Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1936
Gene name	Eukaryotic translation elongation factor 1 delta
Gene symbol	EEF1D
Synonyms (NCBI Gene)	EF-1DEF1DFP1047NEDTCHAL
Chromosome	8
Chromosome location	8q24.3
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 i

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1563978827	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT045464	hsa-miR-149-5p	CLASH	23622248
MIRT045464	hsa-miR-149-5p	CLASH	23622248
MIRT044945	hsa-miR-186-5p	CLASH	23622248
MIRT038906	hsa-miR-93-3p	CLASH	23622248
MIRT038906	hsa-miR-93-3p	CLASH	23622248
MIRT440749	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440749	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1982199	hsa-miR-1204	CLIP-seq
MIRT1982200	hsa-miR-1207-5p	CLIP-seq
MIRT1982201	hsa-miR-3155	CLIP-seq
MIRT1982202	hsa-miR-3155b	CLIP-seq
MIRT1982203	hsa-miR-329	CLIP-seq
MIRT1982204	hsa-miR-362-3p	CLIP-seq
MIRT1982205	hsa-miR-3918	CLIP-seq
MIRT1982206	hsa-miR-3941	CLIP-seq
MIRT1982207	hsa-miR-4264	CLIP-seq
MIRT1982208	hsa-miR-4512	CLIP-seq
MIRT1982209	hsa-miR-4736	CLIP-seq
MIRT1982210	hsa-miR-4763-3p	CLIP-seq
MIRT1982211	hsa-miR-4797-3p	CLIP-seq
MIRT1982212	hsa-miR-484	CLIP-seq
MIRT1982213	hsa-miR-510	CLIP-seq
MIRT1982214	hsa-miR-603	CLIP-seq
MIRT1982215	hsa-miR-622	CLIP-seq
MIRT1982199	hsa-miR-1204	CLIP-seq
MIRT1982200	hsa-miR-1207-5p	CLIP-seq
MIRT1982203	hsa-miR-329	CLIP-seq
MIRT1982204	hsa-miR-362-3p	CLIP-seq
MIRT1982205	hsa-miR-3918	CLIP-seq
MIRT1982206	hsa-miR-3941	CLIP-seq
MIRT1982207	hsa-miR-4264	CLIP-seq
MIRT1982208	hsa-miR-4512	CLIP-seq
MIRT1982209	hsa-miR-4736	CLIP-seq
MIRT1982210	hsa-miR-4763-3p	CLIP-seq
MIRT1982211	hsa-miR-4797-3p	CLIP-seq
MIRT1982214	hsa-miR-603	CLIP-seq
MIRT1982215	hsa-miR-622	CLIP-seq
MIRT1982199	hsa-miR-1204	CLIP-seq
MIRT1982200	hsa-miR-1207-5p	CLIP-seq
MIRT1982203	hsa-miR-329	CLIP-seq
MIRT1982204	hsa-miR-362-3p	CLIP-seq
MIRT1982205	hsa-miR-3918	CLIP-seq
MIRT1982206	hsa-miR-3941	CLIP-seq
MIRT1982208	hsa-miR-4512	CLIP-seq
MIRT1982209	hsa-miR-4736	CLIP-seq
MIRT1982210	hsa-miR-4763-3p	CLIP-seq
MIRT1982214	hsa-miR-603	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	21597468
GO:0001650	Component	Fibrillar center	IDA
GO:0002182	Process	Cytoplasmic translational elongation	NAS	21597468
GO:0003677	Function	DNA binding	IEA
GO:0003746	Function	Translation elongation factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005515	Function	Protein binding	IPI	16169070, 16189514, 17500595, 20195357, 21597468, 21988832, 21994455, 25416956, 25609649, 25959826, 28514442, 29128334, 30021884, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	21597468
GO:0005634	Component	Nucleus	IDA	21597468
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	8743958, 21597468
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	8743958
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005853	Component	Eukaryotic translation elongation factor 1 complex	IEA
GO:0005853	Component	Eukaryotic translation elongation factor 1 complex	TAS	8334168
GO:0006412	Process	Translation	IEA
GO:0006414	Process	Translational elongation	IBA
GO:0006414	Process	Translational elongation	IEA
GO:0008135	Function	Translation factor activity, RNA binding	TAS	8334168
GO:0031072	Function	Heat shock protein binding	IPI	21597468
GO:0034605	Process	Cellular response to heat	IMP	21597468
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21597468
GO:0071479	Process	Cellular response to ionizing radiation	IDA	8168075
GO:0140297	Function	DNA-binding transcription factor binding	IPI	21597468

MIM	HGNC	e!Ensembl
130592	3211	ENSG00000104529

P29692

Protein name

Elongation factor 1-delta (EF-1-delta) (Antigen NY-CO-4)

Protein function

[Isoform 1]: EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP, regenerating EF-1-alpha for another round of transfer of aminoacyl-tRNAs to the ribosome.; [Isoform 2]: Regulates induction of heat-shock-r

PDB

2MVM , 2MVN , 2N51 , 5JPO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10587	EF-1_beta_acid	159 → 186	Eukaryotic elongation factor 1 beta central acidic region	Domain
PF00736	EF1_GNE	197 → 281	EF-1 guanine nucleotide exchange domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 2 is specifically expressed in brain, cerebellum and testis.

Sequence

MATNFLAHEKIWFDKFKYDDAERRFYEQMNGPVAGASRQENGASVILRDIARARENIQKS
LAGSSGPGASSGTSGDHGELVVRIASLEVENQSLRGVVQELQQAISKLEARLNVLEKSSP
GHRATAPQTQHVSPMRQVEPPAKKPATPAEDDEDDDIDLFGSDNEEEDKEAAQLREERLR
QYAEKKAKKPALVAKSSILLDVKPWDDETDMAQLEACVRSIQLDGLVWGASKLVPVGYGI
RKLQIQCVVEDDKVGTDLLEEEITKFEEHVQSVDIAAFNKI

Sequence length

281

Interactions

View interactions

	Reactome
			Eukaryotic Translation Elongation

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)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive non-syndromic intellectual disability	Pathogenic	rs1563978827	RCV000758205	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moyamoya angiopathy	Likely pathogenic	rs1826751784	RCV004704497	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic syndrome associated with isolated del(5q)	Likely pathogenic	rs1347285757	RCV003988985	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs1333517857	RCV002471978	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language	Pathogenic	rs1563978827	RCV005251218	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EEF1D-associated Neurodevelopmental Syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EEF1D-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acne Vulgaris	Acne	GWASCAT_DG	29855537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	16968546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35008908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26339402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	16968546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23004678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	38083972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15199388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	15199388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33029523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	29342219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30787422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	38083972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31639400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	15199388	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15199388, 29510727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17997862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	16968546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	16968546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	16968546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	33029523	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	19997636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29510727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30370994		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	29510727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29510727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	19997636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26823560		★★★★★ ★☆☆☆☆ Found in Text Mining only

EEF1D (eukaryotic translation elongation factor 1 delta)