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FLASH GENE

Symbol

MAST3

contributors: mct - updated : 05-06-2024

HGNC name	microtubule associated serine/threonine kinase 3
HGNC id	19036

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEE108 developmental and epileptic encephalopathy 108
Location	19p13.11      Physical location : 18.208.602 - 18.262.498
Synonym symbol(s)	DEE108, KIAA0561
EC.number	2.7.11.1

DNA

TYPE	functioning gene
STRUCTURE	53.91 kb

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_001393501 29 - 6044 NP_001380430 - 1355 - 2008 18650832 NM_001393502 28 - 6023 NP_001380431 - 1348 - 2008 18650832 NM_001393504 28 - 6020 NP_001380433 - 1347 - 2008 18650832 NM_001393508 28 - 5954 NP_001380437 - 1325 - 2008 18650832 NM_001393516 28 - 5927 NP_001380445 - 1316 - 2008 18650832 NM_001393514 27 - 5933 NP_001380443 - 1318 - 2008 18650832 NM_015016 27 - 5906 NP_055831 - 1309 - 2008 18650832 NM_001393509 28 - 5951 NP_001380438 - 1324 - 2008 18650832 NM_001393512 28 - 5948 NP_001380441 - 1323 - 2008 18650832 NM_001393518 28 - 5924 NP_001380447 - 1315 - 2008 18650832 NM_001393515 27 - 5930 NP_001380444 - 1317 - 2008 18650832 NM_001393520 27 - 5903 NP_001380449 - 1308 - 2008 18650832

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 Nervous brain basal nuclei striatum   highly Homo sapiens   brain forebrain cerebral cortex     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
text	abundant expression of MAST3 in antigen-presenting cells

basic FUNCTION	is a modulator of the inflammatory response through regulation of immune gene expression in the gut of IBD patients
	modulates the activity of inflammation-related transcription factor nuclear factor kappa B
	play a critical role in regulating the immune response of IBD and involved in the process of cytoskeleton organization, intracellular signal transduction and peptidyl-serine phosphorylation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ARRP19 is phosphorylated by MAST3, an enzyme of previously unknown function that is enriched in striatum
	ARPP9 is a striatal-enriched inhibitor of protein phosphatase 2A regulated by MAST3
	MAST3 might promote the proliferation and inflammation of fibroblast-like synovial cells (FLSs) by regulating NFKB1 signaling pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEE108

Susceptibility

to Inflammatory bowel disease (IBD)

Variant & Polymorphism other

four MAST3 coding variants, including a non-synonymous SNP rs8108738, correlated to rs273506 and associated with IBD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS