Gene Gene information from NCBI Gene database.
Entrez ID 1964
Gene name Eukaryotic translation initiation factor 1A X-linked
Gene symbol EIF1AX
Synonyms (NCBI Gene)
EIF1AEIF1AP1EIF4CeIF-1AeIF-4C
Chromosome X
Chromosome location Xp22.12
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300186 3250 ENSG00000173674
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
IRGKLRKKVWINTSDIILVGLRDYQDNKADVILK
YNADEARSLKAYGELPEHAKINETDT
FGPGDDDEIQFDDIGDDDEDIDDI
Sequence length 144
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Multiple myeloma Likely pathogenic rs1603415028 RCV000984125
★★★★☆
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
DIFFERENTIATED THYROID CARCINOMA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA CTD
★★☆☆☆
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
Adenocarcinoma, Oxyphilic Adenocarcinoma BEFREE 28965201
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 26878173, 26911375, 28965201, 29968046, 31235699
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35780657 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 25417114
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma BEFREE 24423917, 26769193
★☆☆☆☆
Found in Text Mining only
Differentiated thyroid carcinoma Thyroid Carcinoma Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms Endometrial neoplasm Pubtator 35080085, 36589683 Associate
★☆☆☆☆
Found in Text Mining only
Follicular adenoma Adenoma BEFREE 29669480, 29723601
★☆☆☆☆
Found in Text Mining only
Glycogen Storage Disease IIIC Glycogen storage disease Pubtator 39378214 Associate
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma BEFREE 29846633
★☆☆☆☆
Found in Text Mining only