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FLASH GENE

Symbol

MEST

contributors: mct/ - updated : 04-04-2015

HGNC name	mesoderm specific transcript homolog (mouse)
HGNC id	7028

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SRS7 Silver-Russell syndrome
Location	7q32.2      Physical location : 130.126.045 - 130.146.129
Synonym name	paternally expressed gene 1
	mesoderm specific transcript
Synonym symbol(s)	PEG1, MGC111102, MGC8703, DKFZp686L18234

DNA

TYPE	like-sequence
SPECIAL FEATURE	overlapping, gene in gene
text	overlapping of MEST 3' utr and exons 21-24 of COPG2
STRUCTURE	20.10 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	transcribed from two promoters, the transcript from promoter P1 is derived from both parental alleles, and the transcript from P2 is exclusively from the paternal allele

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - D7S530 - NRF1 - UBE2H - CATR1 - CPA2 - CPA1 - MEST - COPG2 - D7S649 - qter
Authors	Hayashida (00)

RNA

TRANSCRIPTS	type	messenger

text	two isoforms : an alternative origin one and one alternative (Kosaki)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002402 12 - 2507 NP_002393 - 335 maternally imprinted in normal and carcinoma breast tissue 2000 10631159 starting from exon 1-2 NM_177524 12 splicing 2455 NP_803490 - 326 adult lymphocytes, lymphoblastoid cell lines, not imprinted, highly expressed in breast carcinoma 2000 10631159 starting from exon A skipping exon 1 (A-2) PEG1-AS - splicing 2400 - - expressed only from the paternal allele, predominantly in testis and in mature motile spermatozoa 2000 10631159 NM_177525 12 - 2419 NP_803491 - 326 - 2000 10631159 NM_001253900 - - 2471 NP_001240829 - 321 - 2000 10631159 NM_001253901 - - 2350 NP_001240830 - 292 - 2000 10631159 NM_001253902 - - 2302 NP_001240831 - 292 - 2000 10631159

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 Cardiovascular heart       highly Digestive esophagus       highly Endocrine pancreas       moderately Nervous nerve       highly Reproductive female system placenta     highly Respiratory lung       moderately Urinary kidney       moderately

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage	lymphoblastoid cell lines (both isoforms)
cell lines
fluid/secretion

at STAGE

physiological period

pregnancy

Text	hydatidiform mole of androgenetic origin

IMPRINTING	paternally
text	in fetal tissues paternal imprinting and in hydatidiform mole of androgenic origin but expressed from both parental alleles (not imprinted)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

potential N-linked glycosylation site

HOMOLOGY

interspecies

homolog to murine imprinted gene Peg1

Homologene

FAMILY

enzyme with significant similarity to alpha/beta hydrolase fold family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	imprinting gene, which is associated with growth of mesodermal origin cells
	imprinted gene that plays important roles in embryo development
	novel regulator of Wnt/CTNNB signalling during adipogenic differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with LRP6 (MEST inhibited maturation of LRP6 by controlling the glycosylation of LRP6)
	SOX6 regulates adipogenesis in vertebrate species by activating adipogenic regulators including PPARG, CEBPA and MEST

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SRS7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   biallelic expression in cancers tumoral     --over   in leiomyoma, but without loss of imprinting of the gene constitutional     --other   hypermethylation was highest in the severe oligozoospermia

Susceptibility

Variant & Polymorphism

Candidate gene	Silver-Russel syndrome
Marker
Therapy target

ANIMAL & CELL MODELS