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FLASH GENE

Symbol

LZTR1

contributors: mlc - updated : 25-06-2020

HGNC name	leucine-zipper-like transcriptional regulator, 1
HGNC id	6742

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	16.74 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_006767 21 - 4282 NP_006758 - 840 - 2019 30872527

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 Endocrine thyroid       highly Respiratory respiratory tract larynx     highly Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

Text	brain, lung, liver, kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six N-terminal kelch motifs
	basic leucine zipper (bZIP) protein with PEST sequences
	two BTB/POZ domains at the C terminus (the second mediating the binding to the Golgi complex)

HOMOLOGY

Homologene

FAMILY

BTB-kelch superfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome

basic FUNCTION	may help stabilize the Gogli complex
	play important roles during fundamental cellular processes, such as the regulation of cell morphology, migration, and gene expression
	probable transcriptional regulator that may play a crucial role in embryogenesis

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	LZTR1 acts as a conserved regulator of RAS ubiquitination and MAPK pathway activation
	LZTR1 is a RIT1 interactor, that acts as an adaptor for protein degradation
	LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases MRAS, HRAS, NRAS, and KRAS

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NS10

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in DiGeorge syndrome

Susceptibility

to an autosomal dominant inherited disorder of multiple schwannomas

Variant & Polymorphism other	germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Lztr1 deletion in blood vessels of adult mice leads to abnormal vascular leakage