EEF1D
eukaryotic translation elongation factor 1 delta
Summary
This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]
Known Variants84 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199856046 | 8:144,661,982 | C/T | — | uncertain significance |
| rs1364060781 | 8:144,662,181 | C/T | — | uncertain significance |
| rs143483165 | 8:144,662,198 | G/C | — | uncertain significance |
| rs10090485 | 8:144,662,230 | T/C | — | benign |
| rs150802924 | 8:144,662,283 | C/T | — | uncertain significance |
| rs149772856 | 8:144,662,333 | C/T | — | uncertain significance |
| rs780189803 | 8:144,662,334 | G/A | — | uncertain significance |
| rs548361410 | 8:144,662,335 | C/G | — | benign |
| rs1062391 | 8:144,662,353 | G/A | — | benign |
| rs145499695 | 8:144,662,362 | C/T | — | likely benign |
| rs2537357242 | 8:144,662,369 | T/C | — | uncertain significance |
| rs2537378320 | 8:144,662,681 | T/C | — | uncertain significance |
| rs142439099 | 8:144,662,741 | C/A | — | likely benign |
| rs140041705 | 8:144,662,764 | C/T | — | uncertain significance |
| rs771442790 | 8:144,662,787 | C/G | — | uncertain significance |
| rs144710704 | 8:144,662,832 | G/A | — | likely benign |
| rs199818405 | 8:144,662,840 | C/G | — | uncertain significance |
| rs2537393597 | 8:144,662,845 | G/A | — | uncertain significance |
| rs763068704 | 8:144,662,881 | C/T | — | uncertain significance |
| rs202002927 | 8:144,662,894 | C/T | — | uncertain significance |
| rs1347285757 | 8:144,663,223 | C/T | — | likely pathogenic |
| rs200186152 | 8:144,663,247 | G/A | — | uncertain significance |
| rs368141371 | 8:144,663,258 | G/A | — | uncertain significance |
| rs763950443 | 8:144,663,274 | C/T | — | uncertain significance |
| rs750059572 | 8:144,663,280 | G/C | — | uncertain significance |
| rs1447049807 | 8:144,663,405 | G/A | — | uncertain significance |
| rs768408455 | 8:144,663,431 | C/A | — | uncertain significance |
| rs372677188 | 8:144,663,508 | A/G | — | likely benign |
| rs781224000 | 8:144,668,436 | G/A | — | uncertain significance |
| rs116669748 | 8:144,668,938 | G/A | — | benign |
| rs140890236 | 8:144,668,958 | C/T | — | uncertain significance |
| rs1826751784 | 8:144,669,015 | T/C | — | likely pathogenic |
| rs145843229 | 8:144,671,194 | C/T | — | benign |
| rs762405698 | 8:144,671,200 | C/G | — | uncertain significance |
| rs4874160 | 8:144,671,244 | C/A | — | benign |
| rs1329330886 | 8:144,671,246 | G/A | — | uncertain significance |
| rs745697956 | 8:144,671,262 | G/T | — | uncertain significance |
| rs1318950684 | 8:144,671,285 | C/T | — | uncertain significance |
| rs1038846640 | 8:144,671,287 | T/G | — | uncertain significance |
| rs1563978827 | 8:144,671,304 | C/T | — | pathogenic |
| rs369780574 | 8:144,671,375 | G/A | — | conflicting classifications of pathogenicity |
| rs373932200 | 8:144,671,377 | C/T | — | uncertain significance |
| rs1024298347 | 8:144,671,380 | A/G | — | likely benign |
| rs78886866 | 8:144,671,390 | G/A | — | likely benign |
| rs767674505 | 8:144,671,410 | C/T | — | uncertain significance |
| rs746462587 | 8:144,671,428 | C/T | — | uncertain significance |
| rs763452313 | 8:144,671,438 | G/A | — | uncertain significance |
| rs201134490 | 8:144,671,447 | C/T | — | likely benign |
| rs77499941 | 8:144,671,456 | C/T | — | likely benign |
| rs750661477 | 8:144,671,461 | C/T | — | uncertain significance |
| rs751148186 | 8:144,671,488 | G/A | — | uncertain significance |
| rs756800060 | 8:144,671,489 | G/A | — | uncertain significance |
| rs374067636 | 8:144,671,496 | G/A | — | likely benign |
| rs764170351 | 8:144,671,563 | C/T | — | uncertain significance |
| rs2537910675 | 8:144,671,573 | C/A | — | uncertain significance |
| rs2537910950 | 8:144,671,576 | G/A | — | uncertain significance |
| rs760761369 | 8:144,671,633 | C/T | — | likely benign |
| rs751618604 | 8:144,671,649 | C/G | — | uncertain significance |
| rs770973625 | 8:144,671,663 | G/C | — | uncertain significance |
| rs138259793 | 8:144,671,689 | G/C | — | uncertain significance |
| rs143856298 | 8:144,671,705 | C/A | — | likely benign |
| rs148745450 | 8:144,671,776 | A/G | — | uncertain significance |
| rs141488516 | 8:144,671,777 | C/T | — | uncertain significance |
| rs150876508 | 8:144,671,787 | G/A | — | benign |
| rs34365735 | 8:144,671,848 | T/C | — | benign |
| rs764663548 | 8:144,671,861 | C/A | — | uncertain significance |
| rs1032810554 | 8:144,671,888 | C/T | — | uncertain significance |
| rs1237552787 | 8:144,671,898 | G/A | — | likely benign |
| rs35331982 | 8:144,671,905 | G/A | — | benign |
| rs774793383 | 8:144,671,921 | C/G | — | uncertain significance |
| rs3812448 | 8:144,671,922 | G/A | — | benign |
| rs146677657 | 8:144,671,945 | G/A | — | uncertain significance |
| rs61757370 | 8:144,671,955 | C/T | — | benign |
| rs762354014 | 8:144,671,963 | C/T | — | uncertain significance |
| rs369940305 | 8:144,671,969 | C/T | — | uncertain significance |
| rs34547530 | 8:144,672,047 | C/T | — | benign |
| rs2537967967 | 8:144,672,065 | C/T | — | uncertain significance |
| rs775663686 | 8:144,672,119 | C/T | — | uncertain significance |
| rs144264495 | 8:144,672,143 | C/T | — | uncertain significance |
| rs777359937 | 8:144,672,147 | C/T | — | likely benign |
| rs746432478 | 8:144,672,161 | C/T | — | uncertain significance |
| rs370528981 | 8:144,672,175 | C/T | — | uncertain significance |
| rs749651006 | 8:144,672,204 | G/T | — | uncertain significance |
| rs9657360 | 8:144,676,862 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.