EEF1A1 eukaryotic translation elongation factor 1 alpha 1
Gene ID: 1915, updated on 10-Oct-2024Gene type: protein coding
Also known as: CCS3; EF1A; PTI1; CCS-3; EE1A1; EEF-1; EEF1A; EF-Tu; EF1A1; LENG7; eEF1A-1; GRAF-1EF; EF1alpha1
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- Go to complete Gene record for EEF1A1
- Go to Variation Viewer for EEF1A1 variants
Summary
This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 6q13
- Sequence:
- Chromosome: 6; NC_000006.12 (73515750..73521032, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EEF1A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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