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FLASH GENE

Symbol

EEF1D

contributors: mct - updated : 08-04-2014

HGNC name	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)
HGNC id	3211

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8q24.3      Physical location : 144.661.866 - 144.679.845
Synonym name	guanine nucleotide exchange protein
	antigen NY-CO-4
	deltaEF1
Synonym symbol(s)	EF-1D, FLJ20897, FP1047

DNA

TYPE	functioning gene
STRUCTURE	17.98 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032378 10 - 2497 NP_115754 71.42 647 - 2002 11829477 encoding for the longest product NM_001960 8 splicing 1276 NP_001951 30.99 281 - 2002 11829477 an 8 exons variant lacking exons 2 & 3 encoding for the shortest product NM_001195203 8 - 1219 NP_001182132 - 262 - 2002 11829477 NM_001130056 7 - 1204 NP_001123528 - 257 - 2002 11829477 NM_001130055 9 - 1452 NP_001123527 - 281 - 2002 11829477 NM_001130053 10 - 2381 NP_001123525 - 647 - 2002 11829477 NM_001130057 8 - 1458 NP_001123529 - 281 - 2002 11829477

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly   stomach       highly Endocrine pancreas       moderately Lymphoid/Immune tonsils       predominantly Reproductive female system breast mammary gland   highly   female system ovary     highly   male system prostate     moderately Respiratory lung       moderately Skin/Tegument skin       highly Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Muscular striatum skeletal   moderately

cell lineage
cell lines
fluid/secretion	lymph

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an eukaryotic elongation factor 1 (EF-1) guanine nucleotide exchange domain
	a conserved consensus phosphorylation site for the mitotic cyclin-dependent kinase 1 required for its posttranslational modification during mitosis, resulting in lower affinity to its substrate EEF1A

HOMOLOGY

interspecies	homolog to rattus Eef1d (87.15 pc)
	homolog to murine Eef1d (85.47 pc)

intraspecies

homolog to EEF1B

Homologene

FAMILY

EF-1-beta/EF-1-delta family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus

basic FUNCTION	having translation factor activity and involved in proline biosynthesis
	encoding a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome
	plays a key role in mediating BMP6-induced transcriptional activation of CDH1 in breast cancer cells
	is likely the switch through which BMP6 restores CDH1-mediated cell-to-cell adhesion and prevents breast cancer metastasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

4 subunits: alpha, beta, delta, and gamma

INTERACTION

DNA

RNA

small molecule

protein	interacting with HIV-1 Tat
	TPT1
	SIAH1-interacting protein and EFF1D functions as a novel negative regulator of SIAH1
	CSNK2A1 substrate for CSNK2A1 phosphorylation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in cancerous compared to noncancerous oesophageal tissues, and correlated with lymph node metastases, advanced disease stages and poorer prognosis in oesophageal carcinoma tumoral     --over   in medulloblastoma is adversely associated with with adverse outcome

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS