EEF1D
Elongation factor 1-delta
Also known as: EF-1D, EF1D_HUMAN, FLJ20897
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P29692
- Gene
- EEF1D
- Ensembl
- ENSG00000104529
- Chromosome
- 8
- Canonical length
- 281 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
281 residues, UniProt reviewed canonical sequence.
>P29692|EEF1D
1 MATNFLAHEK IWFDKFKYDD AERRFYEQMN GPVAGASRQE NGASVILRDI ARARENIQKS
61 LAGSSGPGAS SGTSGDHGEL VVRIASLEVE NQSLRGVVQE LQQAISKLEA RLNVLEKSSP
121 GHRATAPQTQ HVSPMRQVEP PAKKPATPAE DDEDDDIDLF GSDNEEEDKE AAQLREERLR
181 QYAEKKAKKP ALVAKSSILL DVKPWDDETD MAQLEACVRS IQLDGLVWGA SKLVPVGYGI
241 RKLQIQCVVE DDKVGTDLLE EEITKFEEHV QSVDIAAFNK ILocalizationUniProt · AlphaFold · HPA
Whether an antibody against EEF1D can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 985 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 985 nTPM
- ovary: 820 nTPM
- skeletal muscle: 771 nTPM
- colon: 613 nTPM
- heart muscle: 573 nTPM
- cervix: 520 nTPM
Single-cell type
- gastric progenitor cells: 2,151 nCPM
- gastric chief cells: 1,529 nCPM
- late spermatids: 1,410 nCPM
- decidual stromal cells: 1,386 nCPM
- mucous neck cells: 1,273 nCPM
- breast secretory cells: 1,271 nCPM
Immune cell
- total PBMC: 1,841 nTPM
- naive B-cell: 1,268 nTPM
- naive CD4 T-cell: 1,218 nTPM
- memory B-cell: 1,200 nTPM
- MAIT T-cell: 1,020 nTPM
- T-reg: 1,019 nTPM
Brain region
- white matter: 181 nTPM
- medulla oblongata: 166 nTPM
- basal ganglia: 162 nTPM
- choroid plexus: 155 nTPM
- pons: 139 nTPM
- spinal cord: 138 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EEF1D.
Disease | AllUniProt
Conditions EEF1D is implicated in, by any mechanism.
- Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language (NEDTCHAL) MIM:621150
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 217 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
- EEF1D-related intellectual disabilities
- Autosomal recessive non-syndromic intellectual disability
- Moyamoya angiopathy
- Neurodevelopmental disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.84
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.08
- DepMap mean gene effect
- -0.19
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to heat
- cellular response to ionizing radiation
- cytoplasmic translational elongation
- positive regulation of transcription by RNA polymerase II
- translational elongation
Molecular functions
- cadherin binding
- DNA binding
- DNA-binding transcription factor binding
- guanyl-nucleotide exchange factor activity
- heat shock protein binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- translation elongation factor activity
- translation factor activity, RNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Translation elongation factor EF1B, beta/delta chains, conserved site
- Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain
- Translation elongation factor EF1B/small ribosomal subunit protein bS6
- Elongation factor 1 beta central acidic region, eukaryote
- Translation elongation factor eEF-1beta-like superfamily
- Translation elongation factor EF1B, beta/delta subunit
- EF-1 guanine nucleotide exchange domain
- Eukaryotic elongation factor 1 beta central acidic region
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EEF1D in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EEF1D as an antibody target. Whether an autoantibody or antibody against EEF1D could matter depends on whether native EEF1D is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EEF1D is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label EEF1D as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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