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FLASH GENE

Symbol

EPB41L3

contributors: mct - updated : 09-09-2011

HGNC name	erythrocyte membrane protein band 4.1-like 3
HGNC id	3380

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	18p11.31      Physical location : 5.392.387 - 5.543.986
Synonym name	differentially expressed in adenocarcinoma of the lung protein
	band 4.1-like protein 3
Synonym symbol(s)	DAL1, 4.1B, KIAA0987, E4L3, DAL-1

DNA

TYPE	functioning gene
STRUCTURE	151.60 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure	two transcriptional promoters at far upstream alternative exons 1A and 1B, and show that their respective transcripts splice differentially to exon 2'/2 in a manner that determines mRNA coding capacity
	exon 17D included only in the brain

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 2 - - - isoform 2 108 - predominantly in kidney Gascard (2004) also called 4.1B Ia NM_012307 23 - 4446 NP_036439 125 1087 predominantly in brain Gascard (2004) also called 4.1B Ib variant 3 - - - 200 - - 2009 19299464 may have an essential role in maintaining the structure of the Golgi and in assembly of a subset of membrane proteins

EXPRESSION

Type

widely

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 intestine       lowly   liver         Nervous brain       highly Reproductive female system ovary     moderately Homo sapiens   male system testis     lowly Urinary kidney         Mus musculus

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains	a N terminal membrane FERM domain (residues 110–391)
	a hydrophilic FERM adjacent domain (residues 394–513), interacting with the cytoplasmic domain of glycophorin C
	a spectrin and actin binding domain (residues 514–860)
	a conserved C terminus

HOMOLOGY

interspecies

homolog to Drosophila 4-1

intraspecies

homolog to merlin

Homologene

FAMILY

protein 4-1 family

CATEGORY

structural protein , tumor suppressor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	critical growth regulator in the pathogenesis of meningioma
	playing a critical role in the suppression of lung tumor formation and metastasis
	anchoring these axonal proteins (CNTNAP1, CNTNAP2) to the actin-based cytoskeleton in central and peripheral myelinated axons
	play a role in cell adhesion and the structure and regulation of the membrane skeleton
	cascade of CADM4 and EPB41L3 plays an important role in normal cell adhesion of the proximal tubules

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forms a tripartite protein complex with CADM1 and MPP1, MPP2, MPP3

INTERACTION

DNA

RNA

small molecule

protein	binding CNTNAP1, CNTNAP2
	interacting with MPP1, MPP2, MPP3, and with CADM1 mainly through PDZ-binding motif of CADM1 and the core region of FERM domain in EPB41L3, respectively (Sakurai-Yageta (2009)
	CADM1 recruits NMDA receptors via protein EPB41L3
	binds to CADM1 through conserved residues in a well defined hydrophobic pocket in the structural C-lobe of the EPB41L3 FERM domain

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   differentially expressed in adenocarcinoma of the lung and in meningioma atypical or anaplastic (sporadic) tumoral     --low   in meningioma tumoral   LOH     in breast cancer in progression tumoral         extensively methylated in ovarian cancer cell lines and primary ovarian tumors compared with normal tissues

Susceptibility

to meningioma

Variant & Polymorphism other	low mutational frequency in the neoplastic transformation of meningiomas, and other inactivating mechanisms, such as epigenetic changes, may participate in EPB41L3 silencing

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive prostate target for prostate cancer therapy cancer reproductive ovary reexpression of EPB41L3 induces extensive apoptotic cell death in ovarian cancers

ANIMAL & CELL MODELS