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

Show/Hide Causal Diseases (5)

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

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Likely benign	rs78886866	RCV005938704
EEF1D-associated Neurodevelopmental Syndrome	Uncertain significance	rs140890236	RCV002227590
EEF1D-related disorder	Benign; Likely benign; Uncertain significance	rs10090485, rs548361410, rs3812448, rs4874160, rs1062391, rs372677188, rs142439099, rs777359937, rs77499941, rs145843229, rs1237552787, rs374067636, rs747638877, rs78886866, rs145499695, rs116669748, rs61757370 View all (2 more)	RCV003919812 RCV003924084 RCV003982375 RCV003982433 RCV003984495 RCV003909563 RCV003961572 RCV003963965 RCV003931654 RCV003961396 RCV003914489 RCV003949327 RCV003934687 RCV003922131 RCV003926989 RCV003916209 RCV003978370

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	35008908
Carcinoma Renal Cell	Associate	26339402
Colorectal Neoplasms	Associate	23004678
Craniosynostoses	Associate	38083972
Esophageal Squamous Cell Carcinoma	Associate	15199388
Glioma	Associate	33029523
Hereditary Breast and Ovarian Cancer Syndrome	Associate	29342219
Intellectual Disability	Associate	38083972
Lymphatic Metastasis	Stimulate	15199388
Medulloblastoma	Associate	16968546
Medulloblastoma	Stimulate	33029523
Muscle Hypotonia	Associate	38083972
Muscular Atrophy Spinal	Associate	19997636
Neoplasms	Associate	15199388, 29510727, 30381327
Neoplasms	Stimulate	29342219, 33029523
Osteosarcoma	Associate	29510727

EEF1D (eukaryotic translation elongation factor 1 delta)