPGQRALPS
EELNRQLEKLLKEGSSNQRVFDWIEANLSEQQIVSNTLVRALMTAVCYSAIIFETPLRVD
VAVLKARAKLLQKYLCDEQKELQALYALQALVVTLEQPPNLLRMFFDALYDEDVVKEDAF
YSWESSKDPAEQQGKGVALKSVTAFFKWLREAEEESDHN
Sequence length 1599
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Viral myocarditis   ISG15 antiviral mechanism
L13a-mediated translational silencing of Ceruloplasmin expression
mTORC1-mediated signalling
Deadenylation of mRNA
AUF1 (hnRNP D0) binds and destabilizes mRNA
Translation initiation complex formation
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 26951381
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 22767218
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 29880060
★☆☆☆☆
Found in Text Mining only
Akinesia Akinesia HPO_DG
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31043796
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia BEFREE 31268247
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia Pubtator 31268247 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal Dominant Parkinsonism Parkinsonian disease BEFREE 24704100
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15193258, 19755858, 22484424, 25593313, 26936396, 27771839, 28599480, 31106142
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 15193258, 18426977, 23112151, 25593313, 27026610, 27771839, 33693953, 36551184 Associate
★☆☆☆☆
Found in Text Mining only