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FLASH GENE

Symbol

ELP1

contributors: mct/shn - updated : 07-05-2019

HGNC name	elongator complex protein 1
HGNC id	5959

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	66.82 kb     37 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D9S1801 - D9S261 - IKBKAP - D9S1677 - D9S1835 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003640 37 - 6129 NP_003631 150 1332 - 2018 29701768 also called FL NM_001330749 35 - 5939 NP_001317678 - 983 - 2018 29701768 NM_001318360 37 - 5988 NP_001305289 - 1218 - 2018 29701768

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	five WD-like repeats
	consensus serine/threonine kinase phosphorylation site
	C-terminal portion, (ELP1-CT), is sufficient for full-length Elp1 dimerization

HOMOLOGY

interspecies	ortholog to Ikbkap, Mus musculus
	ortholog to Ikbkap, Rattus norvegicus
	ortholog to ikbkap, danio rerio
	ortholog to IKBKAP, Pan troglodytes

Homologene

FAMILY

ELP1/IKA1 family

CATEGORY

chaperone/stress , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus
text	membrane ruffles

basic FUNCTION	role in the regulation of activation of the mammalian stress response via the c-Jun N-terminal kinase (JNK)-signaling pathway
	may act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK)
	may play a role in oligodendrocyte differentiation and/or myelin formation
	role in cell adhesion and migration
	crucial for both vascular and neural development during embryogenesis and that protein function is conserved between mouse and human
	involved in cytoskeleton regulation
	involved in cell adhesion and migration through cytosolic interactions
	involved in regulating the expression of the microtubules (MT) destabilizing protein STMN2, and STMN2 elevation observed in IKBKAP-deficient cells can alter the MT organization and dynamics which could play a pivotal role in familial dysautonomia
	plays pleiotropic roles in both the peripheral and central nervous systems
	novel function of ELP1 in meiosis, suggesting that ELP1 contributes to this process partly by exerting its effect on transcription and tRNA modification
	ELP1, ELP2, ELP3, ELP4, ELP5, ELP6 plays vital roles in gene regulation
	encoding the scaffolding protein for the Elongator complex

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component	component of the IKK (Ikappa B kinase)complex
	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	NF-kappaB-inducing kinase, NIK and cytokine-activated IKB kinases, IKKs
	STMN2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HSAN3 , FD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in Hirschsprung disease, and association was stronger in patients carrying RET no coding sequence mutations

Susceptibility

to bronchial asthma

Variant & Polymorphism SNP	Cys1072 ser/Pro1158 Leu

Candidate gene
Marker
Therapy target	treatment of Familial dysautonomia lymphoblast cell lines with kinetin increases IKBKAP mRNA and IKAP protein to normal levels
	kinetin is capable to alter the IKBKAP splicing in the transgenic mice carrying the Familial dysautonomia BAC containing the the IVS20+6T>C splice site mutation and to correct the IKBKAP splicing in all major tissues including the brain
	System Type Disorder Pubmed dermatology     kinetin therapeutic in dysautonomia and perhaps in other splicing disorder

ANIMAL & CELL MODELS

	various RNA-interference-based depletions of IKAP lead to defective adhesion and migration in several cell types, including rat primary neurons
	in the mouse model carrying the complete human IKBKAP locus with the FD IVS20+6T-->C splice mutation, the mutant IKBKAP transgene is misspliced in this model in a tissue-specific manner that replicates the pattern seen in familial dysautonomia patient tissues
	Depletion of IKAP resulted in a significant decrease in filamin A localization in membrane ruffles and defective actin cytoskeleton organization
	mouse lines caring the human IVS20+6T>C splice site mutation in the IKBKAP gene exhibit the same tissue-specific aberrant splicing patterns as seen in Familial dysautonomia patients