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FLASH GENE

Symbol

ELP4

contributors: mct/npt - updated : 27-02-2017

HGNC name	elongation protein 4 homolog (S. cerevisiae)
HGNC id	1171

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AN2 aniridia 2
Location	11p13      Physical location : 31.531.296 - 31.805.327
Synonym name	chromosome 11 open reading frame 19
	PAX6 neighbor gene protein
Synonym symbol(s)	PAXNEB, PAX6NEB, C11orf19, FLJ20498, dJ68P15A.1, AN, AN2, PAX6NEB, hELP4

DNA

TYPE	functioning gene
SPECIAL FEATURE	opposite orientation
text	opposite orientation with PAX6
STRUCTURE	280.56 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

cytosine-phosphate-guanine/HTF

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_019040 10 - 1584 NP_061913 - 424 - 2002 11714725 NM_001288725 11 - 2483 NP_001275654 - 476 - 2002 11714725 NM_001288726 12 - 2769 NP_001275655 - 535 - 2002 11714725

EXPRESSION

Type

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 liver         Nervous brain         Reproductive male system prostate       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to yeast elp4

Homologene

FAMILY

ELP4 family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm

basic FUNCTION	having histone acetyltransferase activity with specificity to histone H3 and, to a much lesser extent, to histone H4 (Kim 2002)
	ELP4, ELP5, and ELP6--are required for histone acetyltransferase (HAT) activity, and Elongator binds to both naked and nucleosomal DNA
	involved in transcription and tRNA modification (Strug 2009)
	ELP1, ELP2, ELP3, ELP4, ELP5, ELP6 plays vital roles in gene regulation
	promotes transcript elongation and protein translation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the elongator complex, involved in cell cycle (Gu 2009)
	core Elongator complex formed by IKBKAP, ELP2, and ELP3 was rather stable, whereas ELP4, ELP5, and ELP6 might loosely contact and work together with the core Elongator to regulate cell functions

INTERACTION

DNA

RNA

small molecule

protein	ELP6 acts as a bridge to assemble ELP4 and ELP5 6)
	ELP5 is required for the integrity of Elongator and directly connects ELP3 to ELP4
	ELP4 promoted TCF7L2 expression by promoting H3K27ac enrichment in the TCF7L2 promoter, while ZEB2 promoted TCF7L2 ubiquitination degradation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AN2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     associated with language impairment, autism spectrum disorder, and mental retardation tumoral     --over   of ELP3 or ELP4 promoted the migration and invasion of HCC cells in hepatocellular carcinoma, which was abolished when either ELP3 or ELP4 was silence

Susceptibility

to rolandic epilepsy

Variant & Polymorphism other	polymorphisms increasing the risk of to rolandic epilepsy (Strug 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS