EIF1AX (eukaryotic translation initiation factor 1A X-linked)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1964
Gene name Gene Name - the full gene name approved by the HGNC.
Eukaryotic translation initiation factor 1A X-linked
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EIF1AX
Synonyms (NCBI Gene) Gene synonyms aliases
EIF1A, EIF1AP1, EIF4C, eIF-1A, eIF-4C
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5` end of capped RNA. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1603415028 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1373)
miRTarBase ID miRNA Experiments Reference
MIRT029813 hsa-miR-26b-5p Microarray 19088304
MIRT042730 hsa-miR-345-5p CLASH 23622248
MIRT040809 hsa-miR-18a-3p CLASH 23622248
MIRT477568 hsa-miR-548e-5p PAR-CLIP 20371350
MIRT477567 hsa-miR-5700 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0003743 Function Translation initiation factor activity IBA
GO:0003743 Function Translation initiation factor activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300186 3250 ENSG00000173674
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P47813
Protein name Eukaryotic translation initiation factor 1A, X-chromosomal (eIF-1A X isoform) (eIF1A X isoform) (Eukaryotic translation initiation factor 4C) (eIF-4C)
Protein function Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5'-untranslated region, and locates the initiation codon (PubMed:9732867). This protein enhances formation of the cap-proximal complex
PDB 1D7Q , 3ZJY , 4KZY , 4KZZ , 6YBW , 6ZMW , 6ZP4 , 7A09 , 7QP6 , 7QP7 , 7SYQ , 7SYR , 7SYS , 7SYV , 7SYW , 7SYX , 7TQL , 8OZ0 , 8PJ1 , 8PJ2 , 8PJ3 , 8PJ4 , 8PJ5 , 8PJ6 , 8PPL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01176 eIF-1a 32 → 94 Translation initiation factor 1A / IF-1 Domain
Sequence 
MPKNKGKGGKNRRRGKNENESEKRELVFKEDGQEYAQVIKMLGNGRLEAMCFDGVKRLCH
IRGKLRKKVWINTSDIILVGLRDYQDNKADVILKYNADEARSLKAYGELPEHAKINETDT
FGPGDDDEIQFDDIGDDDEDIDDI
Sequence length 144
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Multiple myeloma multiple myeloma rs1603415028 N/A
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Follicular Associate 31077238, 34075760, 34171097
Adenoma Associate 27494611, 31077238, 32236306
Carcinogenesis Associate 35780657
Carcinoma Papillary Follicular Associate 34075760
Endometrial Neoplasms Associate 35080085, 36589683
Glycogen Storage Disease IIIC Associate 39378214
Klinefelter Syndrome Associate 32959501
Melanoma Associate 27089234, 29371009, 30558566, 30605742, 35835335
Meningeal Neoplasms Associate 26769193
Neoplasm Metastasis Associate 30073324