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FLASH GENE

Symbol

KLHL24

contributors: mct - updated : 26-01-2017

HGNC name	kelch-like 24 (Drosophila)
HGNC id	25947

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EBSSH epidermolysis bullosa simplex, generalized, with scarring and hair loss
Location	3q27.1      Physical location : 183.353.410 - 183.402.302
Synonym name	DRE1 protein
	kainate receptor interacting protein for GluR6
	kelch-like protein 24
Synonym symbol(s)	DRE1, FLJ20059, KRIP6, FLJ25796

DNA

TYPE	functioning gene
STRUCTURE	48.89 kb     8 Exon(s)

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_017644 8 - 7331 NP_060114 68.23 600 - 2008 18692513

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 Nervous brain         Homo sapiens Skin/Tegument skin         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol not specific fibroblast Homo sapiens Skin/Tegument keratinocyte Homo sapiens Skin/Tegument melanocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

in the N terminus, BTB (bric a brac 1, tramtrack, and broad) domains facilitate dimerization and protein binding

HOMOLOGY

interspecies	homolog to murine Klhl24 (99.3pc)
	homolog to rattus Klhl24 (99.3pc)

Homologene

FAMILY

BTB/kelch family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	involved in diverse cellular functions, including cytoskeleton interactions, nuclear transcription, and ubiquitination
	can directly regulate native kainate receptors and involved in direct functional regulation of a glutamate receptor GRIK2
	in addition to a previously demonstrated direct interaction with the GRIK2 C-terminal domain, regulates kainate receptors by inhibiting PICK1 modulation via competition or a mutual blocking effect
	role for KLHL24 in maintaining the balance between intermediate filament stability and degradation required for skin integrity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binds to the GRIK2 C-terminal domain at a site distinct from the PDZ-binding motif
	binds within a 58 amino acid segment of GRIK2 proximal to the plasma membrane
	KRIP6 interacts with PICK1 in heterologous cells
	interacts with PICK1 in heterologous cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EBSSH

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS