EIF1AX eukaryotic translation initiation factor 1A X-linked [Homo sapiens (human)] - Gene

Summary

Official Symbol: EIF1AXprovided by HGNC
Official Full Name: eukaryotic translation initiation factor 1A X-linkedprovided by HGNC
Primary source: HGNC:HGNC:3250
See related: Ensembl:ENSG00000173674 MIM:300186; AllianceGenome:HGNC:3250
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EIF1A; EIF4C; eIF-1A; eIF-4C; EIF1AP1
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]
Expression: Ubiquitous expression in thyroid (RPKM 20.5), endometrium (RPKM 20.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (20124525..20141838, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (19707417..19724730, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (20142643..20159956, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

XPO1-Mediated EIF1AX Cytoplasmic Relocation Promotes Tumor Migration and Invasion in Endometrial Carcinoma.
Title: XPO1-Mediated EIF1AX Cytoplasmic Relocation Promotes Tumor Migration and Invasion in Endometrial Carcinoma.
EIF1AX mutation in thyroid tumors: a retrospective analysis of cytology, histopathology and co-mutation profiles.
Title: EIF1AX mutation in thyroid tumors: a retrospective analysis of cytology, histopathology and co-mutation profiles.
Clinicopathological features and outcomes of thyroid nodules with EIF1AX mutations.
Title: Clinicopathological features and outcomes of thyroid nodules with EIF1AX mutations.
eIF5B and eIF1A reorient initiator tRNA to allow ribosomal subunit joining.
Title: eIF5B and eIF1A reorient initiator tRNA to allow ribosomal subunit joining.
Long noncoding RNA EIF1AX-AS1 promotes endometrial cancer cell apoptosis by affecting EIF1AX mRNA stabilization.
Title: Long noncoding RNA EIF1AX-AS1 promotes endometrial cancer cell apoptosis by affecting EIF1AX mRNA stabilization.
Characterization and Clinical Significance of EIF1AX Mutations and Co-Mutations in Cytologically Indeterminate Thyroid Nodules: A 5-Year Retrospective Analysis.
Title: Characterization and Clinical Significance of EIF1AX Mutations and Co-Mutations in Cytologically Indeterminate Thyroid Nodules: A 5-Year Retrospective Analysis.
Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients.
Title: Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients.
Transcriptional repression of p21 by EIF1AX promotes the proliferation of breast cancer cells.
Title: Transcriptional repression of p21 by EIF1AX promotes the proliferation of breast cancer cells.
Five clusters with distinct copy number variations patterns and concomitant mutations in BAP1, SF3B1, or EIF1AX were identified. Incorporating clinico-histopathological, cluster and mutation data in the analysis results in good performance for uveal melanoma-related disease free survival prediction.
Title: Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients.
Regarding time to clinically detected metastases, the first 2 peaks appear to be associated with BAP1-mutated tumors and the late peak to SF3B1-mutated tumors. None of the tumors with only an EIF1AX mutation metastasized.
Title: Association of Uveal Melanoma Metastatic Rate With Stochastic Mutation Rate and Type of Mutation.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

228D12_T7 (e-PCR)
- UniSTS:259344

G20695 (e-PCR)
- UniSTS:36114

A006C12 (e-PCR)
- UniSTS:36115

SHGC-74291 (e-PCR)
- UniSTS:78105

RH64553 (e-PCR)
- UniSTS:83998

WI-7823 (e-PCR)
- UniSTS:66239

G34989 (e-PCR)
- UniSTS:24777

RH18177 (e-PCR)
- UniSTS:71135

D1S3346 (e-PCR)
- UniSTS:48871

RH38723 (e-PCR)
- UniSTS:87531

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	IEA Inferred from Electronic Annotation more info
enables translation factor activity, RNA binding	TAS Traceable Author Statement more info	PubMed
enables translation initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in ribosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in translational initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in translational initiation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of eukaryotic 43S preinitiation complex	IDA Inferred from Direct Assay more info	PubMed
part_of eukaryotic 43S preinitiation complex	TAS Traceable Author Statement more info	PubMed
part_of eukaryotic 48S preinitiation complex	IDA Inferred from Direct Assay more info	PubMed
part_of multi-eIF complex	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: eukaryotic translation initiation factor 1A, X-chromosomal

Names: Putative eukaryotic translation initiation factor 1A; eIF1A X isoform; eukaryotic translation initiation factor 1A, X chromosome; eukaryotic translation initiation factor 4C

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.