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FLASH GENE

Symbol

PLAG1

contributors: mct/npt - updated : 17-04-2010

HGNC name	pleiomorphic adenoma gene 1
HGNC id	9045

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001114635 3 - 6874 NP_001108107 - 418 - Kas (1998) NM_001114634 4 - 7233 NP_001108106 - 500 - Kas (1998) NM_002655 5 - 7338 NP_002646 - 500 - Kas (1998)

EXPRESSION

Type	restricted

constitutive of

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 mouth           pharynx           salivary gland         Endocrine neuroendocrine pituitary       Gustatory (taste) ear inner cochlea     Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	lung, liver, kidney, rain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven zinc fingers, C2H2 type
	serine-rich C terminus
	two putative nuclear localization signals (NLS)

HOMOLOGY

Homologene

FAMILY

krueppel C2H2-type zinc-finger protein family

CATEGORY

transcription factor , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	implicated in the molecular pathogenesis of hepatoblastoma
	transcription factors from the PLAG family of cell cycle progression-related DNA-binding proteins, involved in transcriptional induction of ABCC6 (Ratajewski 2008)

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding to NLS1 of PLAG1 and during its nuclear import

cell & other

REGULATION

activated by

the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with beta catenin in adenomas with translocation t(3;8)(p21;q12), TCEA1, with t(3;8)(p21;q12) in salivary adenomas tumoral       gain of function activated by 'promoter-swapping'in Lipoblastoma (Ropke 2007) tumoral fusion       CHCHD7-PLAG1 fusions in pleomorphic salivary gland adenomas

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS